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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Preoperative continuation of aspirin administration in patients undergoing major abdominal malignancy surgery

Abstract

Purpose

In contrast to that in a nonoperative setting, it has been shown that perioperative administration of aspirin did not decrease the rate of death or myocardial infarction but increased major bleeding risk. Since these conflicting results might be due to concurrent use of anticoagulants and a lower thrombotic risk of patients, this cohort study was carried out for patients at a high thrombotic risk without concurrent use of anticoagulants.

Methods

Medical records for patients who underwent major abdominal malignancy surgery and who were on a preoperative antiplatelet regimen were reviewed. The patients were divided into two groups according to perioperative antiplatelet management: administration of all preoperative antiplatelet agent-suspended (no aspirin) group and only aspirin administration-continued (aspirin) group. The incidence of symptomatic thromboembolic events, frequency of exogenous blood transfusion within 30 days after surgery and the amount of intraoperative bleeding were compared between the two groups.

Results

After propensity score matching, 105 patients of each group were matched. The incidence of perioperative thromboembolic events in the no-aspirin group was significantly higher than that in the aspirin group [7/105 (6.7%) vs 0/105 (0%), 95% CI 1.44–∞, P = 0.016]. In contrast, neither the frequency of exogenous transfusion [21.0% vs 11.4%, 95% CI 0.88–4.38 P = 0.110] nor the amount of intraoperative bleeding [median (interquartile range), ml: 230 (70–500) vs 208 (50–500), P = 0.325] was different between the two groups.

Conclusion

Although the sample size is relatively small, our findings suggest that continuation of aspirin administration is likely to reduce the thrombotic risk but unlikely to increase the bleeding risk of patients who undergo major abdominal surgery for malignancy.

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Amputation for osteomyelitis in a patient with spina bifida

Abstract

We describe a case of osteomyelitis in a patient with spina bifida presenting to the vascular surgeon and highlight the complex challenges encountered. We review the literature and demonstrate how good multidisciplinary care and early consideration for surgical amputation may benefit this unique group of patients.

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