Results 21 to 30 of about 341 (88)

Congenital Cholestatic Syndromes: What Happens When Children Grow Up?

open access: yesCanadian Journal of Gastroenterology and Hepatology, Volume 21, Issue 11, Page 743-751, 2007., 2007
Although advances in the management of children with congenital cholestasis have enabled many to survive into adulthood with their native livers, even the most common of these conditions remains rare in adult hepatology practice. Among four congenital cholestatic syndromes (biliary atresia, Alagille syndrome, Caroli disease and congenital hepatic ...
Simon C Ling
wiley   +1 more source

First‐Generation Inequalities, Adaptation, and Resilience

open access: yesSociological Forum, Volume 40, Issue 4, Page 465-480, December 2025.
ABSTRACT First‐generation college students face systemic barriers to persistence, including lower campus engagement, delayed graduation, and higher departure rates compared to their continuing‐generation peers. While these disadvantages are well documented, less is known about how first‐generation students adapt to institutional contexts laden with ...
Erick Axxe   +3 more
wiley   +1 more source

The role of the co‐chaperone DNAJB11 in polycystic kidney disease: Molecular mechanisms and cellular origin of cyst formation

open access: yesThe FASEB Journal, Volume 38, Issue 21, 15 November 2024.
Biallelic loss of Dnajb11 causes cystic kidney disease and fibrosis in mice, resembling human disease characteristics of this atypical form of autosomal dominant polycystic kidney disease. Cysts form predominantly in proximal tubules. Impaired GPS cleavage of Polycystin‐1 (PC1) in Dnajb11‐deficient cells represents a potential mechanism underlying cyst
Tilman Busch   +12 more
wiley   +1 more source

Updated EUROCAT guidelines for classification of cases with congenital anomalies

open access: yesBirth Defects Research, Volume 116, Issue 2, February 2024.
Abstract Background Precise and correct classification of congenital anomalies is important in epidemiological studies, not only to classify according to etiology but also to group similar congenital anomalies together, to create homogeneous subgroups for surveillance and research.
Jorieke E. H. Bergman   +7 more
wiley   +1 more source

Genetic etiologies and diagnostic methods for congenital ventriculomegaly and hydrocephalus: A scoping review

open access: yesBirth Defects Research, Volume 116, Issue 1, January 2024.
Abstract Background Congenital hydrocephalus (CH) is a life‐threatening neurological condition that results from an imbalance in production, flow, or absorption of cerebrospinal fluid. Predicted outcomes from in utero diagnosis are frequently unclear. Moreover, conventional treatments consisting primarily of antenatal and postnatal surgeries are often ...
Caroline Aragón   +5 more
wiley   +1 more source

Polysplenia Syndrome With Persistent Left Superior Vena Cava: Case Report and Review of the Literature. [PDF]

open access: yesGlob Pediatr Health, 2022
Salma EH   +5 more
europepmc   +1 more source

Unravelling the complexity of heterotaxy syndrome. [PDF]

open access: yesBMJ Case Rep, 2023
Bilamge A   +3 more
europepmc   +1 more source

A case of isomerism with infracardiac total abnormal pulmonary venous connection: demonstration of extracardiac venous anomalies by CT angiography

open access: yesTürk Kardiyoloji Derneği Arşivi, 2014
Göksel Açar   +4 more
doaj   +1 more source

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