Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation

We describe the clinical features and course of a patient harboring the rare p.V32A (c.155T>C) variant that was previously described in only two patients and whose pathogenicity was unclear.
Source: Neurological Sciences - Category: Neurology Source Type: research

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Abstract In Type II lepromatous reaction, there is exacerbation of humoral immunity, classified as Gell &Coombs Type III hypersensitivity reaction. It is more common in lepromatous borderline (LB) and lepromatous lepromatous (LL) patients. Our objective was to study the clinical and laboratorial expressions of lepromatous Type II reactions, establishing concordances between them, and for this the medical records of leprosy patients observed at the Clementino Fraga Filho University Hospital of the Federal University of Rio de Janeiro (HUCFF/UFRJ) were reviewed. There were a total of 358 leprosy cases over a per...
Source: Skinmed - Category: Dermatology Authors: Tags: Skinmed Source Type: research
Publication date: Available online 19 October 2019Source: Multiple Sclerosis and Related DisordersAuthor(s): Hiroki Hoshino, Yoko Shirai, Hiroe Konishi, Takashi Yamamura, Norikazu ShimizuAbstractFulminant demyelinating disease including acute disseminating encephalitis, multiple sclerosis (MS) variants, and neuromyelitis optica spectrum disorder (NMOSD) are often managed with similar acute treatment such as intravenous methylprednisolone and plasma exchange. On the other hand, long-term management varies. The choice of the drug is based on several factors including the activity and severity of the disease course. Tocilizum...
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
In this study, AT1-AAs were detected in the sera of patients with peripheral arterial disease (PAD) and the positive rate was 44.44% vs. 17.46% in non-PAD volunteers. In addition, analysis showed that AT1-AAs level was positively correlated with PAD. To reveal the causal relationship between AT1-AAs and vascular aging, an AT1-AAs-positive rat model was established by active immunization. The carotid pulse wave velocity was higher, and the aortic endothelium-dependent vasodilatation was attenuated significantly in the immunized rats. Morphological staining showed thickening of the aortic wall. Histological examination showe...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Conclusion: Long-term OS and RFS after the surgical resection of primary chest wall sarcoma were clinically acceptable. PMID: 31624714 [PubMed]
Source: Korean Journal of Thoracic and Cardiovascular Surgery - Category: Cardiovascular & Thoracic Surgery Tags: Korean J Thorac Cardiovasc Surg Source Type: research
Publication date: Available online 19 October 2019Source: Biochimica et Biophysica Acta (BBA) - Reviews on CancerAuthor(s): Subash C. Gupta, Nikee Awasthee, Vipin Rai, Srinivas Chava, Venugopal Gunda, Kishore B. ChallagundlaAbstractThe regulation of the pleiotropic transcription factor, nuclear factor-κB (NF-κB) by miRNAs and proteins is extensively studied. More recently, the NF-κB signaling was also reported to be regulated by several long non-coding RNAs (lncRNAs) that constitute the major portion of the noncoding component of the human genome. The common NF-κB associated lncRNAs include NKILA, H...
Source: Biochimica et Biophysica Acta (BBA) Reviews on Cancer - Category: Cancer & Oncology Source Type: research
Authors: Walsh JL, AlJaroudi WA, Lamaa N, Abou Hassan OK, Jalkh K, Elhajj IH, Sakr G, Isma'eel H Abstract Objectives. In heart failure, invasive angiography is often employed to differentiate ischaemic from non-ischaemic cardiomyopathy. We aim to examine the predictive value of echocardiographic strain features alone and in combination with other features to differentiate ischaemic from non-ischaemic cardiomyopathy, using artificial neural network (ANN) and logistic regression modelling. Design. We retrospectively identified 204 consecutive patients with an ejection fraction
Source: Scandinavian Cardiovascular Journal - Category: Cardiology Tags: Scand Cardiovasc J Source Type: research
Fight Aging! provides a weekly digest of news and commentary for thousands of subscribers interested in the latest longevity science: progress towards the medical control of aging in order to prevent age-related frailty, suffering, and disease, as well as improvements in the present understanding of what works and what doesn't work when it comes to extending healthy life. Expect to see summaries of recent advances in medical research, news from the scientific community, advocacy and fundraising initiatives to help speed work on the repair and reversal of aging, links to online resources, and much more. This content is...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Fight Aging! provides a weekly digest of news and commentary for thousands of subscribers interested in the latest longevity science: progress towards the medical control of aging in order to prevent age-related frailty, suffering, and disease, as well as improvements in the present understanding of what works and what doesn't work when it comes to extending healthy life. Expect to see summaries of recent advances in medical research, news from the scientific community, advocacy and fundraising initiatives to help speed work on the repair and reversal of aging, links to online resources, and much more. This content is...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
We reported a milder form of COG5 defect showing Friedreich's-ataxia-like phenotypes without hypotonia, microcephaly, and short stature that were observed in most patients with COG5 defect. PMID: 28960046 [PubMed - in process]
Source: Journal of Korean Medical Science - Category: Biomedical Science Tags: J Korean Med Sci Source Type: research
We describe a girl with Danon disease who presented with hypertrophic cardiomyopathy and Wolff‐Parkinson‐White (WPW) syndrome at 12 years of age. Subsequently, she showed signs of mild learning disability and intellectual disability on psychological examinations. She had a de novo novel mutation in the LAMP‐2 gene and harbored an identical c.749C > A (p.Ser250X) variant, resulting in a stop codon in exon 6. She showed decreased, but not completely absent LAMP‐2 expression on immunohistochemical and Western blot analyses of a skeletal muscle biopsy specimen, which has been suggested to be caused by...
Source: Neuropathology - Category: Neurology Authors: Tags: Case Report Source Type: research
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