Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome

ConclusionWe showed that the loss of the putative transmembrane domain of SERAC1, due to a novel splice site variant, impairs the protein expression and is responsible for the MEGDHEL syndrome.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research

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Objective: The aim of the study was to analyze the long-term outcomes after cochlear implantation in deaf children with Down syndrome (DS) regarding age at the first implantation and refer the results to preoperative radiological findings as well as postoperative auditory and speech performance. Additionally, the influence of the age at implantation and duration of CI use on postoperative hearing and language skills were closely analyzed in children with DS. Study Design: Retrospective analysis. Setting: Referral center (Cochlear Implant Center). Materials and Methods: Nine children with Down syndrome were compa...
Source: Otology and Neurotology - Category: ENT & OMF Tags: COCHLEAR IMPLANTS Source Type: research
ConclusionsGrowth differentiation factor-15 can be used not only for the diagnosis of mitochondrial disease, but as an indicator of its acute exacerbation. A stroke-like episode of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes reflects a drastic derangement of multiple amino acids. The involvement of aspartic acid in the episodes should be explored in future studies.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
We report a potential association between these two rare anomalies that, to our knowledge, has not been reported. Two brothers presented with sensorineural hearing loss and almost identical inner ear and hypothalamic abnormalities, consistent with a diagnosis of X-linked stapes gusher syndrome and hypothalamic hamartoma. Genetic testing revealed identical mutations in thePOU3F4 gene associated with X-linked stapes gusher syndrome. Furthermore, multiple vestibular diverticula were seen in both brothers, which have also not been reported with X-linked stapes gusher syndrome. This case suggests thatPOU3F4 mediated X-linked st...
Source: Pediatric Radiology - Category: Radiology Source Type: research
CONCLUSION: This case report highlights the importance of prenatal diagnosis through ultrasonography and magnetic resonance imaging. This is the first case report that has antenatal ultrasonographic features in the literature. PMID: 31421982 [PubMed - as supplied by publisher]
Source: Journal of Obstetrics and Gynaecology Canada : JOGC - Category: OBGYN Tags: J Obstet Gynaecol Can Source Type: research
Publication date: Available online 17 June 2019Source: NeuroImageAuthor(s): Anna-Lena Stroh, Frank Rösler, Giulia Dormal, Uta Salden, Nils Skotara, Barbara Hänel-Faulhaber, Brigitte RöderAbstractThe study of deaf and hearing native users of signed languages can offer unique insights into how biological constraints and environmental input interact to shape the neural bases of language processing. Here, we use functional magnetic resonance imaging (fMRI) to address two questions: (1) Do semantic and syntactic processing in a signed language rely on anatomically and functionally distinct neural substrates as it...
Source: NeuroImage - Category: Neuroscience Source Type: research
Shanshan Zhang1, Dongli Yuan2 and Ge Tan1* 1Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China 2The Institute of Medical Information, Chongqing Medical University, Chongqing, China Primary systemic vasculitis can affect every structure in both the central and peripheral nervous system, causing varied neurological manifestations of neurological dysfunction. Early recognition of the underlying causes of the neurological symptoms can facilitate timely treatment and improve the prognosis. This review highlights the clinical manifestations of primary systemic vasc...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Conclusion To conclude, this study suggests a preserved plasticity in the skeletal muscle of a patient with MELAS. More importantly, Resistance Training appears to be a safe and effective method to increase skeletal muscle function in this patient population, and this effect is mediated by both neuromuscular and mitochondrial adaptations. However, particular attention and caution is needed in the interpretation of the data of this single case study and further studies are warranted including larger sample of patients. Ethics Statement For this case study the participant caregiver provided written informed consent. Auth...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
In conclusion, for the radiological assessment of TB fractures, the entire VA should be regarded as a part of the otic capsule, and delayed inner ear sequelae should be anticipated for retrolabyrinthine fracture lines that course into or through the VA. When considering treatment options in cases similar to the present, our findings suggest that surgical interventions targeting the eES (ES shunting/decompression procedures (31–33), which are used in MD with the intention to drain the hydropic endolymphatic fluid space, or to improve the fluid resorptive functions of the eES, respectively, most likely cannot work as p...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Conclusion: We identified a novel non-sense mutation in MTHFR gene in a single Egyptian family with severe MTHFR deficiency. The present investigation is clinically important, as it adds to the growing list of MTHFR mutations, which might help in genetic counseling of families of affected children and proper genotype-phenotype correlation. Background Severe 5,10-Methylenetetrahydrofolate reductase (MTHFR; OMIM 236250) deficiency is a rare inborn error of metabolism and inherited in an autosomal recessive fashion. It is a very common disorder of folate metabolism and is clinically characterized with low plasma methion...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Abstract To investigate the application of inner ear 3-dimensional fluid-attenuated inversion recovery (3D-FLAIR) magnetic resonance imaging (MRI) in patients with sudden sensorineural hearing loss (SSNHL) accompanied by inner ear hemorrhage. A total of 1252 SSNHL patients who were admitted from January 2010 to April 2018 were included in the study. The patients' clinical features, complete blood counts, coagulation profiles, audiometry data, and MRI scans were retrospectively reviewed. Twenty-four patients had high labyrinth signals on inner ear 3D-FLAIR MRI (24/1252, 1.9%) that were diagnosed as inner ear hemorr...
Source: Ear, Nose and Throat Journal - Category: ENT & OMF Authors: Tags: Ear Nose Throat J Source Type: research
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