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A Novel Mutation in COL4A1 Gene in a Chinese Family with Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy
We report a novel collagen type IV alpha 1 (COL4A1) gene mutation in a Chinese family with PADMAL. The index case was followed up for 6  years. Neuroimaging, whole-exome sequencing, skin biopsy, and pedigree analysis were performed. She initially presented with minor head injury at age 38. MRI brain showed chronic lacunar infarcts in the pons, left thalamus, and right centrum semiovale. Extensive workup was unremarkable except for a patent foramen ovale (PFO). Despite anticoagulation, PFO closure, and antiplatelet therapy, the patient had recurrent lacunar infarcts in the pons and deep white matter, as well as subcortical...
Source: Translational Stroke Research - August 20, 2021 Category: Neurology Source Type: research

Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report
Conclusions: The novel variant c.1095G>C transition (NM_003156.3) was located in the SOAR, which expands the phenotypic spectrum of STIM1 variants in human disorders and may define the molecular basis of Stormorken syndrome.
Source: Frontiers in Neurology - August 2, 2021 Category: Neurology Source Type: research

Unusual Symptoms of Coronavirus: What We Know So Far
While most people are familiar with the hallmark symptoms of COVID-19 by now—cough, fever, muscle aches, headaches and difficulty breathing—a new crop of medical conditions are emerging from the more than 4 million confirmed cases of the disease around the world. These include skin rashes, diarrhea, kidney abnormalities and potentially life-threatening blood clots. It’s not unusual for viruses to directly infect and affect different tissues and organs in the body, but it is a bit unusual for a primarily respiratory virus like SARS-CoV-2, which is responsible for COVID-19, to have such a wide-ranging reach...
Source: TIME: Health - May 19, 2020 Category: Consumer Health News Authors: Alice Park Tags: Uncategorized COVID-19 Source Type: news

Neurological Involvement in Primary Systemic Vasculitis
Conclusion Neurological involvement is a common complication of PSV (Table 1), and neurologists play an important role in the identification and diagnosis of PSV patients with otherwise unexplained neurological symptoms as their chief complaint. This article summarizes the neurological manifestations of PSV and hopes to improve neuroscientists' understanding of this broad range of diseases. TABLE 1 Table 1. Common CNS and PNS involvements of primary systemic vasculitis. Author Contributions SZ conceived the article and wrote the manuscript. DY and GT reviewed and edited the manuscript. All authors ...
Source: Frontiers in Neurology - April 25, 2019 Category: Neurology Source Type: research

Clinical, radiological, and histological characteristics of Chinese type 2 diabetic patients with diabetic scleredema: an observational study
ConclusionOur reports suggest that DS is relatively rare in Chinese patients with diabetes. DS occurs both in middle-aged and elderly patients (male predominantly), overweight or obese, having long-term poorly controlled type 2 diabetes, and presenting a high incidence of microvascular complications, hypertension, neuropathy, and ischemic cerebral stroke. High LDL-C level, nicotine abuse, and alcohol abuse may be risk factors. MRI could be preferable to assess the severity of DS non-invasively.
Source: International Journal of Diabetes in Developing Countries - December 18, 2018 Category: Endocrinology Source Type: research

Endocrine Disruptors and Health Effects in Africa: A Call for Action
Conclusion: To address the many challenges posed by EDCs, we argue that Africans should take the lead in prioritization and evaluation of environmental hazards, including EDCs. We recommend the institution of education and training programs for chemical users, adoption of the precautionary principle, establishment of biomonitoring programs, and funding of community-based epidemiology and wildlife research programs led and funded by African institutes and private companies. https://doi.org/10.1289/EHP1774 Received: 16 February 2017 Revised: 22 May 2017 Accepted: 24 May 2017 Published: 22 August 2017 Address correspond...
Source: EHP Research - August 23, 2017 Category: Environmental Health Authors: Daniil Lyalko Tags: Commentary Source Type: research