Results 51 to 60 of about 42,362 (264)
Al-Azhar Assiut Medical Journal, 2020 Background One of the most common deformities that results from untreated obstetric brachial plexus palsy (OBPP) is internal rotation shoulder contracture.
Faisal Hassan Zayed +2 more
doaj +1 more source
The Use of Tongue Depressors instead of Oral Splints in the Treatment of Patients with Perioral Burns [PDF]
مجله علوم پزشکی صدرا, 2019 Face is one the most injured part of the body after burn injuries. Facial burns due to electrical insults, caustic agents, flame and even hot liquids can cause peri-oral scar and mouth contracture named as microstomia. One of the most important action of
Mohammad Rahim Zohreie, Mehdi Ayaz
doaj +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak +4 more
wiley +1 more source
Neonatal Volkmann Ischemic Contracture: Case Report and Review of Literature
American Journal of Perinatology Reports, 2014 Background Neonatal Volkmann ischemic contracture in newborns is a devastating condition with lifelong consequences. Case Report We report a neonate born with necrotic skin lesions and bullae on right dorsal thenar aspect of hand, who ...
Hitesh Agrawal +2 more
doaj +1 more source
Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons +33 more
wiley +1 more source
Наука и инновации в медицинеAim – to identify the features of the formation of upper limb arthropathy in patients with ischemic stroke with 4-6 points on the rehabilitation routing scale (RRS) depending on the type of treatment and rehabilitation procedures. Material and methods.
Lesya V. Chichanovskaya +3 more
doaj +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source