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neonatal cholestasis

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https://www.readbyqxmd.com/read/29419856/-analysis-of-slc25a13-gene-mutations-in-five-infants-with-neonatal-intrahepatic-cholestasis-caused-by-citrin-deficiency
#1
Junjie Xu, Min Gao, Yuqiang Lyu, Yunping Tang, Xuxia Wei, Lu Yang, Kaihui Zhang, Yi Liu, Zhongtao Gai
OBJECTIVE To identify potential mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). METHODS The SLC25A13 gene was analyzed by next-generation sequencing. Suspected mutations were confirmed by PCR and Sanger sequencing in the probands and their parents. Impact of novel mutations was predicted with PolyPhen-2 software. RESULTS All neonates have harbored mutations of the SLC25A13 gene. Eight mutations were discovered, which included two novel mutations (c.1357A>G and c...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29415837/parenteral-nutrition-associated-cholestasis-and-triglyceridemia-in-surgical-term-and-near-term-neonates-a-pilot-randomized-controlled-trial-of-two-mixed-intravenous-lipid-emulsions
#2
Luís Pereira-da-Silva, Sara Nóbrega, Maria Luísa Rosa, Marta Alves, Ana Pita, Daniel Virella, Ana Luísa Papoila, Micaela Serelha, Gonçalo Cordeiro-Ferreira, Berthold Koletzko
BACKGROUND: Cholestasis is a common complication in infants receiving prolonged parenteral nutrition (PN). We studied the effects of two intravenous lipid emulsions composed with either 30% soybean oil, 30% medium-chain triglycerides (MCT), 25% olive oil, and 15% fish oil (SMOF) or with 50% MCT and 50% soybean oil n-6 (MCT/SOY) on the incidence of cholestasis in surgical term and near-term neonates. METHODS: A single-center, double-blinded, randomized controlled trial compared the incidence of cholestasis using either SMOF or MCT/SOY in neonates born at gestational age ≥34 weeks undergoing major surgery...
December 2017: Clinical Nutrition ESPEN
https://www.readbyqxmd.com/read/29406331/reduced-immunohistochemical-expression-of-hnf1%C3%AE-and-foxa2-in-liver-tissue-can-discriminate-between-biliary-atresia-and-other-causes-of-neonatal-cholestasis
#3
Usama F Shaalan, Noha L Ibrahim, Nermine A Ehsan, Mervat M Sultan, Ghada M Naser, Mohamed O Abd El-Fatah
Biliary atresia (BA) is a necroinflammatory occlusive cholangiopathy that affects infants. Genetic and environmental factors has been proposed for its occurrence. The objectives of this study was to investigate the protein expression of 2 important genes regulating ductal plate remodeling, hepatocyte nuclear factor 1-beta (Hnf1β) and the fork head box protein A2 (FoxA2) in liver tissue from patients with BA and to compare their expression with other causes of neonatal cholestasis (NC). This retrospective study included 60 pediatric patients, 30 with BA and 30 with NC...
February 5, 2018: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/29397405/early-differential-diagnosis-methods-of-biliary-atresia-a-meta-analysis
#4
REVIEW
Li Wang, Yuan Yang, Yang Chen, Jianghua Zhan
PURPOSE: To evaluate the accuracy of early differential diagnosis methods of biliary atresia in patients with infantile cholestasis. METHODS: We searched PubMed, EMBASE and the Web of Science databases for articles evaluated the early differential diagnosis methods of biliary atresia. The methodological quality of each study was assessed with version 2 of the Quality Assessment of Diagnostic Accuracy Studies tool. Two reviewers extracted data independently. Pooled sensitivity, specificity, positive likelihood ratio (LR +), negative likelihood ratio (LR -), diagnostic odds ratio (DOR) with 95% CIs were calculated to assess each diagnosis method...
February 3, 2018: Pediatric Surgery International
https://www.readbyqxmd.com/read/29389827/detection-of-cytomegalovirus-in-liver-tissue-by-pcr-in-infants-with-neonatal-cholestasis
#5
Akshat Goel, Sneha Chaudhari, Jyoti Sutar, Gauri Bhonde, Sushmita Bhatnagar, Vainav Patel, Vikrant Bhor, Ira Shah
AIM: Cytomegalovirus (CMV) is associated with neonatal cholestasis (NC). Diagnosis of CMV infection is most often based upon either positive blood CMV IgM or CMV blood PCR. Isolation of CMV in liver tissues in patients with NC has rarely been reported. This study was undertaken to see if CMV is present in liver tissues of patients with NC and evaluate the correlation between positive CMV PCR in liver tissue with the serology and blood PCR. METHODS: This study was conducted in 31 infants with NC from June 2015-Dec 2016...
January 31, 2018: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/29388792/transcription-factor-gata6-a-novel-marker-and-putative-inducer-of-ductal-metaplasia-in-biliary-atresia
#6
Tea Soini, Marjut Pihlajoki, Noora Andersson, Jouko Lohi, Kari A Huppert, David A Rudnick, Stacey S Huppert, David B Wilson, Mikko P Pakarinen, Markku Heikinheimo
Biliary atresia (BA), a neonatal liver disease, is characterized by obstruction of extrahepatic bile ducts with subsequent cholestasis, inflammation, and progressive liver fibrosis. To gain insights into the pathophysiology of BA, we focused attention on GATA6, a transcription factor implicated in biliary development. Early in fetal development GATA6 expression is evident in cholangiocytes and hepatocytes, but by late gestation it is extinguished in hepatocytes. Utilizing a unique set of BA liver samples collected before and after successful portoenterostomy (PE), we found that GATA6 expression is markedly upregulated in hepatocytes of patients with BA compared to healthy and cholestatic disease controls...
February 1, 2018: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/29350689/safety-of-intravitreal-injection-of-ranibizumab-in-early-pregnancy-a-series-of-three-cases
#7
P Fossum, C Couret, B Briend, M Weber, L Lagarce
PurposeRanibizumab is used in the treatment of choroidal neovascularization (CNV). Although systemic exposure to ranibizumab is low after ocular administration, its mechanism of action must be regarded as potentially teratogenic and embryo-fetotoxic. Women are advised to wait 3 months after the last dose of treatment with ranibizumab before conceiving. Little is known about the fetal side-effects of this drug.MethodsThree pregnant women were treated with ranibizumab. One patient had idiopathic CNV.ResultsAfter receiving injections at 10 and 21 weeks after her last menstrual period (LMP), she gave birth to a healthy child...
January 19, 2018: Eye
https://www.readbyqxmd.com/read/29250459/intrahepatic-cholestasis-of-pregnancy-refractory-to-multiple-medical-therapies-and-plasmapheresis
#8
Adam John Covach, William Nicholas Rose
Objectives  We report on a patient suffering from intractable itching secondary to intrahepatic cholestasis of pregnancy (ICP) unresponsive to conventional medical therapies. She was started on a regimen of therapeutic plasma exchange (TPE), which is often efficacious in relieving patient's itching from all causes of cholestasis, including ICP. Methods  We performed a retrospective review of a patient's medical record. Results  Following initial TPE, the patient reported dramatic relief of her itching and consequent insomnia...
October 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/29178522/direct-hyperbilirubinemia-in-infants-with-congenital-heart-disease
#9
Jun Fujishiro, Masahiko Sugiyama, Tetsuya Ishimaru, Miho Watanabe, Kaori Sato, Noriko Hoshino, Chizue Uotani, Mai Kutsukake, Yoichiro Hirata, Akira Oka
BACKGROUND: The association between congenital heart disease (CHD) and infantile cholestasis, a key finding for the diagnosis of biliary atresia (BA), has not been previously investigated. The aim of this study was therefore to investigate the characteristics of direct hyperbilirubinemia (D-HB) in infants with CHD. METHODS: All neonates admitted to the present hospital and diagnosed with CHD in 2015 and 2016 were included. D-HB (direct bilirubin ≥ 2.0 mg/dL) at ≤60 days of age and other clinical parameters were retrospectively reviewed...
November 27, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29176025/a-newborn-with-combined-pituitary-hormone-deficiency-developing-shock-and-sludge
#10
Yasuhiro Ueda, Hayato Aoyagi, Toshihiro Tajima
A male neonate was born at 41 weeks of gestation with a birth weight of 3320 g. Artificial respiratory management was required due to respiratory disturbance 1 h after birth, and subsequently catecholamine-refractory low cardiac output-induced shock occurred. Severe combined pituitary hormone deficiency (CPHD) was considered based on the presence of his respiratory disturbance, hypoglycemia and micropenis. After hydrocortisone (HDC) administration, circulatory dynamics rapidly improved. Brain magnetic resonance imaging (MRI) showed aplasia of the anterior pituitary gland and ectopic posterior gland...
November 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29152073/molecular-diagnosis-of-citrin-deficiency-in-an-infant-with-intrahepatic-cholestasis-identification-of-a-21-7kb-gross-deletion-that-completely-silences-the-transcriptional-and-translational-expression-of-the-affected-slc25a13-allele
#11
Zhan-Hui Zhang, Wei-Xia Lin, Qi-Qi Zheng, Li Guo, Yuan-Zong Song
Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) arises from biallelic SLC25A13 mutations, and SLC25A13 analysis provides reliable evidences for NICCD definite diagnosis. However, novel large insertions/deletions in this gene could not be detected just by conventional DNA analysis. This study aimed to explore definite diagnostic evidences for an infant highly-suspected to have NICCD. Prevalent mutation screening and Sanger sequencing of SLC25A13 gene just revealed a paternally-inherited mutation c...
October 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/29146216/-nisch-syndrome-a-rare-cause-of-neonatal-cholestasis-a-case-report
#12
S Szepetowski, C Lacoste, S Mallet, B Roquelaure, C Badens, A Fabre
NISCH syndrome is a rare autosomal recessive disease. It is characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and neonatal sclerosing cholangitis. It is caused by mutations in the CLDN1 gene encoding the claudin-1 protein, which is located at tight junctions. Fifteen cases have been reported to date and three different mutations have been identified. We report on the case of a 2-year-old boy from a consanguineous Moroccan family, presenting with NISCH syndrome and carrying the so-called Moroccan homozygous mutation (c...
November 13, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29144406/evaluating-differences-in-aluminum-exposure-through-parenteral-nutrition-in-neonatal-morbidities
#13
Megan Fortenberry, Lela Hernandez, Jacob Morton
Aluminum is a common contaminant in many components of parenteral nutrition, especially calcium and phosphate additives. Although long-term effects have been described in the literature, short-term effects are not well-known. Currently, the Food and Drug Administration recommends maintaining aluminum at <5 mcg/kg/day. This was a single center, retrospective case-control study of 102 neonatal intensive care unit patients. Patients were included if they had a diagnosis of necrotizing enterocolitis, rickets/osteopenia, or seizures and received at least 14 days of parenteral nutrition...
November 16, 2017: Nutrients
https://www.readbyqxmd.com/read/29137101/analysis-of-islet-beta-cell-functions-and-their-correlations-with-liver-dysfunction-in-patients-with-neonatal-intrahepatic-cholestasis-caused-by-citrin-deficiency-niccd
#14
Chun-Ting Lu, Jing Yang, Si-Min Huang, Lie Feng, Ze-Jian Li
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) primarily manifests in neonates or infants with hepatomegaly, liver dysfunction, and hypoglycemia. This study investigated the functions of islet beta cells and their correlations with liver dysfunction in NICCD patients.We retrospectively analyzed clinical data on liver function and islet beta cell functions for 36 patients diagnosed with NICCD and 50 subjects as the control group. The NICCD group had significantly higher total bilirubin (TBIL), direct bilirubin (DBIL), alanine aminotransferase (ALT), aspartate amino transferase (AST), gamma-glutamyl transpeptidase (GGT), alkaline phosphatase (ALP) and alpha-fetoprotein (AFP) levels and albumin/globulin ratio (A/G) (P < ...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29120457/management-of-neonatal-spontaneous-intestinal-perforation-by-peritoneal-needle-aspiration
#15
M Gébus, J-L Michel, S Samperiz, L Harper, J-L Alessandri, D Ramful
OBJECTIVE: To describe conservative management of spontaneous intestinal perforation (SIP) in preterm infants using peritoneal needle aspiration (PNA). STUDY DESIGN: Monocentric retrospective review of SIP cases treated primarily by PNA between 1999 and 2015 (n=31). RESULTS: Mean gestational age was 29.2±2.4 weeks and birthweight 1149±428 g. SIP occurred at 3.7±2.2 days of life. PNA achieved definitive treatment in 18 patients (60%) with a mean of 1...
November 9, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29098121/using-zebrafish-to-model-liver-diseases-where-do-we-stand
#16
Duc-Hung Pham, Changwen Zhang, Chunyue Yin
Purpose of Review: The liver is the largest internal organ and performs both exocrine and endocrine function that is necessary for survival. Liver failure is among the leading causes of death and represents a major global health burden. Liver transplantation is the only effective treatment for end-stage liver diseases. Animal models advance our understanding of liver disease etiology and hold promise for the development of alternative therapies. Zebrafish has become an increasingly popular system for modeling liver diseases and complements the rodent models...
June 2017: Current Pathobiology Reports
https://www.readbyqxmd.com/read/29080241/next-generation-sequencing-in-pediatric-hepatology-and-liver-transplantation
#17
REVIEW
Emanuele Nicastro, Lorenzo D'Antiga
Next Generation Sequencing (NGS) has revolutionized the analysis of human genetic variations, offering a highly cost-effective way to diagnose monogenic diseases (MDs). Since nearly half of children with chronic liver disorders have a genetic cause and approximately 20% of pediatric liver transplants are performed in children with MDs, NGS offers the opportunity to significantly improve the diagnostic yield in this field. Among the NGS strategies, the use of targeted gene panels has proven useful to rapidly and reliably confirm a clinical suspicion, whereas the whole exome sequencing (WES) with variants filtering has been adopted to assist the diagnostic work up in unclear clinical scenarios...
October 28, 2017: Liver Transplantation
https://www.readbyqxmd.com/read/29039163/-screening-for-amino-acid-metabolic-disorders-of-newborns-in-zhejiang-province-prevalence-outcome-and-follow-up
#18
Xinwen Huang, Yu Zhang, Fang Hong, Jing Zheng, Jianbin Yang, Fan Tong, Huaqing Mao, Xiaolei Huang, Xuelian Zhou, Rulai Yang, Zhengyan Zhao
OBJECTIVE: To analyze the result and follow-up data of screening for newborn amino acid metabolic disorders in Zhejiang province. METHODS: A total of 1 861 262 newborns were screened for amino acid metabolic disorders during January 2009 and December 2016 in Zhejiang province. The screening results and the follow-up data were analyzed retrospectively. RESULTS: One hundred and sixty four cases were diagnosed as amino acid metabolic disorders with a prevalence of 1:11 349, including 83 with hyperphenylalaninaemia (1:22 400), 29 with neonatal intrahepatic cholestasis caused by citrin deficiency (1:64 138), 16 with methionine S-adenosyltransferase deficiency (1:116 250), 9 with maple syrup urine disease (1:206 667), 8 with argininemia (1:232 500), 7 with citrullinemia type Ⅰ (1:265 700), 6 with hyperprolinemia type Ⅰ (1:310 000), and 2 with carbamylphosphate synthetase Ⅰ deficiency(1:930 000)...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29026274/a-case-of-an-infant-with-congenital-combined-pituitary-hormone-deficiency-and-normalized-liver-histology-of-infantile-cholestasis-after-hormone-replacement-therapy
#19
Keisuke Wada, Hironori Kobayashi, Aisa Moriyama, Yasuhiro Haneda, Yuichi Mushimoto, Yuki Hasegawa, Kazumichi Onigata, Koji Kumori, Noriyoshi Ishikawa, Riruke Maruyama, Tsuyoshi Sogo, Lynne Murphy, Takeshi Taketani
Congenital combined pituitary hormone deficiency (CPHD) may present with cholestasis in the neonate or during early infancy. However, its precise mechanism is unknown. A 3-mo-old boy presented with cryptorchidism and hypoplastic scrotum after birth. Neonatal jaundice was noted but temporarily improved with phototherapy. Jaundice recurred at 2 mo of age. Elevated direct bilirubin (D-Bil) and liver dysfunction were found but cholangiography showed no signs of biliary atresia (BA). Liver biopsy findings showed giant cell formation of hepatocytes with hypoplastic bile ducts...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29020816/predictors-of-adverse-perinatal-outcomes-in-intrahepatic-cholestasis-of-pregnancy-with-dichorionic-diamniotic-twin-pregnancies
#20
Youwen Mei, Lan Gao, Yonghong Lin, Dan Luo, Xine Zhou, Li He
OBJECTIVE: The aim of our study was to investigate the predictors of adverse perinatal outcomes in intrahepatic cholestasis of pregnancy (ICP) with dichorionic diamniotic (DCDA) twin pregnancies. METHODS: This study was a retrospective study of women diagnosed with ICP and DCDA twin pregnancies in Chengdu's women and children's central hospital. These patients were subdivided into mild and severe ICP groups according to total bile acid (TBA) level. The clinical characteristics and perinatal outcomes were collected and compared between the two groups...
October 11, 2017: Journal of Maternal-fetal & Neonatal Medicine
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