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Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene

PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Clinical Short Communication Source Type: research

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CONCLUSIONS: In this pilot study, a quantitative difference was found in the protein expression of humor among patients with glaucoma, there being 27 proteins unique to patients with glaucomatous disease. PMID: 29439810 [PubMed - as supplied by publisher]
Source: Archivos de la Sociedad Espanola de Oftalmologia - Category: Opthalmology Tags: Arch Soc Esp Oftalmol Source Type: research
Improved retinal and visual function following panmacular subthreshold diode micropulse laser for retinitis pigmentosa, Published online: 16 February 2018; doi:10.1038/s41433-018-0017-3Improved retinal and visual function following panmacular subthreshold diode micropulse laser for retinitis pigmentosa
Source: Eye - Category: Opthalmology Authors: Source Type: research
This article seeks to demonstrate that the role of data and informatics in supporting value-based care goes much further than the collection and remote analysis of big datasets – in fact, the true benefit sits much closer to the interaction between clinician and patient. Data collection – costing and outcomes Costing Costing of healthcare for value should be done for the whole patient journey. This is important as it is not possible for value to be created in a service alone – it has to be assessed in terms of the outcomes delivered relative to the investment in all possible interventions for a particul...
Source: The Health Care Blog - Category: Consumer Health News Authors: Tags: Uncategorized Data Informatics International United Kingdom value-based care Source Type: blogs
" In most cases, the molecular consequences of disease, or trait-associated variants for human physiology, are not understood. " from: Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, et al. Finding the missing heritability of complex diseases. Nature 2009;461:747 –53. The 1960s was a wonderful decade for the field of molecular genetics. Hundreds of inherited metabolic diseases were being studied. Most of these diseases could be characterized by a simple inherited mutation in a disease-causing gene. Back then, we thought we understood genetic diseases. Here ’s how it all might hav...
Source: Specified Life - Category: Information Technology Tags: genetic heterogeneity genetics multi-step pathogenesis precision medicine Source Type: blogs
This is a case report describing a 53-year-old woman with Charcot-Marie-Tooth disease, obstructive sleep apnea, and a 6-year history of numbness in bilateral upper extremities, feet, and in the trunk that resolved with initiation of continuous positive airway pressure for her obstructive sleep apnea.Citation:Polat P, Pham H, Li J, Bagai K. Improvement of neuropathy symptoms with treatment of obstructive sleep apnea in a patient with Charcot-Marie-Tooth disease.J Clin Sleep Med. 2018;14(2):289–291.
Source: Journal of Clinical Sleep Medicine : JCSM - Category: Sleep Medicine Source Type: research
Rubella virus (RV) is only found in humans and is transmitted by aerosol via the respiratory tract. It is responsible of a mild viral disease that typically occured in childhood before introduction of vaccination. The risks of congenital infection and defects depend on the gestational age at infection. A RV infection during embryogenesis often leads to the classic triad of cataracts, cardiac abnormalities and sensorineural deafness, but many other defects may be observed. RV was first isolated in 1962, in the following years serologic assays were developed, and in 1969, three rubella vaccines (HPV-77, Cendehill and RA27/3)...
Source: Journal of Clinical Virology - Category: Virology Authors: Tags: Review article Source Type: research
Publication date: Available online 11 January 2018 Source:Journal of American Association for Pediatric Ophthalmology and Strabismus Author(s): Claudia Corredor-Ortega, Roberto Gonzalez-Salinas, María José Montero, Rocío González-Flores, Allan Collura–Merlier, Guadalupe Cervantes-Coste, Erick Mendoza-Schuster, Cecilio Velasco-Barona Pediatric cataract surgery poses a significant challenge for the cataract surgeon, in part because an elastic anterior capsule can make capsulorhexis difficult. With the use of femtosecond laser–assisted cataract surgery (FLACS), however, the continuous ...
Source: Journal of American Association for Pediatric Ophthalmology and Strabismus - Category: Opthalmology Source Type: research
CONCLUSIONS: Our success rate was inferior to the EUREQUO and RCOphth NOD studies, with the percentage of patients acquiring a postoperative VA ≤0.3logMAR being 98% and 89%, respectively. However, the populations were not comparable. It is hoped that this study will encourage other public hospitals in Spain to undertake audits and share their results, in order to provide a tool for constructive criticism and quality improvement initiatives. PMID: 29433842 [PubMed - as supplied by publisher]
Source: Archivos de la Sociedad Espanola de Oftalmologia - Category: Opthalmology Tags: Arch Soc Esp Oftalmol Source Type: research
CONCLUSIONS: HLE cell-line exhibited a bi-phasic response in terms of cell viability, ROS and RNS profiles. At doses 0.5 Gy) a steady increase was observed in each metabolite. This response was observed irrespective of dose-rate. Among the associations tested, cl, p, m-tyrosine and 3-nitrotyrosine revealed changes (p 
Source: International Journal of Radiation Biology - Category: Radiology Tags: Int J Radiat Biol Source Type: research
Conclusion: Rapid and severe anterior capsular contraction following cataract surgery is rare but appears to be associated with rod-cone dystrophy.Case Rep Ophthalmol 2018;9:149 –153
Source: Case Reports in Ophthalmology - Category: Opthalmology Source Type: research
More News: Ataxia | Brain | Cataracts | Charcot-Marie-Tooth Disease | Genetics | Neurology | Retinitis Pigmentosa | Spain Health