Results 61 to 70 of about 8,141 (357)

Thoracic duct drainage patterns in heterotaxy

Journal of Cardiovascular Magnetic Resonance
Background: Disordered lymphatic drainage is common in congenital heart diseases (CHD), but thoracic duct (TD) drainage patterns in heterotaxy have not been described in detail.
Daniel A. Castellanos, Emily M. Bucholz, Katherine Bai, Jesse J. Esch, David Hoganson, Stephen P. Sanders, Raja Shaikh, Sunil J. Ghelani, David N. Schidlow   +8 more
doaj   +1 more source

Chronic Cough, Dyspnea, and a Novel CCDC39 Variant: A Case Report of Heterotaxy Syndrome Without Cardiac Anomalies and Associated Primary Ciliary Dyskinesia. [PDF]

Cureus
Heterotaxy syndrome is characterized by abnormal left-right arrangement of thoracoabdominal organs and is frequently associated with complex cardiac anomalies. However, cases with predominant extracardiac manifestations are increasingly recognized.
Juré J, Alexander P.
europepmc   +2 more sources

A Rare Variation of the Heterotaxy Syndrome

Case Reports in Medicine, 2012
Heterotaxy syndrome is a rare, complex, and confusing type of the situs anomalies. It is not possible to estimate the degree of lateralization, isomerism, and rotational variation in these types of cases.
Alper Dilli, Salih Sinan Gultekin, Umit Yasar Ayaz, Hatice Kaplanoglu, Baki Hekimoglu   +4 more
doaj   +1 more source

The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5 [PDF]

, 2016
G protein-coupled receptor kinase 5 (GRK5) is a regulator of cardiac performance and a potential therapeutic target in heart failure in the adult. Additionally, we have previously classified GRK5 as a determinant of left-right asymmetry and proper heart ...
Bauer, Ulrike M. M., Burkhalter, Martin D., Hitz, Marc-Phillip, Kubisch, Christian, Lessel, Davor, Moepps, Barbara, Muhammad, Tariq, Philipp, Melanie, Rentzsch, Axel, Schalinski, Adelheid, Schubert, Stephan, Tena, Teresa Casar, Toka, Okan, Ware, Stephanie M.   +13 more
core   +2 more sources

Heterotaxy Polysplenia Syndrome Causing Intermittent Vomiting Due to Malrotation of the Duodenum in an Adult

Haseki Tıp Bülteni, 2019
Heterotaxy syndrome (situs ambiguus) is a rare condition in which the internal organs are abnormally arranged in the chest and abdomen. It occurs from an early embryological developmental disturbance with most cases being sporadic.
Tuba Selçuk Can, Behice Kaniye Yılmaz, Yıldıray Savaş   +2 more
doaj   +1 more source

Some Isolated Cardiac Malformations Can Be Related to Laterality Defects

Journal of Cardiovascular Development and Disease, 2018
Human beings are characterized by a left–right asymmetric arrangement of their internal organs, and the heart is the first organ to break symmetry in the developing embryo.
Paolo Versacci, Flaminia Pugnaloni, Maria Cristina Digilio, Carolina Putotto, Marta Unolt, Giulio Calcagni, Anwar Baban, Bruno Marino   +7 more
doaj   +1 more source

A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling

Molecular Genetics & Genomic Medicine, 2020
Background Isomerism or heterotaxy syndrome is the loss of normal asymmetry of the internal thoraco‐abdominal organs in the left‐right axis and is associated with cardiovascular malformations.
Amirpouyan Namavarian, Anas Eid, Elaine Suk‐Ying Goh, Varsha Thakur   +3 more
doaj   +1 more source

A multi-disciplinary, comprehensive approach to management of children with heterotaxy

Orphanet Journal of Rare Diseases, 2022
Heterotaxy (HTX) is a rare condition of abnormal thoraco-abdominal organ arrangement across the left–right axis of the body. The pathogenesis of HTX includes a derangement of the complex signaling at the left–right organizer early in embryogenesis ...
Thomas G. Saba, G. Geddes, S. Ware, D. Schidlow, P. D. del Nido, Nathan S. Rubalcava, Samir K. Gadepalli, T. Stillwell, A. Griffiths, L. B. Bennett Murphy, A. Barber, M. Leigh, Necia Sabin, A. Shapiro   +13 more
semanticscholar   +1 more source

The Caenorhabditis elegans DPF‐3 and human DPP4 have tripeptidyl peptidase activity

FEBS Letters, EarlyView.
The dipeptidyl peptidase IV (DPPIV) family comprises serine proteases classically defined by their ability to remove dipeptides from the N‐termini of substrates, a feature that gave the family its name. Here, we report the discovery of a previously unrecognized tripeptidyl peptidase activity in DPPIV family members from two different species.
Aditya Trivedi, Rajani Kanth Gudipati
wiley   +1 more source

The newfound relationship between extrachromosomal DNAs and excised signal circles

FEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source