Results 61 to 70 of about 2,833 (190)

Malrotation and volvulus associated with heterotaxy syndrome

Journal of Indian Association of Pediatric Surgeons, 2012
A 2-year-old boy with heterotaxy syndrome with associated polysplenia, ventricular septal defect, and malrotation of gut with volvulus is presented. There was delay in diagnosis due to the unusual plain abdominal radiography findings.
Santosh K Mahalik, Sanat Khanna, Prema Menon   +2 more
doaj   +1 more source

Complaints Involving Sonographers: What Three Decades of Cases From A Public New Zealand Database Can Teach Us

Journal of Medical Radiation Sciences, EarlyView.
Health consumer complaints to the New Zealand Health and Disability Commissioner involving sonographers are rare, totalling 15 in the last 31 years and averaging 1.5 cases per year over the last decade. A large proportion of complaints involve an undetected finding, obstetric examination and private setting.
Martin Necas, Claire Calver, Alex Hill, Danielle Mourits, Sarah Park, Carla Smith   +5 more
wiley   +1 more source

A breviloquent description about the challenges involved and the management strategies for the complex cardiac abnormality — Ivemark syndrome

Journal of Rare Diseases
Ivemark syndrome, a classification of heterotaxy syndrome, is an extremely uncommon congenital condition. An aberrant configuration of the thoracoabdominal organs across the body’s left–right axis is known as heterotaxy, and it is always linked to either
Pooja C., Sankari A., Sashtipriyaa R., Mariyam Susan Joji, Sarumathy S.   +4 more
doaj   +1 more source

The impacts of energy and protein provision on anthropometric changes in infants with critical congenital heart disease

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Malnutrition in patients with critical congenital heart disease (CCHD) is associated with worse outcomes, however, feeding challenges, and changes in metabolic demands obscure the relationship between nutrient intake and growth in this patient population.
Colin R. Tang‐Whitmore, Cydney Coleman, Brittany Faanes, Laura Gearman, Brian F. Joy, Stacie Knutson, Benjamin W. Langworthy, Katie M. Pfister, Catherine Larson‐Nath   +8 more
wiley   +1 more source

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

Chemical diversity and phylogenetic insights into Hawaiian ʻākia (Wikstroemia) species used in traditional fishing practices

PLANTS, PEOPLE, PLANET, EarlyView.
Traditional fishing with plant‐based piscicides is a global practice in decline, facing increasing restrictions. We investigated the chemical diversity of endemic Wikstroemia species historically used to stun or poison fish in Hawaiʻi. Using 1‐H‐NMR, principal component analysis, targeted HPLC, and target‐capture sequencing, we characterized compounds ...
Louise Winther, Isaac Lichter‐Marck, Louise Kjaerulff, David Lorence, Uma Nagendra, Mike Opgenorth, Sverre J. Schou, Kenneth R. Wood, Felipe Zapata, Dan Staerk, Nina Rønsted   +10 more
wiley   +1 more source

A Han-Chinese Fetus With Heterotaxy Syndrome Caused by Novel Compound Heterozygous Mutations in PKD1L1: A Case Report

Clinical and Experimental Obstetrics & Gynecology
Background: Heterotaxy syndrome is characterized by abnormal organ arrangement across the left-right (L-R) axis, often leading to complex congenital heart defects (CHDs).
Xinyuan Teng, Jiayao Zhao, Jiayu Shen, Jin Yao, Liangfang Tang, Jingwei Xu, Yi Chen, Liquan Wang   +7 more
doaj   +1 more source

Diving Deeper Into Mechanisms of Acrylamide‐Induced Toxicity: RNA Sequencing Reveals Transcriptomic Alteration and Retrotransposon Expression in Drosophila melanogaster

Environmental Toxicology, EarlyView.
ABSTRACT Given the inevitability of human and animal exposure to acrylamide, there is increasing concern regarding its potential health risks. While a number of molecular mechanisms have been proposed, the complexity of acrylamide toxicological pathways and interactions remains incompletely characterized.
Oluwabukola Mary Farodoye, Titilayomi Ayomide Otenaike, Daniela Moreira Mombach, Monica Medeiros Silva, Amos Olalekan Abolaji, Elgion Lucio Da Silva Loreto   +5 more
wiley   +1 more source

Polysplenia syndrome with situs ambiguous, common mesentery, and IVC interruption discovered incidentally in an adult

Radiology Case Reports, 2019
Polysplenia syndrome associates multiple spleens to other malformations, most frequently cardiac, vascular, visceral, and biliary malformations. Polysplenia has been described mainly in childhood owing to critical anatomic malformations related to ...
Hajar El Mortaji, Kenza Elatiqi, Hanane El Hammaoui, Soumaya Alj   +3 more
doaj   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source