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Total 206 results found since Jan 2013.

Phenotypes of undiagnosed adults with actionable < em > OTC < /em > and < em > GLA < /em > variants
HGG Adv. 2023 Jul 29;4(4):100226. doi: 10.1016/j.xhgg.2023.100226. eCollection 2023 Oct 12.ABSTRACTInherited metabolic disorders (IMDs) are variably expressive, complicating identification of affected individuals. A genotype-first approach can identify individuals at risk for morbidity and mortality from undiagnosed IMDs and can lead to protocols that improve clinical detection, counseling, and management. Using data from 57,340 participants in two hospital biobanks, we assessed the frequency and phenotypes of individuals with pathogenic/likely pathogenic variants (PLPVs) in two IMD genes: GLA, associated with Fabry diseas...
Source: Adv Data - August 18, 2023 Category: Epidemiology Authors: Jessica I Gold Sarina Madhavan Joseph Park Hana Zouk Emma Perez Alanna Strong Theodore G Drivas Amel Karaa Marc Yudkoff Daniel Rader Regeneron Genetics Center Penn Medicine BioBank Robert C Green Nina B Gold Source Type: research

Extreme Heat Is Endangering America ’ s Workers —And Its Economy
This project was supported by the Pulitzer Center 7 A.M.: COPELAND FARMS—ROCHELLE, GA Just after dawn on a recent July day in Rochelle, Ga., Silvia Moreno Ayala steps into a pair of sturdy work pants, slips on a long-sleeved shirt, and slathers her face and hands with sunscreen. She drapes a flowered scarf over her wide-brimmed hat to protect her neck and back from the punishing rays of the sun. There isn’t much she can do about the humidity, however. Morning is supposed to be the coolest part of the day, but sweat is already pooling in her rubber boots. [time-brightcove not-tgx=”true”] ...
Source: TIME: Health - August 3, 2023 Category: Consumer Health News Authors: Aryn Baker / Georgia Tags: Uncategorized climate change Climate Is Everything feature healthscienceclimate Source Type: news

Will unpredictable side effects dim the promise of new Alzheimer ’s drugs?
A sea change is underway in the treatment of Alzheimer’s disease, where for the first time a drug that targets the disease’s pathology and clearly slows cognitive decline has hit the U.S. market. A related therapy will likely be approved in the coming months. As many neurologists, patients, and brain scientists celebrate, they’re also nervously eyeing complications from treatment: brain swelling and bleeding, which in clinical trials affected up to about one-third of patients and ranged from asymptomatic to fatal. The side effect—amyloid-related imaging abnormalities, or ARIA—remains mysterious. “We don’...
Source: Science of Aging Knowledge Environment - August 2, 2023 Category: Geriatrics Source Type: research

I survived a stroke at 20 - here's the subtle symptom that I ignored
EXCL: Esmae Hodgetts from Chesterfield spent her New Years' Eve in hospital after collapsing at home. She felt neck and shoulder pain building up, then she was hit with a 'stabbing' headache.
Source: the Mail online | Health - July 29, 2023 Category: Consumer Health News Source Type: news

Can Patent Foramen Ovales Cause Problems?
Discussion During fetal development, the heart primum and secundum septa grow and overlap leaving a small but important channel between the two atria. The foramen ovale is a flap valve moving blood from the right atrium into the left atrium directly and bypassing the high pressure pulmonary system. After birth and breathing air, the neonate’s lungs open up and the pulmonary vascular resistance decreases. The left atrium now has a relatively higher pressure than the right atria, and therefore pressure on the flap valve closes the foramen ovale. Usually within 6-12 months, the fusion of the primum and secundum of the f...
Source: PediatricEducation.org - July 24, 2023 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

Scientists Are Just Beginning to Understand COVID-19 ’ s Effect On the Brain
Early in the COVID-19 pandemic, doctors started to notice something striking. For what was originally described as a respiratory virus, SARS-CoV-2 seemed to have a strong effect on the brain, causing everything from loss of taste and smell and brain fog to, in serious cases, stroke. NYU Langone Health, a New York city research hospital, started collating those anecdotes in hopes of better understanding how the virus affects the brain and nervous system. Years later, the project has morphed from focusing solely on acute symptoms to also tracking the long-term neurologic issues that some people with Long COVID experience, sa...
Source: TIME: Health - July 17, 2023 Category: Consumer Health News Authors: Jamie Ducharme Tags: Uncategorized COVID-19 healthscienceclimate Source Type: news

Agitation and somnolence by bilateral paramedian thalamic infarct
Key Clinical MessageBilateral thalamic infarction in paramedian artery territory may present with severe acute illness, confusion, coma and memory impairment. However, subtle clinical presentation as in our case should alert the clinician to consider such a diagnosis as it can be associated with good prognosis.AbstractBilateral thalamic infarct is a rare form of stroke. Mostly thalamic infarcts are unilateral. In most cases, bilateral thalamic infarction leads to cognitive dysfunction, opthalmoparesis, conscious impairment, behavioral disturbance, and corticospinal dysfunction. Here, we describe the case of a 75-year-old m...
Source: Clinical Case Reports - June 20, 2023 Category: General Medicine Authors: Mohamed Sheikh  Hassan, Nor Osman Sidow, Abdiladhif Mohamed Ali, Mohamed Farah Osman, Abdiwahid Ahmed Ibrahim, Said Abdirahman Ahmed Tags: CASE REPORT Source Type: research

Know your stroke mimics
A developmentally normal and previously well 15-year-old boy, presented to hospital with a 4-hour history of gradually worsening, throbbing, left-sided headache spreading across his whole head. Four hours prior, he could not read properly or string words together and felt tired. He developed a headache followed by expressive aphasia, agitation and vomiting. A right-sided lower facial droop was noted that resolved in a couple of hours. He played a rugby match in the morning and there was a history of minor head injury without loss of consciousness. He started to develop self-resolving apnoeic episodes each lasting for 30&nd...
Source: Archives of Disease in Childhood - Education and Practice - March 17, 2023 Category: Pediatrics Authors: Hanna, D., Holland, J., Lichtblau, N., Maduakor, C., Khan, F., Kerr, T. Tags: Epilogue Source Type: research

Stroke territory and atherosclerosis in ischemic stroke patients with a history of migraine with aura
DISCUSSION: Cryptogenic and cerebellar stroke and fewer vascular risk factors and clinical atherosclerosis seem to characterize stroke patients with MA.PMID:36923493 | PMC:PMC10008946 | DOI:10.3389/fneur.2023.1142424
Source: Atherosclerosis - March 16, 2023 Category: Cardiology Authors: Claudia Altamura Giovanna Viticchi Angelo Cascio Rizzo Paola Maggio Nicoletta Brunelli Marilena Marcosano Vincenzo Di Lazzaro Fabrizio Fiacco Elio Clemente Agostoni Mauro Silvestrini Fabrizio Vernieri Source Type: research

Community Perception of Climate Change and Extreme Heat Influences on Health: Study of Kolkata Metropolitan Region
This study aimed to understand community perception about climate change and extreme heat influences on health. It was conducted in the Kolkata Metropolitan Region through a comprehensive interview of 56 participants by using purposive sampling methods. The information was obtained through in-depth interviews and focus group discussions. The data was analyzed using the narrative analysis method based on the transcribed notes. The collected information was made into a summary and then categorized with the chronology. Information was presented in the subsections of urban expansion influence on the regional climate, contribut...
Source: Global Social Welfare - March 6, 2023 Category: International Medicine & Public Health Source Type: research

New VOYAGER PAD Analysis Confirms Consistent Benefit of XARELTO ® (rivaroxaban) Plus Aspirin Following Lower Extremity Revascularization (LER)
TITUSVILLE, NJ, March 5, 2023 – The Janssen Pharmaceutical Companies of Johnson & Johnson today announced data from a new prespecified analysis from the Phase 3 VOYAGER PAD clinical trial reinforcing the benefits of the XARELTO® (rivaroxaban) vascular dose (2.5 mg twice daily plus aspirin 100 mg once daily) over standard of care (aspirin alone), demonstrating consistent benefit at 30 days, 90 days and up to three years following LER in patients with PAD. Lower extremity revascularization, also called peripheral revascularization, is a procedure that restores blood flow in blocked arteries or veins. This analysis of ...
Source: Johnson and Johnson - March 5, 2023 Category: Pharmaceuticals Tags: Latest News Source Type: news

Stroke territory and atherosclerosis in ischemic stroke patients with a history of migraine with aura
DiscussionCryptogenic and cerebellar stroke and fewer vascular risk factors and clinical atherosclerosis seem to characterize stroke patients with MA.
Source: Frontiers in Neurology - February 27, 2023 Category: Neurology Source Type: research

Scientists tie third clinical trial death to experimental Alzheimer ’s drug
As enthusiasm mounts for a new experimental antibody that appears to slow cognitive decline in some Alzheimer’s patients, a third death linked to the drug during its clinical testing may amplify concerns about its safety. Science has obtained medical records showing a 79-year-old Florida woman participating in an ongoing trial of the antibody died in mid-September after experiencing extensive brain swelling and bleeding, as well as seizures. Multiple neuroscientists who reviewed the records at Science ’s request believe her death was likely caused by the antibody, lecanemab. “The brain swelling and t...
Source: ScienceNOW - December 21, 2022 Category: Science Source Type: news

Association of body mass index with COVID-19-related neurologic sequelae: a retrospective cohort study
This study demonstrates the absence of an association between BMI and neurologic manifestations following acute COVID-19 illness. Prospective studies using standardized data collection tools and direct measures of body fat are warranted to obtain more valid effect estimates.
Source: Clinical and Experimental Medicine - December 16, 2022 Category: Research Source Type: research