Results 31 to 40 of about 17,137 (206)

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy   +15 more
wiley   +1 more source

Non-traumatic left-sided diaphragmatic hernia causing volvulus in an adult

open access: yesRadiology Case Reports, 2023
Diaphragmatic hernias can be classified into congenital and acquired types. Most cases of congenital diaphragmatic hernia present early in life with respiratory distress while acquired diaphragmatic hernia usually presents following a history of trauma ...
Ahmed T. Abdelhamid, MBChB
doaj  

Late-presenting congenital diaphragmatic hernia in a child with gastric perforation and acute pancreatitis

open access: yesThe Turkish Journal of Pediatrics, 2023
Background. Late-presenting congenital diaphragmatic hernia occurs beyond the neonatal period, and is relatively rare, presenting with nonspecific respiratory and gastrointestinal symptoms. Case.
Qing Li, Caixia Liu
doaj   +1 more source

Expert Strategies: Skull Base Reconstruction—Global Perspectives, Insights, and Algorithms through a Mixed Methods Approach

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective There is limited consensus on endoscopic skull base surgery (ESBS) reconstruction principles. This study aims to generate comprehensive themes regarding ESBS reconstruction by pooling the experiences of ESBS experts, with comparison to a literature review of current published evidence.
Edward C. Kuan   +77 more
wiley   +1 more source

Congenital intrapericardial diaphragmatic hernia presenting radiologically as massive cardiomegaly

open access: yesAfrican Journal of Paediatric Surgery, 2013
Intrapericardial diaphragmatic hernia is uncommon condition in which abdominal content herniate into the pericardium. It is mostly of traumatic origin, sometimes it is congenital.
Wilson E Sadoh, Stanley U Okugbo
doaj   +1 more source

Introducing Novel Surgical Clinical Correlations Into an Undergraduate Medical Anatomy Course

open access: yesClinical Anatomy, EarlyView.
ABSTRACT Anatomy education is a hallmark of many preclinical medical school curricula, but students are often unable to identify the clinical relevance of anatomy and its applications. Vertical curricula that integrate clinical concepts into the preclinical basic science years and vice versa have been shown to benefit student learning and increase ...
Liam McLoughlin   +5 more
wiley   +1 more source

A novel congenital diaphragmatic hernia prediction model for Chinese subjects: A multicenter cohort investigation

open access: yesHeliyon, 2023
Purpose of the study: Brindle et al. (2014) and the Congenital Diaphragmatic Hernia Study Group constructed a simplified clinical prediction rule (Brindle score) to stratify infants with congenital diaphragmatic hernia based on disease severity. We aimed
Wen Ding, Huiying Wu
doaj  

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

open access: yesJournal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi   +13 more
wiley   +1 more source

Magnetic Resonance Imaging in the Clinical Evaluation of Lung Disorders: Current Status and Future Prospects

open access: yesJournal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT The low proton density and high signal decay rate of pulmonary tissue have previously hampered the application of magnetic resonance imaging (MRI) in the clinical evaluation of lung disorders. With the continuing technical advances in scanners, coils, pulse sequences, and image postprocessing, pulmonary MRI can provide structural and ...
Linyu Wu   +7 more
wiley   +1 more source

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES) for genetic diagnosis.
Yan Lü   +18 more
wiley   +1 more source

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