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Total 64 results found since Jan 2013.

Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals?
In conclusion, this familiar case demonstrated the wide range of phenotypic variability in DADA2. The search for ADA2 mutations and the assessment of ADA2 activity should be considered also in patients with the association of hypogammaglobulinemia and inflammatory conditions, also with late presentation and in absence of vasculitis. Furthermore, the clinical picture of the deceased carrier suggests a possible contribution of heterozygous pathogenic variants to inflammation.
Source: Frontiers in Immunology - May 3, 2023 Category: Allergy & Immunology Source Type: research

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

Intravascular large B-cell lymphoma presenting as rapidly progressive dementia and stroke: A case report
Rationale: Intravascular large B-cell lymphoma (IVLBCL) is a rare form of large B-cell non-Hodgkin lymphoma. The diagnosis is challenging and frequently made at biopsy. Here we reported a case of IVLBCL limited to the central nervous system (CNS) presenting with progressive dementia and acute stroke, who was diagnosed by brain biopsy. Patient concerns: A 47-year-old woman was transferred to our hospital with a 6-month history of rapidly progressive dementia, and left limb weakness and numbness for 3 days. She was successively misdiagnosed with inflammatory demyelinating disease and stroke. Her condition deterior...
Source: Medicine - December 3, 2021 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

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

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

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

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

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) – Still to be Considered in the Presence of Vascular Risk Factors
We report a 46-year-old male with a 9 and 3-month history of progressive unilateral lower limb weakness and dysarthria, respectively. He had a history of diabetes mellitus but no hypertension, hyperlipidemia, or smoking history. Both parents had a stroke at the age of 65 years. Neurological examination was significant for moderate dysarthria and reduced right upper limb dexterity. Magnetic resonance imaging (MRI) of the brain revealed extensive white matter disease, lacunar infarcts, and a few microhemorrhages. Electron microscopy of his skin biopsy showed electron-dense deposits of extracellular osmiophilic granular mater...
Source: Case Reports in Neurology - December 14, 2020 Category: Neurology 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

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