Results 121 to 130 of about 27,308 (243)

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1091-1097, May 2026.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Hypermobility [PDF]

Annals of the Rheumatic Diseases, 1997
openaire   +2 more sources

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1021-1035, May 2026.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Obturator Dislocations Following Direct Anterior Approach Total Hip Arthroplasty: Two Case Reports With Analysis of Implant and Spinopelvic Factors

Clinical Case Reports, Volume 14, Issue 5, May 2026.
Obturator dislocation following direct anterior approach total hip arthroplasty. Multiple converging factors contributed to instability: loss of offset due to cup medialisation, stem retroversion resulting in low combined anteversion, and postoperative increase in hip flexion, despite the absence of classic spinopelvic risk factors.
Briac Peynet, Florence Aim, Guillaume Auberger, Alois Bouy, Thomas Aubert   +4 more
wiley   +1 more source

Early Post–cesarean Section Gangrenous Ileocecal Volvulus in a Primigravida: A Rare Postpartum Complication Case Report

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Cecal volvulus is a rare cause of intestinal obstruction, especially in the postpartum period. It occurs when the cecum, terminal ileum, and ascending right colon twist around an axis, which leads to obstruction, ischemia, and possible gangrene.
Anteneh Girma Mengistu, Nathanael Elias Temesgen, Selamawit Kassahun Aweke, Natnael Mathewos Assale, Bemnet Ashenafi Kebede   +4 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Hindfoot Valgus and First Ray Insufficiency: Is There Correlation?

Surgeries
The first metatarsal has the greatest inclination of all metatarsals and carries about 40% of body weight during the static stance. The rearfoot and the first ray (FR) are two distinct structures, but they are strongly related to the latest studies in ...
Gabriele Colò, Federico Fusini, Daniele Marcolli, Massimiliano Leigheb, Michele Francesco Surace   +4 more
doaj   +1 more source

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1427-1430, June 2026.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, -Not available-.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

A Clinical Practice Update for the Management of Patients With Disorders of Gut‐Brain Interaction and Altered Food Intake Behavior

Neurogastroenterology &Motility, Volume 38, Issue 5, May 2026.
ABSTRACT Background Disorders of Gut‐Brain Interaction (DGBI) impact as many as one in three individuals at some stage of their lives. Clinically, patients with DGBI may present with meal‐related symptoms that progressively lead to altered food intake behaviors, resulting in subsequent weight loss and nutritional deficiencies.
Ayesha Shah, Nicholas J. Talley, Simon R. Knowles, Kerith Duncanson, Natasha Koloski, Jason P. Connor, Andrew S. Day, Basil Almehdawy, Chamara Basnayake, Rebecca Burgell, Sharon Carey, Charles Cock, Charlotte Daker, Vishal Kaushik, Dan Kent, Trina Kellar, Katherine Lane, Neal Martin, Allison Malcolm, Kate Elizabeth Murphy, Gemma Sharp, Caroline Tuck, Michael Jones, Nikhil Thapar, Gerald Holtmann   +24 more
wiley   +1 more source