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neonatal cholestasis

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https://www.readbyqxmd.com/read/29178522/direct-hyperbilirubinemia-in-infants-with-congenital-heart-disease
#1
Jun Fujishiro, Masahiko Sugiyama, Tetsuya Ishimaru, Miho Watanabe, Kaori Sato, Noriko Hoshino, Chizue Uotani, Mai Kutsukake, Yoichiro Hirata, Akira Oka
BACKGROUND: An association between congenital heart disease (CHD) and infantile cholestasis, a key finding for the diagnosis of biliary atresia (BA), remains unknown. The aim of this study was to investigate the characteristics of direct hyperbilirubinemia (D-HB) in infants with CHD. METHODS: All neonates who were admitted to our hospital and diagnosed with CHD in 2015 and 2016 were included. D-HB (direct bilirubin≧ 2.0 mg/dL) within 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28987776/bile-acid-profiles-in-neonatal-intrahepatic-cholestasis-caused-by-citrin-deficiency
#13
Ching-Hsuan Yang, Chiung-Yu Chen, Yen-Yin Chou, Hung-Chih Chiu, Wei-Lun Tsai, Shu-Chu Shiesh
BACKGROUND: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is characterized by conjugated hyperbilirubinemia and increased plasma bile acid concentrations. However, the underlying mechanisms remain unclear. We established a liquid chromatography tandem mass spectrometry (LC-MS/MS) method for simultaneously quantifying plasma bile acids and examined bile acid profiles in NICCD infants. METHODS: We measured 15 bile acids within 15min and found a wide linear range for individual bile acids...
October 4, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28981931/-mutational-analysis-of-ass1-asl-and-slc25a13-genes-in-six-chinese-patients-with-citrullinemia
#14
Yiming Lin, Ke Yu, Lufeng Li, Zhenzhu Zheng, Weihua Lin, Qingliu Fu
OBJECTIVE: To detect potential mutations in six patients with citrullinemia. METHODS: Genomic DNA was extracted from peripheral blood samples from the patients. Mutations of the ASS1, ASL and SLC25A13 genes were screened using microarray genotyping combined with direct sequencing. RESULTS: One patient was diagnosed with argininosuccinate lyase deficiency, and has carried a homozygous c.1311T>G (p.Y437*) mutation of the ASL gene. The remaining five patients were diagnosed with neonatal intrahepatic cholestasis due to citrin deficiency, and have respectively carried mutations of the SLC25A13 gene including [c...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28951965/niemann-pick-disease-type-c-in-the-newborn-period-a-single-center-experience
#15
Ersin Gumus, Goknur Haliloglu, Asuman Nur Karhan, Hulya Demir, Figen Gurakan, Meral Topcu, Aysel Yuce
Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder with a great variation in clinical spectrum and age at presentation. Clinical features of 10 NPC patients who presented in the newborn period between 1993 and 2015 at our center were retrospectively analyzed. Males and females were equally distributed; there was a history of parental consanguinity (n = 8) and first-degree relative with NPC (n = 3). Patients were symptomatic between 1 and 10 days (mean 3.6 ± 2.6 days). Age at diagnosis was between 1 and 30 days (mean 14...
December 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28937538/severe-neonatal-cholestasis-in-cerebrotendinous-xanthomatosis-genetics-immunostaining-mass-spectrometry
#16
Jing-Yu Gong, Kenneth D R Setchell, Jing Zhao, Wujuan Zhang, Brian Wolfe, Yi Lu, Karolin Lackner, A S Knisely, Neng-Li Wang, Chen-Zhi Hao, Mei-Hong Zhang, Jian-She Wang
OBJECTIVES: Cerebrotendinous xanthomatosis (CTX) is caused by defects in sterol 27-hydroxylase (CYP27A1, encoded by CYP27A1), a key enzyme in the bile acid synthesis pathway. CTX usually presents as neurologic disease in adults or older children. The rare reports of CTX manifest as neonatal cholestasis assess the cholestasis as transient, with patient survival. Our experience differs. METHODS: Homozygous or compound heterozygous CYP27A1 mutations were detected in 8 neonatal cholestasis patients by whole exome sequencing, panel sequencing, or Sanger sequencing...
November 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28934223/ursodeoxycholic-acid-prevents-ventricular-conduction-slowing-and-arrhythmia-by-restoring-t-type-calcium-current-in-fetuses-during-cholestasis
#17
Oladipupo Adeyemi, Anita Alvarez-Laviada, Francisca Schultz, Effendi Ibrahim, Michael Trauner, Catherine Williamson, Alexey V Glukhov, Julia Gorelik
BACKGROUND: Increased maternal serum bile acid concentrations in intrahepatic cholestasis of pregnancy (ICP) are associated with fetal cardiac arrhythmias. Ursodeoxycholic acid (UDCA) has been shown to demonstrate anti-arrhythmic properties via preventing ICP-associated cardiac conduction slowing and development of reentrant arrhythmias, although the cellular mechanism is still being elucidated. METHODS: High-resolution fluorescent optical mapping of electrical activity and electrocardiogram measurements were used to characterize effects of UDCA on one-day-old neonatal and adult female Langendorff-perfused rat hearts...
2017: PloS One
https://www.readbyqxmd.com/read/28933123/-meta-analysis-of-yinzhihuang-oral-liquid-in-treatment-of-intrahepatic-cholestasis-of-pregnancy
#18
Jing-Jing Yan, Xiao-Ping Xia, Na Bu
To systematically review the clinical efficacy and safety of Yinzhihuang oral liquid in the treatment of intrahepatic cholestasis of pregnancy(ICP). Literatures published by June 2016 were searched in databases, such as Medline, Pubmed, Cochrane Library, China National Knowledge Infrastructure(CNKI), Chinese Scientific Journals Full-text Database(VIP), Chinese biomedical literature database(CBM), and Wanfang Database. Randomized controlled trials(RCT) of Yinzhihuang oral liquid were collected according to the inclusion criteria, and the methodological quality of selected literatures was evaluated...
December 2016: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
https://www.readbyqxmd.com/read/28926728/a-retrospective-cohort-review-of-intrahepatic-cholestasis-of-pregnancy-in-a-south-australian-population
#19
Jessica A Marathe, Wei How Lim, Michael P Metz, Wendy Scheil, Gustaaf A Dekker, William M Hague
OBJECTIVE: To review the management and outcomes of Intrahepatic Cholestasis of Pregnancy (ICP) in South Australia (SA) over the past decade. DESIGN: Retrospective cohort review. SETTING: Public clinics at two teaching hospitals in SA. POPULATION: All pregnancies associated with ICP (defined as pruritus with serum bile acids≥10μmol/L) managed 2001-2010. METHODS: Identification of subjects (laboratory database), detailed chart-review to ascertain demographics, maternal/perinatal outcomes and associated pregnancy comorbidities, analysis of mild/severe disease cohorts, comparison with normal population data, using Student's t-test or Mann-Whitney U test as appropriate for continuous variables, and Pearson's chi-square test or Fisher's exact test for categorical variables...
November 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28838453/cholestasis-after-pediatric-liver-transplantation-recurrence-of-a-progressive-familial-intrahepatic-cholestasis-phenotype-as-a-rare-differential-diagnosis-a-case-report
#20
B Prusinskas, S Kathemann, D Pilic, B Hegen, P Küster, V Keitel, D Häussinger, R Büscher, H A Baba, P F Hoyer, E Lainka
INTRODUCTION: Nonobstructive cholestasis after pediatric liver transplantation is a common diagnostic and therapeutic dilemma. We describe a girl with neonatal cholestasis because of progressive familial intrahepatic cholestasis 2 (PFIC-2) and presence of a homozygous splice site mutation in the ABCB11 gene. Liver transplantation was performed because of end-stage liver disease at the age of 6. Cholestasis with normal gamma-glutamyl transferase (GGT) developed 8 years after liver transplantation...
September 2017: Transplantation Proceedings
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