Results 1 to 10 of about 10,374 (172)
Neonatal cholestasis as the onset symptom of McCune–Albright syndrome: case reports and a literature review [PDF]
Frontiers in Pediatrics, 2023 AimThis study aimed to summarize and show the characteristics and evolutionary process of neonatal cholestasis caused by McCune–Albright syndrome (MAS), as neonatal cholestasis may be the initial manifestation of MAS before other classic clinical ...
Xinbao Xie
exaly +4 more sources
Clinical characteristics of neonatal cholestasis in a tertiary hospital and the development of a novel prediction model for mortality [PDF]
EBioMedicine, 2022 Summary: Background: Few studies have described the aetiologies of neonatal cholestasis, and the overall neonatal cholestasis-related mortality (NCM) rate is unclear.
Eun Joo Lee, Jung Ok Shim, Kyung Mo Kim
exaly +4 more sources
Neonatal Cholestasis: A Pandora’s Box [PDF]
Clinical Medicine Insights Pediatrics, 2018 Neonatal cholestasis (NC) is a diagnostic dilemma frequently countered in a neonatal care unit. Early diagnosis is vital for achieving an optimal patient outcome as many causes of cholestasis such as biliary atresia are time-sensitive and amenable to treatment if analyzed and treated early. Nonetheless, it is not generally simple to analyze these cases
Aakash Pandita, Girish Gupta
exaly +5 more sources
Rolling stones: an instructive case of neonatal cholestasis [PDF]
BMC Pediatrics, 2022 Background Jaundice within the first 1–2 weeks of a neonate’s life will generally self-resolve; however, if it lasts longer than this time frame it warrants further work up.
Paige Killelea +4 more
doaj +2 more sources
A Patient with neonatal cholestasis. [PDF]
J Mother Child, 2021 The patient, a boy born in 1991, showed pronounced polyostotic fibrous dysplasia due to McCune-Albright syndrome, as well as Gilbert syndrome and Charcot-Marie-Tooth neuropathy caused by a DNM2 mutation. In addition, the patient, his sister, mother and maternal grandfather had intermittently increased plasma arginine and lysine levels, most probably ...
Claeys KG +8 more
europepmc +3 more sources
Severe neonatal cholestasis in HNF1β deficiency: a case report and literature review [PDF]
Frontiers in PediatricsNeonatal cholestasis can be caused by several conditions, with biliary atresia being the major cause. Genetic and endocrinological etiologies represent other possibilities, with most of them requiring a rapid diagnosis and a specific treatment.
Chiara Gagliano +8 more
doaj +2 more sources
Neonatal Cholestasis: A Rare and Unusual Presentation of Pituitary Stalk Interruption Syndrome [PDF]
Case Reports in Endocrinology, 2021 Pituitary stalk interruption syndrome (PSIS) is a very rare entity, and the clinical manifestations are nonspecific. Neonatal cholestasis due to endocrine disorders is rare and poorly recognized.
R. El Qadiry +4 more
doaj +2 more sources
Niemann-Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel [PDF]
The Korean Journal of Gastroenterology, 2021 Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder caused by mutations in the NPC1 and NPC2 genes. These mutations cause the accumulation of unesterified cholesterol and other lipids in the lysosomes.
Sun Woo Park +5 more
doaj +2 more sources
Jornal de Pediatria, 2000 OBJECTIVE: To warn pediatricians about the early recognition of cholestasis in newborns and infants. METHODS: A bibliographic research about cholestasis was performed using Medline, and emphasizing the most relevant publications of the last 30 years. RESULTS: The concept of cholestasis and the causes of cholestatic tendency in newborns and infants are ...
F M, Karrer, D D, Bensard
+6 more sources
Beta Thalassemia Presenting with Neonatal Cholestasis and Extensive Hemosiderosis: A Case Report [PDF]
Neonatal Medicine, 2023 Neonatal cholestasis is caused by various forms of liver injury and has a complex etiological background. Among these, cases of severe cholestasis due to primary hemolytic disease are rare.
Chung Gang Jung +2 more
doaj +1 more source