Results 301 to 310 of about 184,621 (397)

When the U Wave Tells the Story: Andersen–Tawil Syndrome Unmasked

Annals of Noninvasive Electrocardiology, Volume 30, Issue 6, November 2025.
Recurrent syncope in a young woman was diagnosed as Andersen‐Tawil syndrome (ATS), characterized by prominent U waves and prolonged QTU intervals. Genetic testing confirmed a KCNJ2 mutation. Tailored treatment, including medication adjustments, led to symptom improvement, emphasizing the importance of accurate diagnosis and management in ATS.
Shasha Yu, Hang Lv
wiley   +1 more source

Effect of prophylactic fibrinogen concentrate in scoliosis surgery (EFISS): a randomised pilot trial. [PDF]

BMJ Open
Hudec J, Vrbica K, Hrdy O, Galko M, Repko M, Stepanova R, Demlova R, Kubelova M, Gal R.   +8 more
europepmc   +1 more source

Measurement Screen for Leg Length and Scoliosis

, 1976
Sandra L. Jones
openalex   +1 more source

“When my mind hurts, my body hurts”: Complex PTSD and chronic physical health conditions—A qualitative study exploring the factors contributing to their relationship

British Journal of Clinical Psychology, Volume 64, Issue 4, Page 1020-1042, November 2025.
Abstract Objectives Complex PTSD (cPTSD) has a high comorbidity rate with chronic physical health conditions. This is the first qualitative study to investigate what factors might be contributing to this relationship. Methods Twelve participants with cPTSD and chronic physical health conditions were recruited from mental health services across London ...
Laura Blackett, Polly Radcliffe, Teuta Rexhepi‐Johansson, Nicola Reynolds   +3 more
wiley   +1 more source

Correlation analysis between multifidus muscle atrophy and the severity of degenerative scoliosis retrospective, cross-sectional study. [PDF]

Sci Rep
Yu J, Zhang C, Zhou Y, Wang J, Zhang Y, Wang Y.   +5 more
europepmc   +1 more source

Keeping Up With School During Hospitalization for Children With Chronic Illnesses, Siblings and Parents

Child: Care, Health and Development, Volume 51, Issue 6, November 2025.
ABSTRACT Background Children who have chronic illnesses (CIs) and their siblings often miss school when the child with a CI is hospitalized. Understanding the perspectives of the child with an illness, siblings and parents will provide information about how they keep up with schoolwork, their perceptions of not being in school, or of homeschooling that
Margaret Wazevich, Riley Justice, Nneka Bonner, Josheph Lampton, Laura Nabors   +4 more
wiley   +1 more source

A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au‐Kline Syndrome

Clinical Genetics, Volume 108, Issue 5, Page 576-581, November 2025.
Integrated genomic and epigenomic analyses, associated with functional studies, confirm the pathogenicity of a novel HNRNPK variant in Au‐Kline syndrome (AKS). Our study underscores the value of DNA methylation signatures in variant interpretation, enhancing accurate diagnosis and clinical management of rare neurodevelopmental disorders.
Maura Mingoia, Alessandra Meloni, Silvia Sedda, Sanaa Choufani, Isadora Asunis, Giorgia Gemma, Antonio Ammendola, Arteen Torabi‐Marashi, Eleonora di Venere, Gabriella Maria Squeo, Vincenzo Rallo, Maria Giuseppina Marini, Paolo Moi, Salvatore Savasta, Rosanna Weksberg, Giuseppe Merla, Andrea Angius   +16 more
wiley   +1 more source

Early Night-Time Bracing for Mild Adolescent Idiopathic Scoliosis: A Retrospective Cohort Study. [PDF]

Global Spine J
Zwingenberger S, Mersiowsky L, Ede MN, Selle A, Tian X, Pei X, Bernstein P, Seifert J, Schaser KD, Disch AC, Platz U.   +10 more
europepmc   +1 more source

Clinical and Neurodevelopmental Characteristics of Paralogous Gain‐of‐Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803

Clinical Genetics, Volume 108, Issue 5, Page 553-565, November 2025.
Key features of paralogous GRIA2 and GRIA3 gain‐of‐function variants. ABSTRACT GRIA‐related disorders arise from disease‐causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA)‐type glutamate receptors (AMPARs).
Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, Rebekka S. Dahl, Vincent Cruz, Heng Wang, Sandra Mercier, Wallid Deb, Thomas Besnard, Jennifer Friedman, Miriam Essid, Sana Karoui, Lamia Ben Jemaa, Thouraya Benyounes, Gaetan Lesca, Davide Tonduti, Maria Iascone, Simona Orcesi, Melanie Fradin, Christèle Dubourg, Silvia Napuri, Stuart G. Cull‐Candy, Ian D. Coombs, Mark Farrant, Allan Bayat   +24 more
wiley   +1 more source

Bracing for scoliosis in children with cerebral palsy-a systematic review. [PDF]

J Child Orthop
Merkelbach N, Pauw A, Van Campenhout A.
europepmc   +1 more source