Results 51 to 60 of about 8,530 (370)
Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome [PDF]
, 2019 Biliary atresia (BA) is the most common cause of end‐stage liver disease in children and the primary indication for pediatric liver transplantation, yet underlying etiologies remain unknown.
Alonso, Estella M +33 more
core +2 more sources
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
Annals of Pediatric Cardiology, 2022 Pulmonary arteriovenous malformations after the Kawashima procedure causing severe hypoxemia are treated by Fontan surgery that redirects hepatic venous blood to the pulmonary circulation.
Kothandam Sivakumar
doaj +1 more source
Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry [PDF]
, 2016 The establishment of left–right (L-R) asymmetry in vertebrates is dependent on the sensory and motile functions of cilia during embryogenesis. Mutations in CCDC11 disrupt L-R asymmetry and cause congenital heart disease in humans, yet the molecular and ...
Betleja, Ewelina +8 more
core +2 more sources
Scientific Reports, 2023 The establishment of left–right patterning in mice occurs at a transient structure called the embryonic node or left–right organizer (LRO). Previous analysis of the LRO has proven challenging due to the small cell number and transient nature of this ...
Helen M Bellchambers +6 more
semanticscholar +1 more source
, 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.
Robin D. Clark, Cynthia J. Curry
+4 more sources
CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes [PDF]
, 2015 CHD is frequently associated with a genetic syndrome. These syndromes often present specific cardiovascular and non-cardiovascular co-morbidities that confer significant peri-operative risks affecting multiple organ systems.
Cooper, David S. +2 more
core +1 more source
Characterization of ultrasound and postnatal pathology in fetuses with heterotaxy syndrome
Frontiers in Cardiovascular Medicine, 2023 Background To explore the diagnostic clues and abnormality spectrum of heterotaxy syndrome by prenatal ultrasonography and postnatal verification. Methods The prenatal ultrasonic data of 88 heterotaxy syndrome fetuses were analyzed retrospectively as ...
Qiumei Wu +10 more
semanticscholar +1 more source
Palliation of a Heterotaxy Single Ventricle Neonate with Pulmonary Atresia and Obstructed TAPVR
Pediatric Cardiology, 2023 Patients born with obstructed total anomalous pulmonary venous return have a high risk of morbidity and mortality in the neonatal period, which only increases when combined with single ventricle physiology and non-cardiac congenital anomalies such as ...
Justin A. Robinson +4 more
semanticscholar +1 more source
Biventricular Repair in Heterotaxy Patients [PDF]
World Journal for Pediatric & Congenital Heart Surgery, 2015 exaly +3 more sources