Results 51 to 60 of about 56,484 (267)

Evaluation of axonal loss in ulnar sensory nerve fibers recorded from ring and little fingers secondary to idiopathic carpal tunnel syndrome in Egyptian patients

Egyptian Rheumatology and Rehabilitation, 2020
Background The association between carpal tunnel syndrome (CTS) and ulnar nerve entrapment is unclear, and the extra-median paresthesia in the ulnar nerve territory innervation in CTS is unexplained.
Aliaa Omar El-Hady, Soad Said Ahmed El Molla, Rehab Ali Ibrahim   +2 more
doaj   +1 more source

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

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Ulnar neuropathy in a patient with multiple schwannomas of the ulnar nerve

Surgical Neurology, 1987
Abstract A patient with ulnar neuropathy was found to have four separate schwannomas along the ulnar nerve.
Department of Neurological Surgery, University of Florida, Gainesville, Florida USA ( host institution ), Shank, Charles P., Friedman, William A.   +2 more
openaire   +3 more sources

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

American 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, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Early and Late Repair after High-level Peripheral Nerve Injury in the Upper Extremity

Turkish Journal of Plastic Surgery
Background: There are several methods developed for the treatment of high-level peripheral nerve injury (HLPNI) in the upper extremity. However, it causes significant loss of motor functions and sensory defects for the patients, and it is a challenging ...
Galip Gencay Üstün, Gökberk Çavuşoğlu, Berkay Sert, Gökhan Sert, Hakan Uzun   +4 more
doaj   +1 more source

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

Normal Ranges of Ulnar and Radial Deviation with Reference to Ulnar Variance [PDF]

Journal of International Medical Research, 2004
We aimed to determine the normal ranges of radial and ulnar deviation of the wrist in relation to the ulnar variance. A total of 102 healthy subjects (204 wrists) were included in the study. The ranges of radial and ulnar deviation of the wrists were measured using a universal goniometer.
Karatosun, VASFİ AKINCI, Unver, B, Gocen, Z, Sen, A, Gunal, I   +4 more
openaire   +3 more sources

Clinical Outcomes and Prognostic Factors of Median and Ulnar Nerve Grafts: A 10-Year Retrospective Study

Surgeries
Background/Objectives: Peripheral nerve injuries of the median and ulnar nerves frequently cause significant functional impairment in young patients.
Yassine Trabelsi, Khairi Saibi, Lilya Sellami, Mouna Ounaies   +3 more
doaj   +1 more source