The Jaundiced Baby

Hartley, Jane

doi:10.1002/9781119046936.ch8

Cited by 3 publications

(5 citation statements)

References 19 publications

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“…The reports noted above confirm the medical burden of NC and the need for proper diagnostic and treatment strategies. Even if a specific etiology for NC could not be determined, complications such as ICH can be ameliorated by starting supportive treatment as soon as possible [ 11 ]. This is illustrated by the fact that 10 infants (2.4%) in the present study presented with ICH, with a significantly higher rate among those with BA ( p = 0.007).…”

Section: Discussionmentioning

confidence: 99%

“…Many algorithms have been published to guide the diagnostic approach for NC [ 11 , 19 ]. However, none are entirely accurate for reaching a specific etiology.…”

Section: Discussionmentioning

confidence: 99%

“…Perinatal CMV hepatitis was diagnosed by positive serology and DNA with the exclusion of other etiologies of NC together with suggestive pathological features. All other etiologies were diagnosed based on the presence of specified diagnostic criteria [ 11 ].…”

Section: Methodsmentioning

confidence: 99%

“…Idiopathic neonatal hepatitis (INH) was diagnosed after excluding various infectious, metabolic, endocrine, anatomical, and genetic causes of NC [ 11 ]. The undiagnosed group was labeled as such based on: 1) no follow-up in most of these cases, 2) not completing requested investigations due to parental non-compliance or the cost of the studies, 3) early death before completing the diagnostic workup, and 4) insufficient data in the patient’s records.…”

Section: Methodsmentioning

confidence: 99%

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Variant etiologies of neonatal cholestasis and their outcome: a Middle East single-center experience

El‐Guindi

Saber

Shoeir

et al. 2021

ceh

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Section: Discussionmentioning

confidence: 99%

“…Many algorithms have been published to guide the diagnostic approach for NC [ 11 , 19 ]. However, none are entirely accurate for reaching a specific etiology.…”

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

See 2 more Smart Citations

Variant etiologies of neonatal cholestasis and their outcome: a Middle East single-center experience

El‐Guindi

Saber

Shoeir

et al. 2021

ceh

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“…PEBD indications included complaining from severe intractable pruritus, not responding to medical treatment, growth failure, and nutritional deficiencies. [ 10 ]…”

Section: Aterials and M Ethodsmentioning

confidence: 99%

Evaluation of Clinical Outcomes in Children with Intrahepatic Cholestasis Postpartial External Biliary Diversion

Nasr El-Din,

Yassin,

EL Koofy

et al. 2023

Journal of Indian Association of Pediatric Surgeons

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Background: Severe pruritus caused by progressive familial intrahepatic cholestasis (PFIC) and Alagille syndrome (AGS) is refractory to medical treatment. Surgical interruption of the enterohepatic circulation is considered the mainstay of alleviating distressing symptoms and delaying cirrhosis. Aim and Objectives: This study aims to evaluate the short-term effect of partial external biliary diversion (PEBD) on pruritus, liver disease progression, patient's growth, and quality of life. Material and Methods: This prospective cohort study enrolled children with PFIC and AGS from July 2019 to July 2021, whose guardians consented to the PEBD procedure. A standard surgical approach was performed by a single surgeon. Outcomes were measured subjectively and objectively pre- and post-procedure using the pruritus 5-D itching score, Paediatric Quality of Life Inventory scale (PedsQL), growth parameters, bile acids level, and liver function tests. Patients’ follow-up period ranged from 6 to 12 months. Results: Seven patients had PEBD procedure; five with PFIC and two with AGS. A significant improvement was detected in the 5-D itching score (p-value < 0.001), PedsQL (p-value < 0.001), and bile acids level (p-value 0.013). The preexisting growth failure was ameliorated. The downward trend in the bilirubin level was not significant. No influential difference in the other liver function tests occurred. No intra-operative complications encountered. Only one case had a post-operative stoma prolapse which was managed surgically. Conclusion: PEBD procedure could be considered as an effective and safe treatment options for intractable pruritus in patients with PFIC or AGS, providing preserved synthetic liver functions.

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Broadening the clinical spectrum of ALGS: an Egyptian cohort with five novel mutations in JAG1 gene

Khairat

El‐Karaksy

El-Bassyouni

et al. 2022

Egypt J Med Hum Genet

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Background Alagille syndrome (ALGS) is a rare autosomal dominant multisystem disorder that affects the liver, heart, eyes, vertebrae, and kidneys and is associated with characteristic facies. This work aimed to study the spectrum of the clinical features of ALGS in an Egyptian cohort of patients in conjunction with partial sequencing of the JAG1 gene. Methods This study included 17 pediatric ALGS patients diagnosed on clinical grounds: facial features, cholestatic liver disease, and cardiac, vertebral, and ocular findings. Molecular analysis was conducted in 10 selected exons of the JAG1 gene. Results The clinical features of ALGS included cholestatic liver disease (100%), facial dysmorphism (100%), cardiac abnormalities (88.2%), butterfly vertebrae (64.7%), posterior embryotoxon (35.2%), poor growth (41%), xanthomata (11.8%), and hiatus hernia (11.8%). Five novel pathogenic JAG1 mutations were identified in this study, including two nonsense mutations, one splicing mutation, one frameshift insertion, and one frameshift deletion. In two patients, the mutations were confirmed to be de novo, as the mutations could not be detected in both parents. Conclusion Five novel JAG1 pathogenic variants were identified in this study. This is the first molecular study to report pathogenic mutations in the JAG1 gene within an Egyptian cohort of children with ALGS.

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The Jaundiced Baby

Cited by 3 publications

References 19 publications

Variant etiologies of neonatal cholestasis and their outcome: a Middle East single-center experience

Variant etiologies of neonatal cholestasis and their outcome: a Middle East single-center experience

Evaluation of Clinical Outcomes in Children with Intrahepatic Cholestasis Postpartial External Biliary Diversion

Broadening the clinical spectrum of ALGS: an Egyptian cohort with five novel mutations in JAG1 gene

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