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NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.
Am J Med Genet A
September 2022
Department of Pediatrics, Division of Medical Genetics, Helen DeVos Children's Hospital, Spectrum Health, Grand Rapids, Michigan, USA.
Pleiotropy is defined as the phenomenon of a single gene locus influencing two or more distinct phenotypic traits. However, nicotinamide adenine dinucleotide (NAD+) deficiency through diet alone can cause multiple or single malformations in mice. Additionally, humans with decreased NAD+ production due to changes in pathway genes display similar malformations.
View Article and Find Full Text PDFCommon pathogenesis for sirenomelia, OEIS complex, limb-body wall defect, and other malformations of caudal structures.
Am J Med Genet A
May 2021
Greenwood Genetic Center, J. C. Self Research Institute of Human Genetics, Greenwood, South Carolina, USA.
Decades of clinical, pathological, and epidemiological study and the recent application of advanced microarray and gene sequencing technologies have led to an understanding of the causes and pathogenesis of most recognized patterns of malformation. Still, there remain a number of patterns of malformation whose pathogenesis has not been established. Six such patterns of malformation are sirenomelia, VACTERL association, OEIS complex, limb-body wall defect (LBWD), urorectal septum malformation (URSM) sequence, and MURCS association, all of which predominantly affect caudal structures.
View Article and Find Full Text PDFRoutine first-trimester ultrasound screening using a standardized anatomical protocol.
Am J Obstet Gynecol
April 2021
Department of Ultrasound, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China. Electronic address:
Background: First-trimester ultrasound scans were introduced to China for nearly 20 years. The ability of first-trimester ultrasound screening to detect different malformations was variable. A recent systematic review concluded that the use of a standardized anatomic protocol was the most crucial factor to improve the sensitivity of first-trimester ultrasound screening for anomalies.
View Article and Find Full Text PDFSirenomelia and severe caudal regression syndrome.
Saudi Med J
December 2014
Department of Pediatrics, Security Forces Hospital, Riyadh 11481, Kingdom of Saudi Arabia. E-mail:
Objective: To describe cases of sirenomelia and severe caudal regression syndrome (CRS), to report the prevalence of sirenomelia, and compare our findings with the literature.
Methods: Retrospective data was retrieved from the medical records of infants with the diagnosis of sirenomelia and CRS and their mothers from 1989 to 2010 (22 years) at the Security Forces Hospital, Riyadh, Saudi Arabia. A perinatologist, neonatologist, pediatric neurologist, and radiologist ascertained the diagnoses.
Retinoic acid-induced caudal regression syndrome in the mouse fetus.
Reprod Toxicol
May 1998
Department of Anatomy, Faculty of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.
Caudal regression syndrome (CRS) comprises developmental anomalies of the caudal vertebrae, neural tube, urogenital and digestive organs, and hind limbs, the precursors of all of which are derived from the caudal eminence. Although the syndrome is well recognized, the etiology and pathogenetic mechanisms are poorly understood. Genetic and experimental models may provide some important clues to the early events that precede the dysmorphogenesis in CRS.
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