Results 191 to 200 of about 103,828 (259)

Thoracoabdominal duplication accompanied by intestinal malrotation: a case report and literature review of a rare congenital anomaly in an infant. [PDF]

Ann Med Surg (Lond)
Mashlah Q, Al Laham O, Odah Bashi H, Sharaf Aldeen R, Alashi S, Abdulkader M.   +5 more
europepmc   +1 more source

Does Early Laser Treatment of Capillary Malformations Lead to More Favorable Outcomes?

The Laryngoscope, EarlyView.
Larkin Harris, Reema Padia
wiley   +1 more source

Medicare Utilization and Reimbursement Trends for Free Flaps in Otolaryngology, Plastic Surgery, and Maxillofacial Surgery

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Free flap procedures are important components of reconstructive surgery in otolaryngology, plastic surgery, and maxillofacial surgery. This research investigates trends in utilization, charges, and Medicare reimbursements for free flap procedures performed across these specialties.
Kyle Polen, Alan Napole, Gavin Turner, Robert M. Brody, Ryan M. Carey   +4 more
wiley   +1 more source

Single dominant right coronary artery with hypoplastic left coronary branch: a rare congenital anomaly: a case report. [PDF]

Eur Heart J Case Rep
Hamidani F, Berisha B.
europepmc   +1 more source

Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome

The Journal of Pathology, EarlyView.
Abstract MYO7A is a causal gene, underlying Usher syndrome type 1B (USH1B) and both autosomal recessive (DFNB2) and dominant (DFNA11) non‐syndromic hearing loss. Despite the large number of reported MYO7A variants (over 2,200), variants located in an extended splice region remain difficult to interpret and are often classified as variants of uncertain ...
Tao Shi, Yu Huang, Xiaohuan Su, Lisheng Yu, Yixin Zhao, Jing Cheng   +5 more
wiley   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Congenital Anomaly Diagnosis of Typical Cardiac Chest Pain Due to Thebesian Veins Draining Into the Left Ventricular Chamber: A Case Report and Review of Literature. [PDF]

Cureus
Mohammed F, Ali Khan Z, Mohammed M, Foley J, Abdul-Waheed M, Akbar M, Kazimuddin M.   +6 more
europepmc   +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, EarlyView.
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

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Thoracic Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aims to identify the imaging findings specifically for thoracic anomalies in 1200 Micro‐CT cases, independent of whether the abnormality contributed to the main diagnosis or cause of death. Method We analyzed 1200 Micro‐CT scans in an unselected, consecutive cohort between 2017 and 2024 to identify thoracic anomalies ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source