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Procedure: Skin Biopsy

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Total 64 results found since Jan 2013.

Intravascular large B-cell lymphoma presenting as multiple stroke: A case report
Conclusion: IVLBCL is an aggressive disease with high mortality. Timely diagnosis and treatment can be lifesaving.
Source: Medicine - October 1, 2018 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Nuclear abnormalities in vascular myocytes in cerebral autosomal ‐dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
Cerebral autosomal ‐dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a stroke and dementia syndrome with degeneration and loss of vascular smooth muscle cells (VSMCs). The disease is due to mutations inNOTCH3 playing an important role in VSMC differentiation, proliferation and apoptosis. Searching for a possible cause of VSMC dysfunction in CADASIL, we investigated morphology and proliferative activity the affected myocytes. In material from autopsy brains and skin ‐muscle biopsies of patients with CADASIL diagnosis, assessment of VSMCs in arterial vessels at the level of light and e...
Source: Neuropathology - November 6, 2018 Category: Neurology Authors: Dorota Dziewulska, Ewelina Nycz, Cecylia Rajczewska ‐Oleszkiewicz, Jacek Bojakowski, Dorota Sulejczak Tags: Original Article 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

Summary: International Kidney Cancer Symposium
Conclusions:  Ideal ischemia time is 20-25 minutes or less improves short and long term renal function. >25 minutes carried 5 year risk of new onset stage 4 CKD No differences on GFR for cold vs. warm ischemia times Preoperative GFR and the percent of kidney preserved was a better predictor of post op GFR.  No ischemia preserves renal function better than warm. Longer cold ischemia times were equivalent to shorter warm ischemia times. Quality and quantity of the remaining kidney is associated with ultimate renal function. Robotics in RCC Surgery Gennady Bratslavsky, MD The opening question ...
Source: Kidney Cancer Association - December 15, 2011 Category: Urology & Nephrology 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

Mechanisms of kidney disease in Sneddon's syndrome: Case report and literature review 
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We report a case of Sneddon's syndrome with chronic kidney disease, associated with features of endarteritis obliterans in the skin and the kidney. The clinical presentation of our patient is compared to previously reported cases of Sneddon's syndrome with biopsy-proven kidney disease. We also discuss the differential diagnosis, pathophysiological mechanisms, relationship with antiphospholipid syndrome, and management of patients with Sneddon's syndrome and kidney disease. This clinical observation supports the systemic nature of Sneddon's syndrome and provides insights into the mechanisms by which this rare but probably u...
Source: Clinical Nephrology - October 28, 2019 Category: Urology & Nephrology Authors: Ghislain L, Aydin S, Marot L, Demoulin N, Morelle J Tags: Clin Nephrol Source Type: research

Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review
AbstractCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is primarily characterized by migraine, stroke, mood disturbances, and cognitive decline. Ataxia has seldom been reported as a presenting symptom. Here, we review reports of CADASIL presenting as ataxia and compare these to the first pathologically confirmed case of CADASIL presenting with progressive ataxia. A 50-year-old woman presented with progressive truncal ataxia. Brain magnetic resonance imaging (MRI) revealed white matter hyperintensities in the bilateral anterior temporal lobes, external capsules, and peri...
Source: The Cerebellum - July 29, 2020 Category: Neurology Source Type: research

Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review.
Abstract Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is primarily characterized by migraine, stroke, mood disturbances, and cognitive decline. Ataxia has seldom been reported as a presenting symptom. Here, we review reports of CADASIL presenting as ataxia and compare these to the first pathologically confirmed case of CADASIL presenting with progressive ataxia. A 50-year-old woman presented with progressive truncal ataxia. Brain magnetic resonance imaging (MRI) revealed white matter hyperintensities in the bilateral anterior temporal lobes, external capsules...
Source: Cerebellum - July 29, 2020 Category: Neuroscience Authors: Park DG, Min JH, Sohn SH, Sohn YB, Yoon JH Tags: Cerebellum Source Type: research

18756 Skin biopsy for the diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: A report of two cases
Skin biopsy has become a useful tool for the diagnosis of extracutaneous diseases as a relatively benign procedure with a good performance. The evaluation of dermal and epidermal innervation and vasculature show distinct changes that support the diagnosis of specific neurologic diseases. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited angiopathy caused by mutations in the NOTCH3 gene on chromosome 19. It is characterized by stroke and vascular cognitive impairment in the young and other neurological manifestations.
Source: Journal of the American Academy of Dermatology - November 28, 2020 Category: Dermatology Authors: Maria Pereira, Khanty Loyola, Gonzalo Hevia, Ximena Fajre, Diego Rocha, Pablo Brinck, Marcela Schultz 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

Summary: International Kidney Cancer Symposium
Conclusions:  Ideal ischemia time is 20-25 minutes or less improves short and long term renal function. >25 minutes carried 5 year risk of new onset stage 4 CKD No differences on GFR for cold vs. warm ischemia times Preoperative GFR and the percent of kidney preserved was a better predictor of post op GFR.  No ischemia preserves renal function better than warm. Longer cold ischemia times were equivalent to shorter warm ischemia times. Quality and quantity of the remaining kidney is associated with ultimate renal function. Robotics in RCC Surgery Gennady Bratslavsky, MD The opening question ...
Source: Kidney Cancer Association - December 15, 2011 Category: Urology & Nephrology Source Type: news

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

Clinicopathological features of neuronal intranuclear inclusion disease diagnosed by skin biopsy
ConclusionsThe results indicated that inclusions were more easily detected in sweat gland cells in skin biopsy. The early stage of NIID could only characterized by autonomic nerve function involvement. Combined autonomic nerve dysfunction might be another relatively common manifestation in NIID.
Source: Neurological Sciences - August 13, 2021 Category: Neurology 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