An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation

ConclusionThis rare case of an p.Arg133His hemizygousMECP2 missense mutation could guide future treatment and follow ‐up plans for RETT‐like phenotypes.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research

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Publication date: Available online 25 January 2020Source: Journal of OrthopaedicsAuthor(s): Alex Gu, Frank R. Chen, Aaron Z. Chen, Safa C. Fassihi, Savyasachi Thakkar, Anthony S. Unger, Jiabin Liu, Peter K. Sculco, P. MichaelAbstractIntroductionThe purpose of this study is to investigate the relationship between preoperative hyponatremia and postoperative complications in aseptic revision hip and knee arthroplasty.MethodsAseptic revision arthroplasties from 2007-2016 were collected using a large, United States database. Patients were stratified into eunatremic and hyponatremic cohorts. Rates of complications were collected...
Source: Journal of Orthopaedics - Category: Orthopaedics Source Type: research
ConclusionEstimating the endotracheal tube insertion length in newborns using gestational age resulted in more correctly placed ET tube tips compared to weight.
Source: Journal of Neonatal Nursing - Category: Perinatology & Neonatology Source Type: research
Talking to patients on the phone can be very efficient and quite rewarding, like when I called a worried patient today and told her that her chest CT showed an improving pneumonia and almost certainly no cancer, but a repeat scan some months down the road would still be a good idea. She told me […]Find jobs at  Careers by KevinMD.com.  Search thousands of physician, PA, NP, and CRNA jobs now.  Learn more.
Source: Kevin, M.D. - Medical Weblog - Category: General Medicine Authors: Tags: Physician Primary Care Source Type: blogs
New England Journal of Medicine, Ahead of Print.
Source: New England Journal of Medicine - Category: Internal Medicine Authors: Source Type: research
(CNN) — What started as a mystery virus last month in Wuhan, China, has now killed more than two dozen people and infected hundreds more around the world. In the U.S., the first cases of Wuhan coronavirus were confirmed this week — a man in his 30s who is under observation in Washington state and a Chicago woman in her 60s — stoking fears of an outbreak in this country, though health officials say the risk for Massachusetts residents getting the virus is low. So what are officials doing in the U.S., and how can you minimize your risk? What airports are doing Passengers from Wuhan to the United States &mda...
Source: WBZ-TV - Breaking News, Weather and Sports for Boston, Worcester and New Hampshire - Category: Consumer Health News Authors: Tags: Boston News Health CNN Coronavirus Source Type: news
The new virus comes from a large family of what are known as coronaviruses, some causing nothing worse than a cold. It causes cold- and flu-like symptoms, including cough and fever and, in more severe case, shortness of breath. It can worsen to pneumonia, which can be fatal.
Source: Los Angeles Times - Science - Category: Science Source Type: news
We report the epidemiological, clinical, laboratory, and radiological characteristics and treatment and clinical outcomes of these patients.MethodsAll patients with suspected 2019-nCoV were admitted to a designated hospital in Wuhan. We prospectively collected and analysed data on patients with laboratory-confirmed 2019-nCoV infection by real-time RT-PCR and next-generation sequencing. Data were obtained with standardised data collection forms shared by the International Severe Acute Respiratory and Emerging Infection Consortium from electronic medical records. Researchers also directly communicated with patients or their ...
Source: The Lancet - Category: General Medicine Source Type: research
In this study, we report the epidemiological, clinical, laboratory, radiological, and microbiological findings of five patients in a family cluster who presented with unexplained pneumonia after returning to Shenzhen, Guangdong province, China, after a visit to Wuhan, and an additional family member who did not travel to Wuhan. Phylogenetic analysis of genetic sequences from these patients were done.FindingsFrom Jan 10, 2020, we enrolled a family of six patients who travelled to Wuhan from Shenzhen between Dec 29, 2019 and Jan 4, 2020. Of six family members who travelled to Wuhan, five were identified as infected with the ...
Source: The Lancet - Category: General Medicine Source Type: research
Study Design. Retrospective cohort. Objective. To determine how respiratory failure rates and duration of intensive care unit (ICU) stay after posterior spinal fusion (PSF) for neuromuscular scoliosis compare between children with Rett syndrome (RS) versus cerebral palsy (CP). Summary of Background Data. Rett syndrome and CP are associated with high incidence of neuromuscular scoliosis and respiratory dysfunction. Methods. We included 21 patients with RS (mean age, 13 ± 3.1 yrs) and 124 with CP (mean age, 14 ± 3.2 yrs) who underwent PSF by one surgeon from 2004 to 2017. Preoperative motor f...
Source: Spine - Category: Orthopaedics Tags: HEALTH SERVICES RESEARCH Source Type: research
This study was a retrospective chart review of patients undergoing scoliosis surgery at a tertiary children’s hospital. Patients were divided into 3 groups: (1) adolescent idiopathic scoliosis, (2) neurologic scoliosis, and (3) Rett syndrome. There were 133 patients with adolescent idiopathic scoliosis, 48 patients with neurologic scoliosis, and 8 patients with Rett syndrome. We found that patients with Rett syndrome undergoing scoliosis surgery have higher rates of respiratory failure and longer ventilation times in the postoperative period when compared with both adolescent idiopathic scoliosis and neurologic scoli...
Source: Journal of Child Neurology - Category: Neurology Authors: Tags: Original Articles Source Type: research
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