VPS13D ‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia

ConclusionIn the present study, we found four patients in three Japanese families with novelVPS13D mutations, which may broaden the clinical and genetic findings forVPS13D‐related disorders.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research

Related Links:

AbstractObjectiveTo investigate the possible role of serum norepinephrine (NE), leptin and 5 ‐hydroxytryptamine (5‐HT) and their correlations with sympathetic skin response located in the penis (PSSR) in primary premature ejaculation (PPE).MethodsWe compared the serum level of NE, leptin and 5 ‐HT, Intravaginal ejaculatory latency time(IELT) and The Premature Ejaculation Diagnostic Tool (PEDT) scores between 57 PPE patients and 42 healthy control men as controls, who were recruited between September 2016 and January 2019. Additionally, the amplitude and latency of PSSR were measured and compared between the two group...
Source: Andrology - Category: Urology & Nephrology Authors: Tags: ORIGINAL ARTICLE Source Type: research
UK prepares evacuation flight for cruise ship passengers. Follow the latest newsBritish couple on Diamond Princess test positiveSenior doctor dies in WuhanWhat is the coronavirus?Share your experiences6.10pmGMTRussia will suspend entry of Chinese citizens to its territory starting from 20 February, Russian authorities in charge of coronavirus prevention have said.The suspension will be for Chinese citizens entering Russia for employment, private, educational and tourist purposes.5.54pmGMTIf you ’re just catching up, here is a quick rundown of the latest global coronavirus developments over the past few hours:Continue reading...
Source: Guardian Unlimited Science - Category: Science Authors: Tags: Coronavirus outbreak China Global economy Asia Pacific Business Economics Infectious diseases Science Japan World news UK news Source Type: news
A couple from Japan tested positive for novel coronavirus shortly after visiting Hawaii this month, and Delta Airlines says it is notifying passengers who were on their flight home about the couple's diagnosis.
Source: CNN.com - Health - Category: Consumer Health News Source Type: news
More than a dozen Americans evacuated on US-chartered flights from a cruise ship docked in Japan were being tested for the novel coronavirus at the University of Nebraska Medical Center, health officials said Monday.
Source: CNN.com - Health - Category: Consumer Health News Source Type: news
Fourteen passengers from the Diamond Princess had tested positive for coronavirus before they boarded evacuation flights, the US departments of State and Health and Human Services said while the flights were en route to the Texas and California.
Source: CNN.com - Health - Category: Consumer Health News Source Type: news
More than 10 percent of the country ’s population faces restrictions on how often they can leave their homes.
Source: NYT Health - Category: Consumer Health News Tags: Coronavirus (2019-nCoV) Deaths (Fatalities) Epidemics Cruises China Hubei Province (China) Japan Cambodia Source Type: news
Conditions:   Marfan's Syndrome With Ocular Manifestations;   Pseudoexfoliation Syndrome;   Cataract;   Phakodonesis;   Ectopia Lentis Intervention:   Sponsors:   Anglia Ruskin University;   Southend University Hospital Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Cataract Intervention:   Drug: Dexycu intracameral dexamethasone Sponsor:   MDbackline, LLC Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
A growing number of countries around the world are evacuating or planning to evacuate diplomatic staff and citizens from parts of China and a cruise ship in Japan hit by the new coronavirus.
Source: Reuters: Health - Category: Consumer Health News Tags: healthNews Source Type: news
Italian fashion house Prada has put off a show in Japan in May due to the coronavirus outbreak in China, it said on Tuesday.
Source: Reuters: Health - Category: Consumer Health News Tags: healthNews Source Type: news
More News: Ataxia | Cataracts | Dystonia | Genetics | Haiti Health | Japan Health | Reflex Sympathetic Dystrophy | Study