Results 81 to 90 of about 78,947 (237)

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

open access: yesMovement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino   +23 more
wiley   +1 more source

Sex Differences in Congenital Aural Atresia: A Systematic Review and Meta‐Analysis

open access: yesOtolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To evaluate sex differences in the diagnosis and management of congenital aural atresia (CAA). Data Sources PubMed, SCOPUS, CINAHL, Cochrane Library. Review Methods A comprehensive literature search was conducted from inception through January 2026.
Angelica M. Walker   +4 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo   +4 more
wiley   +1 more source

Periodontitis and atherosclerotic cardiovascular disease: A critical appraisal

open access: yesPeriodontology 2000, EarlyView., 2023
Abstract In spite of intensive research efforts driving spectacular advances in terms of prevention and treatments, cardiovascular diseases (CVDs) remain a leading health burden, accounting for 32% of all deaths (World Health Organization. “Cardiovascular Diseases (CVDs).” WHO, February 1, 2017, https://www.who.int/news‐room/fact‐sheets/detail ...
Maria Clotilde Carra   +3 more
wiley   +1 more source

Class Ruptures and Openings: The Role of Social and Family History in Narratives on Class Mobility and Reproduction

open access: yesThe British Journal of Sociology, EarlyView.
ABSTRACT In recent years, sociological interest in the study of social class—particularly its subjective dimensions—has intensified. This article contributes to this growing body of literature by focusing on Poland as a case within the Central and Eastern European region.
Justyna Kajta, Stefan Bieńkowski
wiley   +1 more source

Alcohol consumption and cognitive function: A systematic review and dose–response meta‐analysis of 20 cohort studies

open access: yesAddiction, EarlyView.
Abstract Background and aims Amid ongoing debate on whether low‐to‐moderate alcohol consumption reduces cardiovascular risk, studies examining the association between alcohol consumption and cognitive function have reported inconsistent results. To quantitatively assess this association, we conducted a dose–response meta‐analysis of cohort studies ...
Sooyeun Choi, Youjin Je
wiley   +1 more source

Poland Syndrome: A Case Report.

open access: yesAlbanian Journal of Trauma and Emergency Surgery
Background: Poland syndrome is a rare congenital anomaly characterized by unilateral absence or hypoplasia of the pectoralis major muscle, often associated with ipsilateral thoracic and upper-limb abnormalities.
Edvin Selmani   +4 more
doaj   +1 more source

International Guideline on the Diagnosis and Management of Pediatric Patients With Hereditary Angioedema

open access: yesAllergy, EarlyView.
ABSTRACT Hereditary angioedema (HAE) with C1 inhibitor deficiency is a rare disease characterized by unpredictable episodes of tissue swelling (angioedema), which, in most cases, occur first under the age of 18 years, and entail a significant burden of disease not only for the patients but also for their families.
Henriette Farkas   +128 more
wiley   +1 more source

Poland Syndrome

open access: yesNew England Journal of Medicine, 2018
Kelsey R, Kennedy, Apphia L, Wang
openaire   +3 more sources

The International Guideline for the Definition, Classification, Diagnosis and Management of Urticaria

open access: yesAllergy, EarlyView.
ABSTRACT This update and revision of the international guideline for urticaria was developed in accordance with the methods recommended by Cochrane and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) working group. It is an initiative of the Global Allergy and Asthma Excellence Network (GA2LEN) and its Urticaria and ...
T. Zuberbier   +221 more
wiley   +1 more source

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