Results 71 to 80 of about 5,330 (203)

The evolving therapeutic landscape of spinal muscular atrophy – A scoping review of investigational agents, emerging delivery technologies and strategic innovations

British Journal of Clinical Pharmacology, EarlyView.
Spinal muscular atrophy (SMA) is a severe neuromuscular disease with emerging therapeutic complexity. This review aims to systematically map the global pipeline of investigational treatments for SMA. Using ClinicalTrials.gov and complementary international registries, we identified 21 planned or ongoing interventional trials from 2020 to 2025 targeting
Andrej Belančić, Patrick Eustaquio, Elvira Meni Maria Gkrinia, Ivana Stević, Eugen Javor, Yun Wah Lam, Slobodan Janković, Dinko Vitezić   +7 more
wiley   +1 more source

Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. [PDF]

, 2013
Classic Ehlers-Danlos syndrome (cEDS) is a rare autosomal dominant connective tissue disorder that is primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility.
Calzavara Pinton P., Chiarelli N., Colombi M., Dordoni C., Garavelli L., Manfredini E., Quinzani S., Ritelli M., Traversa M., Vascellaro A., Venturini M., Wischmeijer A., Zoppi N.   +12 more
core   +1 more source

Periodontitis treatment and microbiome in a patient with FAM20A mutation: Case study of 1.5 years

Clinical Advances in Periodontics, EarlyView.
Abstract Background Enamel‐renal‐gingival syndrome (ERGS) is an autosomal recessive disorder caused by mutations in the FAMily with sequence similarity 20A (FAM20A) gene, and is characterized by amelogenesis imperfecta, delayed or failed tooth eruption, and periodontitis.
John Rong Hao Tay, Preethi Balan, Chaminda Jayampath Seneviratne   +2 more
wiley   +1 more source

Bone Density in Children with Hypermobility Spectrum Disorder Compared to Children with Benign Hypermobility

Journal of Comprehensive Pediatrics
Background: Hypermobility spectrum disorder (HSD), likely a multifactorial condition characterized by musculoskeletal pain, joint instability, and reduced bone mineral density (BMD), is the focus of this study. Objectives: The aim of this study was to assess and compare bone density in children diagnosed with HSD and those with benign hypermobility ...
Sahar Barzamini, Khosro Rahmani, Reza Shiari, Vadood Javadi Parvaneh, Mehrnoush Hassas Yeganeh   +4 more
openaire   +1 more source

Children and adolescents with disorders of gut–brain interaction with comorbid hypermobility and orthostatic intolerance have worse outcomes

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Disorders of gut–brain interaction (DGBI) affect about 40% of children and are often comorbid with hypermobility spectrum disorders (HSDs) and orthostatic intolerance (OI). However, how these comorbidities impact outcomes in pediatric DGBI is not well understood.
Neha Santucci, Austin VonAxelson, Jesse Li, Kahleb Graham, Jennifer Hardy, Megan Miller, Rashmi Sahay   +6 more
wiley   +1 more source

The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation

BMC Medical Genetics, 2020
Background Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and severe skin hyperextensibility ...
Xiaolin Ni, Chenxi Jin, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Weibo Xia   +6 more
doaj   +1 more source

Long COVID and hypermobility spectrum disorders have shared pathophysiology

Frontiers in Neurology
Hypermobility spectrum disorders (HSD) and hypermobile Ehlers–Danlos syndrome (hEDS) are the most common joint hypermobility conditions encountered by physicians, with hypermobile and classical EDS accounting for >90% of all cases. Hypermobility has been detected in up to 30–57% of patients with myalgic encephalomyelitis/chronic fatigue syndrome
Ravindra Ganesh, Bala Munipalli
openaire   +3 more sources

International Practice Variation in Post‐Tonsillectomy Hemorrhage: A Survey Study of Pediatric Otolaryngologists

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Background A significant complication of pediatric tonsillectomy is post‐tonsillectomy bleeding (PTB). Management within and outside of the operating room (OR) is not standardized. We consolidated international similarities and differences in PTB management.
Gina M. Spencer, Claire A. Wilson, Jacob Davidson, Julie E. Strychowsky, Claire M. Lawlor, Hannah Burns, Eishaan K. Bhargava, James Fowler, M. Elise Graham   +8 more
wiley   +1 more source

Electromyographic Assessment of Sleep Bruxism in Patients With Periodontitis: A Case–Control Study

Oral Diseases, EarlyView.
ABSTRACT Objective The relationship between periodontitis and bruxism has always been a matter of debate. The aim of the present paper is to investigate the association between advanced stages of periodontitis (Stage III/IV) and the intensity and duration of sleep bruxism events, measured as bruxism work index (BWI) and bruxism time index (BTI) through
Tommaso Gotti, Isabella De Rubertis, Ovidiu Ionut Saracutu, Marco Ferrari, Nicola Discepoli, Daniele Manfredini   +5 more
wiley   +1 more source

Multi‐exon COL5A1 deletion in a child with classical Ehlers–Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism

Clinical Case Reports, 2022
Classical Ehlers–Danlos syndrome (cEDS) is a rare inherited autosomal dominant connective tissue disorder with core clinical features including skin hyperextensibility, abnormal scarring, and generalized joint hypermobility.
Sonja Strang‐Karlsson, Sylvia Keigwin, Anna‐Kaisa Anttonen, Duncan Baker, Kerry Bean, Eveliina Jakkula   +5 more
doaj   +1 more source