Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.

Conclusions: We have reported three new cases with pathogenic variants in PEX6 presenting with milder forms of the Zellweger spectrum disorders (ZSD). The three cases showed distinct clinical features. Thus, expanding the phenotypic spectrum of PBDs and ascertaining exome sequencing is an effective strategy for an accurate diagnosis of clinically overlapping and genetically heterogeneous disorders such as deafness-blindness association. PMID: 32214787 [PubMed - in process]
Source: Molecular Vision - Category: Molecular Biology Tags: Mol Vis Source Type: research

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Authors: Ali S, Sirota E, Ali H, Bezrukov E, Okhunov Z, Bukatov M, Letunovskiy A, Grygoriev N, Taratkin M, Vovdenko S, Afyouni A, Alyaev Y Abstract Objective: We sought to improve the educational and pre-operative training on various stages of percutaneous nephrolithotomy (PCNL) under fluoroscopic and ultrasound guidance. We developed a three-dimensional (3D) printed simulator (3D-printed PCNL model) for urological trainees.Methods: 40 s year urology residents were randomly assigned into two groups, completing PCNL surgical steps on a URO Mentor™ surgical simulator (Group A) or on our new 3D-printed PC...
Source: Scandinavian Journal of Urology - Category: Urology & Nephrology Tags: Scand J Urol Source Type: research
Hello all! I am a current second-year medical student interested in pursuing the 6 year residency in Neurodevelopmental Disabilities. I have a younger sister with Down's syndrome and have taught swimming to children with special needs and worked for many years at summer camps for children with special needs. Working with kids with complex neurodevelopmntal disabilities and their families is my passion. During my med school studies, I have found great interest in neurology as well. I am... What separates Neurodevelopmental Disabilities(NDD) from Developmental-Behavioral Pediatrics?
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Pediatrics Source Type: forums
CONCLUSIONS In this Caribbean population, uncontrolled asthma was independently associated with obesity, late-onset disease, and comorbidities of sleep apnea and depression. Poor asthma-related quality of life was independently associated with Indo-Caribbean ethnicity. PMID: 32493146 [PubMed - as supplied by publisher]
Source: Journal of Asthma - Category: Respiratory Medicine Tags: J Asthma Source Type: research
The objective of this study was to provide an overview of whether adherence to brain trauma foundation (BTF) guidelines improved outcomes following TBI utilizing intracranial pressure (ICP) monitoring. Methods: This cohort study between 2000 and 2013 involved 1848 patients who sustained severe blunt TBI. Outcomes were correlated with whether or not ICP monitoring was utilized based on BTF guidelines. Results: The BTF guideline adherence rate for utilizing ICP monitoring in patients with TBI was 30% in 1848 patients. Adherence rates positively correlated with younger age, high injury severity scores, lower Glasgow C...
Source: Surgical Neurology International - Category: Neurosurgery Tags: Surg Neurol Int Source Type: research
Publication date: August 2020Source: Research in Developmental Disabilities, Volume 103Author(s): Ines Van keer, Nadja Bodner, Eva Ceulemans, Karla Van Leeuwen, Bea Maes
Source: Research in Developmental Disabilities - Category: Disability Source Type: research
Publication date: August 2020Source: Research in Developmental Disabilities, Volume 103Author(s): Esther Adi-Japha, Gitit Brestel
Source: Research in Developmental Disabilities - Category: Disability Source Type: research
Publication date: Available online 4 June 2020Source: Progress in NeurobiologyAuthor(s): Elisa Cainelli, Filippo Arrigoni, Luca Vedovelli
Source: Progress in Neurobiology - Category: Neuroscience Source Type: research
Authors: Du WJ, Wang J, Wang Q, Yuan LJ, Lu ZX Abstract Context/objective: At present, there is no consensus on the most effective surgical method for treating symptomatic lumbar spinal stenosis (LSS). Total laminectomy, which is frequently used at this time, destroys the posterior midline structure, causing many postoperative complications. We have designed a new surgical approach instead of total laminectomy. In this paper, we aimed to describe the surgical method of endoscopic modified total laminectomy for lumbar spinal stenosis as well as to explore its early efficacy.Participants: Patients with symptomatic LS...
Source: Journal of Spinal Cord Medicine - Category: Orthopaedics Tags: J Spinal Cord Med Source Type: research
Org. Biomol. Chem., 2020, Accepted Manuscript DOI: 10.1039/D0OB01084G, PaperAurea Rivas, Raquel Pequerul, Vito Barracco, Marta Dominguez Seoane, Susana L ópez, Rafael Jiménez, Xavier Pares, Rosana Alvarez, Jaume Farres, Angel R. de LERA The human aldo-keto reductases (AKRs) are enzymes involved in the reduction, among other substrates, of all-trans-retinal to all-trans-retinol (vitamin A), thus contributing to the control of the levels of retinoids... The content of this RSS Feed (c) The Royal Society of Chemistry
Source: RSC - Organic and Biomolecular Chemistry - Category: Molecular Biology Authors: Source Type: research
Conclusion: This study concluded that the knowledge level of college students on Alzheimer's disease is below moderate. The findings concluded that there is association between faculty and knowledge score. PMID: 32494366 [PubMed]
Source: International Journal of Alzheimers Disease - Category: Geriatrics Tags: Int J Alzheimers Dis Source Type: research
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