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Hereditary factors are involved in the pathogenesis of atopic dermatitis (AD). However, AD-related gene variations are significantly different across ethnicities.
To identify mutations and single-nucleotide polymorphisms (SNPs) in barrier- or immune-related genes from Korean patients with AD and compare the variations with those observed in nonatopic healthy controls (HCs), and to use novel reverse blot hybridization assay (REBA) for AD-related gene variants.
We carried out REBA to simultaneously detect variations in genes related to barrier or immune function, namely, FLG, SPINK5, KLK7, DEFB1, TNFα, KDR, FCER1A, IL4, IL5,IL5RA, IL9, IL10, IL12, IL12R, IL13 and IL18, from Korean patients with AD, and compared the variation to that in nonatopic healthy controls.
The homozygous mutants of KLK7 and SPINK5-2475, and the heterozygous mutants of FLG 3321delA, SPINK5-1156, DEFB1, KDR, IL5RA, IL9 and IL12RB1 were significantly more frequent in AD. It has been predicted that the larger the number of gene variants, the higher the odds ratio of AD prevalence; however, we did not find any significant correlation between the number of gene variants and AD severity.
Using REBA, we identified more genetic variants that can predict AD occurrence. We also verified that REBA can be used to easily and accurately detect multiple AD-related gene variants simultaneously. In addition, we identified a correlation between KLK7 mutation and AD in Koreans, which is the first such report, to our knowledge.
Staphylococcus aureus colonization is thought to contribute to the pathophysiology of atopic dermatitis (AD). AD patients exhibit reduced levels of cutaneous antimicrobial peptides (AMPs), which may explain their increased susceptibility to infections. Using an in vitro reconstructed human epidermis (RHE) model, we sought to determine whether topical application of a non-replicating probiotic, heat-treated Lactobacillus johnsonii NCC 533 (HT La1), could inhibit S. aureus adhesion to skin and boost cutaneous innate immunity. We found that application of HT La1 suspension to RHE samples reduced the binding of radiolabeled S. aureus by up to 74%. To investigate a potential effect of HT La1 on innate immunity, we analyzed the expression of nine AMP genes, including those encoding beta defensins and S100 proteins, following topical application of HT La1 in suspension or in a daily moisturizer lotion. Analyzed genes were induced by up to four-fold in a dose-dependent manner by HT La1 in suspension, and by up to 2.4-fold by HT La1 in the moisturizer lotion. Finally, using ELISA and immunohistochemical detection, we evaluated the expression and secretion of the AMPs hBD-2 and psoriasin, and determined that both proteins were induced by topical HT La1, particularly in the stratum corneum of the RHE. These findings demonstrate that a topically applied, non-replicating probiotic can modulate endogenous AMP expression and inhibit binding of S. aureus to an RHE model in vitro. Moreover, they suggest that a topical formulation containing HT La1 could benefit atopic skin by enhancing cutaneous innate immunity and reducing S. aureus colonization.
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Staphylococcal scalded skin syndrome is an exfoliating skin disease which primarily affects children. Differential diagnosis includes toxic epidermal necrolysis, staphylococcal scalded skin syndrome, epidermol...
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Dlx4 is a member of a family of homeobox genes with homology to Drosophila distal-less (dll) gene. We show that Dlx4 expression pattern partially overlaps with its cis-linked gene Dlx3 during mouse development as well as in neonatal and adult skin. In mice, Dlx4 is expressed in the branchial arches, embryonic limbs, digits, nose, hair follicle and in the basal and suprabasal layers of mouse interfollicular epidermis in neonatal and adult skin. We show that inactivation of Dlx4 in mice did not result in any overtly gross pathology. Skin development, homeostasis and response to TPA treatment was similar in mice with loss of Dlx4 compared to wild type counterparts.
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HPV-related head and neck cancer rates have been increasing in recent years, with the tonsils being the most commonly affected site. However, the current rate of HPV infection in the pediatric population remains poorly defined. The objective of this study was to systematically review and evaluate the prevalence and distribution of HPV in the tonsils of pediatric patients undergoing routine tonsillectomy.
The literature was searched using PubMed, EMBASE, Scopus, CINAHL, Cochrane Library, and ProQuest Dissertations & Theses Global databases (inception to December 2017) by two independent review authors. Inclusion criteria included articles which evaluated the prevalence of HPV in a pediatric cohort without known warts or recurrent respiratory papillomatosis, those which used tonsil biopsy specimens for analysis, and those with six or more subjects and clear outcomes reported. Eleven studies met the inclusion criteria. Using the Oxford Clinical Evidence-based Medicine (OCEBM) guidelines, two reviewers appraised the level of evidence of each study, extracted data, and resolved discrepancies by consensus. The systematic review identified 11 articles (n = 2520). Seven studies detected HPV in the subject population, with prevalence values ranging from 0 to 21%. The level of evidence for all included studies was OCEBM Level 3.
HPV may be present in pediatric tonsillectomy specimens; however, the largest included study demonstrated a prevalence of 0%. Future testing should be performed using methods with high sensitivities and specificities, such as reverse transcript real-time PCR or digital droplet PCR.
We present an unusual case where symptoms of headache and chest pain persisted for 3 years following the implantation of a septal occluder device for an atrial septal defect despite endothelialisation of the device. The patient was found to have nickel hypersensitivity on patch testing. Following the removal of the device the patient had complete resolution of headaches and chest pain up to 10 months post-explantation.
Facial plast Surg
DOI: 10.1055/s-0037-1621730
Cosmetic facial filler-related central retinal artery occlusion (CRAO) is a devastating complication of facial hyaluronic acid (HA) injection and can be managed by intra-arterial thrombolytic therapy (IATT). The authors report on a 20-year-old woman who developed unilateral CRAO due to facial HA injection and who, despite prompt IATT, lost vision. A review of the related literature found 14 other female patients who developed cosmetic facial filler-related CRAO and accepted IATT management. In no case was vision loss clinically improved. IATT is not an effective preventive treatment of dermal filler-associated CRAO. The authors suggest careful preprocedural patient selection to prevent this complication.
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Laryngo-Rhino-Otol
DOI: 10.1055/s-0044-100257
© Georg Thieme Verlag KG Stuttgart · New York
Article in Thieme eJournals:
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The purposes of this study were to evaluate a model of slow caries progression and to investigate the performance of a self-etch adhesive system for partial caries removal.
Rat molars were infected with Streptococcus sobrinus 6715 culture. Different time points were analyzed: days 78, 85, and 95 (± 2). After this, the samples were processed for morphological analysis. Additionally, the first molars were restored with zinc oxide and eugenol (IRM™; Dentsply; Brazil) or adhesive system (Clearfil SE Bond™; Kuraray Medical; Japan) 78 days after caries induction. After, 3 or 15 days post-treatment, the animals were euthanized, and their mandibles were processed for morphological analysis, classified by means of scores, and submitted to statistical analysis. Subsequently, immunohistochemical analysis was performed for osteonectin (OSN) and transforming growth factor-ß1 (TGF-ß1) expression.
According to the caries induction model used, on day 95 greater inflammatory infiltration (p < 0.001), and more extensive degradation of secondary/primary dentin were demonstrated than on day 78 (p < 0.05). Furthermore, the restorative materials presented similar performance (p > 0.05) and proved to be fundamental to control the carious lesion. The TGF-ß1 and OSN were shown to be active during the caries process.
The slow caries lesion model was feasible for morphological analysis of the dentin-pulp complex. The self-etch adhesive system triggered no acute inflammatory infiltration or pulp necrosis, instead it seemed to stimulate early pulp repair.
Clearfil SE Bond™ applied directly on caries-affected dentin did not predispose to pulp inflammation; instead, it appeared to provide early biological benefits.
Monoclonal Antibodies in Immunodiagnosis and Immunotherapy , Vol. 0, No. 0.
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Background. Infectious endocarditis (IE) typically occurs in the setting of intravenous drug use, prosthetic heart valves, or rheumatic heart disease. However, there are a few reports of IE occurring in the setting of immunosuppression secondary to cancer and/or chemotherapy. Here, we present a case of a cancer patient who developed anterior spinal artery (ASA) syndrome secondary to a septic embolus from IE. Case Presentation. A 78-year-old male with a history of gastroesophageal cancer treated with chemotherapy and radiation presented to the hospital after a fall at home. He reported experiencing dyspnea and orthopnea for two weeks prior to presentation. In the ED, his vital signs were stable, and his examination was significant for a flaccid paralysis of the right lower extremity. Diagnosis of septic emboli secondary to IE was made after the echocardiogram showed the presence of vegetations on the aortic valve, blood cultures were positive for Streptococcus mitis, and thoracic spine MRI was indicative of an infarction at T10. Discussion. This case highlights the presence of IE in the setting of cancer and chemotherapy. Although cancer is a rare cause of IE, clinicians must maintain a high index of suspicion in order to minimize the sequelae of IE.
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Adalimumab is a well-established treatment for chronic plaque psoriasis. While many clinical trials have shown its efficacy, few studies have looked at deviations from labeled dosing in the real-world setting.1 The aim of this study was to determine the frequency of off-label dosing in patients with psoriasis on adalimumab and the reasons for these deviations.
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Facial dermatitis (FD) is a common problem encountered in clinical practice. It effects patients' self-esteem and quality of life. Mild reactions such as itching, pricking, dryness can occur in more than 10% of patients[1]. Recurrence is common in FD. The cause of FD is often difficult to determine. Metals, cosmetics, air pollution and physical factors such as wind or changes in temperature and humidity in the environment may all contribute to the development of FD[2]. Patch test is useful in establishing the identification of FD[1,2]. The present study was carried out to determine the incidence and role of contact allergy in FD, using the Chinese Baseline Series and Cosmetic Series.
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Acne vulgaris is one of the main reasons for dermatological consultations. Severity and response to treatment may be impacted by various external factors or exposome.
to assess the impact of environmental factors on acne and to provide a comprehensive overview of the acne exposome.
two consensus meetings of five European dermatologists and a comprehensive literature search on exposome factors triggering acne served as a basis for this review.
acne exposome was defined as the sum of all environmental factors influencing the occurrence, duration and severity of acne. Exposome factors impact on the response and the frequency of relapse to treatments by interacting with the skin barrier, sebaceous gland, innate immunity and cutaneous microbiota. They may be classified in the following six main categories: nutrition, psychological and lifestyle factors, occupational factors including cosmetics, as well as pollutants, medication and climatic factors. Moreover, practical considerations for the dermatologist's clinical practice are proposed.
Exposome factors including nutrition, medication, occupational factors, pollutants, climatic factors, and psychosocial and lifestyle factors may impact on the course and severity of acne and on treatment efficacy. Identifying and reducing the impact of exposome is important for an adequate acne disease management.
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Merkel cell carcinoma (MCC) is a rare malignant neuro-endocrine tumor of the skin that shows aggressive behavior and has a high tendency for local recurrence and lymph node or distant metastasis.1 Recently, some reports have stated that 18-fluorodeoxyglucose positron emission tomography-computer tomography (FDG PET-CT) is more useful than conventional CT.2, 3 However, the utility of FDG PET-CT for determining the proliferative or metabolic activity of MCC is unclear. In this study, we investigated the correlation between FDG uptake and proliferative of metabolic activity as revealed by PET-CT imaging with Ki-67 immunological staining or GLUT-1 immunological staining in 10 cases of MCC. In addition, we tested the correlation between FDG uptake and tumor volume.
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An 82-year-old man with a prostate adenocarcinoma, started eight years before a treatment with oral bicalutamide 50 mg daily and subcutaneous goserelin 10,8 mg each three months, an antiandrogen and a LHRH analogue, respectively. The rest of his past medical history was unremarkable. A few months after starting with the treatment, he began with recession of the frontotemporal hairline also with hypopigmentation and atrophy of the areas of alopecia and loss of axillary and pubic hair (Figure 1). He did not present any clinical signs or patterns of male androgenetic alopecia. He denied having any siblings or kindreds with a scarring alopecia and therefore a familial FFA was excluded. Laboratory test showed low levels of prostate specific antigen (0,024ɥg/L) and undetectable free serum testosterone levels (<0,1 nmol/L). A biopsy on the scalp revealed a lichenoid lymphocitic inflammatory infiltrate, important fibrosis with loss of elastic fibers and hair follicle destruction (Figure 2,3). The clinical and histopathological features were consistent with frontal fibrosing alopecia. He is still having this treatment in order to prevent the progression of the prostate adenocarcinoma.
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Acne represents an established cutaneous manifestation of hyperandrogenism (1). There are scarce studies of androgenic signs or disorders including polycystic ovary syndrome (PCOS), hirsutism, menstrual irregularities or androgenic alopecia, in patients with acne.
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Oncologic outcomes of human papillomavirus (HPV)-related oropharyngeal squamous cell carcinoma (SCC) requiring resection of major muscular or neurovascular tissue during neck dissection for invasive nodal disease remain uncertain.
Patients with HPV-related oropharyngeal SCC requiring resection of major muscular or neurovascular tissue during their neck dissections were retrospectively identified.
Seventy-two patients were included. Regional and distant recurrences occurred in 6% and 17% of patients. Advanced T classification, pathological node number of 5 or more, and omission of adjuvant therapy were associated with decreased disease-free survival (DFS). The addition of adjuvant chemotherapy was not associated with improved survival.
Patients with invasive nodal disease from HPV-related oropharyngeal SCC can be managed with up-front surgery and adjuvant therapy, as indicated with good regional control. Although distant recurrence was the primary site of failure, adjuvant chemotherapy was not associated with improved outcomes. The T classification, node number, and adjuvant radiotherapy are independent prognostic factors in this patient population.
Oral verrucous hyperplasia is commonly observed in the oral cavity of betel quid chewers and is a potential malignant disorder. However, the prognostic factors and genetic alterations of oral verrucous hyperplasia are unclear.
We calculate the survival rate and prognostic factors using a Kaplan-Meier analysis and Cox proportional hazards regression model. Copy number variations were analyzed using a single-nucleotide polymorphism (SNP) array.
The 5-year disease-free and cancer-free survival rates of patients with oral verrucous hyperplasia were approximately 40% and 70%, respectively. Heavy betel quid chewing, advanced oral submucous fibrosis, and nonbuccal and nontongue lesions were risk factors for malignant transformation, whereas dysplasia did not affect outcomes. The gene amplification of CTTN, FOLR3, ORAOV1, PPFIA1, and RNF121 were associated with the poor prognosis of oral verrucous hyperplasia.
Heavy betel quid chewing, advanced oral submucous fibrosis, and nonbuccal and nontongue lesions are high-risk factors of patients with oral verrucous hyperplasia. The 5-copy number variation-associated genes could be used for early diagnosis and predicting the prognosis.
Description
After a 1-year history of increasing mechanical back pain, a 30-year-old Chadian man with no medical record progressively developed a voluminous paravertebral mass (figure 1A). He described night sweats without fever for several months associated with a 20 kg weight loss (admission weight at 68 kg). Physical examination revealed no neurological defect. Laboratory tests showed a biological inflammatory syndrome with C reactive protein (CRP) plasmatic level at 80 mg/L and fibrinogen at 5.1 g/L. A vertebral MRI showed a T11–T12 vertebral osteomyelitis with a discal and corporeal abscess surrounded by important adjacent bone oedema, epiduritis causing mild spinal cord compression, as well as voluminous, prevertebral (12x8x5 cm), left psoas (9x8x8 cm) and retrovertebral (16x5x4 cm) liquid collections with peripheral contrast enhancement, suggestive of abscesses (figure 1B–D). Culture of the punctured collection of the retrovertebral abscess yielded multisusceptible Mycobacterium tuberculosis. Body scan revealed no other disease localisation. HIV serological test was negative and...
An 84-year-old woman presented with severe postural hypotension. Further assessment revealed weight loss, fatigue and fever at night. On examination, she had bilateral skin lesions on the inner thighs and skin biopsy revealed intravascular high grade B cell lymphoma. This was successfully treated with curative chemotherapy. The cause of the postural hypotension in this case was felt likely to be autonomic neuropathy caused by neurovascular infiltration by intravascular lymphoma. Treatment of the lymphoma has resolved the postural hypotension, although some symptoms of postural instability persist.
Description
A 5-year-old boy presented with fever and cough of 2 weeks' duration, conjunctivitis and lip swelling with blistering for 6 days, and 1 day of skin rash. His past medical history was significant for incomplete Kawasaki disease (KD) at 3 years of age with no cardiac sequelae. Significant findings on physical examination included bilateral conjunctival injection with perilimbic sparing, red and cracked lips with crusting, oral mucositis and ulcerations of the buccal mucosae and tongue (figure 1), and a mild generalised maculopapular rash. He was systemically well otherwise, and there were no target lesions evident on his skin.
Figure 1
Oral mucositis with blistering of lips in a patient with Fuchs syndrome.
Differential diagnoses at that point included recurrent incomplete KD, Stevens-Johnson syndrome (SJS) and gingivostomatitis. However, oral mucositis was not consistent with KD. Furthermore, the absence of any skin...
Cryptosporidium, a parasitic infection commonly associated with diarrhoea, may be difficult to differentiate from a flare in patients with inflammatory bowel disease and can lead to unnecessary therapy and increase in morbidity and mortality. We report the case of a paediatric patient who had substantial stool output requiring significant fluid resuscitation and who was later diagnosed with cryptosporidium on endoscopic biopsy. Diagnostic work up for cryptosporidium should be strongly considered when a patient presents with a flare involving massive stool output.
A 7-year-old boy presented to Paediatric outpatient with worsening lethargy and tiredness. On examination he had extreme pallor. Blood investigations confirmed severe iron deficiency anaemia. He was started on iron supplements and received blood transfusion. However, the response to iron treatment was suboptimal, he therefore underwent extensive workup for the cause of iron deficiency anaemia. The barium meal showed dilated segments of ileum with two distal stenoses. The surgical resection of the involved segment was performed with end to end anastamosis. Histology of the resected segment was inconclusive of inflammatory bowel disease, malignancy or vascular malformation. The child has remained well since surgery with no further blood transfusion or iron therapy.
Description
Incomplete non-puerperal uterine inversion is a rare complication that can arise secondary to the presence of submucous fibroid.1 In the majority of cases reported in the literature, the definitive diagnosis is usually made at the time of hysterectomy.2 In reported cases where hysterectomy was not done, Haultain procedure was done to correct the inversion.3 In the following case, the diagnosis was made preoperatively and the fibroid was resected vaginally by LigaSure.
A 31-year-old nulliparous woman presented to the emergency room with history of excessive bleeding for a few months. She also had urine retention for 1 day. On examination, she was pale. Vaginal examination showed a large mass distending the vagina with foul smell and moderate bleeding. Her haemoglobin was 6.2 g/L. Pelvic ultrasound scan was not conclusive in ascertaining the origin of the mass. MRI revealed the presence of a pedunculated,...
The authors describe a case of a life-threatening diabetic emergency 25 days after initiation of nivolumab (3 mg/kg) for stage 4 lung adenocarcinoma. She was admitted to the emergency department, with hyperglycaemia-related signs and symptoms, such as polyuria, polydipsia, weight loss, confusion, asthenia, dehydration, hypotension and Kussmaul respiratory pattern. Her body mass index was 21.9 kg/m2 and she did not show acanthosis nigricans. Arterial blood gas determination revealed high anion gap metabolic acidaemia and blood tests showed hyperglycaemia (1060 mg/dL), hyperketonaemia (beta-hydroxybutyrate: 6.6 mmol/dL), elevated total serum osmolality (389 mOsm/kg), low serum and urinary C-peptide and positive antiglutamic acid decarboxylase antibodies. Since nivolumab was initiated a few days before, and due to its known immune-mediated endocrine adverse events, we assumed the diagnosis of new onset immune-mediated type 1 diabetes mellitus. After prompt and adequate treatment of diabetic ketoacidosis/hyperosmolar hyperglycaemic state, she was discharged improved on multiple daily injections of insulin.
Sublingual immunotherapy (SLIT) has emerged as an effective and exceptionally safe method of treatment of the atopic patient. However, the optimal number of allergens that should be included in the SLIT treatment regimen for the polysensitized patient is not known and practices vary widely. This study aims to compare the efficacy of single-allergen SLIT with pauci-allergen vs multiallergen aqueous SLIT in polysensitized patients.
Sixteen subjects sensitized to 6+ allergens were enrolled in the study. Subjects were blinded and randomized to SLIT treatment groups that included 1 (single), 3 (pauci), or all sensitized allergens (multi). Allergens selected were those to which the patient was most sensitized and correlated with history. Primary outcomes included daily allergy medication use, weekly Rhinoconjunctivitis Symptom Score (RCSS), and the mini–Rhinoconjuncitivitis Quality of Life Questionnaire (m-RQLQ). All metrics were measured at baseline, 6 weeks, 3 months, 6 months, and 9 months.
There were significant decreases from baseline in RCSS and m-RQLQ scores in all study groups at each interval after beginning SLIT (p < 0.05). There was no significant decrease in number of daily allergy medications used regardless of number of allergens in patient's treatment vial (p = 0.50). No significant differences emerged based on number of allergens used.
Single-antigen, pauci-antigen, and multiantigen aqueous SLIT significantly improved allergy symptoms. There was no significant difference observed in efficacy of single-allergen SLIT vs pauci-allergen or multi-allergen SLIT in polysensitized patients.
Sunlight exposure affects all skin types causing skin tanning, burns or even skin cancer. Sunscreens were invented to prevent these outcomes by scattering or absorbing the UV light.
This study aimed to verify the effectiveness of Mansur method in SPF measurement and to find out how much reliable the labeled sun protection factor (SPF) value for the products that are imported to Palestine knowing that they are considered as cosmetics and they don't undergo tests by the Ministry Of Health (MOH).
In this research, sun protection factor (SPF) was determined for 16 commercially available sunscreen products using Mansur equation which was also validated; moreover sunscreen classification, product phase determination and pH measurement were also done.
Sun protection factor values were mostly 50, 43.75% of the analyzed samples were close to the labeled SPF, 31.25% were under the labeled value, and 25% SPF value above the labeled value. All samples exhibited a pH close to skin pH. 62% of them were found to be O/W. Cosmetic companies and importers should focus on pediatric sunscreens, since only 12.5% are pediatric sunscreens.
Ministry Of Health should ask prove about the quality of an SPF value of sunscreens for final registration of these products. More instructions should be available on the label regarding the proper use especially, if they are not water proof.
An ex vivo case series aimed at identification of normal laryngeal tissue from laryngeal epidermoid squamous keratinized carcinoma by measuring laser-induced autofluorescence (LIAF) and Fourier transform infrared–attenuated total reflectance (FTIR-ATR) spectra is presented. The case series results were obtained for paired samples extracted from three patients (exclusion: macroscopic changes of normal vocal cord observed during surgery; surgical intervention on vocal cord, treated only with chemotherapy or radiotherapy for carcinoma; inclusion: men, aged 57–68, non-smokers). For LIAF analysis, a 375-nm picosecond pulsed laser diode with 31 MHz pulse repetition rate, 100 ps full-time width at half-maximum, and average power 0.49 μW was used. LIAF and FTIR-ATR spectra show noticeable differences between normal and malignant tissues. LIAF spectra differed in shape of emitted band, peak position, and band relative intensity of the two kinds of samples, evidencing hypsochromic shift and mean fluorescence intensity decrease of (75.42 ± 3)% in malignant tissue with respect to the normal one. The lack of 1745 cm−1 band in FTIR-ATR spectra for malignant tissues could be considered an important indicative of the presence of this kind of tissue; moreover, it resulted a greater contribution of lipids and proteins in normal tissue and of collagen in malignant tissue. Penetration depth of the evanescent wave was about 2 μm at an angle of 42°. The two spectroscopic methods are complementary, are applicable for real-time measurements, and may enhance cancer detection and diagnostics. Results presented in this study evidence the potential of the two methods for future in vivo studies.
The development of food allergies is increasingly being recognized as a post-solid organ transplant complication. In this article, we review the spectrum of post-transplant food allergy development and the proposed mechanisms for de novo food allergies and the clinical significance they pose.
The development of new food allergies is disproportionately associated with pediatric liver transplants, where it occurs in up to 38% of select populations. The mechanism of food allergy development is not completely understood; however, it is likely promoted by unbalanced immune suppression.
De novo food allergy development is a common complication of solid organ transplants with the highest risk occurring in pediatric liver transplant recipients. There are likely multiple mechanisms for food allergy development including passive transfer of membrane-bound IgE and lymphocytes from donor to recipient, as well as loss of food tolerance and active development of new food allergies. The optimal management of food allergies following organ transplants has not been well researched but may include changing the immune suppression regimen if the food allergy does not resolve without intervention.
Recently, the MSLT-II1 and DeCOG2 clinical trials have failed to demonstrate a benefit for the lymphadenectomy vs. observation in the setting of a patient with positive sentinel lymph node biopsy. Therefore, it is expected in the short term an increase in the patients with a more conservative management and obviously, more regional recurrences.
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The occurrence of false-positive blood cultures in patients with acute myeloid leukemia has been rarely described in the literature. Awareness of this finding is important to avoid unnecessary delays in initiating appropriate cytoreductive therapy. Here, we present the case of a 70-year-old male with acute leukemia and persistently positive blood cultures despite broad-spectrum antibiotic therapy. No source of infection could be found clinically, and no pathogen could be isolated from blood cultures. Inspection of the CO2 plots of the positive blood cultures showed a steady linear increase in CO2 levels, suggesting false-positive detection by the automated microbial detection system. Cytoreductive therapy was then initiated, and several subsequent blood cultures were negative.
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Head and neck schwannomas comprise 25–40% of all schwannomas, with presentation on the lips as the rarest and most surgically complicated site for perioral tumors. A systematic literature review was conducted to include 21 cases of patients with schwannoma of the upper or lower lips. The majority of patients presented with a single, painless, well-encapsulated nodule on the upper or lower lips. The nodules were consistently slow-growing, with an average 29.3 months from symptom onset to clinical presentation. Most cases were complicated by profound cosmetic disfigurement as well as dysphagia, dysarthria, snoring, and/or sleep apnea. Overall, histological analysis was consistent with classic schwannoma, and all cases were treated via complete surgical excision, and for malignant tumors, additional therapy was utilized. All but four cases achieved full remission by final follow-up. Recurrence rate for benign lip schwannomas was 5.3%, which is remarkably different from the standard recurrence rate of 8–24% for benign peripheral schwannomas. Additionally, the proportion of malignant tumors was greater for lip schwannomas than other schwannomas. Lip schwannomas demonstrate different characteristics than schwannomas from other locations on the body, and these remarkable differences highlight significant implications for clinical practice. Complete excision is the primary mode of treatment with overall excellent postoperative prognosis and rare instances of recurrence. Given the rarity of this tumor, this review of available cases serves to comprehensively describe clinical presentation and surgical treatment approaches to upper and lower lip schwannomas.
Climate change contributes to the increase in severity and frequency of flooding, which is the most frequent and deadly disaster worldwide. Flood-related damage can be very severe and include health effects. Among those health impacts, dermatological diseases are one of the most frequently encountered. Both infectious and noninfectious dermatological conditions are increasing after flooding. We searched PubMed using the search term climate change OR global warming OR rainfall OR flooding OR skin. Articles published in the English-language literature were included. We also searched the International Society of Dermatology website library on climate change for additional articles. There is an increased risk of trauma during the course of a natural disaster. The majority of post-tsunami wound infections were polymicrobial, but gram-negative bacteria were the leading causes. Infectious diseases with dermatological manifestations, such as impetigo, leptospirosis, measles, dengue fever, tinea corporis, malaria, and leishmaniasis, are important causes of morbidity among flood-afflicted individuals. Insect bites and stings, and parasite infestations such as scabies and cutaneous larva migrans are also frequently observed. Inflammatory conditions including irritant contact dermatitis are among the leading dermatological conditions. Dermatological conditions such as alopecia areata, vitiligo, psoriasis, and urticaria can be induced or exacerbated by psychological conditions post disaster. Prevention is essential in the management of skin diseases because of flooding. Avoiding exposure to contaminated environments, wearing protective devices, rapid provision of clean water and sanitation facilities, prompt vector controls, and education about disease risk and prevention are important.
Chemotherapy-induced alopecia (CIA) is one of the most troubling long-lasting side effects of cancer treatment. An estimated 65% of patients undergoing classic chemotherapy will experience hair loss, which is an extremely upsetting adverse event for many. CIA has been traditionally considered to be a diffuse, nonscarring alopecia; however, there are increasing reports of permanent hair loss post chemotherapy. Despite its large impact on patients, there are few proven treatments for CIA. Recent advancements in understanding the pathogenesis of hair loss are promising novel preventative and therapeutic strategies. Currently, scalp cooling during chemotherapy is the most effective preventive intervention with response rates ranging from 50 to 80%. To avoid patient morbidity, clinicians should be aware of the pathogenesis of CIA, characteristic patterns of hair loss associated with specific drug regimens, preventive measures that may be taken, and therapeutic options post chemotherapy. The following represents an updated systematic review of CIA, including characteristic clinical patterns, pathophysiology of the disease, therapeutic approaches, as well as a cost-effective analysis to assess the significance of this toxicity.
Understanding the effects of age on the epidemiology of diseases primarily affecting the skin is important to the practice of dermatology, both for proper allocation of resources and for optimal patient-centered care. To fully appreciate the effect that age may have on the population-based calculations of incidence of diseases primarily affecting the skin in Olmsted County, Minnesota, and worldwide, we performed a review of all relevant Rochester Epidemiology Project–published data and compared them to similar reports in the worldwide English literature. Using the Rochester Epidemiology Project, population-based epidemiologic studies have been performed to estimate the incidence of specific skin diseases over the past 50 years. In older persons (>65 years), nonmelanoma skin cancer, lentigo maligna, herpes zoster, delusional infestation, venous stasis syndrome, venous ulcer, and burning mouth syndrome were more commonly diagnosed. In those younger than 65 years, atypical nevi, psoriatic arthritis, pityriasis rosea, herpes progenitalis, genital warts, alopecia areata, hidradenitis suppurativa, infantile hemangioma, Behçet's disease, and sarcoidosis (isolated cutaneous, with sarcoidosis-specific cutaneous lesions and with erythema nodosum) had a higher incidence. Many of the incidence rates by age group of diseases primarily affecting the skin derived from the Rochester Epidemiology Project were similar to those reported elsewhere.
Harlequin ichthyosis (HI) is a severe genetic disorder caused by the mutation in the ABCA12 gene. Infants born with this condition have markedly thickened, hard stratum corneum skin all over the body.
A female child born with a thick white plate of skin with deep cracks all over the body was investigated for genes associated with congenital Ichthyosis by Next Generation sequencing. The variant relevant to the clinical indications was identified using Picard and GATK version 3.6. Variant's pathogenicity was predicted by "in silico" tools like Mutation Taster 2, Mutation Assessor and LRT. Bidirectional Sanger sequencing further validated the same variant detected in the proband and confirmed in the parental blood and CVS.
A homozygous 5′ splice site variation that affects the position at 4 nucleotides downstream to the donor proximal splice site of intron 40 (c.5939+4A>G; ENST00000272895) of the ABCA12 gene was detected in the proband, and the parents were heterozygous for the same variant. This led to the confirmation of diagnosis of Harlequin ichthyosis in the proband. "In silico" prediction of the variant was found to be damaging by MutationTaster2. The CVS sample during subsequent pregnancy was confirmed to be heterozygous for the same variant.
The novel intronic mutation found in the proband confirmed the clinical diagnosis as a severe type of HI and has helped the family in providing precise genetic counseling for further prevention of the disease and carrier screening of other family members.
Atopic asthma is associated with elevated type-2 biomarkers such as fraction of exhaled nitric oxide (FeNO) and blood eosinophil (B-Eos) count. However, increased type-2 markers have also been reported in traditionally-defined non-atopic asthma.
To determine a clinically useful level of IgE sensitisation for ruling out type-2 asthma.
Asthmatics (N = 408; age 10-35 years) were analysed using the multi-allergen tests Phadiatop and fx5 (ImmunoCAP). Subjects were grouped based on IgE-antibody concentrations: ≥ 0.35 kUA/L for at least one test (n=326) or < 0.35 kUA/L for both tests (n=82). Τhe latter group was subsequently divided into two groups: IgE 0.10-0.34 kUA/L (n=34) and IgE < 0.10 kUA/L (n=48). The relationships between type-2 biomarkers, and inadequate asthma control (ACT < 20), reduced lung function (FEV1 < 80%), recent asthma attacks, and airway hyperresponsiveness (AHR) to methacholine were determined.
In univariate analyses, at least one type-2 marker related to each asthma outcome in subjects with IgE ≥ 0.35 kUA/L. In subjects with IgE 0.10-0.34 kUA/L, elevated FeNO related to reduced lung function (p=0.008) and B-Eos to AHR (p = 0.03). No associations were found in subjects with IgE < 0.10 kUA/L. In multivariate analysis, a relationship between FeNO and reduced lung function remained in subjects with IgE < 0.35 kUA/L (p = 0.03).
Clinically relevant elevation of type-2 biomarkers was seen in young asthmatics with IgE antibodies < 0.35 kUA/L, but not those with IgE < 0.10 kUA/L. It seems possible to define non-type 2 asthma through sensitive IgE-antibody measurement.
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Nut allergy varies from pollen cross-allergy, to primary severe allergy with life-threatening symptoms. The screening of IgE antibodies to a wide spectrum of allergens, including species-specific and cross-reactive allergens, is made possible via microarray analysis.
We sought to study the association of variable IgE sensitization profiles to clinical response in peanut-challenged children and adolescents in a birch-endemic region. In addition, we studied the avoidance of tree nuts and species-specific sensitizations.
We studied 102 peanut-sensitized patients who underwent a double-blind placebo-controlled challenge to peanut. We analyzed ISAC ImmunoCAP microarray to 112 allergens, singleplex ImmunoCAPs for hazelnut Cor a 14 and cashew Ana o 3, and performed skin prick tests to peanut, tree nuts and sesame seed. We surveyed avoidance diets with a questionnaire.
Sensitization to PR-10 proteins was frequent (Bet v 1 90%), but equally high in the challenge negatives and positives. IgE to Ara h 2 and Ara h 6 discriminated peanut allergic (n=69) and tolerant (n=33) the best. Avoidance of tree nuts was common (52 to 96%), but only
6 to 44% presented species-specific sensitizations to tree nuts, so a great number could potentially introduce these species into their diet.
PR-10-sensitizations were frequent and strong regardless of peanut allergy status. Component resolved diagnostics can be employed to demonstrate to patients that sensitization to seed storage proteins of tree nuts is uncommon. Several tree nuts could potentially be reintroduced to the diet.
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Chronic respiratory diseases affecting adults and children are widely prevalent, so lung function testing is imperative for diagnosis and management. Spirometry is the traditional standard measure of lung function; however, certain groups of patients are unable to provide accurate and reproducible exhalation maneuvers. Consequently, the impedance oscillometry system (IOS) has been developed as an effort, independent technique to assess airway function in children and the elderly. To better understand this emerging modality, the following review will compare IOS with spirometry, examine the function of the device, provide interpretation strategies, and discuss the evidence supporting its use in adults and children with chronic lung disease.
In a population of symptomatic adults with suspected COPD, impedance oscillometry resistance measurements correlate with FEV1 and lung resistance increases with the severity of airflow limitation. In patients with asthma, IOS is a sensitive measure of airway hyperresponsiveness and bronchodilator response.
Impedance oscillometry is evolving as an alternative measure to assess lung function pediatric and adult populations.
Ultraviolet B (UVB) irradiation-induced skin inflammation leads to epidermal depletion of Langerhans cells (LCs), which is followed by a rapid influx of monocytes.(1) Approximately 10% of Northern Europeans carry loss-of-function mutations in the filaggrin gene (FLG) which cause partial or complete lack of epidermal filaggrin and filaggrin metabolites.(2) Deficit of the filaggrin metabolite trans-urocanic acid has been shown to cause an increased keratinocyte photosensitivity to UVB irradiation in human skin models.(3)
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