Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study

Abstract

Herein we describe the usefulness of a successful combination of dermoscopy and in vivo RCM for the early diagnosis of 3 AM in 2 OCA patients OCA is a group of rare autosomal recessive disorders of pigmentation. It consists in the absence or reduction of melanin in the skin, hair, and eyes due to a partial or total deficit in the activity of tyrosinase(TYR)¹ or other related genes^2,3. Those patients are at higher risk of non melanoma skin cancer, while still debated is their increased risk of melanoma, in particular amelanotic⁴. They usually lack in clinical and dermoscopic pattern, what makes them challenging to be diagnosed, especially at early stage.

This article is protected by copyright. All rights reserved.

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Heterogeneity of trichoscopy findings in dissecting cellulitis of the scalp: correlation to disease activity and duration

Abstract

dissecting cellulitis of the scalp (DCS) is a chronic inflammatory condition characterized by recurrent nodules, abscesses and sinus tract formation.^1-3 It usually starts as a simple folliculitis with occlusion of follicular openings mainly on the scalp vertex or nape, generally followed by perifollicular pustules and painful firm or fluctuant nodules releasing a purulent discharge, either spontaneously or after a gentle pressure.

This article is protected by copyright. All rights reserved.

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The association between psoriasis and coeliac disease

Psoriasis is known to be associated with inflammatory comorbidities. Coeliac disease (CD) is an immune-mediated enteropathy caused by permanent intolerance to dietary gliadin, which is present in wheat, barley, and rye.¹ The disease occurs in predisposed individuals, and is characterized clinically by malabsorption and histologically by villous atrophy and crypt hyperplasia, which improves when the causal antigen is removed through a gluten-free diet.¹ We investigated the relationship between psoriasis and CD in Denmark.

This article is protected by copyright. All rights reserved.

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Aspiration of Aluminum Beverage Can Tab: Case Report and Literature Review

We describe the case of a 16-year-old male who aspirated a beverage can tab resulting in significant functional impairment. Since the introduction of beverage can opening tabs ("pop-tops" or "pull-tabs") nearly 50 years ago, five cases of their aspiration have been reported in the literature and this is the first case to report tracheal lodgment. We describe the clinical course for this patient including the inadequacy of radiographic evaluation and a significant delay in diagnosis. We highlight unique features of small aluminum foreign bodies that require consideration and mention a potential change in epidemiology associated with evolving product design. Our primary objective is increased awareness among otolaryngologists that radiography is unreliable for diagnosis or localization of small aluminum foreign bodies. The patient history must therefore be incorporated with other imaging modalities and/or endoscopic evaluation. Also, given the marked prevalence of aluminum beverage cans, we suspect that the inadvertent aspiration of can tabs is more common than indicated by the paucity of published reports.

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Phase I randomized study of KHK4083, an anti-OX40 monoclonal antibody, in patients with mild to moderate plaque psoriasis

Abstract

Background

OX40 (CD134) is expressed in lesional but not healthy skin of patients with psoriasis. KHK4083 is a fully human monoclonal antibody against OX40.

Objective

The primary aim of this first-in-human phase 1 study was to determine the safety and tolerability of ascending single doses of KHK4083 in patients with mild to moderate plaque psoriasis. Secondary aims were to determine the pharmacokinetics and immunogenicity of KHK4083, and an exploratory objective was to assess clinical activity.

Methods

In phase 1a single doses of KHK4083 0.003 and 0.001 mg/kg IV was administered open-label in two cohorts (each n = 6). Phase 1b had a multicenter, randomized, double-blind, placebo-controlled, ascending single-dose design in seven cohorts. Randomization was performed 3:1 to KHK4083 (n = 6) or placebo (n = 2) within each cohort. Ascending doses of KHK4083 were 0.03, 0.1, 0.3, 1.0, 3.0, and 10 mg/kg IV, and 1.0 mg/kg SC.

Results

There were no severe or serious adverse events (AEs), or discontinuations because of AEs. The most frequent treatment-related AEs in the 55 patients who received KHK4083 were mild or moderate chills (9.1%), and infusion/injection site reactions (7.3%). No clinically meaningful or dose-related changes from baseline in laboratory values, vital signs, ECG recordings, or physical examinations were observed. Some KHK4083 recipients (10/54) developed anti-KHK4083 antibodies following treatment. Mean elimination half-life (t_1/2) increased with dose, maximum serum concentration increased in a dose-proportional manner, and area under the serum concentration-time curve increased in a more than dose proportional manner with increasing IV dose. Absolute bioavailability following SC administration was 73%. There was some indication of improvement of PASI and sPGA scores at the highest IV doses (1.0 and 10 mg/kg) and the SC dose (1.0 mg/kg). The largest PASI 50 response and improvement of sPGA score ≥2 occurred with KHK4083 1.0 mg/kg SC.

Conclusion

KHK4083 administration as a single dose up to 10 mg/kg IV or 1.0 mg/kg SC was generally safe and well tolerated in patients with mild to moderate plaque psoriasis with no dose-limiting AEs.

This article is protected by copyright. All rights reserved.

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Recurrent Meningitis

Abstract

Purpose of Review

Recurrent meningitis is a rare clinical scenario that can be self-limiting or life threatening depending on the underlying etiology. This review describes the causes, risk factors, treatment, and prognosis for recurrent meningitis. As a general overview of a broad topic, the aim of this review is to provide clinicians with a comprehensive differential diagnosis to aide in the evaluation and management of a patient with recurrent meningitis.

Recent Findings

New developments related to understanding the pathophysiology of recurrent meningitis are as scarce as studies evaluating the treatment and prevention of this rare disorder. A trial evaluating oral valacyclovir suppression after HSV-2 meningitis did not demonstrate a benefit in preventing recurrences. The data on prophylactic antibiotics after basilar skull fractures do not support their use. Intrathecal trastuzumab has shown promise in treating leptomeningeal carcinomatosis from HER-2 positive breast cancer. Monoclonal antibodies used to treat cancer and autoimmune diseases are new potential causes of drug-induced aseptic meningitis.

Summary

Despite their potential for causing recurrent meningitis, the clinical entities reviewed herein are not frequently discussed together given that they are a heterogeneous collection of unrelated, rare diseases. Epidemiologic data on recurrent meningitis are lacking. The syndrome of recurrent benign lymphocytic meningitis described by Mollaret in 1944 was later found to be closely related to HSV-2 reactivation, but HSV-2 is by no means the only etiology of recurrent aseptic meningitis. While the mainstay of treatment for recurrent meningitis is supportive care, it is paramount to ensure that reversible and treatable causes have been addressed for further prevention.

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Back Pain with Leg Pain

Abstract

Purpose of Review

The clinical diagnostic dilemma of low back pain that is associated with lower limb pain is very common. In relation to back pain that radiates to the leg, the International Association for the Study of Pain (IASP) states: "Pain in the lower limb should be described specifically as either referred pain or radicular pain. In cases of doubt no implication should be made and the pain should be described as pain in the lower limb."

Recent Findings

Bogduks' editorial in the journal PAIN (2009) helps us to differentiate and define the terms somatic referred pain, radicular pain, and radiculopathy. In addition, there are other pathologies distal to the nerve root that could be relevant to patients with back pain and leg pain such as plexus and peripheral nerve involvement. Hence, the diagnosis of back pain with leg pain can still be challenging.

Summary

In this article, we present a patient with back and leg pain. The patient appears to have a radicular pain syndrome, but has no neurological impairment and shows signs of myofascial involvement. Is there a single diagnosis or indeed two overlapping syndromes? The scope of our article encompasses the common diagnostic possibilities for this type of patient. A discussion of treatment is beyond the scope of this article and depends on the final diagnosis/diagnoses made.

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Primary Headaches and School Performance—Is There a Connection?

Abstract

Purpose of Review

Headache is a common complaint among children and adolescents. School functioning is one of the most important life domains impacted by chronic pain in children. This review discusses the epidemiological and pathophysiological connections between headaches and school functioning including a suggested clinical approach.

Recent Findings

The connection between recurrent and chronic headache and learning disabilities might be psychosocial (fear of failure) or anatomical (malfunctioning of the frontal and prefrontal areas). Only few population-based and clinical studies were done and good studies are still needed in order to understand the complex relationship better. However, relating to our patients' learning and school performance, history is crucial when a child with primary headaches is evaluated.

Summary

Learning disabilities seem to have a high prevalence among children with primary headache syndromes especially migraine. The connection between the two is complex and might be either part of a common brain pathophysiology and/or a consequence of poor quality of life.

http://ift.tt/2rt7Wjp

Effects of Long-Term Exposure to Traffic-Related Air Pollution on Lung Function in Children

Abstract

Lung function in early life has been shown to be an important predictor for peak lung function in adults and later decline. Reduced lung function per se is associated with increased morbidity and mortality. With this review, we aim to summarize the current epidemiological evidence on the effect of traffic-related air pollution on lung function in children and adolescents. We focus in particular on time windows of exposure, small airway involvement, and vulnerable sub-groups in the population. Findings from studies published to date support the notion that exposure over the entire childhood age range seems to be of importance for lung function development. We could not find any conclusive data to support evidence of sup-group effects considering gender, sensitization status, and asthma status, although a possibly stronger effect may be present for children with asthma. The long-term effects into adulthood of exposure to air pollution during childhood remains unknown, but current studies suggest that these deficits may be propagated into later life. In addition, further research on the effect of exposure on small airway function is warranted.

http://ift.tt/2s10l8P

Oral lichenoid dysplasia and exophytic oral verrucous hyperplasia: Mythical entities of oral pathology

The World Health Organisation (WHO) has replaced the terms oral precancerous lesions and conditions with "Oral potentially malignant disorders (OPMD)." The latter term aptly describes its wide anatomical distribution and emphasizes the fact that not all such disorders turn into malignancy [1]. OPMD presents in various forms ranging from a flat white patch to exophytic verrucous growth. Although most OPMDs have precise definitions and strict diagnostic criteria's, the existences of a few lesions including oral lichenoid dysplasia (OLD) and exophytic oral verrucous hyperplasia (OVH) are still debated.

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In this issue

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Colorectal cancer molecular profiling: from IHC to NGS in search of optimal algorithm

Abstract

Advances in defining the mutational landscape of colorectal cancer (CRC) over the past decades have revolutionized the molecular understanding and clinical testing algorithms for this disease. Mutation testing is standard of care for the work-up of CRCs. This review focuses on the current indications and strategies for molecular testing in CRC and discusses the potential changes in CRC testing approach associated with the emerging clinical application of genomic-based technologies.

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Cierre endoscópico de las perforaciones septales

Publication date: Available online 27 May 2017
Source:Acta Otorrinolaringológica Española
Author(s): Isam Alobid
IntroducciónEl cierre quirúrgico de las perforaciones septales sintomáticas a menudo conduce a resultados no satisfactorios. El conocimiento de la irrigación vascular es de suma importancia para el éxito.ObjetivoEl manejo de las perforaciones septales constituye un reto para el cirujano. Hay descritas una gran variedad de técnicas quirúrgicas, con distintas vías de abordaje. No existen pruebas científicas que avalen un abordaje en concreto. El objetivo de esta revisión es presentar una guía práctica sobre la técnica de elección para cada caso de perforación septal.DiscusiónLa inspección de la mucosa nasal, el tamaño de la perforación, la localización y, sobre todo, el soporte osteocartilaginoso son los pilares para lograr el éxito de la cirugía. Para los colgajos de deslizamiento o rotación de la mucosa del tabique es fundamental haber estudiado previamente si es posible la elevación del mucopericondrio o mucoperiosteo del septum, de lo contrario, el uso de estos colgajos no estaría indicado. Los colgajos de la pared lateral o del suelo nasal son la alternativa. El colgajo pericraneal podría estar indicado en perforaciones totales o casi totales.ConclusiónEl remanente del septum nasal y el estado del soporte osteocartilaginoso son los factores determinantes en el manejo de las perforaciones septales. Cada caso debe valorarse individualmente y la elección del abordaje se realiza según el tamaño y la localización de la perforación, la calidad de la mucosa, los antecedentes personales, la cirugía previa y la experiencia del cirujano.ObjectiveThe management of septal perforations is a challenge for the surgeon. A wide variety of surgical techniques have been described, with different approaches. There is no scientific evidence to support a particular approach. The objective of this review is to present a practical guide on the technique of choice for each case of septal perforation.DiscussionInspection of the nasal mucosa, the size of the perforation, the location and especially the osteo-cartilaginous support, are the pillars of a successful surgery. For the sliding or rotating flaps of the mucosa of the septum it is essential to know in advance if the elevation of the mucopericondrio or mucoperiosteo of the septum is possible, otherwise the use of these flaps would not be indicated. The flaps of the lateral wall or nasal floor are the alternative. The pericranial flap may be indicated in total or near total perforations.ConclusionThe remnant of the nasal septum and status of osteo-cartilaginous support are the determining factors in the management of septal perforations. Each case should be evaluated individually and the approach chosen according to the size and location of the perforation, mucosal quality, personal history, previous surgery and the experience of the surgeon.



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Effects of Long-Term Exposure to Traffic-Related Air Pollution on Lung Function in Children

Abstract

Lung function in early life has been shown to be an important predictor for peak lung function in adults and later decline. Reduced lung function per se is associated with increased morbidity and mortality. With this review, we aim to summarize the current epidemiological evidence on the effect of traffic-related air pollution on lung function in children and adolescents. We focus in particular on time windows of exposure, small airway involvement, and vulnerable sub-groups in the population. Findings from studies published to date support the notion that exposure over the entire childhood age range seems to be of importance for lung function development. We could not find any conclusive data to support evidence of sup-group effects considering gender, sensitization status, and asthma status, although a possibly stronger effect may be present for children with asthma. The long-term effects into adulthood of exposure to air pollution during childhood remains unknown, but current studies suggest that these deficits may be propagated into later life. In addition, further research on the effect of exposure on small airway function is warranted.

http://ift.tt/2s10l8P

Macrophage-derived interleukin-1beta promotes human breast cancer cell migration and lymphatic adhesion in vitro

Abstract

Lymphovascular invasion (LVI), encompassing blood and lymphatic vessel invasion, is an important event in tumourigenesis. Macrophages within the tumour microenvironment are linked to the presence of LVI and angiogenesis. This study investigates the role of macrophage-derived, caspase-1-dependent interleukin-1beta (IL-1β) in an in vitro model of LVI. IL-1β significantly augmented the adhesion and transmigration of breast cancer cell lines MCF7 and MDA-MB-231 across endothelial cell barriers. MDA-MB-231 and MCF7 showed a higher percentage of adhesion to lymphatic endothelial cells than blood endothelial cells following endothelial cell IL-1β stimulation (P < 0.001 and P < 0.0001, respectively). Supernatants from activated macrophages increased the adhesion of tumour cells to lymphatic and blood endothelium. Secretion of IL-1β was caspase-1 dependent, and treatment with caspase-1 inhibitor reduced IL-1β production by 73% and concomitantly reduced tumour cell adhesion to levels obtained with resting macrophages. Transmigration of MDA-MB-231 cells across blood and lymphatic endothelial monolayers was significantly increased following IL-1β stimulation. Furthermore, supernatants from activated macrophages increased transmigration of MDA-MB-231 cells across endothelial monolayers, which was abolished by caspase-1 inhibition. IL-1β stimulation of tumour cells significantly increased their migratory ability and a significant increase in migration was observed when MDA-MB-231 cells were stimulated with macrophage conditioned media (two of three donors). Results demonstrate that macrophage production of IL-1β plays an important role in the migration of breast cancer cells and their adhesion to, and transmigration across, blood and lymphatic endothelial cells. Results suggest that IL-1β may play a role in the adhesion to lymphatic endothelial cells in particular.

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CD45RA − Foxp3 high regulatory T cells have a negative impact on the clinical outcome of head and neck squamous cell carcinoma

Abstract

Background

Although regulatory T cells (Tregs) are thought to play an important role in immune suppression, their clinical significance in head and neck squamous cell carcinoma (HNSCC) is unclear. A recent study reported Tregs could be divided into functional subsets based on the expression of CD45RA and Foxp3.

Method

The frequency of circulating Treg subsets was analyzed in patients with HNSCC and compared with the frequency in patients with benign tumors. The association of Treg subsets with the frequency of lymphocyte subsets, status of progression, clinical course, and prognosis were also examined.

Results

The frequency of CD4⁺Foxp3⁺ Tregs was comparable between HNSCC patients and age-matched benign tumor patients; however, CD45RA⁻Foxp3^high Tregs were significantly increased in HNSCC patients, in particular those with advanced stage tumors. The high frequency of CD45RA⁻Foxp3^high Tregs correlated with a poor prognosis and the low frequency of CD45RA⁻Foxp3^high Tregs before treatment showed a better clinical outcome, even in patients with advanced stage tumors. CD45RA⁻Foxp3^high Treg numbers were decreased after intensive treatments; however, Treg numbers recovered in the early stages of recurrent cases, even before the clinical manifestation.

Conclusion

CD45RA⁻Foxp3^high Tregs are associated with the clinical course of HNSCC and might be a new target for treatment and an early marker of tumor recurrence in HNSCC patients.

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Complement in renal transplantation: The road to translation

Publication date: Available online 27 May 2017
Source:Molecular Immunology
Author(s): Neeltina M. Jager, Felix Poppelaars, Mohamed R. Daha, Marc A. Seelen
Renal transplantation is the treatment of choice for patients with end-stage renal disease. The vital role of the complement system in renal transplantation is widely recognized. This review discusses the role of complement in the different phases of renal transplantation: in the donor, during preservation, in reperfusion and at the time of rejection. Here we examine the current literature to determine the importance of both local and systemic complement production and how complement activation contributes to the pathogenesis of renal transplant injury. In addition, we dissect the complement pathways involved in the different phases of renal transplantation. We also review the therapeutic strategies that have been tested to inhibit complement during the kidney transplantation. Several clinical trials are currently underway to evaluate the therapeutic potential of complement inhibition for the treatment of brain death-induced renal injury, renal ischemia-reperfusion injury and acute rejection. We conclude that it is expected that in the near future, complement-targeted therapeutics will be used clinically in renal transplantation. This will hopefully result in improved renal graft function and increased graft survival.



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Sequential episodes of ethylene glycol poisoning in the same person

Ethylene glycol is a common alcohol found in many household products such as household hard surface cleaner, paints, varnish, auto glass cleaner and antifreeze. While extremely toxic and often fatal on ingestion, few cases with early presentation by the patient have resulted in death; thus, rapid diagnosis is paramount to effectively treating ethylene glycol poisoning. In this study, we compare two sequential cases of ethylene glycol poisoning in a single individual, which resulted in strikingly different outcomes.

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Primary mucosa-associated lymphoid tissue (MALT) lymphoma of the gallbladder and review of the literature

Mucosa-associated lymphoid tissue (MALT) lymphoma is rarely observed in the gallbladder, and its diagnosis before surgery is difficult. This report describes a case of primary MALT lymphoma of the gallbladder in an 80-year-old man. Imaging studies revealed a protruding lesion on the inside of the gallbladder, which led us to diagnose gallbladder carcinoma prior to the patient undergoing extended cholecystectomy. Microscopic examination of the resected specimen of the gallbladder demonstrated lymphoid follicles with atypical lymphocytes and the formation of lymphoepithelial lesions. These findings led to a final pathological diagnosis of primary MALT lymphoma of the gallbladder. The patient has been free of recurrence for 39 months after the surgery. Although precise diagnosis before the surgery was difficult in this case, preoperative examinations revealed a submucosal tumour-like lesion. MALT lymphomas should be considered when imaging findings are atypical for gallbladder carcinoma.

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Exstrophy variant in a female child

Description

Bladder exstrophy–epispadias complex is a spectrum of rare congenital malformations involving the urinary, genital and musculoskeletal systems. The condition can be subdivided into classic/typical forms, comprising epispadias, classical bladder and cloacal exstrophy, and variant/atypical forms, including duplicated, covered and pseudoexstrophy. Diagnosis can be made clinically. Incidence varies. However, the occurrence is higher in males. Genetic and environmental components likely contribute to the aetiopathogenesis, which remains unknown.1 2 There is a hypothesis that cloacal exstrophy variant could result from an ischiopagus conjoined twinning with blighting of one twin.3

We present a 9-year-old girl with urinary incontinence. She was initially referred at 2-1/2 years for ambiguous genitalia but did not continue follow-up. The mother denied receiving prenatal care or completing postnatal studies. On examination, she has a bifid clitoris, symphysis pubis widely separated and low-placed umbilicus with midline muscle defect where the bladder seemed to herniate...

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A rare cause of acute dysphagia: acute calcific tendonitis of the longus colli muscle

We are presenting a case of a 78-year-old female with multiple comorbidities and history of neck surgery, who presented with acute dysphagia, odynophagia and neck pain that has been progressively getting worse over the course of 2 days, with no recent injury or infection. The patient was afebrile. There were no visible signs of infection on routine oropharyngeal examination. Initial workup was unremarkable except for elevated erythrocyte sedimentation rate, C-reactive protein and creatinine. CT of the cervical spine ruled out any fracture or cervical spine injury but showed an area of calcification, prevertebral oedema and fluid collection inferior to the anterior arch of C1. MRI of the cervical spine also showed prevertebral oedema and fluid collection in the retropharyngeal space from the skull base to the C3 level without abnormal surrounding enhancement that supported the diagnosis of acute calcific tendonitis of the longus colli muscle rather than an infectious process. There was significant improvement of symptoms 48 hours after initiating treatment with systemic steroids. The patient remains asymptomatic 6 months after treatment.

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Mycoplasma pneumoniae-induced rash and mucositis (MIRM): an unusual mild skin rash associated with severe mucosal involvement

Description

A 10-year-old boy was referred to the paediatric department because of ulcerative and haemorrhagic mucosal lesions involving lips and oral cavity (figure 1). These caused significant pain and discomfort to the patient, needing intravenous hydration and nutritional support for some days. The child showed minimal skin involvement, consisting of a mild serpiginous eruption (figure 2), and some lesions were located in the genital and anal areas, too. No pre-existing diseases were reported and, importantly, no drugs were administered during the previous days; interestingly, he reported a self-limiting episode of cough and fever in the previous week. HIV, herpes viruses, cytomegalovirus, Epstein-Barr virus and parvovirus B19 infections were ruled out and no immunological abnormalities emerged. Interestingly, the child presented a serology indicating a recent infection with Mycoplasma pneumoniae, as an elevated specific IgM titre (>27 UA/mL; nv<10 UA/mL) was recovered, whereas the corresponding IgG titre was negative....

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Novel variant of common variable immunodeficiency

A 57-year-old woman with frequent respiratory infections was initially diagnosed with IgG subclass deficiency based on low levels of IgG subclasses 2 and 3. Three years later, she progressed to having IgA deficiency as well. With a normal total IgG level, she does not meet criteria for common variable immunodeficiency (CVID). This may represent a variant of CVID. This also highlights the importance of immunoglobulin subclass estimation in patients where immunodeficiency is suspected clinically. She is being treated with rotational antibiotics the first 10 days of every month, monthly intravenous immunoglobulin (IVIG) infusion and osteopathic manipulation one to two times per month. On this regimen, although she has had several viral respiratory infections, she has avoided further hospitalisation for more than 1 year.

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Cranial neuropathies in uncontrolled diabetes: May not always be due to diabetic microangiopathy

Description

A 22-year-old man, detected to have type 1 diabetes at the age of 9 years, presented with left-sided frontotemporal headache for 1 week followed by left-sided ptosis and binocular diplopia for 4 days. The headache was deep seated and his ocular complaints were of insidious onset and progressive in nature. On admission, he was afebrile with normal vitals except for elevated blood pressure (160/110 mm Hg). He had left-sided complete ophthalmoplegia (palsies of III, IV and VI cranial nerves) along with loss of sensations along the distribution of the ophthalmic division of the left trigeminal nerve (figures 1 and  2). The pupils were equal and reacting to light and the plantar responses were down going. Anterior and posterior rhinoscopy did not reveal any bloody discharge or black eschars. Baseline biochemistry on admission revealed uncontrolled blood sugars (fasting plasma glucose: 198 mg/dL; postprandial plasma glucose: 324 mg/dL; haemoglobin A1c: 9.5%) and deranged renal...

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Papillary renal cell carcinoma with synchronous ovarian metastasis: a rare entity

Description

A 45-year-old woman presented with left-lower abdominal lump for the last 3 months. On examination, she had a palpable lump in the left iliac region, 10 cm in size, firm, non-tender and mobile. Incidentally, another lump was palpable in her left flank which was ballotable. Ultrasonography revealed the presence of a large adnexal mass and showed a concomitant left renal mass. Contrast-enhanced computed tomography abdomen revealed the presence of heterogeneously enhancing space occupying lesion in the mid and lower pole of the left kidney (10.6x8.8x9.0 cm) and a large heterogeneously enhancing lesion was seen in the left adnexal region (11.7x8.7x12.2 cm) (figure 1). Para-aortic lymph nodes were enlarged. Cancer antigen (CA) 125 levels were 170 U/mL.

Figure 1

Contrast-enhanced computed tomography abdomen showing concomitant renal and ovarian mass (renal mass marked by yellow arrow, ovarian tumour marked by red arrow).

Patient underwent open left radical nephrectomy and excision of the...

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Vibrio vulnificus septic shock due to a contaminated tattoo

We present a case of Vibrio vulnificus septic shock and cellulitis in a patient with chronic liver disease that occurred after obtaining a leg tattoo with subsequent seawater exposure in the Gulf of Mexico. Initial suspicion for V. vulnificus was high and he was started on empiric doxycycline and ceftriaxone at admission. Blood and wound cultures grew oxidase positive and comma-shaped Gram-negative rods ultimately confirmed to be V. vulnificus. Despite aggressive initial treatment, the patient developed septic shock and died. This case highlights the association of chronic liver disease and high mortality associated with infections of V. vulnificus. Health providers should remain vigilant for V. vulnificus infections in patients with chronic liver disease and raw oyster ingestion or seawater exposure.

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Abdominoscrotal hydrocele in an infant boy

Abdominoscrotal hydrocele (ASH) is the rarest type of hydrocele. This condition is characterised by a large abdominal and scrotal component connected by an isthmus within the inguinal canal. The incidence among the paediatric population is reported to be less than 3%, although it might be underdiagnosed. Several theories have been proposed in the literature but the aetiology of ASH remains unknown. Diagnosis can be made clinically and confirmed by ultrasound. Spontaneous resolution is rare and long-standing ASH may lead to complications, thus early surgical intervention is recommended. Different techniques have been described, but dissection remains challenging due to the tunica vaginalis adherence to the testis and the distal cord. We present a male infant with ASH who underwent inguinal repair. The procedure was facilitated by needle decompression of the mass. Identification and preservation of the vessels and vas deferens was done successfully without compromising the testis.

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Persistent ST-segment elevation due to cardiac metastasis

Description

A man aged 68 years with a known history of squamous cell carcinoma of the lung presented to the emergency room complaining of an acute episode of dyspnoea. His symptoms had resolved on presentation to the hospital. An EKG was obtained, which showed marked ST-segment elevation (STE) in the anteroseptal leads (figure 1A). No prior EKG was available for comparison. The patient denied any chest pain or pressure, and had no evidence of myocardial necrosis by cardiac biomarkers. Nevertheless, he was taken emergently to the cardiac catheterisation laboratory for a presumed diagnosis of STE myocardial infarction (STEMI). He was found to have severe two-vessel coronary artery disease with possible plaque rupture in the mid-left anterior descending artery (LAD) (figure 2). Overlapping bare metal stents were deployed to the LAD. Concerningly, the patient's right ventricle was noted to be in a fixed motion suggestive of...

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Grey-Turners sign following iatrogenic duodenal perforation

Description

A 45-year-old man presented with a 6-hour history of acute epigastric pain radiating to the back, following endoscopic retrograde cholangiopancreatography (ERCP), sphincterotomy and biliary stenting for obstructive jaundice secondary to choledocholithiasis.

The patient was markedly tender in the epigastrium and right flank, with the pain becoming progressively worse over the following 48 hours. A CT scan of the abdomen and pelvis was performed, revealing a normally enhancing pancreas with pockets of free air and fluid adjacent to the second part of the duodenum and in the retroperitoneum, extending to the right flank, an associated perinephric collection and extensive peritoneal fat stranding. Inflammatory markers were raised alongside a moderately elevated amylase, with a clotting screen within normal limits and stable serial haemoglobin levels. These findings were in keeping with a posterior duodenal perforation (figure 1A,B).

Figure 1

Axial (A) and coronal (B) CT images demonstrating the retroperitoneal collection containing...

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Clozapine re-exposure after dilated cardiomyopathy

A 63-year-old woman with diabetes type II and a history of breast cancer was treated with clozapine for her refractory schizophrenia. She developed a dilated cardiomyopathy with an ejection fraction of 25%, a life-threatening event. The cause of heart failure could be multifactorial, with clozapine, family history, chemotherapy, diabetes type II and/or lithium as possible contributing risk factors. Clozapine was discontinued and the patient was referred to a hospice. Two weeks later, her heart failure slowly improved. Subsequently, she became extremely psychotic with a severe decline in quality of life. Therefore, it was decided to restart clozapine under cardiac monitoring. The patient's psychotic symptoms improved and her heart failure status remained stable for more than a year. Thereafter, a small deterioration was seen in cardiac function. In this case, re-exposure to clozapine was successful for at least 2 years.

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Pure posterior communicating artery occlusion treated with mechanical thrombectomy

There has been no report of mechanical thrombectomy for a pure posterior communicating artery (PComA) occlusion. Here, we report the case of an 87-year-old woman with a disturbance of consciousness and left hemiparesis diagnosed with a right PComA occlusion. The patient was successfully treated using mechanical thrombectomy in combination with a stent retriever and the Penumbra system. A CT perfusion image showed cerebral blood flow reduction in the ipsilateral occipital lobe and thalamus. A CT angiography supported the diagnosis of an occlusion of fetal type PComA. The PComA could not be detected by internal carotidangiogram, but after deployment of stent retriever, the PComA was recanalised and distal embolus at the right posterior cerebral artery was visualised. The thrombus was then removed using the Penumbra system. Although the treatment for a PComA occlusion requires further investigation, the present case supports a thrombectomy as an effective rescue strategy for PComA occlusions.

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Successful hybrid coronary artery revascularisation in a patient with severe cerebrovascular disease: a new treatment option to minimise the risk of stroke

Here we present a case involving a patient with severe distal left main coronary artery stenosis with extensive coexisting extracranial cerebrovascular disease where hybrid coronary artery revascularisation was successfully performed. This illustrates the potential for hybrid revascularisation in those patients with an inherit risk of stroke.

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Awake caudal anaesthesia in neonates/young infants for improved patient safety

Caudal epidural block in a conscious infant is a recognised technique that allows the avoidance of general anaesthesia and risks associated with it. It is also technically easier to perform reliably compared with an awake subarachnoid block in skilled hands.¹ While local anaesthetic systemic toxicity is a rare complication of caudal anaesthesia, this case illustrates the potential for caudal anaesthesia done awake in enhancing patient safety through early recognition of local anaesthetic systemic toxicity.

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Eosinophilic granulomatosis with polyangiitis and mononeuritis multiplex responded to induction cyclophosphamide

We report a case of 28-year-old Malay woman who initially presented with multiple joints pain with underlying poorly controlled asthma since her childhood. She was treated as seronegative arthritis. However, the involvement of joints, asthma and high-eosinophil counts raised suspicion of Churg-Strauss syndrome. This disease is undoubtedly rare in Malaysians or even in Asian populations. After appropriate therapy was delivered for the correct diagnosis her clinical condition improved. She is currently receiving maintenance treatment.

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Maternal sensitivity and social support protect against childhood atopic dermatitis

Many studies have identified associations between qualities of maternal–child relationships and childhood asthma, but few have examined associations with childhood atopic dermatitis (AD), a common precursor to...

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Treatment and retreatment with omalizumab in chronic spontaneous urticaria: Real life experience with twenty-five patients

Publication date: Available online 26 May 2017
Source:Allergology International
Author(s): Murat Türk, İnsu Yılmaz, Sakine Nazik Bahçecioğlu
BackgroundPrevious data have shown the high efficacy of omalizumab in chronic spontaneous urticaria (CSU). However, factors that may be effective on the response to therapy, relapse rates after drug discontinuation, and efficacy of retreatment remain unclear. This study aimed to determine the efficacy of omalizumab in CSU refractory to conventional therapy, to identify possible factors affecting treatment response and relapse, and also to evaluate the efficacy of retreatment on relapsed disease.MethodsThe data of CSU patients treated with 300 mg/month omalizumab for at least 3 months were retrospectively analyzed. In order to evaluate the efficacy of treatment and retreatment, baseline and follow-up concomitant medication score (CMS) and urticaria activity score (UAS) were calculated. Possible factors affecting treatment response and relapse were identified.ResultsTwenty-five patients were included. The median duration of omalizumab therapy was 6 (6–12) months. Of the patients with baseline UAS 6 (5.5–6) and CMS 13 (10–15), 8 (32%) had complete response (UAS = 0) and 2 (8%) were non-responders after 3 months of therapy. None of the complete responders were positive for IgG-anti-TPO. After discontinuation of omalizumab therapy, 11 (61%) patients experienced relapse and 10 of them received retreatment with omalizumab. Half of the patients had complete response, and half had partial response (UAS = 1–4) after retreatment. No treatment related adverse events were documented.ConclusionsOmalizumab has high efficacy in both the treatment and retreatment of CSU; however, relapse rates after discontinuation are high. Autoimmune markers may be helpful in predicting treatment response and relapse.



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TH1 phenotype of T follicular helper cells indicates an IFNγ-associated immune dysregulation in CD21low CVID patients

Publication date: Available online 26 May 2017
Source:Journal of Allergy and Clinical Immunology
Author(s): Susanne Unger, Maximilian Seidl, Pauline van Schouwenburg, Mirzokhid Rakhmanov, Alla Bulashevska, Natalie Frede, Bodo Grimbacher, Jens Pfeiffer, Klaudia Schrenk, Luis Munoz, Leif Hanitsch, Ina Stumpf, Fabian Kaiser, Oliver Hausmann, Florian Kollert, Sigune Goldacker, Mirjam van der Burg, Baerbel Keller, Klaus Warnatz
BackgroundA subgroup of patients with Common Variable Immunodeficiency (CVID) suffers from immune dysregulation, manifesting as autoimmunity, lymphoproliferation and organ inflammation, and thereby increasing morbidity and mortality. Therefore, treatment of these complications demands a deeper comprehension of their etiology and pathophysiology.ObjectivesBased on the identification of an Interferon (IFN) signature in CVID patients with secondary complications and a skewed T follicular helper cell (TFH) differentiation in defined monogenic immunodeficiencies, we sought to determine the profile of CD4 memory T cells in blood and secondary lymphatic tissues of these patients.MethodsWe quantified TH1/TH2/TH17 CD4 memory T cells in blood and lymph nodes of CVID patients by flow cytometry, analyzed their function and correlated all findings to the burden of immune dysregulation.ResultsCVID patients with immune dysregulation had a skewed memory CD4 T-cell differentiation towards a CXCR3^posCCR6^neg TH1 phenotype both in blood and lymph nodes. Consistent with our phenotypic findings we observed a higher IFNγ production in peripheral CD4 memory T cells and lymph node-derived TFH cells of CVID patients compared to healthy controls. Increased IFNγ production was accompanied by a poor GC output, an accumulation of T-bet^pos B cells in lymph nodes and T-bet^pos CD21^low B cells in peripheral blood of affected patients.ConclusionThe identification of an excessive IFNγ production by blood and lymph node-derived T cells of CVID patients with immune dysregulation will offer new therapeutic avenues for this subgroup. CD21^low B cells may serve as a marker of this IFNγ-associated dysregulation.



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Review Article: Retropharyngeal Abscess—Mimickers and Masqueraders

Abstract

To discuss a case of suspected retropharyngeal abscess having important clinical and academic significance. This paper discusses an unusual presentation and evolution of a well known condition such as retropharyngeal abscess. Though the diagnosis in this case was initially a retropharyngeal abscess, several unusual findings were evident, which interfered with the optimal management of the patient. A literature review revealed rare causes and lesions mimicking a retropharyngeal abscess, such as retropharyngeal calcific tendinitis and Kawasaki disease, which are neither familiar to otolaryngologists nor other specialists such as orthopedicians. It is possible that this patient was both over treated and undertreated at the same time. Though the diagnosis in this case could not be established with certainty, several important pieces of information came up, especially unusual causes of retropharyngeal abscess and management of the same. Retropharyngeal abscess is a well-known condition with established modes of management. However, certain variations may occur and may pose challenges in diagnosis and management. These variations are little known and need to be highlighted so that optimal management is ensured.

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Invasive Fungal Infection in Acute Myeloid Leukemia Associated with Myeloid Sarcoma of the Sinonasal Cavity: A Rare Case

Abstract

Myeloid sarcoma is a rare malignant extramedullary neoplasm of myeloid precursor cells. The majority of these cases occur in patients with known leukemia or those who eventually develop the disease. It can occur in various sites but sinonasal cavity involvement along with invasive fungal infection is exceedingly rare.

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Duration and exclusiveness of breastfeeding and school-age lung function and asthma

Publication date: Available online 26 May 2017
Source:Annals of Allergy, Asthma & Immunology
Author(s): Evelien R. van Meel, Mandy de Jong, Niels J. Elbert, Herman T. den Dekker, Irwin K. Reiss, Johan C. de Jongste, Vincent W.V. Jaddoe, Liesbeth Duijts
BackgroundBreastfeeding reduces the risk of asthma in early childhood, but it is not clear whether its effect on respiratory morbidity is still present in later childhood.ObjectivesTo examine the associations of any breastfeeding, breastfeeding duration, and breastfeeding exclusiveness with lung function and asthma in school-aged children and whether associations were influenced by respiratory tract infections and maternal or child's atopic status.MethodsThis study of 4,464 children was embedded in a population-based prospective cohort study. Information on breastfeeding was obtained by multiple questionnaires from birth until 1 year of age. At 10 years of age, lung function was measured by spirometry, and information on asthma was obtained by questionnaire. Adjusted linear and logistic regression models were used to examine the associations.ResultsShorter duration of breastfeeding was associated with a lower forced expiratory volume in 1 second (FEV1) only (z score change, −0.01; 95% confidence interval [CI], −0.02 to −0.00) per month shorter breastfeeding, but not asthma. When categorized, breastfeeding for 2 to 4 months was associated with a lower forced vital capacity (FVC) (z score change, −0.11; 95% CI, −0.20 to −0.03) compared with breastfeeding for 6 months or longer. Nonexclusive breastfeeding for 4 months was associated with a lower FVC (z score change, −0.08; 95% CI, −0.16 to −0.01) compared with exclusive breastfeeding for 4 months. Results did not materially change after additional adjustment for lower respiratory tract infections and were not modified by maternal history of asthma or atopy, child's eczema, or inhalant allergic sensitization.ConclusionShorter duration and nonexclusivity of breastfeeding were associated with a lower FEV1 and FVC but not asthma at school-age.



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Association of of IgE Can f 2 and dyspnea in pet allergic patients

Publication date: Available online 26 May 2017
Source:Annals of Allergy, Asthma & Immunology
Author(s): Natalia Ukleja-Sokołowska, Ewa Gawrońska-Ukleja, Magdalena Żbikowska-Gotz, Ewa Socha, Kinga Lis, Łukasz Sokołowski, Zbigniew Bartuzi




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Plantar warts on Tollund Man's feet (Denmark, fourth century BC). Limits of retrospective dermatological diagnosis

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Ichthyosis with confetti presenting as collodion baby: a novel mutation in KRT10

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