Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

ConclusionsThe presentation of our patients raises the possibility that hypertrophic cardiomyopathy may be an additional feature of the clinical syndrome associated withUCHL1 mutations, and highlights the importance of cardiac follow-up and treatment in neurodegenerative disease associated withUCHL1 mutations.
Source: Journal of Neurology - Category: Neurology Source Type: research

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Publication date: Available online 2 August 2020Source: Journal of Pharmaceutical and Biomedical AnalysisAuthor(s): Xuejun Xu, Zichen Luo, Yu He, Jinjun Shan, Jianming Guo, Jianping Li
Source: Journal of Pharmaceutical and Biomedical Analysis - Category: Drugs & Pharmacology Source Type: research
Conclusion Cardiac involvement is common and has significant prognostic implications in the evaluated patients with p.Glu89Gln mutation. Heart failure and rhythm disturbances are the main causes of death. An earlier identification of the disease is crucial to improve prognosis.
Source: Journal of Cardiovascular Medicine - Category: Cardiology Tags: Research articles: Heart failure Source Type: research
Conclusions In our study, only a few ECG voltage criteria used for the detection of LVH in clinical practice showed an acceptable performance in the HCM population. Further studies are needed to clarify the role of ECG for LVH detection in HCM patients.
Source: Journal of Cardiovascular Medicine - Category: Cardiology Tags: Research articles: Heart failure Source Type: research
The study examined effectiveness ofpharmaco-cold cardioplegia employing solutions of enhanced buffer capacity during surgery of obstructive hypertrophic cardiomyopathy in adult patients (N=51) operated during 2013-2018. In group 1 (N=28), the cardioplegia was performed with HTK (Custodiol) solution, whereas in group 2 (N=23), it was carried out with Bokeria —Boldyrev ACH solution. The mean, minimum, and maximum ages in group 1 were 46, 21, and 64 years, respectively; in group 2 — 42, 14, and 70 years, respectively. In both groups, the patients were subjected to myoectomy of exit pathway in the left ventricle ac...
Source: Bulletin of Experimental Biology and Medicine - Category: Biology Source Type: research
We describe a case in which septal perforators from the left and right coronary arteries were utilized and review current literature on the management of hypertrophic obstructive cardiomyopathy. PMID: 32737267 [PubMed - as supplied by publisher]
Source: The Journal of Invasive Cardiology - Category: Cardiology Tags: J Invasive Cardiol Source Type: research
AbstractHypertrophic obstructive cardiomyopathy (HOCM) is one of the more common genetic disorders. The pathophysiology and natural history of the disease have been well studied. Left ventricular outflow tract obstruction (LVOTO) and systolic anterior motion (SAM) of the anterior mitral leaflet can result in sudden cardiac death, progressive heart failure and arrythmias. Surgical septal myectomy for HOCM is the standard of care and is routinely performed through a median sternotomy. Septal myectomy has also been performed using the trans ‐atrial, trans‐mitral approach either directly or with robotic assistance. In case...
Source: Journal of Cardiac Surgery - Category: Cardiovascular & Thoracic Surgery Authors: Tags: SURGICAL TECHNIQUE Source Type: research
ConclusionsWe identified a patient with COQ10D4 caused by novelCOQ8A mutations. Our findings widen the spectrum ofCOQ8A gene mutations and clinical manifestations.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
CONCLUSION: DRTT and CPCT analysis using DTT would be useful for diagnosing abnormal movement problems, including tremor and ataxia, in patients following mild TBI. PMID: 32735460 [PubMed - as supplied by publisher]
Source: Brain Injury - Category: Neurology Tags: Brain Inj Source Type: research
Contributors : Marta Seco-Cervera ; Dayme Gonz ález-RodríguezSeries Type : Non-coding RNA profiling by high throughput sequencingOrganism : Homo sapiensFriedreich ’s ataxia (FRDA; OMIM 229300), an autosomal recessive neurodegenerative mitochondrial disease, is the most prevalent hereditary ataxia. In addition, FRDA patients showed additional non-neurological features such as scoliosis, diabetes and cardiac complications. Hypertrophic cardiomyopathy, which i s found in two thirds of patients at the time of diagnosis, is the primary cause of death in these patients. In this data set, using small RNA-seque...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Non-coding RNA profiling by high throughput sequencing Homo sapiens Source Type: research
Conclusions:There are no reported cases in the literature with co-existent findings of sensory ataxia, HCM, and positive VGKC autoantibodies to the best of our knowledge. The spinal syrinx in this patient was an incidental finding, unlikely to have contributed to his symptomatology. However, good response to IVIG therapy is more suggestive of an underlying autoimmune process.Disclosure: Dr. Alessi has nothing to disclose. Dr. Kaur has nothing to disclose. Dr. Manganas has nothing to disclose. Dr. Bindra has nothing to disclose.
Source: Neurology - Category: Neurology Authors: Tags: General Neurology: Ataxia, Spasticity, and Gait Disorders Source Type: research
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