Results 131 to 140 of about 123,532 (341)

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

open access: yesBritish Journal of Clinical Psychology, EarlyView.
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   +3 more
wiley   +1 more source

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

open access: yesClinical Genetics, EarlyView.
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut   +7 more
wiley   +1 more source

Treatment of mature/maturing AIS patients (Sanders ≥ 5) using a novel anterior scoliosis correction (ASC) Technique

open access: yesBrain and Spine, 2021
Christopher Antonacci   +7 more
doaj  

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

open access: yesClinical Genetics, EarlyView.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl   +15 more
wiley   +1 more source

Screening for Adolescent Idiopathic Scoliosis: US Preventive Services Task Force Recommendation Statement

open access: yesJournal of the American Medical Association (JAMA), 2018
D. Grossman   +15 more
semanticscholar   +1 more source

Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency

open access: yesClinical Genetics, EarlyView.
We report three people from two unrelated families with a clinical diagnosis of thoracic dystrophy characterized by short or missing ribs, narrow chest, and respiratory insufficiency. Affected people each have rare, biallelic, predicted deleterious missense substitutions in FGF4, a gene known to be essential for the formation of the thoracic skeleton ...
Laura M. Watts   +8 more
wiley   +1 more source

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