Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome PEDIATRICS

CONCLUSIONS: Patients with CHARGE syndrome have a high prevalence of characteristic cerebellar heterotopias and disorganized foliation and abnormal cerebellar morphology, thereby expanding the phenotype of cerebellar dysgenesis in this syndrome.
Source: American Journal of Neuroradiology - Category: Radiology Authors: Tags: PEDIATRICS Source Type: research

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This study was conducted to quantify and analyze both types of tonsil surgery in Germany. METHODS: Data from the Federal Office of Statistics on the number of procedures and population size were used to calculate annual intervention rates between 2005 and 2017. Percentual changes in intervention rates compared to the previous year were calculated for Germany, for the total number of ENT specialists, for the ENT specialists of the federal states, and for four age groups (≤10; ≤20; ≤40;>40 years). RESULTS: Regression analysis revealed a significant decrease in (adeno)tonsillectomy and a signific...
Source: HNO - Category: ENT & OMF Tags: HNO Source Type: research
Smith &Nephew has acquired Tusker Medical, a company that has developed Tula, a system to treat recurrent or persistent ear infections. The London-based company kept the financial details of the deal mum. The acquisition comes hot on the heels of CA-based Tusker Medical obtaining a PMA from FDA for Tula. MD+DI included the Tula system in a list of Devices Recently Approved by FDA. The system enables placement of ear tubes in the physician’s office without general anesthesia for patients six months and older. Using Tula, a physician numbs the eardrum using, child-friendly anesthesia while the patient m...
Source: MDDI - Category: Medical Devices Authors: Tags: Implants Business Source Type: news
Discussion: Since a true short esophagus diagnosis depends on transurgical findings, pediatric surgeons should notice this entity when practicing any antireflux procedure. Laparoscopic Collis-Nissen approach is safe and efficient in these patients. PMID: 31967614 [PubMed - in process]
Source: Cirugia y Cirujanos - Category: Surgery Authors: Tags: Cir Cir Source Type: research
Conclusions: The present study is the largest to show the high incidence and characteristics of cholangitis after KPE in patients with biliary atresia. Enterococcus is a common pathogen of cholangitis after KPE and should be considered when choosing empiric antimicrobial therapy.
Source: Journal of Pediatric Gastroenterology and Nutrition - Category: Gastroenterology Tags: Original Articles: Hepatology Source Type: research
The deafness-associated m.12201T>C mutation affects the A5-U68 base-pairing within the acceptor stem of mitochondrial tRNAHis. The primary defect in this mutation is an alteration in tRNAHis aminoacylation. Here, we further investigate the molecular mechanism of the deafness-associated tRNAHis 12201T>C mutation and test whether the overexpression of the human mitochondrial histidyl-tRNA synthetase gene (HARS2) in cytoplasmic hybrid (cybrid) cells carrying the m.12201T>C mutation reverses mitochondrial dysfunctions. Using molecular dynamics simulations, we demonstrate that the m.12201T>C mutation perturbs the tR...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: RNA Source Type: research
AbstractWaardenburg-Shah syndrome is a rare autosomal recessive [AR] inherited disorder characterized by the presence of Hirschsprung ’s disease with a high likelihood of aganglionic megacolon, due to which the mortality is high. The management of the condition involves surgical intervention for the removal of the aganglionic segment of the colon. Here, we report a neonate that presented with a white forelock, white eyelashes, i ris hypopigmentation, and sensorineural deafness associated with bilious vomiting, refusal to feed, and failure to pass meconium indicating intestinal obstruction.
Source: Perioperative Medicine - Category: Surgery Source Type: research
Abstract Netherton syndrome (NS) is a rare autosomal recessive ichthyosis syndrome, which manifests at birth or shortly thereafter, and is characterized by erythroderma, ichthyosis linearis circumflexa, trichorrhexis invaginata, immunodeficiency, failure to thrive and high serum IgE level.1 Approximately 80 different mutations in exonic and intronic regions of the SPINK5 gene have been reported, resulting in deficiency of lymphoepithelial Kazal type inhibitor (LEKTI), a serine protease inhibitor in epithelia, thymus, tonsils, parathyroid glands and trachea. Treatment of NS has always been challenging2 , but eviden...
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research
To investigate the prognostic value of demographic, functional, and imaging parameters on retinal pigment epithelium (RPE) atrophy progression secondary to Maternally Inherited Diabetes and Deafness (MIDD) and to evaluate the application of these factors in clinical trial design.
Source: American Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Original Articles Source Type: research
Genetics in Medicine, Published online: 24 January 2020; doi:10.1038/s41436-019-0745-1Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project
Source: Genetics in Medicine - Category: Genetics & Stem Cells Authors: Source Type: research
ConclusionAs the hereby reported condition is very rare, the results cannot be compared with any similar report published previously. Nevertheless, based on the outcome, the treatment strategy seems to be both reasonable and effective.
Source: European Archives of Oto-Rhino-Laryngology - Category: ENT & OMF Source Type: research
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