Head and Neck Medicine by Alexandros G.Sfakianakis: 10/11/17

Τετάρτη 11 Οκτωβρίου 2017

Microphthalmia with linear skin defects (MLS) syndrome: familial presentation

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Linear IgA bullous dermatosis associated with amyotrophic lateral sclerosis

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Milia: a useful clinical marker of CYLD mutation carrier status

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Scorpion bite-induced ischaemic stroke

We report a 54-year-old woman with scorpion bite. After 3 hours of admission, the patient developed sudden onset tachycardia with hypotension. Cardiac evaluation showed raised creatine kinase MB isoenzyme was elevated; ECG and two-dimensional echocardiography findings were suggestive of myocarditis. Subsequently, she developed transient ventricular tachycardia before developing abrupt onset, right hemiplegia, global aphasia and progressive worsening of sensorium 12 hours after the bite. MRI of brain revealed massive left middle cerebral artery (MCA) territory infarct. The magnetic resonance angiography showed non-visualisation of left internal carotid artery (ICA) and MCA. Coagulation parameters were normal. Sudden complete occlusion of left ICA was probably secondary to cardioembolic phenomenon leading to massive infarct. Despite aggressive medical and supportive measures, she clinically worsened rapidly to Glasgow Coma Scale of 3/15 over next 6 hours and succumbed to her illness the next day.

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Oesophageal ischaemia: an uncommon cause of chest pain

A 79-year-old woman with a history of ischaemic heart disease and atrial fibrillation presented to hospital with severe chest pain. Blood tests showed an elevated D-dimer and a rise in troponin I. ECG showed right bundle branch block pattern and T wave inversion in leads V1 to V3, although these changes were present in old ECGs. A chest X-ray was done which was normal. Due to the nature and severity of her pain a CT aortic angiogram was done. This did not show any evidence of aortic dissection or a pulmonary embolism. The patient then had several episodes of haematemesis. An urgent oesophagogastroduodenoscopy was done which showed a circumferential, well demarcated area of blackened oesophageal mucosa. The patient was diagnosed with ischaemic damage to her oesophagus.

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Posterior fossa progressive multifocal leukoencephalopathy: first presentation of an unknown autoimmune disease

We present a case of a 57-year-old man who presented with progressive cerebellar dysarthria and cerebellar ataxia. Additional investigations confirmed the diagnosis of progressive multifocal leukoencephalopathy (PML) in the posterior fossa. This is a demyelinating disease of the central nervous system, caused by an opportunistic infection with John Cunningham virus. PML has previously been considered a lethal condition, but because of careful monitoring of patients with HIV and of patients using immunosuppressive drugs it is discovered in earlier stages and prognosis can be improved. Our patient had no known immune-compromising state, but further work-up revealed that the PML was most likely the first presentation of a previous untreated autoimmune disorder: sarcoidosis.

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Subclinical meningoventriculitis as a cause of obstructive hydrocephalus

Communicating hydrocephalus may complicate infantile bacterial meningitis, typically presenting with systemic features of infection. We report a rare case of 'subclinical meningoventriculitis' causing obstructive hydrocephalus and its challenging management. A healthy 10-week-old immunocompetent male patient presented with failure to thrive and vomiting, secondary to presumed gastro-oesophageal reflux. The child was neurologically alert, afebrile with normal inflammatory markers. Progressive macrocephaly prompted an MRI confirming triventricular hydrocephalus secondary to aqueductal stenosis. An endoscopic third ventriculostomy was performed however abandoned intraoperatively due to the unexpected finding of intraventricular purulent cerebrospinal fluid. A 6-week course of intravenous ceftriaxone was commenced for Escherichia coli meningoventriculitis. However, the child was readmitted 18 days postoperatively with acute hydrocephalus requiring a ventricular washout and staged ventriculoperitoneal shunt insertion at 4 weeks. Serial head circumference measurements are paramount in the assessment of a paediatric patient. In an immunocompetent child, a subclinical fibropurulent meningoventriculitis can result in several management challenges.

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A unique case of nephrogenic systemic fibrosis from gadolinium exposure in a patient with normal eGFR

A 57-year-old woman presented with swelling and thickening of the skin of the lower extremities. Three months prior to presentation, patient had MRI with gadolinium as part of an evaluation for suspected pancreatic malignancy. Creatinine levels at the time of gadolinium exposure were 0.9–1.2 mg/dL, with a corresponding estimated glomerular filtration rate of 64 mL/min/1.73m² by modification of diet in renal disease equation. Twenty-four-hour urine creatinine clearance was performed as an outpatient following development of symptoms. This revealed a creatinine clearance of 23 mL/min, suggestive of advanced chronic kidney disease despite an estimated glomerular filtration rate of 64 mL/min/1.73m². Skin biopsy was positive for sclerosing dermopathy. These findings, in addition to the temporal association with gadolinium exposure, led to the diagnosis of nephrogenic systemic fibrosis.

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Allergic bronchopulmonary mycosis presenting as a new lung mass

Description

A 69-year-old man with invasive pancreatic ductal adenocarcinoma underwent pancreaticoduodenectomy and adjuvant chemotherapy. Three years later, a right upper lobe (RUL) lung mass was noted on surveillance imaging, suspicious for disease recurrence. He was treated for bronchitis and remained asymptomatic 4 months later with an unremarkable physical exam. Chest imaging (figure 1A,B) showed an RUL central mass with an infiltrative pattern of growth and right paratracheal adenopathy that is negative for malignancy on endobronchial ultrasound-guided needle aspiration. Bronchoalveolar lavage and brushing grew branching septate hyphae identified as Bipolaris species. The presence of cylindrical bronchiectasis with bronchial wall thickening, mucus plugging, peripheral eosinophilia (810 cells/µL), elevated total serum immunoglobulin E (422.6 IU/mL) and negative aspergillus antibodies suggested allergic bronchopulmonary mycosis (ABPM) caused by Bipolaris species. After 3 months of therapy with prednisone and posaconazole, the mass-like consolidation was completely resolved (figure 1C,D).

Figure 1

Chest CT...

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Unusual case of prosthetic joint infection caused by Francisella Tularensis

Tularaemia is a zoonotic infection caused by Francisella tularensis.Ulceroglandular, glandular, oculoglandular, pharyngeal, typhoidal and pneumonic types are the different types of the disease. Infection of prosthetic joints occurs at an exceedingly uncommon rate. We report a case of prosthetic joint infection involving the hip with F. tularensis, which to the best of our knowledge after a thorough literature review is the second of its kind.

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Cryptococcus neoformans osteomyelitis and intramuscular abscess in a liver transplant patient

Cryptococcus neoformans is an important pathogen that can cause severe illness and mortality in immunocompromised patients. We highlight here the case of a 53-year-old man presenting to hospital 4 years postliver transplant with fever, acute renal failure and a medial thigh lesion. Initially treated as bacterial sepsis, the patient failed to improve on broad-spectrum antibiotics. Further investigations revealed disseminated cryptococcemia complicated by patellar osteomyelitis and an intramuscular abscess. Unfortunately, although the patient initially showed signs of clinical improvement after starting standard antifungal agents, he deteriorated and died secondary to acute renal failure. Osteomyelitis is a rare manifestation of cryptococcal infection for which there is often a significant delay to diagnosis and treatment. This is the fourth reported case of cryptococcal osteomyelitis in a liver transplant patient and underlines the importance of considering fungal infections in the differential diagnosis of osseous lesions in solid organ transplant and other immunocompromised patients.

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Olfactory bulb agenesis with normal sexual hormones

An 18-year-old Caucasian man presented with a lack of sense of surrounding smell. The problem was first noticed when a family member discussed the smell of the food, which he had no idea what it was. The patient had normal development and sexual function, no history of trauma, surgery, chemical exposure or infection. Physical examination revealed no significant abnormalities. Smell threshold test using phenyl-ethyl-alcohol revealed bilateral anosmia. MRI showed bilateral aplastic olfactory bulbs and tracts associated with absent cortical growth of the olfactory sulci and asymmetrical gyrus rectus. Circulating hormones including cortisol, growth hormone, insulin-like growth factor 1, adrenocorticotropic hormone, thyroid hormones, follicle-stimulating hormone, luteinizing hormone, prolactin and testosterone were within normal ranges. Doppler ultrasound showed normal testis with bilateral supratesticular varicoceles. Given the loss of warning smell sensation, counselling for daily living precautions especially those related to gas, fire and rotten food was given.

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Hydatid cyst of the thigh: a challenging diagnosis

Description

Hydatid disease is a common infection in Mediterranean countries. It is caused by a parasite 'Echinococcus granulosus', which may affect several organs. Liver and lungs are frequent locations. Primary hydatid cyst located in the musculoskeletal system is uncommon.1

These images illustrate the case of a 27-year-old man without past medical history who presented with a swelling of the right thigh that appeared 6 months ago. Physical examination showed a tender mass of the upper third of the right thigh. There was no history of trauma or fever. Inflammatory blood markers were normal. Ultrasonography was first performed revealing a huge multilocular intramuscular cystic mass of the thigh without tissue components or calcifications. The aspect was suspicious of a cystic lymphangioma. An MRI of the thigh was performed to evaluate accurately the size of the mass and its location. It revealed a voluminous mass of 10x6 cm developed in the...

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Syncope from radiation-induced baroreceptor failure

Orthostatic hypotension has a vast differential that has been previously described throughout the literature. However, baroreceptor failure as a sequela of head and neck radiation is not often recognised as an important cause of dramatic haemodynamic variability. As a result, individuals suffering from baroreceptor failure likely have been undertreated. Herein, we report a case of a patient with a history of radiation to the neck for squamous cell carcinoma of the tongue and resultant baroreceptor failure resulting in syncope.

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Live 'Baby dance among the red blood cells

Description

A 35-year-old woman presented to outpatients with a 1-week history of high-grade fever and generalised malaise. General and systemic examination was unremarkable. On evaluation, her complete haemogram was within normal limits; however peripheral smear revealed the presence of thread-like larval forms of filaria, belonging to the species Wuchereria bancrofti. A wet mount preparation of the centrifuged whole blood sample was done, which demonstrated 'dancing' microfilaria, recorded in real time (see online ).

Dancing adult worms can be visualised within the dilated lymphatic channels on high-resolution ultrasound by their characteristic wriggling type movements, known as the 'filarial dance sign'.1 A wet mount of blood from a patient with microfilaraemia can demonstrate 'dance sign' of the baby worms under a microscope, identical to the parental wriggling movements. Microfilariae are larval forms, released into the blood from adult female worms inhabiting the regional lymphatic vessels. Circulating microfilariae are...

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Erdheim-Chester disease: atypical presentation of a rare disease

We report the clinical case of an adult patient referred to our hospital because of trismus due to a tumour in the right infratemporal and pterygomaxillary fossa. He referred hyporexia, weight loss and right trigeminal neuralgia. On physical examination, he had trismus and diplopia. On neuroimaging, the tumour invaded the central nervous system affecting the right temporal lobe and orbit, and the sellar region. Tumour biopsy revealed foamy histiocytes and isolated giant multinuclear cells immunoreactive to CD68 and negative to CD1a and S100. A diagnosis of Erdheim-Chester disease was made. Non-evidence of large bone involvement was found in neither plain radiographs nor Technetium 99 m bone scintigraphy. BRAFV600E mutation analysis was negative. Because of raised intracranial pressure, a debulking surgery of the intracranial histiocytic process was performed. The patient improved his symptoms and remains clinically stable after 12 months of treatment with pegylated interferon-α–2a 180 µg/weekly.

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Synchronous HPV-Related Cancer of Bilateral Tonsils Detected Using Transoral Endoscopic Examination with Narrow-Band Imaging

Background. The incidence of human papillomavirus- (HPV-) related oropharyngeal squamous cell carcinoma (OPSCC) has been rapidly increasing worldwide. HPV is reported in approximately 50% cases of OPSCC in Japan. However, there are few reports of synchronous bilateral HPV-positive tonsillar carcinoma, and, in almost all those cases, carcinoma was detected using positron emission tomography/computed tomography and/or bilateral tonsillectomy. Methods and Results. We report the case of a 63-year-old male with bilateral tonsillar carcinoma detected using transoral endoscopic examination with narrow-band imaging (NBI). A biopsy of the bilateral tonsils revealed squamous cell carcinoma, which was demonstrated to be HPV-related using in situ hybridization and p16 immunohistochemistry. The patient was diagnosed as synchronous bilateral tonsillar carcinoma: T1 (2) N2b M0. He was treated with induction chemotherapy, bilateral radical tonsillectomy with neck dissection, and radiotherapy. Conclusion. To our knowledge, this is the first report of a synchronous bilateral tonsillar carcinoma detected using transoral NBI in the outpatient setting. Early diagnosis without the inspection under general anesthesia is beneficial for the patients with lymph node metastasis from unknown primary lesion.

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Atrial fibrillation and central nervous complications in liver transplanted hereditary transthyretin amyloidosis patients.

Background: Central nervous system (CNS) complications are increasingly noted in liver transplanted (LTx) hereditary transthyretin amyloid (ATTRm) amyloidosis patients; this suggests that the increased survival allows for intracranial ATTRm formation from brain synthesised mutant TTR. However, atrial fibrillation (AF), a recognised risk factor for ischemic CNS complications, is also observed after LTx. The aim of the study was to investigate the occurrence of CNS complications and AF in LTx ATTRm amyloidosis patients. Methods: The medical records of all LTx ATTRm amyloidosis patients in the county of Vasterbotten, Sweden were investigated for information on CNS complications, AF, anticoagulation (AC) therapy, hypertension, cardiac ischemic disease, hypertrophy, and neurological status. Results: Sixty-three patients that had survived for three years or longer after LTx were included in the analysis. Twenty-five patients had developed 1 or more CNS complications at a median of 21 years after onset of disease. AF was noted in 21 patients (median time to diagnosis 24 years). Cerebrovascular events (CVE) developed in 17 (median time to event 21 years). CVEs occurred significantly more often in patients with AF (P

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Management of Patients who Receive an Organ Transplant Abroad and Return Home for Follow-up Care: Recommendations From the Declaration of Istanbul Custodian Group.

Eradicating transplant tourism depends upon complex solutions that include efforts to progress towards self-sufficiency in transplantation. Meanwhile, professionals and authorities are faced with medical, legal, and ethical problems raised by patients who return home after receiving an organ transplant abroad, particularly when the organ has been obtained through illegitimate means. In 2016, the Declaration of Istanbul Custodian Group convened an international, multidisciplinary workshop in Madrid, Spain, to address these challenges and provide recommendations for the management of these patients, which are presented in this paper. The core recommendations are grounded in the belief that principles of transparency, traceability and continuity of care applied to patients who receive an organ domestically should also apply to patients who receive an organ abroad. Governments and professionals are urged to ensure that, upon return, patients are promptly referred to a transplant center for evaluation and care; not cover the costs of transplants resulting from organ or human trafficking; register standardized information at official registries on patients who travel for transplantation; promote international exchange of data for traceability; and develop a framework for the notification of identified or suspected cases of transnational transplant-related crimes by health professionals to law enforcement agencies. Copyright (C) 2017 Wolters Kluwer Health, Inc. All rights reserved.

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Rhesus Alloimunization Occurs After Rh Incompatible Liver Transplantation in Children.

No abstract available

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Venous Thromboembolism After Adult Lung Transplantation: A Frequent Event Associated with Lower Survival.

Background: The incidence of venous thromboembolism (VTE) after lung transplantation (LTX) varies significantly across studies. Two studies have suggested that these thrombotic events are associated with a lower posttransplant survival. Herein, we sought to determine the incidence, predictors and impact of VTE on survival after LTX at a quaternary referral center. Methods: This was a large cohort study of LTX recipients. Key outcome parameters were time to VTE after transplant and survival. Deep vein thrombosis (DVT) diagnosis required a positive ultrasound. Pulmonary embolism diagnosis required either a positive chest computed tomography angiogram or a high-probability ventilation/perfusion scan. Results: The overall incidence of VTE among 701 LTX recipients was 43.8%, of which 97.7% were DVT episodes, of which 71.3% were in the upper extremities. Predictors of VTE were prior history of DVT (HR 2.82, 95% CI 1.49 - 5.37), days in intensive care (HR 1.01, 95% CI 1.01 - 1.02), and the use of extracorporeal membrane oxygenation (HR 2.22, 95% CI 1.43 - 3.45). Importantly, VTE predicted a lower posttransplant survival (HR 1.70, 95% CI 1.28 - 2.26), when occurring within or after the first 30 days. The location of the DVT, either upper extremity or below the knee, also predicted a poor survival. Conclusions: VTE was frequent in LTX recipients and predicted a poor survival even when located in the upper extremities or below the knee. Post LTX factors were the major predictors of VTE. These data suggest that aggressive VTE screening/treatment protocols be implemented in post LTX population. Copyright (C) 2017 Wolters Kluwer Health, Inc. All rights reserved.

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Contemporary Policies Regarding Alcohol and Marijuana use Among Liver Transplant Programs in the United States.

BACKGROUND: Alcoholic liver disease is a common indication for liver transplantation (OLT). Although OLT has been shown to confer survival benefit to patients with acute alcoholic hepatitis (AAH), historically most programs require a 6-month abstinence period prior to OLT which excludes patients with AAH. Marijuana has become legal in more than half the states in the United States. This survey of liver transplant programs was conducted to evaluate current policies regarding alcohol, marijuana and methadone use. METHODS: A questionnaire was distributed to 100 UNOS-approved liver transplant programs in North America that have performed at least 30 liver transplants/year in the last 5 years. RESULTS: Forty-nine programs responded. Only 43% of programs required a specific period of abstinence prior to transplant for alcoholic liver disease and only 26% enforced 6-month abstinence policy. For patients with AAH, 71% programs waived the 6-month abstinence requirement and considered psychosocial factors such as family support, patient's motivation or commitment to rehabilitate. Few programs used validated instruments to assess risk of relapse in AAH patients. Fourteen percent of programs transplant patients actively using marijuana and an additional 28% of programs listed patients using marijuana provided they discontinue by the time of OLT. Active methadone users were accepted in 45% of programs. CONCLUSIONS: Policies regarding alcohol use have become more flexible particularly toward patients with AAH. Marijuana use is also more accepted. Although policies regarding alcohol and marijuana have changed significantly in the last decade, they remain highly variable among programs. Copyright (C) 2017 Wolters Kluwer Health, Inc. All rights reserved.

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The Optimization of the Prevascularization Procedures for Improving Subcutaneous Islet Engraftment.

Background: Subcutaneous islet transplantation (SC Tx) is associated with minimal invasiveness, but poor vascularization. Thus, the optimization of the prevascularization procedures is crucial for improving the outcomes. Although the effectiveness of basic fibroblast growth factor (bFGF) was reported, the optimal procedures remain unclear. We sought to optimize the prevascularization procedures including the use of a novel scaffold, recombinant peptide (RCP). Methods: Devices containing various amount of bFGF with/without heparin, or RCP were implanted into the subcutaneous space of diabetic C57BL/6 mice. Syngeneic islets were transplanted into the prevascularized space. Blood glucose, intra-peritoneal glucose tolerance, and immunohistochemistry were evaluated. Results: The cure rates in all the device groups irrespective of bFGF doses were considerably higher than in the nondevice group. The cure rate in the bFGF0 group was unexpectedly higher than that in the subcutaneous islet transplant alone group (the None group) (57.1 vs. 28.6%). Glucose tolerance was ameliorated in the bFGF10(-), 10(+) and 15(-) groups. The number of vWF-positive vessels in the bFGF10(+) group was significantly higher than that in the None and bFGF0 groups (P

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Prognostic significance of standardized uptake value on F18-FDG PET/CT in patients with extranodal nasal type NK/T cell lymphoma: A multicenter, retrospective analysis

The purpose of this study was to evaluate the value of parameters assessed with F18-flurodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) in predicting relapse free survival and overall survival in patients with extranodal nasal type NK/T cell lymphoma.

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Structural and Ultrastructural Analyses of Bone Regeneration in Rabbit Cranial Osteotomy: Piezosurgery Versus Traditional Osteotomes

Clinical advantages of piezosurgery have been already proved. However, few investigations have focused on the dynamics of bone healing. The aim of this study was to evaluate, in adult rabbits, bone regeneration after cranial linear osteotomies with two piezoelectrical devices (Piezosurgery Medical – PM and Piezosurgery Plus – PP), comparing them with conventional rotary osteotomes (RO). PP was characterized by an output power three times higher than PM. Fifteen days after surgery, histomorphometric analyses showed that the osteotomy gap produced with PM and PP was about half the size of that produced by RO, and in a more advanced stage of recovery.

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Split-Overlapping Genioplasty: Surgical Technique, Morphological and Radiological Long-Term Outcomes.

Background: The overlapping bone flap genioplasty, described by Tessier, was developed to treat major retrognathia or long and retruded chins. For 15 years, we have used a modified version of this technique to avoid its drawbacks. The aim of this article is to describe our modification and evaluate the long-term morphologic and radiologic outcomes. Patients and Method: The authors included every split-overlapping genioplasty performed in our department between 2004 and 2014. Demographics, surgical data, and complications were recorded. Radiologic bone resorption was evaluated comparing preoperative, day-1 postoperative, and year-1 postoperative cephalometric x-rays. Morphologic outcomes were evaluated on standardized pre- and postoperative views using an analogic Likert scale. Surgical Technique: The main modification of the procedure consists in separating the posterior cortex of the transplant using a reciprocating saw. After overlapping the reduced transplant onto the mandible, the posterior cortex is used as an apposition graft to soften the labiomental crease. Results: Forty-seven patients were analyzed during this period. In 44 patients, the procedure was combined with mandibular and/or maxillary osteotomy. The average reduction of symphysis height was 5 mm, and the average pogonion advancement was 4.3 mm. After 1 year, we recorded 7% average bone resorption. No major complications (nerve injury, hematoma, among others) were reported. Morphologic outcomes were deemed satisfactory or very satisfactory in the vast majority of cases. Conclusion: Split-overlapping genioplasty is a safe and reliable procedure with stable, long-lasting outcomes. This versatile technique is particularly useful for the correction of a massive symphysis or high and retruded chins. (C) 2017 by Mutaz B. Habal, MD.

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A Research of Pyogenic Granuloma Genesis Factor With Immunohistochemical Analysis.

Pyogenic granuloma (PG) is a type of vascular tumor for which the growth mechanism is poorly understood. Estrogen and progesterone may influence vascular malformations by increasing neovascularization in the lesions. Pregnancy tumor is a term for PG that occurs on the gingival mucosa of pregnant women in response to local irritation or injury. The etiology and pathogenesis of this phenomenon are not fully understood. Hormonal imbalance has been hypothesized to be responsible for the development of gingival hyper-reactive inflammatory responses. Moreover, it has been shown in vitro that the female sex hormone is a potential regulator of the production of several growth factors, such as vascular endothelial growth factor (VEGF), basic fibroblast growth factor, and nerve growth factor, in various cell types. Epidermal growth factor receptor (EGFR) is also involved in a signaling cascade that influences proliferation and other tumor-promoting activities, as well as the responsiveness to chemotherapy. The aim of this study was to examine the relationship between PG pathogenesis and hormone imbalance in 21 patients. All specimens were analyzed by immunohistochemical staining with hematoxylin and eosin for the following hormones: estrogen receptor, progesterone receptor, VEGF, and EGFR. The analysis of the specimens showed that estrogen receptor and EGFR were not associated with PG, while VEGF was statistically related to PG. In addition, there was no significantly difference between sex, tumor location, or pregnancy. There are few studies about correlation between the pathogenesis of PG and sex hormones or growth factors demonstrated via immunohistochemical analysis. The results of this study indicate that estrogen and progesterone do not influence the pathogenesis of PG; however, VEGF may be associated with the pathogenesis of PG. (C) 2017 by Mutaz B. Habal, MD.

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Lolium perenne peptides for treatment of grass pollen allergy: A randomized, double-blind, placebo-controlled clinical trial

Publication date: Available online 10 October 2017
Source:Journal of Allergy and Clinical Immunology
Author(s): Mohamed H. Shamji, Jan Ceuppens, Claus Bachert, Peter Hellings, Gaël Placier, Gaëtan Thirion, Nicolas Bovy, Stephen R. Durham, Jean Duchateau, Thierry Legon, Sabine Pirotton

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Genome-wide association study and meta-analysis in multiple populations identifies new loci for peanut allergy and establishes c11orf30/EMSY as a genetic risk factor for food allergy

Publication date: Available online 10 October 2017
Source:Journal of Allergy and Clinical Immunology
Author(s): Yuka Asai, Aida Eslami, C. Dorien van Ginkel, Loubna Akhabir, Ming Wan, George Ellis, Moshe Ben-Shoshan, David Martino, Manuel A. Ferreira, Katrina Allen, Bruce Mazer, Hans de Groot, Nicolette W. de Jong, Roy N. Gerth van Wijk, Anthony E.J. Dubois, Rick Chin, Steven Cheuk, Joshua Hoffman, Eric Jorgensen, John S. Witte, Ronald B. Melles, Xiumei Hong, Xiaobin Wang, Jennie Hui, Arthur W. (Bill) Musk, Michael Hunter, Alan L. James, Gerard H. Koppelman, Andrew J. Sandford, Ann E. Clarke, Denise Daley
BackgroundPeanut allergy (PA) is a complex disease with both environmental and genetic risk factors. Previously PA loci were identified in FLG and HLA in candidate gene studies, and loci in HLA in a genome-wide association study and meta-analysis.ObjectiveTo investigate genetic susceptibility to PA.MethodsEight hundred and fifty cases and 926 hyper-controls and >7.8 million genotyped and imputed single nucleotide polymorphisms (SNPs) were analyzed in a genome-wide association study to identify susceptibility variants for PA in the Canadian population. Meta-analysis of two phenotypes (PA and food allergy) was conducted using 7 studies from the Canadian, American (2), Australian, German and Dutch (2) populations.ResultsA SNP near ITGA6 reached genome-wide significance with PA (p=1.80×10^-8), while SNPs associated with SKAP1, MMP12/MMP13, CTNNA3, ARHGAP24, ANGPT4, c11orf30 (EMSY), and EXOC4 reached a threshold suggestive of association (p≤1.49×10^-6). In the meta-analysis of PA, loci in or near ITGA6, ANGPT4, MMP12/MMP13, c11orf30 and EXOC4 were significant (p≤1.49×10^-6). When a phenotype of any food allergy was used for meta-analysis, the c11orf30 locus reached genome-wide significance (p=7.50×10^-11), while SNPs associated with ITGA6, ANGPT4, MMP12/MMP13, EXOC4 and additional c11orf30 SNPs were suggestive (p≤1.49×10^-6). Functional annotation indicated SKAP1 regulates expression of CBX1, which co-localizes with the EMSY protein coded by c11orf30.ConclusionThis study identifies multiple novel loci as risk factors for PA and food allergy and establishes c11orf30 as a risk locus for both peanut and food allergy. Multiple genes (c11orf30/EMSY, SKAP1 and CTNNA3) identified by this study are involved in epigenetic regulation of gene expression.

Teaser

C11orf30 (EMSY) is a risk locus for food allergy, reaching genome-wide significance in meta-analysis (p=7.50×10^-11). Meta-analyses showed five loci suggestive of significance with peanut allergy. These 6 novel loci suggest epigenetic mechanisms.

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A dual energy micro-CT methodology for visualization and quantification of biofilm formation and dentin demineralization

Publication date: January 2018
Source:Archives of Oral Biology, Volume 85
Author(s): Paula Maciel Pires, Thais Pires dos Santos, Andrea Fonseca-Gonçalves, Matheus Melo Pithon, Ricardo Tadeu Lopes, Aline de Almeida Neves
ObjectiveThe aim of this study was to induce artificial caries in human sound dentin by means of a microcosm model using human saliva as source of bacteria and to apply a novel dual-energy micro-CT technique to quantify biofilm formation and evaluate its demineralization potential.DesignEight sound third molars had the occlusal enamel removed by cutting with a diamond disk and five cylindrical cavities (±2mm diameter; ±1.5mm depth) were prepared over the dentin surface in each specimen (n=40 cavities). After sterilization, each specimen received the bacterial salivary inoculum obtained from individuals without any systemic diseases presenting dentin caries lesions and were incubated in BHI added of with 5% sucrose for 96h to allow biofilm formation. After that, two consecutive micro-CT scans were acquired from each specimen (40kv and 70kv). Reconstruction of the images was performed using standardized parameters. After alignment, registration, filtering and image calculations, a final stack of images containing the biofilm volume was obtained from each prepared cavity. Dentin demineralization degree was quantified by comparison with sound dentin areas. All data were analyzed using Shapiro-Wilk test and Spearman correlation using α=5%.ResultsDual-energy micro-CT technique disclosed biofilm formation in all cavities. Biofilm volume inside each cavity varied from 0.30 to 1.57mm³. A positive correlation between cavity volume and volume of formed biofilm was obtained (0.77, p<0.01). The mineral decrease obtained in dentin was high (±90%) for all cavities and all demineralized areas showed mineral density values lower than a defined threshold for dentin caries (1.2g/cm³).ConclusionDual-energy micro-CT technique was successful in the quantification of a microcosm human bacterial biofilm formation and to quantify its demineralization potential in vitro.

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EZH2 regulates dental pulp inflammation by direct effect on inflammatory factors

Publication date: January 2018
Source:Archives of Oral Biology, Volume 85
Author(s): Tianqian Hui, Peng A., Yuan Zhao, Jing Yang, Ling Ye, Chenglin Wang
ObjectivePulpitis is a multi-factorial disease that could be caused by complex interactions between genetics, epigenetics and environmental factors. We aimed to evaluate the role of Enhancer of Zeste Homolog 2 (EZH2) in the inflammatory response of human dental pulp cells (HDPCs) and dental pulp tissues.MethodsThe expressions of inflammatory cytokines in HDPCs treated by EZH2 complex or EZH2 siRNA with or without rhTNF-α were examined by quantitative real-time polymerase chain reaction (q-PCR). The levels of secreted inflammatory cytokines including IL-6, IL-8, IL-15, CCL2 and CXCL12 in culture supernatants were measured by Luminex assay. In rat pulpitis model, the effects of EZH2 on dental pulp tissues were verified by histology. We invested the mechanisms of the effect of EZH2 on the inflammatory factors by ChIP assay.ResultsEZH2 down-regulation inhibited the expression of inflammatory factors, including IL-6, IL-8, IL-15, CCL2 and CXCL12 in HDPCs. EZH2 complex promoted the expression and secretion of these inflammatory factors in HDPCs, while EZH2 silencing could attenuate the promotion of inflammatory factors that were induced by rhTNF-α. In pulpitis models of rats, EZH2 down-regulation inhibited the inflammatory process of dental pulp while EZH2 complex showed no significant facilitation of pulpal inflammation. In addition, EZH2 could bind on the promoters of IL-6, IL-8 and CCL2, but not IL-15 and CXCL12, to affect the transcription of these proinflammatory cytokines.ConclusionsIn HDPCs, EZH2 could induce inflammation, while EZH2 down-regulation could attenuate the inflammatory responses. EZH2 plays an important role in this inflammatory process of dental pulp.

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A dual energy micro-CT methodology for visualization and quantification of biofilm formation and dentin demineralization

Role of PDGF-BB in proliferation, differentiation and maintaining stem cell properties of PDL cells in vitro

Publication date: January 2018
Source:Archives of Oral Biology, Volume 85
Author(s): Zornitsa Mihaylova, Rozaliya Tsikandelova, Pavel Sanimirov, Natalia Gateva, Vanyo Mitev, Nikolay Ishkitiev
ObjectivePlatelet-derived growth factor-BB (PDGF-BB) is one of the most abundant growth factors in platelet derived products and has been shown to stimulate regeneration after tissue injury. There is a population of mesenchymal stem cells (MSC) in human periodontal ligament (PDL) which can contribute to tissue regeneration under appropriate conditions.DesignPDL cells were isolated and characterized using stem cell and differentiation markers via immunofluorescence and flow cytometry and then cultured in vitro and treated with different concentrations of PDGF-BB. The effect of PDGF-BB on cell proliferation, stem cell and differentiation markers expression, soluble collagen production, lysyl oxidase (LOX) activity, alkaline phosphatase (ALP) activity and calcium nodules formation was assessed.ResultsPDGF-BB stimulated the proliferation of cells with the maximum effect at 50ng/mL. The growth factor increased the expression of stem cell markers and SPARC; Col1a2 expression was decreased, whereas the expression of Col3a1 remain unchanged. Soluble collagen production, ALP activity and calcium nodules formation were also significantly decreased by PDGF-BB; LOX activity was significantly increased.ConclusionsPDGF-BB is a powerful promoter of cell proliferation and increases the expression of stem cell markers; inhibites collagen production and mineraliration but accelerates the maturation of collagen chains through increased LOX activity and SPARC expression.

http://ift.tt/2zgXH2D

EZH2 regulates dental pulp inflammation by direct effect on inflammatory factors

Role of PDGF-BB in proliferation, differentiation and maintaining stem cell properties of PDL cells in vitro

Cancer Drugs Dominate New FDA Watch List

Making the list does not mean that the FDA has determined the drug causes the reported adverse event.
Medscape Medical News

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Empfehlungen der S3-Leitline Harnblasenkarzinom werden vorgestellt und eine selektive Literaturrecherche in PubMed ausgewertet.

Ergebnisse und Diskussion

Histologisch lässt sich das MIBC zwar in der Regel eindeutig vom prognostisch deutlich günstigeren nichtmuskelinvasiven Harnblasenkarzinom abgrenzen, eine präoperative Bestimmung des tatsächlichen Tumorstadiums und damit eine weitere Risikostratifizierung ist mit den heute üblichen diagnostischen Maßnahmen aber nur bedingt möglich. Durch eine radikale Zystektomie (RC, in Kombination mit einer perioperativen Systemtherapie) kann selbst bei Tumoren, die bereits die Organgrenzen erreicht oder überschritten haben, eine gute lokale Tumorkontrolle gewährleistet werden. Dennoch kommt es bei einer Vielzahl der Patienten innerhalb der ersten Jahre nach RC zu einem in der Regel nur palliativ zu behandelnden Rezidiv. Während der diagnostische Wert für eine begleitende systematische pelvine Lymphadenektomie unumstritten ist, ist der therapeutische Nutzen mit Verbesserung der postoperativen Prognose noch nicht sicher belegt. Unklar ist weiterhin, ob sich neue minimalinvasive Operationstechniken hinsichtlich der onkologischen Qualität vom klassisch offen-operativen Vorgehen wesentlich unterscheiden. Auch heute noch ist die RC mit einer relativ hohen Morbidität und einer signifikanten Mortalität, insbesondere bei älteren Patienten, behaftet. Eine Optimierung des perioperativen Managements (z. B. Fast-Track-Protokolle) kann die Morbidität nachweisbar reduzieren.

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ESR2 Gene and Medullary Thyroid Carcinoma

Thyroid , Vol. 0, No. 0.

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Incidence and Recurrence of Allergic Fungal Sinusitis at Tertiary Care Facility

Abstract

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Cover Image

The cover image, by SS Sawant et al, is based on the Research Article A nomogram for predicting the risk of neck node metastasis in pathologically node-negative oral cavity carcinoma, DOI: 10.1111/odi.12696.

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Type I interferon pathway activation in Copa syndrome

Publication date: Available online 10 October 2017
Source:Clinical Immunology
Author(s): Stefano Volpi, Jessica Tsui, Marcello Mariani, Claudia Pastorino, Roberta Caorsi, Oliviero Sacco, Angelo Ravelli, Anthony K. Shum, Marco Gattorno, Paolo Picco
Mutations of the COPA gene cause an immune dysregulatory disease characterised by polyarticular arthritis and progressive interstitial lung disease with pulmonary haemorrhages. We report the case of a young girl that presented at age 3 with polyarticular arthritis, chronic cough and high titer rheumatoid factor. Radiologic imaging showed interstitial lung disease with tree-in-a-bud nodules and air-filled cysts. Targeted genetic analysis of COPA gene showed the reported c.698G>A mutation. The patient was lost to follow up for 3years during which therapy was discontinued with the development of joint damage and deformities. Analysis of peripheral blood showed activation of type 1 interferon pathway, which was also confirmed in 4 previously reported COPA patients. Our observations underline the importance of early treatment in COPA disease to avoid loss of joint function. Furthermore, our results suggest a role for type 1 interferon in disease pathogenesis opening the possibility for targeted therapeutic approaches.

http://ift.tt/2i3p4c9

Intrasinusal locking technique: a novel use of the ring block technique at sinus perforations for simultaneous implant placement

Publication date: Available online 10 October 2017
Source:International Journal of Oral and Maxillofacial Surgery
Author(s): A. Sindel, M.M. Özarslan, Ö. Özalp
Ten patients who underwent sinus lift surgery with simultaneous implant placement using the intrasinusal locking technique were evaluated retrospectively. All patients were scheduled for sinus floor elevation procedures with simultaneous implant placement. Schneiderian membrane perforation occurred during the lifting procedure, and conventional methods failed to repair the perforation. Therefore, an autogenous bone ring was placed at the base of the maxillary sinus and was locked to the alveolar crest with a dental implant. Marginal resorption around the dental implants was measured on panoramic radiographs. Prosthetic rehabilitation was performed at 6 months postoperative. The overall survival rate of the implants over a mean follow-up of 24.3 months was 90%. One case failed due to resorption of the alveolar crest around the implant as a result of infection; the implant and the adjacent ring were removed at 1 month postoperative. At the time of writing, the nine implants placed using the documented technique continue to function well, without any signs of peri-implant disease. The proposed approach allows for simultaneous dental implant placement in the extremely atrophic maxilla, even if there is extensive perforation of the Schneiderian membrane.

http://ift.tt/2yZwIrp

Hypoxic volume evaluated by 18F-fluoromisonidazole positron emission tomography (FMISO-PET) may be a prognostic factor in patients with oral squamous cell carcinoma: preliminary analyses

Publication date: Available online 10 October 2017
Source:International Journal of Oral and Maxillofacial Surgery
Author(s): J. Sato, Y. Kitagawa, S. Watanabe, T. Asaka, N. Ohga, K. Hirata, T. Shiga, A. Satoh, N. Tamaki
Tumour hypoxia can be detected by ¹⁸F-fluoromisonidazole positron emission tomography (FMISO-PET). Few studies have assessed the relationships of new PET parameters, including hypoxic volume (HV), metabolic tumour volume (MTV), and total lesion glycolysis (TLG), with 5-year survival of patients treated surgically for oral squamous cell carcinoma (OSCC). This study evaluated the relationships between these PET parameters and 5-year survival in OSCC patients. Twenty-three patients (age 42–84 years; 15 male, eight female) with OSCC underwent FMISO- and ¹⁸F-fluoro-2-deoxyglucose (FDG)-PET computed tomography before surgery. All of them underwent radical surgery and were followed up for more than 5 years. The FDG-PET maximum standardized uptake value (SUVmax), HV, MTV, and TLG were measured. The ability of PET parameters to predict disease-free survival (DFS) and loco-regional recurrence (LR) was evaluated using receiver operating characteristic curve analysis. During the follow-up period, five of the 23 patients (22%) died and six (26%) experienced LR. Although FDG-PET SUVmax was not significantly associated with DFS or LR, HV correlated significantly with both DFS and LR. TLG, but not MTV, was significantly associated with DFS; however neither MTV nor TLG was related significantly to LR. In conclusion, tumour HV may predict outcomes in patients with OSCC.

http://ift.tt/2yddzTt

The trajectory of positive psychological change in a head and neck cancer population

Publication date: Available online 10 October 2017
Source:International Journal of Oral and Maxillofacial Surgery
Author(s): S.A. Harding
A stressful event may be sufficient to challenge a strongly held set of assumptions about the world and the self. In some people this may lead to post-traumatic stress disorder (PTSD) and in others to positive psychological change (PPC), whereby a person's reactions to the challenge are beneficial. Little research has investigated PPC in people who have had head and neck cancer (HNC). The aim of this study was to identify demographic, clinical, and psychological factors associated with PPC over time. A cross-sequential study collected data over 5 years. Participants were sent the Silver Lining Questionnaire (SLQ; a measure of PPC), the University of Washington HNC quality of life measure, and the Medical Outcomes Short-Form 12 each year. Additional data were collected from clinical records. Analysis using linear mixed-effects modelling revealed that participants with lower stage tumours and those who only had a surgical intervention reported greater PPC over time. Multivariable modelling adjusting for psychosocial variables found that PPC had a quadratic relationship with time since diagnosis, increasing initially and levelling off after 18 months. These findings build on the minimal PPC research with people following HNC. In particular it demonstrates a model of trajectories for the development of PPC longitudinally over time.

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Dropped-head syndrome in a patient under treatment with the MEK inhibitor trametinib for NRAS-mutated metastatic melanoma

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Interaction between calcitonin gene-related peptide-immunoreactive neurons and satellite cells via P2Y12R in the trigeminal ganglion is involved in neuropathic tongue pain in rats

The P2Y₁₂ receptor expressed in satellite cells of the trigeminal ganglion is thought to contribute to neuropathic pain. The functional interaction between neurons and satellite cells via P2Y₁₂ receptors and phosphorylated extracellular signal-regulated kinase 1/2 (pERK1/2) underlying neuropathic pain in the tongue was evaluated in this study. Expression of P2Y₁₂ receptor was enhanced in pERK1/2-immunoreactive cells encircling trigeminal ganglion neurons after lingual nerve crush. The administration to lingual nerve crush rats of a selective P2Y₁₂ receptor antagonist, MRS2395, attenuated tongue hypersensitivity to mechanical and heat stimulation and suppressed the increase in the relative numbers of calcitonin gene-related peptide (CGRP)-immunoreactive neurons and neurons encircled by pERK1/2-immunoreactive cells. Administration of the P2Y_1,12,13 receptor agonist, 2-(methylthio)adenosine 5′-diphosphate trisodium salt hydrate (2-MeSADP), to naïve rats induced neuropathic pain in the tongue, as in lingual nerve crush rats. Co-administration of 2-MeSADP + MRS2395 to naïve rats did not result in hypersensitivity of the tongue. The relative number of CGRP-immunoreactive neurons increased following this co-administration, but to a lesser degree than observed in 2-MeSADP-administrated naïve rats, and the relative number of neurons encircled by pERK1/2-immunoreactive cells did not change. These results suggest that the interaction between activated satellite cells and CGRP-immunoreactive neurons via P2Y₁₂ receptors contributes to neuropathic pain in the tongue associated with lingual nerve injury.

http://ift.tt/2xwVC5b

In vitro studies of the antimicrobial effect of non-thermal plasma-activated water as a novel mouthwash

The aim of this study was to evaluate the antimicrobial effects of non-thermal plasma-activated water (PAW) as a novel mouthwash in vitro. Three representative oral pathogens – Streptococcus mutans, Actinomyces viscosus and Porphyromonas gingivalis – were treated with PAW. The inactivation effect was evaluated using the colony-forming unit (CFU) method, and the morphological and structural changes of a cell were observed by scanning electron microscopy and transmission electron microscopy (TEM). The physicochemical properties of PAW were analysed, and its influence on the leakage of intracellular proteins and DNA was evaluated. The results showed significant reduction of Streptococcus mutans within 60 s, of Actinomyces viscosus within 40 s, and of Porphyromonas gingivalis in less than 40 s. Scanning electron microscopy and TEM images showed that the normal cell morphology changed by varying degrees after treatment with PAW. Intracellular proteins (280 nm) and DNA (260 nm) leaked from all three species of bacteria after treatment with PAW. Reactive oxygen species (ROS), especially atomic oxygen (O), hydroxyl radical (˙OH), and hydrogen peroxide (H₂O₂), were generated and led to strong oxidative stress and cell damage. These results suggest that PAW has potential use as a novel antimicrobial mouthwash.

http://ift.tt/2kHUeXy

Chemoradiotherapy Versus Esophagectomy After Endoscopic Resection for Superficial Esophageal Squamous Cell Carcinoma

Condition: Esophageal Cancer
Interventions: Procedure: Esophagectomy; Drug: 5-fluorouracil; Drug: Cisplatin; Radiation: Radiation therapy
Sponsors: Samsung Medical Center; Ministry of Health & Welfare, Korea
Not yet recruiting

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Blood transfusion in children with sickle cell disease undergoing tonsillectomy

Publication date: Available online 10 October 2017
Source:International Journal of Pediatric Otorhinolaryngology
Author(s): Carlyn M. Atwood, Sharon H. Gnagi, Ronald J. Teufel, Shaun A. Nguyen, David R. White
IntroductionTonsillectomy is the second most common surgery in children with sickle cell disease. These children are at an increased risk of perioperative complications due to vaso-occlusive events. Although controversial, preoperative blood transfusions are sometimes given in an effort to prevent such complications. The purpose of this study is to analyze trends in the use of blood transfusion for management of children with sickle cell disease (SCD) undergoing tonsillectomy in a national database.MethodsPatients in the 1997–2012 KID with a primary procedure matching the ICD-9 procedure code for tonsillectomy (28.2–28.3) and diagnosis code for SCD (282.60–282.69) were examined. Patients were split into groups by blood transfusion status and compared across variables including complication rate, length of stay (LOS), and hospital charges. Statistical analysis included chi-square test for trend, Mann-Whitney U test, and independent t-test.Results1133 patients with SCD underwent tonsillectomy. There was a strong positive correlation between increasing chronologic year and the proportion of patients receiving blood transfusions, 47 (30.1%) in 1997 to 78 (42.5%) in 2012 (r = 0.94, p = 0.005). During this period, there was no significant change in the rate of complications (r = −0.1, p = 0.87). Overall, patients receiving blood transfusion had a longer mean LOS (3.1 ± 2.4 days vs. 2.5 ± 2.2 days, p < 0.005) and higher mean charge ($17,318 ± 13,191 vs. $13,532 ± 12,124, p < 0.005) compared to patients who did not receive blood transfusion. The rate of complications in the transfusion group, 18 of 352(5.1%), was not significantly different (p = 0.48) from the group without transfusion, 40 of 626 (6.4%).ConclusionsFrom 1997 to 2012, there was a significant increase in the proportion of patients with SCD receiving perioperative blood transfusions for tonsillectomy. While the frequency of transfusion rose, those who received a transfusion had similar complication rates with increased charges and length of hospital stays compared to those who did not receive a transfusion.

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Resolution of vocal fold immobility in preterm infants

Publication date: Available online 10 October 2017
Source:International Journal of Pediatric Otorhinolaryngology
Author(s): Jad Jabbour, Thomas Robey
IntroductionVocal fold immobility (VFI) is an important sequela of preterm birth due to patent ductus arteriosus (PDA) ligation and invasive ventilation. A minority of these patients experience VFI resolution. The purpose of this study is to determine factors associated with VFI resolution in preterm infants.MethodsThis is a case control study of preterm (<37 weeks gestation) infants admitted to a metropolitan Level IV neonatal intensive care unit from 2006 to 2012. All patients diagnosed with VFI by flexible nasolaryngoscopy were divided into 2 cohorts: those with and without laryngoscopic resolution of VFI during follow-up. Univariate and multivariate analyses were performed to determine factors associated with VFI resolution.ResultsOf 71 patients with VFI and adequate follow-up, 17 (23.9%) experienced resolution. Median (range) follow-up was 25.7 (0.4–91.3) months and time to resolution 4.4 (0.4–38.8) months. Compared to the ongoing-VFI cohort, those who experienced resolution had higher median gestational age (31 vs 25 weeks, p = 0.006) and birth weight (1550 vs 765 g, p = 0.02), and lower likelihood of undergoing PDA ligation (47.1% vs 77.8%, p = 0.02). On multivariate analysis, history of PDA ligation remained independently associated with a lower likelihood of VFI resolution (p = 0.02, OR 0.2, 95% CI 0.1–0.8). Among PDA ligation patients, birth weight >1000 g was more common in the resolution cohort compared to the ongoing-VFI cohort (62.5% vs 24.4%, p = 0.047).ConclusionWhile lower birth weight and gestational age are known risk factors for VFI following PDA ligation, in this study, these factors were also associated with a decreased likelihood of VFI resolution. Furthermore, PDA ligation appears to be a risk for both the development and persistence of VFI. This evidence should inform prognosis and intervention decisions for preterm infants with VFI.

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Reproducing severe acute subglottic stenosis in a rabbit model

Publication date: Available online 10 October 2017
Source:International Journal of Pediatric Otorhinolaryngology
Author(s): Wesley R. McIlwain, Paul R. Wistermayer, Tyler P. Swiss, Shannon T. Marko, Nicholas M. Ieronimakis, Derek J. Rogers
ObjectivesThe objectives of this study were to develop an animal model with consistent, severe SGS, and to develop the timeline needed for intervention to limit rabbit mortality.MethodsSubglottic stenosis was created endoscopically using either a nylon or polypropylene brush in sixteen New Zealand White rabbits. The subglottic cross-sectional area was measured endoscopically using a right-angled probe and an open source image analysis software The cross-sectional areas of the stenotic and native airways were compared to calculate the subglottic stenosis percentage and Myer-Cotton grade classification.ResultsThe average diameter of the native subglottis was 4.7 mm (SD 0.4). The mean subglottic stenosis percentage was 73% (SD 32) for all rabbits. The three rabbits injured with the nylon brush had 30, 52, and 76% stenosis. Nine of the 12 surviving rabbits (75%) injured with the polypropylene brush had a >86% subglottic stenosis. Four rabbits in the polypropylene brush cohort died from procedural complications.ConclusionThis study demonstrates a reliable model using a polypropylene brush to create severe acute subglottic stenosis. Cartilage exposure after creating the injury was associated with more severe stenosis. Mortality rate may have been reduced if endoscopic balloon dilation was performed electively seven days after injury, rather than emergently nine days after injury.Level of Evidence4.

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Issue Information - TOC

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Abstracts - Oral and Poster Presentations from the XII International Congress of Dermatology April 18-22, 2017 - Buenos Aires, Argentina

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Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda

Abstract

Background

Mal de Meleda (OMIM# 248300; keratosis palmoplantaris transgrediens) is an autosomal recessive form of palmoplantar keratoderma, clinically characterized by sharp demarcated erythema and hyperkeratosis of the palms and soles that progress with age and extend to the dorsal aspects of the hands and feet. The mal de Meleda is caused by mutations in the SLURP1 gene that encodes secreted lymphocyte antigen 6/urokinase-type plasminogen receptor-related protein 1 (SLURP1). To date no reported cases from Indonesia. The aims of the study were to describe the typical features of mal de Meleda cases in a Javanese family in Indonesia and identify the mutation in the ARS B gene which encodes SLURP1.

Patients and Methods

In this study, three Javanese patients, siblings from nonconsanguineous nonaffected parents, presented with classical symptoms of mal de Meleda. Genetic analysis screening SLURP1 gene was conducted for the specimens from the patients and other family members.

Results

A novel homozygous three-nucleotide deletion in exon 3, i.e. c.271-273TCTdel, was identified in the patients. Subcloning and sequencing revealed both parents (I.2 and I.3) and one of the father's siblings (I.1) carry heterozygous c.271-273TCTdel, while the other father's sibling (I.2), the mother's sister (I.4), and a healthy control matched the ethnicity of the family, showing normal sequence of the entire SLURP1.

Conclusion

This is the first mal de Meleda case of Javanese ethnicity to be documented, and the unique mutation has not previously been reported. The finding supports the notion that despite the rarity, SLURP1 mutation causing mal de Meleda is ubiquitous.

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Teaching & Learning Tips 1: Teaching perspectives – an introduction

Abstract

Challenge: Clinical and research responsibilities often leave little or no time to plan thoughtful teaching encounters with trainees. This "Teaching & Learning Tips" series is designed to be an accessible guide for dermatologists who want to improve their teaching skills. It is comprised of 12 articles about how to enhance teaching in various settings informed by research about how people learn and expert-derived or data-driven best practices for teaching. The series begins with a review of principles to optimize learning in any setting, including cognitive load theory, active learning strategies, and the impact of motivation and emotion on learning. It transitions into a practical "how to" guide format for common teaching scenarios in dermatology, such as lecturing, case-based teaching, and teaching procedures, among others. Herein, we kickoff the series by unpacking assumptions about teaching and learning. What does it mean to teach and learn?

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Quantification of altered tissue turnover in a liquid biopsy: a proposed precision medicine tool to assess chronic inflammation and desmoplasia associated with a pro-cancerous niche and response to immuno-therapeutic anti-tumor modalities

Abstract

Immuno-therapy has begun to revolutionize cancer treatment. However, despite the significant progress achieved in regard to the duration of clinical benefits, a substantial number of patients do not respond to these therapies. To improve the outcome of patients receiving immuno-therapy, there is a need for novel biomarkers that can predict and monitor treatment. Tumor microenvironment alterations, more specifically the state of chronic inflammation and desmoplasia (tumor fibrosis), are important factors to consider in this context. Here, we discuss the potential for quantification of altered tissue turnover in a liquid biopsy as a proposed precision medicine tool to assess chronic inflammation and desmoplasia in the immuno-oncology (IO) setting. We highlight the need for novel non-invasive biomarkers in IO and the importance of addressing tumor microenvironment alterations. We focus on desmoplasia and extracellular matrix (ECM) remodeling, and how the composition of the ECM defines T-cell permissiveness in the tumor microenvironment and opens up the possibility for associated liquid biopsy biomarkers. Moreover, we address the importance of the assessment of chronic inflammation, primarily macrophage activity, in a liquid biopsy.

http://ift.tt/2hAaBjS

Connatal Urinary Ascites in a Female Preterm

Background. Connatal urinary ascites is rare in females without associated malformations and occurs following bladder rupture. Case Presentation. A female very preterm was delivered by caesarean section because of abnormal Doppler findings. The mother suffered from viral pneumonia requiring intensive care in the third trimester of pregnancy. Serial fetal ultrasound examinations showed a megacystis and ascites. Postnatally, pronounced isolated ascites was drained and its urinary nature was confirmed. The bladder leak was demonstrated when blue dye, instilled via a Foley catheter, appeared in the ascitic drain. After removal of the catheter spontaneous micturition was unremarkable. A micturating cystourethrogram showed spontaneous closure of the bladder leak. Conclusion. The female infant experienced fetal bladder rupture and connatal urinary ascites due to maternal pneumonia and intensive care. The use of blue dye is an effective alternative method to any contrast media radiography and should be considered, especially in very preterm infants.

http://ift.tt/2yE73rX

Articaine versus Lidocaine concentration in the palatal tissues after supra-periosteal buccal infiltration anesthesia

Publication date: Available online 10 October 2017
Source:Journal of Oral and Maxillofacial Surgery
Author(s): Haytham Al-Mahalawy., Hatem Abuohashish., Shahanas Chathoth., Naif Al-Masoud., Badr Al-Jandan., Associate
PurposePalatal local anesthetic injection is a painful procedure. Previous studies have reported successful extraction of maxillary teeth using only buccal infiltration of 4% articaine without palatal anesthesia. The aim of the present study was to determine the levels of 4% articaine solution in the palatal bone and mucosal tissues after its buccal injection and compare it with 2% lidocaine solution in New Zealand white rabbits.Materials and MethodsEight rabbits received 2 different injections of 0.6 mL of 4% articaine with 1:100,000 adrenaline and 0.6 mL of 2% lidocaine with 1:100,000 adrenaline buccal to the right and left maxillary first molar, respectively, in a split-mouth study design using quantitative syringes. All the injections were administered using the buccal infiltration technique without any palatal injection. Ten minutes later, the palatal bone and mucosa specimens were collected for analysis. The levels of both local anaesthetic agents were measured in the palatal tissues using high performance liquid chromatography (HPLC).ResultsThe HPLC analysis revealed a significant higher 4% articaine solution values (0.319 ± 0.037) in the palatal mucosal tissues as compared to the palatal mucosal concentrations of 2% lidocaine solution (0.0839 ± 0.017). In palatal bone, the mean concentrations of 2% lidocaine solution was significantly lower than the mean concentrations of 4% articaine solution (0.085 ± 0.012 vs 0.155 ± 0.012, respectively). There was no significant difference between the levels of 2% lidocaine in the palatal bone and mucosal tissues. However, The mean concentration of 4% articaine in the palatal mucosa was significantly higher than its concentration in palatal bone.ConclusionThe buccal vestibule-palatal diffusion of 4% articaine solution with 1:100,000 epinephrine is greater than 2% lidocaine solution with 1:100,000 epinephrine in a rabbit model.

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The role of human papillomavirus in p16 positive oral cancers

Abstract

Background

The aim of the present study was to identify the presence and frequency of human papillomavirus (HPV) nucleic acid in p16 positive oral squamous cell carcinomas (OSCC), to assess if the virus were transcriptionally active, and to assess the utility of p16 overexpression as a surrogate marker for HPV in OSCC.

Methods

Forty-six OSCC patients treated between 2007 and 2011 with available formalin-fixed paraffin embedded (FFPE) specimens were included. Twenty-three patients were positive for p16 by immunohistochemistry (IHC) and these were matched with 23 patients with p16 negative tumours. Laser capture micro-dissection of the FFPE OSCC tissues was undertaken to isolate invasive tumour tissue. DNA was extracted and tested for high-risk HPV types using a PCR-ELISA method based on the L1 SPF10 consensus primers, and a real-time PCR method targeting HPV-16 and HPV-18 E6 region. Genotyping of HPV positive cases was performed using a reverse line blot hybridization assay (Inno-LiPA). RNAScope^® (a chromogenic RNA in situ hybridization assay), was utilized to detect E6/E7 mRNA of known high-risk HPV types for detection of transcriptionally active virus.

Results

HPV DNA was found in 3 OSCC cases, all of which were p16 IHC positive. Two cases were genotyped as HPV-16 and one as HPV-33. Only one of the HPV-16 cases was confirmed to harbour transcriptionally active virus via HPV RNA ISH.

Conclusion

We have shown that the presence of transcriptionally active HPV rarely occurs in OSCC and that p16 is not an appropriate surrogate marker for HPV in OSCC cases. We propose that non-viral mechanisms are responsible for the majority of IHC p16 overexpression in OSCC.

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Functional analysis of ESM1 by siRNA knockdown in primary and metastatic head and neck cancer cells

Abstract

Background

Genetic factors play a large role in cancer and thus there is a great desire to understand the effects of different genes in cancer and to also develop gene therapy for better treatments. Therefore, the development of alternative diagnosis and therapy modalities are of utmost importance. The aim of our study is to illuminate the role of ESM1 (endothelial cell specific molecule-1, also known as Endocan) in proliferation and migration of head and neck cancer, thus helping to pave the way for new treatment modalities and predictive biomarkers.

Methods

ESM1 expression was shown with immunofluorescence assay by using confocal laser scanning microscope in primary and metastatic head and neck cancer cells. ESM1 expression was knocked down by RNA interference in head and neck cancer cells. Knockdown efficiency was evaluated by quantitative real time RT-PCR and western blot. Cell proliferation and migration assays were performed by xCELLigence real time cell analysis system.

Results

Immunofluorescence assay showed nuclear localization and high expression of ESM1 in primary and metastatic head and neck cancer cells. ESM1 mRNA and protein levels were significantly decreased in ESM1-knockdown cells compared to control. ESM1-knockdown cells showed reduced proliferation and migration activity when compared to control cells.

Conclusion

These findings suggest that ESM1 has roles on proliferation and migration of head and neck cancer cells.

http://ift.tt/2g1zRz7

Is use of glycine-containing drugs in anesthesia safe?

The aim of the study was to analyze the eligibility of resorbable collagen membrane in the treatment of midfacial fractures to prevent gap formation and subsequent cheek tissue retraction.

Material and methods

We included nine patients (six males, three females; mean age 51; range 20–73 years; mean bone gap size 8.03 × 13.12 mm) in a retrospective study design. The defect size was assessed by ultrasound.

Results

After a healing period of 4 to 55 weeks, treatment resulted in a significant reduction of gap size (residual mean bone gap size 6.14 × 7.32 mm).

Conclusions

Native resorbable collagen membrane is a promising tool to reduce the size of bony gap in midfacial defects.

http://ift.tt/2xyhpVc

Surgical Morbidity and Mortality in Patients after Microvascular Reconstruction for Head and Neck Cancer

Abstract

Objectives

The aim was to evaluate the importance of clinical factors in the prediction of postoperative complications in patients with microvascular reconstruction for head and neck squamous cell cancer (HNSCC).

Design

A retrospective review of case notes was performed.

Setting

Patients treated at a single institute.

Participants

The present study included 259 patients with HNSCC treated with radical surgery and microvascular reconstruction between 1993 and 2014.

Main outcome measures

We allocated the patients to three groups using a preoperative comorbidity score based on risk factors: group A (≥ 3 risk factors, n=16), group B (2 risk factors, n=49), and group C (0 or 1 risk factor, n=194).

Results

Surgical mortality in this cohort was 1.9% (5 of 259 patients). The preoperative comorbidity score was associated with surgical mortality (p<0.001). Pharyngocutaneous fistula (p=0.001) and flap compromise (p=0.023) were more frequent as preoperative comorbidity score increased. Preoperative comorbidity score (p<0.001), advanced age (p=0.007), advanced pathologic T stage (p=0.028), advanced pathologic N stage (p=0.005), preoperative (chemo)radiotherapy (p<0.001), history of cardiovascular disease (p=0.015) and pulmonary disease (p=0.007), and diabetes (p<0.001) had significant adverse effects on 5-year disease-specific survival (DSS) in a univariate analysis. The 5-DSS rates of groups A, B, and C were 30%, 37%, and 70%, respectively. Multivariate analysis showed that preoperative comorbidity score was significantly correlated with 5-year DSS (hazard ratio [HR], 3.56; 95% confidence interval [CI], 1.81—6.99; p<0.001 for group A and HR, 1.91; 95% CI, 1.15—3.18; p=0.013 for group B compared with group C).

Conclusion

Patients with a high preoperative comorbidity score have an increased risk of surgical mortality and morbidity after microvascular reconstruction for HNSCC.

http://ift.tt/2i4JMbt

Eight weeks of omeprazole 20 mg significantly reduces both laryngopharyngeal reflux and comorbid chronic rhinosinusitis signs and symptoms: randomized, double blind, placebo controlled trial

Abstract

Objectives

Gastroesophageal reflux recommended treatment (dose and duration) with proton pump inhibitor (PPI) compared to placebo significantly reduces the signs and symptoms of laryngopharyngeal reflux (LPR) and comorbid chronic rhinosinusitis (CRS).

Design

Double blind randomized placebo controlled trial.

Setting

Eight weeks of treatment with omeprazole 20 mg once daily (OD).

Participants

60 patients (28 women, aged 19-87 years) with diagnosed LPR and comorbid CRS.

Main outcome measures

Significant reduction of signs and symptoms (reflux symptom index (RSI) score as subjective, and reflux finding score (RFS) as objective measure) of LPR after 8 weeks of treatment with omeprazole 20 mg OD when compared to placebo. Secondary objectives were significant reduction of signs and symptoms of comorbid CRS after 8 weeks of treatment with omeprazole 20 mg OD when compared to placebo; and the association of the severity of signs and symptoms of LPR with the ones of CRS.

Results

RSI and RFS decreased significantly more in the active treatment group after 8 weeks compared to placebo (p<0.001 for both). CRS and endoscopy scoring decreased both significantly more in the active group after 8 weeks compared to placebo (p<0.001 for both). CRS scoring significantly correlated with RSI (R=0.312, p=0.015) but not with RFS (R=0.199, p=0.127).

Conclusions

The results of our trial suggest that omeprazole 20 mg OD for 8 weeks was effective in reducing signs and symptoms of both LPR and CRS, although in most patients still present at the end of the trial.

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Incidence and Preoperative Predictive Indicators of Incudal Necrosis in CSOM: A Prospective Study in a Tertiary Care Centre

Abstract

http://ift.tt/2xxQYE8

Αρχειοθήκη ιστολογίου

Τετάρτη 11 Οκτωβρίου 2017

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