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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Multidisciplinary teams (MDTs) are necessary to deliver the best sarcoma care. Planning the optimal therapeutic strategy per patient requires input and expertise from several disciplines. Case/cohort studies have reported improved patient outcomes associated with treatment by MDTs and/or treatment in sarcoma centres. Many countries have established national networks of sarcoma reference centres and most have developed evidence-based clinical practice guidelines agreed using multidisciplinary expertise. In many countries, sarcoma networks are organised as cooperative groups. These groups are committed to delivering continui...
Source: Oncology - Category: Cancer & Oncology Source Type: research
Here is a discussion I first posted in my Wheat Belly Total Health book, chapter 7: Grainless Living Day-to-Day. Glycemic index, or GI, describes how high blood sugar climbs over 90 minutes after consuming a food compared to glucose. The GI of a chicken drumstick? Zero: No impact on blood sugar. How about three fried eggs? Zero, too. This is true for other meats, oils and fats, seeds, mushrooms, and non-starchy vegetables. You eat any of these foods and blood sugar doesn’t budge, no glycation phenomena follow, no glucotoxic or lipotoxic damage to such things as your pancreas. There is nothing intrinsically wrong...
Source: Wheat Belly Blog - Category: Cardiology Authors: Tags: News & Updates blood sugar gi gluten-free glycemic grain-free grains Inflammation insulin low-carb Source Type: blogs
CONCLUSION: Given the current discussion of society on the subject and the scarcity of publications, it is clear the need to adapt the academic field to complaints of society, as well as reflection of why the problem does not have a significant approach in international setting. PMID: 30540059 [PubMed - in process]
Source: Revista Brasileira de Enfermagem - Category: Nursing Authors: Tags: Rev Bras Enferm Source Type: research
Pancreatic ductal adenocarcinoma (PDAC) has a 5-year survival rate of only 8% and is estimated to be the second leading cause of cancer-related deaths by 2021. Prior convention held that screening for PDAC would not be beneficial; however, a deeper understanding of the carcinogenesis pathway supports a potential window of opportunity among the target population. Screening for PDAC is not a standard practice among the general population because of its low incidence. However, screening may be beneficial for individuals with familial history, chronic diseases with genetic predispositions, or inherited cancer syndromes, such a...
Source: American Journal of Pathology - Category: Pathology Authors: Tags: Review Source Type: research
Conclusions The ES-D is a useful tool for healthcare providers to explore the emotional dimension of their patients. Thus, its development represents a step forward in the improvement of comprehensive assistance and the quality of life of patients with kidney disease undergoing dialysis.
Source: Nursing Research - Category: Nursing Tags: FEATURE ARTICLES Source Type: research
Authors: Tognetto D, De Giacinto C, Perrotta AA, Candian T, Bova A, Rinaldi S, Turco G Abstract Purpose: To compare the capsule edges ultrastructure obtained by two femtosecond laser-assisted cataract surgery (FLACS) platforms and manual continuous curvilinear capsulorhexis (CCC) using scanning electron microscopy (SEM). Setting: Eye Clinic, University of Trieste, Italy. Design: Experimental comparative study. Methods: 150 anterior capsules were collected and divided into three groups as follows: Group 1 (50 capsules) obtained with manual CCC, Groups 2 and 3 (each with 50 capsules) obtained with the Cat...
Source: Journal of Ophthalmology - Category: Opthalmology Tags: J Ophthalmol Source Type: research
This study identified differences in the eating habits of Christian and Muslim university students and determined a possible association between the impact of religion on their lifestyles and the parameters related to cardiovascular risk. A cross-sectional study was performed with a sample population of 257 students (22.4 ± 4.76 year) at the campus of the University of Granada in Melilla (Spain). An anthropometric evaluation and a dietary assessment were performed. Blood pressure was also measured. There was a higher prevalence of overweight (29.1%) among Christian university students. The prevalence of pre-hyperten...
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Article Source Type: research
AbstractThe differential diagnosis of vertigo or dizziness as a result of cerebellar disorders can be difficult as many patients with a cerebellar pathology do not present with the full spectrum of cerebellar signs. The main goal of this study was to describe the typical clinical features of these patients with vertigo or dizziness of a cerebellar origin. We reviewed the medical records of 5400 patients with vertigo and dizziness from our tertiary outpatient clinic for vertigo and balance disorders. In 459 the diagnosis of “cerebellar vertigo or dizziness” was made; 90 patients were excluded from further analys...
Source: The Cerebellum - Category: Neurology Source Type: research
In conclusion, the light sensitivity of photoreceptor cell degeneration arising from Mertk deficiency is consistent with the known phototoxicity of bisretinoids.
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Molecular Bases of Disease Source Type: research
Publication date: Available online 13 December 2018Source: Journal of Molecular BiologyAuthor(s): David C. Thorn, Aidan B. Grosas, Peter D. Mabbitt, Nicholas J. Ray, Colin J. Jackson, John A. CarverAbstractThe reducing environment in the eye lens diminishes with age, leading to significant oxidative stress. Oxidation of lens crystallin proteins is the major contributor to their destabilization and deleterious aggregation that scatters visible light, obscures vision and ultimately leads to cataracts. However, the molecular basis for oxidation-induced aggregation is unknown. Using X-ray crystallography and small angle X-ray ...
Source: Journal of Molecular Biology - Category: Molecular Biology Source Type: research
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