Results 71 to 80 of about 3,013 (187)

Association between joint dislocation and malignant hyperthermia

Anaesthesia Reports, Volume 13, Issue 2, July‐December 2025.
Summary Malignant hyperthermia is a potentially fatal autosomal dominant hypermetabolic pharmacogenetic syndrome resulting from altered intracellular calcium dynamics in skeletal muscle, triggered by halogenated anaesthetics and suxamethonium. Current evidence suggests a degree of association between malignant hyperthermia and joint dislocations.
A. O. Gomes, P. V. Andrade, J. M. Santos, L. S. Souza, A. S. B. Oliveira, M. Vainzof, H. C. A. Silva   +6 more
wiley   +1 more source

Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders

Acta Paediatrica, Volume 114, Issue 7, Page 1720-1730, July 2025.
ABSTRACT Aim Type II collagen, encoded by the collagen type II alpha 1 (COL2A1) gene, is crucial for the structure of cartilage. This study aims to improve our understanding of Spondyloepiphyseal Dysplasia Congenita (SEDC) caused by mutations in COL2A1. We also aim to evaluate the safety and efficacy of growth hormone (GH) therapy in two SEDC patients.
Shumin Zhan, Qin He, Jinna Yuan, Xiaoqin Xu, Ke Huang, Guanping Dong, Junfen Fu, Dingwen Wu, Wei Wu   +8 more
wiley   +1 more source

MTSS2 ‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Repair of pectus deformities : Experience and outcome in 317 cases

Annals of Saudi Medicine, 2006
Background: The most common congenital chest wall deformities are pectus excavatum and pectus carinatum. Various techniques have been described for correction of pectus deformities.
Genc Onur, Gurkok Sedat, Gozubuyuk Alper, Dakak Mehmet, Caylak Hasan, Yucel Orhan   +5 more
doaj  

Perforation of the Sigmoid Colon due to Diverticular Rupture in a Woman With FKBP14‐Related Kyphoscoliotic Ehlers‐Danlos Syndrome: A Case Report

Clinical Case Reports, Volume 13, Issue 5, May 2025.
ABSTRACT This report highlights that severe manifestations of intestinal fragility can occur in kyphoscoliotic EDS, as already described in vascular EDS.
Malika Foy, Valentin Renault, Fabrice Gillas, Philippe De Mazancourt, Robert Carlier, Gilles Manceau, Karelle Bénistan   +6 more
wiley   +1 more source

Marfan syndrome associated to pectus carinatum: a case report from cartagena de indias. Colombia

Revista Ciencias Biomédicas, 2011
Marfan syndrome (MFS) is the most common connective tissue inherited disorder,transmitted as an autosomic dominant character. Mutation is located in FBN1 allele,that encodes to Fibrilin-1.
Malambo-García Dacia I, Mora-García Gustavo J., Pomares-Estrada José C, Gómez-García Cristian (q.e.p.d.), Gómez-Camargo Doris E.   +4 more
doaj  

Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype

JIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT Biallelic variants in FARSA or FARSB are associated with reduced cytoplasmic phenylalanyl‐tRNA synthetase (FARS1) activity and underlie a multisystem syndrome characterized by growth limitation, developmental delay, brain calcifications, interstitial lung disease (ILD), and liver involvement.
Y. Aelvoet, P. Verloo, A. Vanlander, S. Vande Velde, S. Van Biervliet, P. De Bruyne, L. Hoste, A. Dheedene, L. Pottie, A. Hoorens, M. Mendes, R. De Bruyne   +11 more
wiley   +1 more source

De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling

American Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.
ABSTRACT Marfan syndrome (MFS) is a well‐characterized rare genetic connective tissue disorder. The features of MFS are primarily skeletal, ocular, and cardiovascular and are mainly caused by single‐nucleotide variants (SNVs) in the FBN1 gene (MIM#134797) located on chromosome 15q21.1.
C. Racine, P. Callier, R. Touraine, A. Vitobello, N. Hanna, P. Arnaud, G. Jondeau, C. Boileau, C. Thauvin‐Robinet, I. Creveaux, V. Gatinois, M. Willems, L. Faivre   +12 more
wiley   +1 more source

Correction of the Manubriosternal Angle: The Missing Link in the Diagnosis and Management of Anterior Chest Wall “Pectus” Deformities

Plastic and Reconstructive Surgery, Global Open
Summary:. A normal manubriosternal angle (MSA) varies between 157 and 161 degrees, and it is either increased (in pectus carinatum) or decreased (in pectus excavatum).
Reida El Oakley, FRCS, MD
doaj   +1 more source

Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13‐Year‐Old Male: A Case Report

Clinical Case Reports, Volume 13, Issue 3, March 2025.
ABSTRACT This report presents a 13‐year‐old male with abnormal body movements, generalized body weakness, and developmental regression who was further evaluated to conclude type 2 Sialidosis as the diagnosis. Genetic testing is key in diagnosing such rare conditions, and management is difficult, particularly in resource‐limited settings.
Kundan Kumar Yadav, Milan Pokhrel, Geeta Bashyal, Shankar Pokharel, Santoshi Pokharel Kunwar   +4 more
wiley   +1 more source