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neonatal cholestasis

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https://www.readbyqxmd.com/read/29039163/-screening-for-amino-acid-metabolic-disorders-of-newborns-in-zhejiang-province-prevalence-outcome-and-follow-up
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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...
September 27, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28937538/severe-neonatal-cholestasis-in-cerebrotendinous-xanthomatosis-genetics-immunostaining-mass-spectrometry
#7
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 very 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...
September 20, 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
#8
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
#9
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
#10
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...
September 14, 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
#11
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
https://www.readbyqxmd.com/read/28825589/effect-of-intrahepatic-cholestasis-of-pregnancy-on-neonatal-birth-weight-a-meta-analysis
#12
Li Li, Yuan Hua Chen, Yuan Yuan Yang, Lin Cong
OBJECTIVE: To evaluate the effect of intrahepatic cholestasis of pregnancy (ICP) on neonatal birth weight. METHODS: Potential articles were identified by searching PubMed and Web of Science databases through April 30, 2017. Using the Mantel-Haenszel random-effects or fixed-effects model, outcomes were summarized through weighted mean difference (WMD) and 95% confidence intervals (CI). Potential publication bias was tested using the funnel plot and the method of Egger's regression and Begg's test...
August 21, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28818034/utility-of-hepatobiliary-scintigraphy-in-diagnosing-or-excluding-biliary-atresia-in-premature-neonates-and-full-term-infants-with-conjugated-hyperbilirubinemia-who-received-parenteral-nutrition
#13
Karine Barseghyan, Rangasamy Ramanathan, Thomas Chavez, Susan Harlan, Chuan-Hao Lin, Tania Mitsinikos, Claire McLean
PURPOSE: Hepatobiliary scintigraphy (HBS) is used to aid in the diagnosis of Biliary Atresia in full-term infants with conjugated hyperbilirubinemia. There is little information on the utility of the HBS in premature infants with conjugated hyperbilirubinemia and infants with parenteral nutrition associated cholestasis (PNAC). The purpose of this study is to assess the utility of HBS in differentiating Biliary Atresia and PNAC in premature neonates and full-term infants who received parenteral nutrition (PN)...
August 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28816798/solid-liver-lesions-in-an-infant-with-neonatal-cholestasis-is-it-always-malignant
#14
Zeren Bariş, Pelin Börcek, Kemal Murat Haberal, Figen Özçay
In this report we describe a patient with neonatal cholestasis who was found to have a liver lesion with suspicious imaging features, although ultimately it was histologically proved to be a pseudotumor. We discuss the characteristic features and imaging findings of macroregenerative nodules of the liver.
August 14, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28798896/pregnancy-outcomes-in-hiv-infected-women-experience-from-a-tertiary-care-center-in-india
#15
Vatsla Dadhwal, Aparna Sharma, Kavita Khoiwal, Dipika Deka, Plaboni Sarkar, P Vanamail
BACKGROUND AND OBJECTIVES: There is conflicting data on the effect of HIV infection as well as antiretroviral therapy (ART) on pregnancy outcome. The objectives of this study were to compare pregnancy outcomes in women with and without HIV infection, and to evaluate the effect of HAART on pregnancy in HIV-infected women. METHODS: This is a prospective case record analysis of 212 HIV-infected women delivering between 2002 and 2015, in a tertiary health care center in India...
2017: International Journal of MCH and AIDS
https://www.readbyqxmd.com/read/28780310/outcome-of-neonates-with-gastroschisis-at-different-gestational-ages-using-a-national-database
#16
Ruby Gupta, Erwin T Cabacungan
BACKGROUND/PURPOSE: The optimal time for delivery of neonates with a prenatal diagnosis of gastroschisis (GS) is controversial. We compared the outcomes for GS at three different gestational ages (GAs), 33-34 weeks, 35-36 weeks, and ≥ 37 weeks. METHODS: We analyze hospital discharge data of neonates with GS using the 2006, 2009 and 2012 Healthcare Cost and Utilization Project Kids' Inpatient Database (HCUPKIDS). Multivariable analysis was used to compare the association between GS outcomes and the three GAs...
July 22, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28763485/cxcr2-signaling-and-the-microbiome-suppress-inflammation-bile-duct-injury-and-the-phenotype-of-experimental-biliary-atresia
#17
Junbae Jee, Reena Mourya, Pranavkumar Shivakumar, Lin Fei, Michael Wagner, Jorge A Bezerra
Biliary atresia is progressive fibro-inflammatory cholangiopathy of young children. Central to pathogenic mechanisms of injury is the tissue targeting by the innate and adaptive immune cells. Among these cells, neutrophils and the IL-8/Cxcl-8 signaling via its Cxcr2 receptor have been linked to bile duct injury. Here, we aimed to investigate whether the intestinal microbiome modulates Cxcr2-dependent bile duct injury and obstruction. Adult wild-type (WT) and Cxcr2-/- mice were fed a diet supplemented with sulfamethoxazole/trimethoprim (SMZ/TMP) during pregnancy and lactation, and their pups were injected intraperitoneally with rhesus rotavirus (RRV) within 24 hours of life to induce experimental biliary atresia...
2017: PloS One
https://www.readbyqxmd.com/read/28745070/management-options-for-cholestatic-liver-disease-in-children
#18
Andrea Catzola, Pietro Vajro
Due to a peculiar age-dependent increased susceptibility, neonatal cholestasis affects the liver of approximately 1 in every 2500 term infants. A high index of suspicion is the key to an early diagnosis, and to implement timely, often life-saving treatments. Even when specific treatment is not available or curative, prompt medical management and optimization of nutrition are of paramount importance to survival and avoidance of complications. Areas covered: The present article will prominently focus on a series of newer diagnostic and therapeutic options of cholestasis in neonates and infants blended with consolidated established paradigms...
November 2017: Expert Review of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28737145/congenital-hepatic-fibrosis-with-polycystic-kidney-disease-an-unusual-cause-of-neonatal-cholestasis
#19
Vani Bharani, G Vybhav Venkatesh, Uma Nahar Saikia, B R Thapa
Congenital hepatic fibrosis is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. Typical presentation of congenital hepatic fibrosis is in the form of portal hypertension, in adolescents and young adults. We present an unusual case of neonatal cholestasis with rapid deterioration within first 4 months of life, who was diagnosed to have congenital hepatic fibrosis with polycystic kidney disease on autopsy.
July 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28730136/early-diagnosis-of-abcb11-spectrum-liver-disorders-by-next-generation-sequencing
#20
Su Jeong Lee, Jung Eun Kim, Byung-Ho Choe, An Na Seo, Han-Ik Bae, Su-Kyeong Hwang
PURPOSE: The goal of this study was the early diagnosis of ABCB11 spectrum liver disorders, especially those focused on benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis. METHODS: Fifty patients presenting neonatal cholestasis were evaluated to identify underlying etiologies. Genetic analysis was performed on patients suspected to have syndromic diseases or ABCB11 spectrum liver disorders. Two families with proven ABCB11 spectrum liver disorders were subjected to genetic analyses to confirm the diagnosis and were provided genetic counseling...
June 2017: Pediatric Gastroenterology, Hepatology & Nutrition
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