Results 71 to 80 of about 2,766 (141)

Ventricular Topology in Congenital Heart Defects Associated with Heterotaxy: Can We Find Patterns Reflecting the Syndrome-Specific Tendency for Visceral Symmetry?

Journal of Cardiovascular Development and Disease
Heterotaxy syndrome is characterized by a tendency for bilaterally symmetric arrangement (isomerism) of inner organs. It is frequently associated with complex congenital heart defects (CHDs).
Takhfif Othman, Abdulsalam Mohammad Adnan Alsaiad, Abdulraouf M. Z. Jijeh, Jörg Männer, Talat Mesud Yelbuz   +4 more
doaj   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia

Journal of Allergy and Clinical Immunology: Global
The case presented highlights a unique presentation of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome along with athymia and heterotaxy to establish a possible association between ...
Rica Patil, DO, Jacquelyn Hunter, MD, Alan Knutsen, MD, Stephen R. Braddock, MD   +3 more
doaj   +1 more source

A combination of modified Kuhnt–Szymanowski and Celsus–Hotz techniques for correction of entropion and overlong lower eyelids in dogs (40 eyes)

Veterinary Ophthalmology, Volume 28, Issue 2, Page 114-123, March 2025.
Abstract Purpose To describe a surgical approach to correct entropion and overlong lower eyelids in dogs by combining the Celsus–Hotz with the modified Kuhnt–Szymanowski technique. Methods Medical records of patients undergoing the described surgical procedure were reviewed.
Hanna Walter, Teresa Bilotta, Catarina Goncalves, Claudia Busse   +3 more
wiley   +1 more source

Left atrial isomerism associated with aneurysmal enlargement of right atrial appendage: A case report with literature review

Indian Journal of Radiology and Imaging, 2019
We present a prenatally diagnosed case of heterotaxy syndrome (HS) in which left atrial isomerism (LAI) was associated with an aneurysmal enlargement of the right atrial appendage (RAA).
Prateek Agarwal, Rajesh Kumar Agarwal
doaj   +1 more source

The use of a “horizontal centrifugation protocol” to prepare autologous platelet‐rich fibrin membranes for corneal reconstruction surgery in dogs with complicated corneal ulcerations: A case series

Veterinary Ophthalmology, Volume 28, Issue 2, Page 175-189, March 2025.
Abstract Objective The purpose of this case series was to describe the effect of autologous PRF membrane for corneal reconstruction surgery in dogs. PRF membranes made from two healthy dogs unrelated to the current case series were used for PRF histologic analyses. Animals Seven dogs with complicated corneal ulcerations. Procedure A complete ophthalmic
Louise Baadsgaard Bruun, Tommy A. Waskiw Hardon, Anne K. Havnsøe Krogh, Klaus Qvortup, Steffen Heegaard, Annemarie Thuri Kristensen, Michala de Linde Henriksen   +6 more
wiley   +1 more source

Reconstruction of deep and perforating corneal defects in dogs—A review (Part I/III): Autogenous ocular tissues, donor tissues, and corneal clarity scoring

Veterinary Ophthalmology, Volume 28, Issue 2, Page 519-531, March 2025.
Abstract Corneal reconstruction is a key part of veterinary ophthalmic practice and numerous reconstructive techniques have been described for use in small animals in the peer‐reviewed veterinary literature written in English. Despite the evidence accrued over the last six decades in over 40 clinical articles and numerous other publications on ocular ...
Rick F. Sanchez, Eric C. Ledbetter, Marta Leiva   +2 more
wiley   +1 more source

Technologies for engineering repetitive DNA

Quantitative Biology, Volume 14, Issue 3, September 2026.
Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
wiley   +1 more source

Quantitative Control of Transposable Elements: From Genome Plasticity to Immune Regulatory Circuits

Cell Biochemistry and Function, Volume 44, Issue 7, July 2026.
ABSTRACT Transposable elements (TEs) constitute nearly half of the human genome and are increasingly recognized as context‐dependent regulators of genome function rather than passive repetitive DNA. This Review synthesizes classical and recent evidence on TE biology, including TE classification, mechanisms of mobilization, host restriction pathways ...
Irving Jesús Reyes‐Barragán
wiley   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum of MED13L‐Associated Neurodevelopmental Disorder: A Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Here we report a novel de novo duplication of exons 8–16 of the MED13L gene in a patient with MED13L syndrome, presenting with an unreported phenotype: cleft lip. A review of previously reported patients with MED13L copy number variants is also conducted to refine genotype–phenotype correlations.
Zhongqing Wang, Xin Chen, Ziyun Cui, Xinyue Qi, Li Gu, Yi Liu, Wenjing Zhao, Yan Jiang   +7 more
wiley   +1 more source