A family with PTEN mutations with malignancy and an unusually high number of offspring with autism spectrum disorder: a case report

Cowden's syndrome (OMIM:158350), a rare genetic disorder (incidence ~ 1:250,000), is caused by mutations of the tumor suppressor gene PTEN. In this report, we describe clinical manifestations of a 56-year-old pat...

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Student Elective Competition 2018/19: A call for entries

We are now launching the 2018/19 competition for students and interns. Write up your experiences as a global health case report and you could be the winner of a position as a Global Health Associate Editor for BMJ Case Reports.

All authors must be students or interns at the time of submission.

Your entry will undergo the same treatment that all our journal submissions do, including the peer review process, so be sure to check out our Instructions for Authors for guidance before you start writing. If you've never written a global health case report before, you may find our Global Health section useful to help you get started.

Winners will be selected for interview to become a Global Health Associate Editor. We welcome submissions from all over the world. Patients may be anyone seen on the ward or at home, in medical school or on elective. Winners will be announced in September 2019.

Global Health Associate Editors will have the chance to contribute to our global health blog, help manage our social media presence and collaborate on special global health projects.

The post Student Elective Competition 2018/19: A call for entries appeared first on BMJ Case Reports blog.

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Microvascular Capillary Plexus Findings of Commotio Retinae on Optical Coherence Tomography Angiography

Optical coherence tomography (OCT) and histopathology features of commotio retinae (CR) have been established, but alterations of the microvascular macular capillary plexus on OCT angiography (OCTA) has not been previously studied. We present a 46-year-old man who sustained a tennis ball injury to the right eye with visual acuity reduction to 20/30 and grey-white deep macular discoloration, suggestive of CR. Spectral-domain OCT (SD-OCT) showed increased reflectivity and thickness of the ellipsoid zone (junction of photoreceptor inner and outer segments). OCTA revealed no apparent microvascular alterations (right versus left eye) in the foveal avascular zone superficial (0.42 vs. 0.43 mm²) and deep (0.45 vs. 0.44 mm²), superficial foveal capillary density (34.1 vs. 32.6%), and superficial parafoveal capillary density (55.2 vs. 52.2%). Deep macular capillary plexus and choriocapillaris were qualitatively comparable between the two eyes. At 2 months' follow-up, SD-OCT had normalized. CR is characterized by disruption of the ellipsoid zone without detectable alteration of the capillary plexuses.
Case Rep Ophthalmol 2018;9:473–478

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Gender Disparities in Trauma Care: How Sex Determines Treatment, Behavior, and Outcome

Publication date: Available online 27 November 2018

Source: Anesthesiology Clinics

Author(s): Evie G. Marcolini, Jennifer S. Albrecht, Kinjal N. Sethuraman, Lena M. Napolitano

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Novel HAX1 Gene Mutation in a Vietnamese Boy with Severe Congenital Neutropenia

Severe congenital neutropenia (SCN) is a rare disease that involves a heterogeneous group of hereditary diseases. Mutations in the HAX1 gene can cause an autosomal recessive form of SCN-characterized low blood neutrophil count from birth, increased susceptibility to recurrent and life-threatening infections, and preleukemia predisposition. A 7-year-old boy was admitted due to life-threatening infections, mental retardation, and severe neutropenia. He had early-onset bacterial infections, and his serial complete blood count showed persistent severe neutropenia. One older sister and one older brother of the patient died at the age of 6 months and 5 months, respectively, because of severe infection. Bone marrow analysis revealed a maturation arrest at the promyelocyte/myelocyte stage with few mature neutrophils. In direct DNA sequencing analysis, we found a novel homozygous frameshift mutation (c.423_424insG, p.Gly143fs) in the HAX1 gene, confirming the diagnosis of SCN. The patient was successfully treated with granulocyte colony-stimulating factor (G-CSF) and antibiotics. A child with early-onset recurrent infections and neutropenia should be considered to be affected with SCN. Genetic analysis is useful to confirm diagnosis. Timely diagnosis and suitable treatment with G-CSF and antibiotics are important to prevent further complication.

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