Results 71 to 80 of about 41,289 (275)
Neurology and Clinical Neuroscience, EarlyView.ABSTRACT Distal hereditary motor neuronopathy‐7 (HMNR7) is an autosomal recessive VWA1‐related disorder characterized predominantly by distal motor involvement. A 41‐year‐old man with a history of childhood orthopedic surgery for foot deformities exhibited progressive distal weakness and muscle atrophy with lower limb predominance. Electrophysiological
Toshiyuki Kakumoto +4 more
wiley +1 more source
Journal of Pediatric Surgery OpenBackground: The lipomodeling technique has transformed the management of Poland syndrome-associated thoraco-mammary deformities. Complex type 3 cases with significant thoracic deformity often require a combined approach, including the latissimus dorsi ...
Gwenola Mambour +4 more
doaj +1 more source
Charcot Foot and the Osteoclast: More Than Just Cytokines
Foot & Ankle Orthopaedics, 2019 Category: Basic Sciences/Biologics Introduction/Purpose: Charcot foot is a serious complication of diabetes present in up to 13% carrying with high morbidity (dislocations, fractures, deformities) and up to 14% mortality.
Sébastien Stephens MD, PhD +1 more
doaj +1 more source
Biallelic SCO2 Variants Presenting as Motor-Predominant Axonal Neuropathy With Complex IV Deficiency. [PDF]
J Peripher Nerv SystABSTRACT Background and Aims SCO2 encodes a mitochondrial copper chaperone required for cytochrome c oxidase (COX) assembly and is classically associated with severe multisystem mitochondrial disease. We characterize a motor‐predominant axonal neuropathy presentation associated with biallelic SCO2 variants.
Rebelo AP +5 more
europepmc +2 more sources
Serum‐Proteomic Profiling Reveals Distinct Atopic Dermatitis Severity‐Linked Signatures
Allergy, EarlyView.This study aimed to identify a set of serum biomarkers that robustly distinguish prespecified severe from mild atopic dermatitis groups. Serum proteomic profiling distinguishes severe from mild atopic dermatitis, revealing an epithelial enriched severity footprint linked to LDH‐associated tissue injury and Th2/Th22 inflammation.
Jag S. Lally +6 more
wiley +1 more source
Mepolizumab Modifies Blood Eosinophil Proteome and Transcriptome in Severe Eosinophilic Asthma
Allergy, EarlyView.This study investigates the effect of mepolizumab on the proteomic and transcriptomic profile of blood eosinophils in SEA patients. Mepolizumab reduces the migratory capacity and effector‐related molecular signatures of circulating eosinophils in SEA patients.
Pablo Miguéns‐Suárez +14 more
wiley +1 more source
Arquivos de Neuro-Psiquiatria, 1972 Quatro irmãos com moléstias de Charcot-Marie-Tooth são estudados do ponto de vista clínico e genético. São ressaltadas, mediante análise da sintomatologia, as formas de transição no grande grupo de moléstias heredodegenerativas, sendo atribuída ...
Charles Peter Tilbery +3 more
doaj
Emerging Paediatric Uses of Dupilumab Beyond Approvals
Clinical &Experimental Allergy, EarlyView.Dupilumab, through IL‐4Rα blockade, shows promising efficacy beyond approved indications in paediatric diseases driven by T2 inflammation. Emerging evidence—mainly from small studies—supports improvements in disease severity and quality of life, highlighting its potential as a targeted, steroid‐sparing therapy while underscoring the need for ...
Simone Foti Randazzese +11 more
wiley +1 more source
Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease
Clinical Genetics, EarlyView.Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler +5 more
wiley +1 more source