Results 91 to 100 of about 6,614 (250)
Pain After Lower Limb Amputations: Insights from the Heidelberg Amputation Registry
MedicinaBackground and Objectives: The experience of unpleasant sensory phenomena after lower limb amputations (LLAs), including phantom limb pain (PLP), phantom limb sensation (PLS), and residual limb pain (RLP), impacts global healthcare and adversely affects ...
Timo Albert Nees +7 more
doaj +1 more source
Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth +7 more
wiley +1 more source
Phantoms and phantom limbs: history of describing the phenomenon
Эпилепсия и пароксизмальные состояния“Phantom” is the sensation of missing body part. Phantom can occur after amputation of virtually any part of the body, but more often after amputation of the upper or lower limbs defined as a “phantom limb”.
D. I. Korabelnikov +2 more
doaj +1 more source
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
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 +5 more
wiley +1 more source
Effectiveness of intermittent hypoxia on muscle recovery in rats: A systematic review
Animal Models and Experimental Medicine, EarlyView.This systematic review of animal studies evaluated intermittent hypobaric hypoxia (IHH), cold exposure, and their combinations, with or without exercise, on skeletal muscle recovery. IHH enhanced muscle regeneration, reduced fibrosis, improved contractile force, and maintained oxidative capacity, while cold exposure increased mitochondrial activity but
Sebastian Philippe Hansen Quiblier +3 more
wiley +1 more source
Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy
Annals of Neurology, EarlyView.Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos +46 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective The objective of this study was to investigate the ability of patient‐reported/administered outcomes to capture disability worsening and progression independent of relapse activity (PIRA) in multiple sclerosis (MS). Methods We included patients from the longitudinal multicenter MS PATHS cohort with ≥3 assessments and >6 months follow‐up. PIRA
Evy M. Reinders +40 more
wiley +1 more source