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Total 30 results found since Jan 2013.

Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene
AbstractFabry disease is a rare X-linked lysosomal storage disorder due to pathogenic variants of the galactosidase alpha (GLA) gene, leading to a deficiency of alpha-galactosidase A. The inadequate enzymatic activity leads to progressive glycosphingolipids accumulation within tissues and subsequent multi-systemic dysfunction, with predominant involvement of heart, kidney, and nervous system. Two subtypes are recognized: the classic type and the late-onset type. We here describe the clinical characteristics of a patient with late-onset Fabry disease carrying a not previously identified GLA gene variant. This 50-year-old ma...
Source: Metabolic Brain Disease - December 1, 2022 Category: Neurology Source Type: research

Modeling of mitochondrial bioenergetics and autophagy impairment in MELAS-mutant iPSC-derived retinal pigment epithelial cells
CONCLUSIONS: Our studies demonstrate that the MELAS iPSC-derived disease models are powerful tools for dissecting the molecular mechanisms by which mitochondrial DNA alterations influence RPE function in aging and macular degeneration, and for testing novel therapeutics in patients harboring the MELAS genotype.PMID:35715869 | DOI:10.1186/s13287-022-02937-6
Source: Cell Research - June 17, 2022 Category: Cytology Authors: Sujoy Bhattacharya Jinggang Yin Weihong Huo Edward Chaum Source Type: research

Oculoplastic Surgeries in Patients Older than 90 Years of Age
CONCLUSION: In our experience, oculoplastic surgeries among the elderly population are safe without significant complications and can usually be performed under local anesthesia. Advanced age should not prevent surgery, especially if the procedure may improve vision and quality of life.PMID:35377245 | DOI:10.1177/11206721221086153
Source: European Journal of Ophthalmology - April 4, 2022 Category: Opthalmology Authors: Muhammad Abumanhal Ilan Feldman Igal Leibovitch Ran Ben Cnaan Source Type: research

The diagnostic value of skin biopsies in Sneddon syndrome
ConclusionsStandardized skin biopsies can support the clinical diagnosis of SS. An occlusive microangiopathy as the only positive criterion for the diagnosis of SS had insufficient specificity for a definite diagnosis.
Source: PLoS One - June 28, 2021 Category: Biomedical Science Authors: N. L. P. Starmans Source Type: research

Sneddon syndrome: a comprehensive clinical review of 53 patients
ConclusionsSS predominantly affects young women with a relatively large number of cardiovascular risk factors. Clinical features of SS are comparable across different studies. We found no differences in the main clinical features between APL-positive and APL-negative patients.
Source: Journal of Neurology - January 29, 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

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).
We report a case of a 42 year old man with recurrent transient ischemic attacks (TIA). A detailed neurologic examination revealed poor score in MMSE (20/30) defect mainly seen in recall, repetitions. Executive dysfunction, memory and language impairment were also found. Motor system examination revealed grade 3 power in right upper and lower limb with more severe weakness of distal muscles in form of grip weakness and slippage of chappals. Neuroimaging and genetic analysis for Notch-3 confirmed the diagnosis. Imaging studies suggested greater involvement in the temporal and frontal lobes along with deep areas of the brain....
Source: Journal of the Association of Physicians of India - October 3, 2019 Category: General Medicine Tags: J Assoc Physicians India Source Type: research

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

Misdiagnosis of CADASIL: A single Medical Center experience (P1.251)
Conclusions:CADASIL is the most prevalent monogenic cerebral small-vessel arteriopathy. Despite wide availability of genetic testing, misdiagnosis and delay diagnosis are common. We encourage for enhanced awareness of CADASIL among patients with migraines with aura, recurrent TIAs or subcortical ischemic strokes, and mood disorder, in order to provide appropriate multidisciplinary treatment, psychological support and genetic counselingStudy Supported by: n/aDisclosure: Dr. Ortiz-Garcia has nothing to disclose. Dr. Orjuela has nothing to disclose. Dr. Sweis has nothing to disclose. Dr. Biller has received personal compensat...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Ortiz-Garcia, J., Orjuela, K., Sweis, R., Biller, J. Tags: Genetic Stroke Syndromes, Biomarkers, and Translational/Basic Research Source Type: research

Recognizing CADASIL: a Secondary Cause of Migraine with Aura
AbstractPurpose of ReviewCADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an important disease to consider in the differential diagnosis of migraine with aura. This review examines current literature regarding migraine in CADASIL, as well as diagnostic and treatment modalities.Recent FindingsRecent studies have shown that smoking is a modifiable risk factor for progression of CADASIL (Chabriat et al. in Stroke 47:4 –11,2015). Specific imaging changes and findings on clinical exam can predict disease progression. However, migraine symptoms often precede MRI changes (G...
Source: Current Pain and Headache Reports - March 8, 2017 Category: Neurology Source Type: research

Small‐nerve‐fiber pathology in critical illness documented by serial skin biopsies
Conclusion: Serial IENFD measurements confirmed the development of small‐fiber sensory involvement in the acute phase of critical illness. Muscle Nerve, 2015
Source: Muscle and Nerve - May 29, 2015 Category: Internal Medicine Authors: Miroslav Skorna, Roman Kopacik, Eva Vlckova, Blanka Adamova, Milena Kostalova, Josef Bednarik Tags: Research Article Source Type: research