Results 71 to 80 of about 4,442 (232)

Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach [PDF]

, 2015
Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1%-5% of all live births. Although the genetic contribution to CVMs is well recognized, the genetic causes of human CVMs are identified infrequently.
Bleyl, Steven B., Border, William L., Bowles, Neil E., Garg, Vidu, Hinton, Robert B., Lalani, Seema R., McBride, Kim L., Smolarek, Teresa A., Ware, Stephanie M.   +8 more
core   +2 more sources

Most costly and prevalent reasons for hospitalization in children with medical complexity in Ontario, Canada

Journal of Hospital Medicine, EarlyView.
Abstract Background and Objectives Children with medical complexity (CMC) have chronic health conditions often associated with functional limitations. CMC comprise 1%–5% of the pediatric population. In Canada, their care accounts for one‐third of pediatric health spending.
Erin Hessey, Thaksha Thavam, Sanjay Mahant, Eyal Cohen, Jingqin Zhu, Francine Buchanan, Teresa To, Peter J. Gill, Ontario Pediatric Hospital Care Study Group (OPHCSG) and the Canadian Paediatric Inpatient Research Network (PIRN), Wenjia Chen, Ronald Cohn, Mairead Green, Matt Hall, Kate Langrish, Colin Macarthur, Myla Moretti, Patricia Parkin, Michelle Quinlan, Ann Bayliss, Ronik Kanani, Sean Murray, Catherine Pound, Mahmoud Sakran, Anupam Sehgal, Sepi Taheri, Gita Wahi   +25 more
wiley   +1 more source

PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia [PDF]

, 2016
Symptoms of primary ciliary dyskinesia (PCD) are nonspecific and guidance on whom to refer for testing is limited. Diagnostic tests for PCD are highly specialised, requiring expensive equipment and experienced PCD scientists. This study aims to develop a
Behan, Laura, Carroll, Mary, Dimitrov, Borislav D., Evans, Hazel J., Goutaki, Myrofora, Harris, Amanda, Hogg, Claire, Kuehni, Claudia E., Lucas, Jane S., Packham, Samantha, Walker, Woolf T.   +10 more
core   +1 more source

Heterotaxy Syndrome and Intestinal Rotation Abnormalities [PDF]

Pediatrics, 2018
BACKGROUND: Infants with heterotaxy syndrome (HS) have abnormal lateralization of organs along the right-left body axis. Intestinal rotation abnormalities (IRAs) are a potential source of morbidity and mortality. For this study, our objective was to prospectively observe a cohort of infants with HS and determine the
Lindsay M, Ryerson, Scott, Pharis, Charissa, Pockett, Reeni, Soni, Deborah, Fruitman, Kristine J, Guleserian, Melissa, Nater, Stephen C, Raynor, Andrew S, Mackie, Bryan, Dicken   +9 more
openaire   +2 more sources

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

From multiple spleens to absence: Insights from two cases of heterotaxy syndromes

Radiology Case Reports
Heterotaxy syndrome is a rare congenital disorder characterized by abnormal arrangement of the thoracic and abdominal organs and is classified into polysplenia (left isomerism) and asplenia (right isomerism) syndromes.
Suman Paudel, MD, Rishi Ram Banjade, MBBS, Niraj Kumar Sharma, MD, Sharmila Ghimire, MD, Prerana Singh Rokaha, MBBS   +4 more
doaj   +1 more source

The inferior caval vein draining into the left atrial cavity : a rare case [PDF]

, 2011
The inferior vena cava (IVC) draining into the left atrium (LA) is exceedingly rare in the setting of the usual atrial arrangement (situs solitus).
McCarthy, Karen, Shiina, Y., Slavik, S., Uemura, H., Yen Ho, S.   +4 more
core  

Extrahepatic Anomalies in Infants With Biliary Atresia: Results of a Large Prospective North American Multicenter Study [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/100275/1/hep26512 ...
Bezerra, Jorge A, Bove, Kevin, Haber, Barbara H, Karpen, Saul J, Kerkar, Nanda, Mack, Cara L, Magee, John C, Molleston, Jean P, Moore, Jeffrey, Murray, Karen F, Network, Childhood Liver Disease Research and Education, Ng, Vicky L, Romero, René, Rosenthal, Philip, Schwarz, Kathleen B, Shneider, Benjamin L, Sokol, Ronald J, Turmelle, Yumirle P, Wang, Kasper S, Whitington, Peter F   +19 more
core   +2 more sources

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

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