Results 21 to 30 of about 4,538 (283)

Heterotaxy

, 2019
Abstract This chapter reviews background information about the incidence, risk factors, genetics, family history, recurrence risk, and epidemiology of heterotaxy and disorders of situs, including polysplenia and asplenia. The relationship between heterotaxy and dysfunction of non-motile primary cilia is explained.
Rohit S. Loomba, David L.S. Morales, Andrew Redington   +2 more
  +4 more sources

Heterotaxy

Journal of Marine Medical Society, 2022
Heterotaxy syndrome is an uncommon disease, with an incidence ranging from 1 in 6000 to 1 in 20,000 live births.[1] This syndrome is characterized by major cardiac vascular malformations, congenital asplenia, polysplenia, and abnormal arrangement of the chest and abdominal organs.
openaire   +1 more source

Recovery of cyanosis after esophageal intubation in a neonate with tracheal agenesis: a case report

The Turkish Journal of Pediatrics, 2022
Background. Tracheal agenesis (TA) is a rare congenital defect that consists of a complete or partial absence of the trachea below the larynx, with or without tracheoesophageal fistula (TEF).
Hasan Tolga Çelik, Mustafa Şenol Akın, Davut Bozkaya, Emel Şule Yalçın, Ahmet Emre Süslü, Mithat Haliloğlu, Kadri Şafak Güçer, Murat Yurdakök   +7 more
doaj   +1 more source

Heterotaxy is not a risk factor for adverse long-term outcomes after Fontan completion

, 2020
Background: Heterotaxy is considered a risk factor for poor outcomes after the Fontan operation. However, long-term data to support this notion are lacking. The aims of this study were to ascertain the long-term outcomes of patients with heterotaxy after
Celermajer, David S., d'Udekem, Yves, du Plessis, Karin, Ayer, Julian, Zannino, Diana, Cao, Jacob Y., Alphonso, Nelson, Sholler, Gary F., Marathe, Shilpa S., Winlaw, David S., Marathe, Supreet P., Gentles, Thomas L., Justo, Robert N., https://orcid.org/   +13 more
core   +1 more source

Molecular Genetic Analysis of \u3ci\u3eCRELD1\u3c/i\u3e in Patients with Heterotaxy Disorder [PDF]

, 2011
Heterotaxy refers to the abnormal arrangement of internal organs in relation to each other. Model organism studies have shown that functions of more than eighty genes are required for normal asymmetric left-right organ development.
Zhian, Samaneh
core   +1 more source

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

, 2015
Heterotaxy results from a failure to establish normal left-right asymmetry early in embryonic development. By whole-exome sequencing, whole-genome sequencing and high-throughput cohort resequencing, we identified recessive mutations in MMP21 (encoding ...
Lo, Cecilia, Jean-François Deleuze, Murray, Stephen, Patrick Nitschké, Baker, Candice, Kingsmore, Stephen, Emily G Farrow, Kevin A Peterson, Hui Liu, Molly Schwartz, Gabriel, George, Noll, Aaron, Bonnet, Damien, Miller, Neil A, Stephen A Murray, de Pontual, Loic, Nitschké, Patrick, Anne Guimier, Liu, Hui, Aaron Noll, Bajolle, Fanny, Nikolai T Klena, Cecilia W Lo, Patrice Bouvagnet, Farrow, Emily, Tsang, Michael, Laurie D Smith, Miller, Neil, Klena, Nikolai, Schoen, Patric, Hisato Yagi, Saunders, Carol, Anne Moreau de Bellaing, Saunders, Carol J, Jimenez, Gina, El Malti, Rajae, Loic de Pontual, Yagi, Hisato, Linda D Cooley, Stephen F Kingsmore, Murray, Stephen A, Peterson, Kevin A, Masson, Cécile, Fanny Bajolle, Gina Jimenez, Peterson, Kevin, Farrow, Emily G, Oufadem, Myriam, Stanislas Lyonnet, Schwartz, Molly, Damien Bonnet, Cooley, Linda, Smith, Laurie D, Deleuze, Jean-François, Cooley, Linda D, Gabriel, George C, Gordon, Christopher T, Carol J Saunders, Bole-Feysot, Christine, Thiffault, Isabelle, Smith, Laurie, Myriam Oufadem, Lo, Cecilia W, Lyonnet, Stanislas, Michael Tsang, Neil A Miller, Guimier, Anne, Di Filippo, Sylvie, Christine Bole-Feysot, Baker, Candice N, Moreau de Bellaing, Anne, Gordon, Christopher, Jeanne Amiel, Candice N Baker, Rajae El Malti, Sylvie Di Filippo, Kingsmore, Stephen F, Cécile Masson, Isabelle Thiffault, Amiel, Jeanne, George C Gabriel, Bouvagnet, Patrice, Patric Schoen, Klena, Nikolai T, Christopher T Gordon   +84 more
core   +2 more sources

Heterotaxy Syndrome: Discordant Growth [PDF]

Cureus, 2021
Heterotaxy syndrome implies a discordance between placement of thoracic organs with respect to abdominal organs. A large number of these have associated congenital heart defects. This syndrome is unique as every patient is different and can have any permutation and combination of symptoms.
Yadav, Pratiksha, Ajmera, Pranav, Krishnamurthy, Sruthi, Nandivada, Nikhil B   +3 more
openaire   +2 more sources

Left-Sided Heart Defects and Laterality Disturbance in Hypoplastic Left Heart Syndrome

Journal of Cardiovascular Development and Disease, 2023
Hypoplastic left heart syndrome (HLHS) is a complex congenital heart disease characterized by hypoplasia of left-sided heart structures. The developmental basis for restriction of defects to the left side of the heart in HLHS remains unexplained.
Hisato Yagi, Cecilia W. Lo
doaj   +1 more source

Histopathological assessment of laterality defects in zebrafish development

Animal Cells and Systems, 2021
Laterality defects during embryonic development underlie the aetiology of various clinical symptoms of neuropathological and cardiovascular disorders; however, experimental approaches to understand the underlying mechanisms are limited due to the complex
Md. Ashraf Uddin Chowdhury, Ahmed A. Raslan, Eunhye Lee, Juneyong Eum, Byung Joon Hwang, Seung-Hae Kwon, Yun Kee   +6 more
doaj   +1 more source

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects

, 2016
Genomic disorders and rare copy number abnormalities are identified in 15–25% of patients with syndromic conditions, but their prevalence in individuals with isolated birth defects is less clear.
Rao, Mitchell, Belmont, John W., Smolarek, Teresa A., Tariq, Muhammad, Ware, Stephanie M., Lalani, Seema R., Shaw, Chad, Cowan, Jason R.   +7 more
core   +1 more source