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neonatal cholestasis

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https://www.readbyqxmd.com/read/27891590/bi-allelic-iars-mutations-in-a-child-with-intra-uterine-growth-retardation-neonatal-cholestasis-and-mild-developmental-delay
#1
Naama Orenstein, Karin Weiss, Stephanie N Oprescu, Rivka Shapira, Dvora Kidron, Lina Vanagaite-Basel, Anthony Antonellis, Maximilian Muenke
Recently, bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole-exome sequencing. Our findings support the association between this disorder and neonatal cholestasis with distinct liver pathology. Furthermore, we provide functional data on two novel missense substitutions and expand the phenotype to include mild developmental delay, skin hyper-elasticity, and hypervitaminosis D...
November 28, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27891271/intrahepatic-cholestasis-of-pregnancy-with-severe-elevation-of-bile-acids-in-the-setting-of-acute-hepatitis-c-infection
#2
Megan L Lawlor, Agatha S Critchfield
Intrahepatic cholestasis of pregnancy (ICP) is a complication of pregnancy resulting in elevation of serum bile acid levels. ICP is often associated with underlying liver disease, including hepatitis C. Bile acids in relationship to the acute infection of hepatitis C virus have not yet been delineated in the literature. A 26-year-old gravida 4 para 2103 with dichorionic, diamniotic twin gestation and history of intravenous drug abuse developed ICP in the setting of acute hepatitis C infection. In addition to clinical symptoms of pruritus and right upper quadrant pain, she developed severe elevation in bile acids, 239 micromol/L, and transaminitis aspartate aminotransferase 1033 U/L, and alanine aminotransferase 448 U/L...
2016: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27890981/neonatal-cholestasis-single-centre-experience-in-central-india
#3
Mayank Jain, Sagar Adkar, Chandrashekhar Waghmare, Jenisha Jain, Shikhar Jain, Kamna Jain, Gouri Rao Passi, Rashmi Shad Vinay, M K Soni
BACKGROUND: Neonatal cholestasis syndrome (NCS) is a major cause of morbidity and mortality in infants. The disorder has rarely been studied in centers from Central India. OBJECTIVES: To study the prevalence, clinical presentation and etiology of NCS at a tertiary referral center in Central India. MATERIALS AND METHODS: The study was carried out at a tertiary referral center in Central India. The study is a descriptive study. The records of all patients with suspected NCS treated in the Department of Pediatrics from 2007-2012 were analyzed...
October 2016: Indian Journal of Community Medicine
https://www.readbyqxmd.com/read/27882439/obstetric-and-perinatal-outcome-of-babies-born-from-sperm-selected-by-macs-from-a-randomized-controlled-trial
#4
Laura Romany, Nicolas Garrido, Ana Cobo, Belen Aparicio-Ruiz, Vicente Serra, Marcos Meseguer
PURPOSE: The purpose of this study is to assess outcomes after magnetic-activated cell sorting (MACS) technology on obstetric and perinatal outcomes compared with those achieved after swim up from randomized controlled trial. METHODS: This is a two-arm, unicentric, prospective, randomized, and triple-blinded trial and has a total of 237 infertile couples, between October 2010 and January 2013. A total of 65 and 66 newborns from MACS and control group, respectively, were described...
November 23, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27843908/anterior-chamber-pathology-in-alagille-syndrome
#5
Derek K Ho, Alex V Levin, William V Anninger, David A Piccoli, Ralph C Eagle
BACKGROUND: Alagille syndrome is an autosomal dominant disorder characterized by neonatal cholestasis, characteristic facies, and cardiac abnormalities. Ocular abnormalities include posterior embryotoxon, mosaic pattern of iris stromal hypoplasia, microcornea, optic disc drusen, and pigmentary retinopathy. We present the second report of ocular pathology in two cases of Alagille syndrome. METHODS: Gross and histologic preparations of four eyes of two patients. RESULTS: Posterior embryotoxon is seen in both cases, with iris processes extending to the embryotoxon in case 1...
October 2016: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/27829683/biochemical-and-molecular-characteristics-of-citrin-deficiency-in-korean-children
#6
Seak Hee Oh, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Kyung Mo Kim, Han-Wook Yoo
Mutations in SLC25A13 cause citrin deficiency, which has three phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) and adult-onset type 2 citrullinemia (CTLN2). The purpose of this study was to determine the mutation spectrum and the clinical and biochemical characteristics of citrin deficiency in Korean patients. Thirty-four patients were diagnosed with citrin deficiency based on mutations in SLC25A13, as verified by direct sequencing and long PCR screening of a large transposon insertion...
November 10, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27806795/-infantile-cholestasis-caused-by-cftr-mutation-case-report-and-literature-review
#7
L Li, N L Wang, J Y Gong, J S Wang
Objective: To study the clinical presentation, biochemical features and genetic analysis of an infant with cholestasis related to the CFTR mutations. Method: The clinical presentation, laboratory investigations and management of a case with infantile cholestasis caused by CFTR mutations were summarized and the relevant literature was reviewed. Result: (1) The patient was a 5 months old boy with cholestasis which developed in neonatal period with delayed meconium exclusion.The laparoscopic exploration was performed to exclude biliary atresia because of acholic stool when he was two months old...
November 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27781254/-application-of-bishop-koop-stoma-in-refractory-congenital-intestinal-atresia
#8
Hong Zhang, Wei Zhong, Jing Sun, Qiuming He, Yong Wang, Le Li, Jiakang Yu, Zhe Wang, Zhihua Ye, Kailin Tang, Huimin Xia
OBJECTIVE: To explore the feasibility and safety of Bishop-Koop stoma procedure in the treatment of neonates with refractory congenital intestinal atresia. METHODS: Clinical and follow-up data of 25 neonates with refractory congenital intestinal atresia undergoing Bishop-Koop stoma procedure in our center from January 2011 to December 2014 were retrospectively analyzed. Of 25 neonates, 13 (52%) were male, 12(48%) were female, the birth weight was 1600-3800 g (mean 2920 g), the age of admission was 10 hours to 20 days, and the age of operation was 1-58 d (mean 7 d)...
October 25, 2016: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/27779681/slc25a13-cdna-cloning-analysis-using-peripheral-blood-lymphocytes-facilitates-the-identification-of-a-large-deletion-mutation-molecular-diagnosis-of-an-infant-with-neonatal-intrahepatic-cholestasis-caused-by-citrin-deficiency
#9
Han-Shi Zeng, Wei-Xia Lin, Shu-Tao Zhao, Zhan-Hui Zhang, Heng-Wen Yang, Feng-Ping Chen, Yuan-Zong Song, Zhi-Nan Yin
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder resulting from biallelic mutations of the SLC25A13 gene. Due to the lack of well‑recognized clinical or biochemical diagnostic criteria, the definitive diagnosis of this disease relies on the genetic analysis of SLC25A13 at present. As novel large deletion/insertion mutations of the SLC25A13 gene are difficult to detect using routine DNA analytic approaches, the timely diagnosis of patients with these types of mutations remains a challenge...
October 21, 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27776845/-the-use-of-progestatives-for-the-prevention-of-spontaneous-preterm-birth
#10
E Azria
OBJECTIVES: To identify clinical situations in which progestatives used to reduce the risk of spontaneous preterm delivery and/or reduced adverse neonatal outcomes have been evaluated and identify situations in which 17OHPC or vaginal progesterone might be recommended. METHODS: Bibliographic searches were performed in the Medline and Cochrane databases with the use of a combination of keywords and text words related to "progesterone", "tocolysis", and "preterm labor" from 1956 through July 2016...
October 21, 2016: Journal de Gynécologie, Obstétrique et Biologie de la Reproduction
https://www.readbyqxmd.com/read/27762324/maternal-and-live-birth-outcomes-of-pregnancies-following-assisted-reproductive-technology-a-retrospective-cohort-study
#11
Linling Zhu, Yu Zhang, Yifeng Liu, Runjv Zhang, Yiqing Wu, Yun Huang, Feng Liu, Meigen Li, Saijun Sun, Lanfeng Xing, Yimin Zhu, Yiyi Chen, Li Xu, Liangbi Zhou, Hefeng Huang, Dan Zhang
This study was carried out to explore associations between assisted reproductive technology (ART) and maternal and neonatal outcomes compared with similar outcomes following spontaneously conceived births. We conducted a retrospective cohort study of pregnancies conceived by ART (N = 2641) during 2006-2014 compared to naturally conceived pregnancies (N = 5282) after matching for maternal age and birth year. Pregnancy complications, perinatal complications and neonatal outcomes of enrolled subjects were investigated and analysed by multivariate logistic regression...
October 20, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27749550/evaluating-the-effectiveness-and-safety-of-ursodeoxycholic-acid-in-treatment-of-intrahepatic-cholestasis-of-pregnancy-a-meta-analysis-a-prisma-compliant-study
#12
Xiang Kong, Yan Kong, Fangyuan Zhang, Tingting Wang, Jin Yan
BACKGROUND: Intrahepatic cholestasis of pregnancy (ICP) is a specific pregnancy-related disorder without standard medical therapies. Ursodeoxycholic acid (UDCA) is the most used medicine, but the efficacy and safety of UDCA remain uncertain. Several meta-analyses had been made to assess the effects of UDCA in ICP. However, the samples were not large enough to convince obstetricians to use UDCA. We conducted a meta-analysis to evaluate the effects and safety of UDCA in patients with ICP, which included only randomized controlled trials (RCTs)...
October 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27746616/progressive-familial-intrahepatic-cholestasis-pfic-in-indian-children-clinical-spectrum-and-outcome
#13
Sajan Agarwal, Bikrant Bihari Lal, Dinesh Rawat, Archana Rastogi, Kishore G S Bharathy, Seema Alam
OBJECTIVE: To study the clinical and laboratory profile of children with progressive familial intrahepatic cholestasis (PFIC) and evaluate their outcome. METHODS: The study is a retrospective review of all cases diagnosed with PFIC between January 2011 and July 2015. All children underwent histopathological examination and immunostaining. Management was done as per institute's protocol. RESULTS: There were a total of 24 PFIC cases (PFIC 1-2, PFIC 2-19, PFIC 3-3)...
September 2016: Journal of Clinical and Experimental Hepatology
https://www.readbyqxmd.com/read/27688976/aggressive-nutrition-in-extremely-low-birth-weight-infants-impact-on-parenteral-nutrition-associated-cholestasis-and-growth
#14
Andreas Repa, Ruth Lochmann, Lukas Unterasinger, Michael Weber, Angelika Berger, Nadja Haiden
BACKGROUND: Parenteral nutrition associated cholestasis (PNAC) is a frequently observed pathology in extremely low birth weight (ELBW) infants. Its pathogenesis is determined by the composition and duration of parenteral nutrition (PN) as well as the tolerance of enteral feeds (EF). "Aggressive" nutrition is increasingly used in ELBW infants to improve postnatal growth. Little is known about the effect of "aggressive" nutrition on the incidence of PNAC. We analyzed the influence of implementing an "aggressive" nutritional regimen on the incidence of PNAC and growth in a cohort of ELBW infants...
2016: PeerJ
https://www.readbyqxmd.com/read/27670958/beneficial-effects-of-mucous-fistula-refeeding-in-necrotizing-enterocolitis-neonates-with-enterostomies
#15
Eugene Ct Lau, Adrian Ch Fung, Kenneth Ky Wong, Paul Kh Tam
BACKGROUND: Necrotizing enterocolitis in premature neonates often results in bowel resection and stoma formation. One way to promote bowel adaptation before stoma closure is to introduce proximal loop effluents into the mucous fistula. In this study, we reviewed our experience with distal loop refeeding with respect to control group. METHODS: All patients with necrotizing enterocolitis between 2000 and 2014 necessitating initial diverting enterostomies and subsequent stoma closure in a tertiary referral center were included...
September 15, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27663215/complications-of-endoscopic-retrograde-cholangiopancreatography-in-pediatric-patients-a-systematic-literature-review-and-meta-analysis
#16
Danielle Usatin, Melissa Fernandes, Isabel E Allen, Emily R Perito, James Ostroff, Melvin B Heyman
OBJECTIVES: To systematically review risks and summarize reported complication rates associated with the performance of endoscopic retrograde cholangiopancreatography (ERCP) in children during the past 2 decades. STUDY DESIGN: A systematic literature search of MEDLINE, Embase, and Web of Science from January 1995 to January 2016 was conducted for observational studies published in English. Studies reporting ERCP complications in patients <21 years without history of liver transplant or cholecystectomy were included...
December 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27651575/obstetric-outcome-during-an-era-of-active-management-for-obstetrics-cholestasis
#17
Nalini Sharma, S Panda, Ahanthem Santa Singh
OBJECTIVE: To study the incidence, maternal, and perinatal outcomes in intrahepatic cholestasis of pregnancy with active management. MATERIALS AND METHODS: This observational study included 48 cases diagnosed as intrahepatic cholestasis of pregnancy. Medical treatment and active management (fetal surveillance and termination of pregnancy at 37-38 weeks) were offered to all. Maternal and perinatal outcomes are studied. RESULTS: Incidence of ICP was 2...
October 2016: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/27651555/idiopathic-neonatal-hepatitis-or-extrahepatic-biliary-atresia-the-role-of-liver-biopsy
#18
Abdelmoneim Em Kheir, Wisal Ma Ahmed, Israa Gaber, Sara Ma Gafer, Badreldin M Yousif
Cholestasis in early infancy represents a diagnostic dilemma and most of these infants suffer either from extrahepatic biliary atresia or idiopathic neonatal hepatitis. Differentiation between the two conditions may be extremely difficult both clinically and biochemically, and a diagnostic liver biopsy is usually required. We report on a Sudanese infant who presented at the age of 4 weeks with prolonged cholestatic jaundice, abdominal ultrasound was inconclusive, HIDA scan was suggestive of extrahepatic biliary atresia and the diagnosis of idiopathic neonatal hepatitis was only reached by liver biopsy...
2016: Sudanese Journal of Paediatrics
https://www.readbyqxmd.com/read/27630751/cytomegalovirus-may-mimic-the-presentation-of-intrahepatic-cholestasis-and-hemolysis-elevated-liver-enzymes-and-low-platelets-in-immunosuppressed-pregnant-women
#19
Gurleen Wander, Francesa Neuberger, Mandish K Dhanjal, Catherine Nelson-Piercy, May Ching Soh
Most published cases of cytomegalovirus infection in pregnancy relate to congenital abnormalities in neonates infected in early pregnancy, while the mother remains asymptomatic. We describe a diagnostically challenging case of an immunosuppressed woman with scleroderma who developed deranged liver function tests attributed to intrahepatic cholestasis of pregnancy and haemolysis, elevated liver enzymes and low platelets syndrome but was ultimately found to have disseminated cytomegalovirus. Cytomegalovirus can present in a myriad of ways...
September 2016: Obstetric Medicine
https://www.readbyqxmd.com/read/27614807/mucous-fistula-refeeding-decreases-parenteral-nutrition-exposure-in-postsurgical-premature-neonates
#20
Colin D Gause, Madoka Hayashi, Courtney Haney, Daniel Rhee, Omar Karim, Brian W Weir, Dylan Stewart, Jeffrey Lukish, Henry Lau, Fizan Abdullah, Estelle Gauda, Howard I Pryor
BACKGROUND/PURPOSE: Premature neonates can develop intraabdominal conditions requiring emergent bowel resection and enterostomy. Parenteral nutrition (PN) is often required, but results in cholestasis. Mucous fistula refeeding allows for functional restoration of continuity. We sought to determine the effect of refeeding on nutrition intake, PN dependence, and PN associated hepatotoxicity while evaluating the safety of this practice. METHODS: A retrospective review of neonates who underwent bowel resection and small bowel enterostomy with or without mucous fistula over 2years was undertaken...
November 2016: Journal of Pediatric Surgery
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