Results 161 to 170 of about 271,820 (266)

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Tri-layer microbiology for LMIC Hospitals: linking syndromic panels with reflex culture and targeted sequencing for real world care - a narrative review. [PDF]

Braz J Infect Dis
Sahu TK, Rathored J, Patil P.
europepmc   +1 more source

“It's Not Deterministic and It Will Never Be Deterministic”: A Qualitative Study on Stakeholder Perspectives of Polygenic Risk Score Testing for Post‐Traumatic Stress Disorder

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Post‐traumatic stress disorder (PTSD) causes significant mental and physical distress, yet only a small subset of individuals exposed to trauma develop the disorder. Scientists and clinicians are still unable to predict who will get the disorder or how it will manifest.
Brandy M. Fox
wiley   +1 more source

Effectiveness of the P2X₃ Antagonist Gefapixant for Refractory Atopic Cough: A Retrospective Cohort Study. [PDF]

J Asthma Allergy
Ishiura Y, Nomura S, Ohkura N, Hara J, Fujimura M, Ito T.   +5 more
europepmc   +1 more source

Withdrawal Reflex to Pain with Crossed Extension Reflex (Labeled)

Pain reflex.
Royal College of Surgeons of Ireland (RCSI)
core  

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Hypertensive Emergency in the Context of SARS-CoV-2 Infection: Clinical Course and Management. [PDF]

Case Rep Cardiol
Bereda G.
europepmc   +1 more source

The Legislation for Providing Animal Access in Australian Residential Aged Care: It's Not a Zoo

Australian Journal of Social Issues, EarlyView.
ABSTRACT Providing meaningful animal contact to residential aged care facility (RACF) residents is problematic due to a lack of animal policies and National Guidelines. This paper examines how Australian Legislation could influence access to animal contact in RACFs and aims to answer the question, ‘Could current Legislation facilitate the development ...
Wendy Newton, Tania Signal, Jenni A. Judd   +2 more
wiley   +1 more source

On the Prospects for African Philosophy in Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper grapples with the situation of people of African descent in Australia by working through the constitution of the body of academic philosophy in the country. It contends with the parochialism of the Australian philosophical community and the prospects for the cultivation of greater pluralism. Taking African philosophy as one possible
Bryan Mukandi
wiley   +1 more source

Ultrasound-Guided Airway Nerve Blocks vs. Lidocaine Topical Anesthesia Using Video-Assisted Laryngoscopy in Suspected Difficult Intubation for Patients Undergoing Bariatric Surgery: A Randomized Clinical Trial. [PDF]

Anesthesiol Res Pract
Hashim RM, Zaki MSM, Elagiby DBN, Taher IAA.   +3 more
europepmc   +1 more source