Results 31 to 40 of about 1,427,337 (238)

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto   +5 more
wiley   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom   +5 more
wiley   +1 more source

Effects of an Inpatient Program on Medication Errors in Hospitalized People with Parkinson's Disease

open access: yesAnnals of Neurology, EarlyView.
Objective Hospitalized people with Parkinson's disease (PwP) face increased risks of medication errors and discharge to non‐home settings, both of which are associated with adverse outcomes. This study assessed differences in medication error rates and discharge outcomes before and after implementation of a dedicated inpatient program for hospitalized ...
Camila C. Piccinin   +15 more
wiley   +1 more source

The dead still teach the living: Body donor dissection in the digital age of anatomy education

open access: yesAnatomical Sciences Education, EarlyView.
Abstract Donor‐based dissection has become increasingly contested in modern medical curricula as digital anatomy platforms, simulation technologies, virtual dissection tables, three‐dimensional reconstructions, and artificial intelligence‐supported learning have expanded.
Uğur Baran Kasırga
wiley   +1 more source

Intractable Facial Pain and Numb Chin due to Metastatic Esophageal Adenocarcinoma

open access: yesCase Reports in Oncology, 2014
The etiologies of facial pain are innumerable, thus facial pain misdiagnosis and resultant mismanagement is common. Numb chin syndrome presents with hypoesthesia and/or anesthesia in the dermatomal distribution of the inferior alveolar or the mental ...
Foad Elahi, Whitney Luke, Fazel Elahi
doaj   +1 more source

Ramsay Hunt syndrome affecting the vagus nerve with epiglottic ulcers as the first manifestation: a case report

open access: yesJournal of International Medical Research, 2020
Ramsay Hunt syndrome involving the vagus nerve is very rare. We herein describe a 53-year-old man who developed severe pharyngeal pain after alcohol intoxication. Antibiotic treatment was ineffective. Laryngoscopy showed an ulcer on the right side of the
Jie Zhang, Xuemei Wei
doaj   +1 more source

Grading the intensity of nondental orofacial pain: Identification of cutoff points for mild, moderate, and severe pain [PDF]

open access: yes, 2015
Background: When assessing pain in clinical practice, clinicians often label pain as mild, moderate, and severe. However, these categories are not distinctly defined, and are often used arbitrarily.
Zakrzewska, JM, Brailo, V
core  

Long‐Term Risk of Rheumatoid Arthritis in Individuals With Autism Spectrum Disorder: A Population‐Based Matched Cohort Study

open access: yesAutism Research, EarlyView.
ABSTRACT To investigate the long‐term risk of rheumatoid arthritis (RA) among individuals with autism spectrum disorder (ASD), addressing potential immune comorbidity in ASD populations. A population‐based matched cohort was assembled using Swedish registers, including 46,164 individuals diagnosed with ASD between 1987 and 2017, matched to 4,634,895 ...
Evora Hailin Zhu   +10 more
wiley   +1 more source

Antidepressant Misuse in Esports: A Review of Pharmacology, Adverse Effects, Pharmacokinetics and Biomatrix‐Based Detection for Anti‐Doping Applications

open access: yesDrug Testing and Analysis, EarlyView.
This review highlights the misuse of antidepressants as potential cognitive‐enhancing agents in Esports. Despite pharmacological effects that overlap with those of psychostimulants, antidepressants remain an under‐recognised source of doping in Esports.
Kassim Ali Salum   +4 more
wiley   +1 more source

Cystic Vestibular Schwannomas and Post–Gamma Knife Radiosurgery-Induced Necrosis of Vestibular Schwannomas: Report of Two Cases and Review of Literature

open access: yesAsian Journal of Oncology, 2020
Cystic vestibular schwannomas (VS) form a rare subgroup that differs from the solid variant clinically and radiologically. Certain unique features reported in cystic VS are larger size, presentation with atypical initial symptoms such as dysgeusia ...
Reddy Ravikanth   +2 more
doaj   +1 more source

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