Results 91 to 100 of about 22,853,154 (251)
Inherited cavernous malformations of the central nervous system: clinical and genetic features in 19 Swiss families [PDF]
, 2018 Cavernous malformations (CCMs) are benign, well-circumscribed, and mulberry-like vascular malformations that may be found in the central nervous system in up to 0.5% of the population. Cavernous malformations can be sporadic or inherited.
Merlo, A. +11 more
core
Cryoablation of low-flow vascular malformations [PDF]
, 2019 PURPOSEWe aimed to evaluate the safety and effectiveness of cryoablation in the treatment of low-flow malformations, specifically venous malformation (VM) and fibroadipose vascular anomaly (FAVA).METHODSWe conducted a retrospective review of 11 ...
Olaguoke Akinwande +6 more
core +1 more source
Accommodation to Diagnosis of Trigeminal Neuralgia
Acta Clinica Croatica, 2017 Trigeminal neuralgia is one of the most common causes of facial pain. It implies short lasting episodes of unilateral electric shock-like pain with abrupt onset and termination, in the distribution of one or more divisions of the trigeminal nerve that ...
Vanja Bašić Kes, Lucija Zadro Matovina
doaj +1 more source
Advanced Science, EarlyView.This review systematically bridges chronic wound pathology with natural phytochemical hydrogel therapeutics. A pathology‐to‐phytochemical mechanistic mapping framework is established, linking specific wound hallmarks to targeted phytochemical interventions.
Yitao Zhou +8 more
wiley +1 more source
Central nervous malformations in presence of clefts reflect developmental interplay
, 2007 Children with cleft lip and/or cleft palate (CLP) often have additional congenital malformations. The reported incidences are variable and presumed underlying mechanisms are rarely discussed.
Honigmann, K. +4 more
core +1 more source
Peripheral and central nervous system involvement in a patient with primary Sjögren’s syndrome: a case report [PDF]
, 2019 BACKGROUND: Primary Sjögren's syndrome is the second most common rheumatological disorder after rheumatoid arthritis. It typically presents as xerophthalmia and xerostomia in postmenopausal women.
Wagner, Franca +7 more
core +2 more sources
Мать и дитя в Кузбассе, 2018 Purpose of the study – identify the structure of congenital fetal malformation incompatible with life, leading to induced abortion for medical reasons, the structural changes in the future. Materials and methods.
Екатерина Валерьевна Коломбет +2 more
doaj
An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula +8 more
wiley +1 more source
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 +5 more
wiley +1 more source
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
wiley +1 more source