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Neonatal hepatitis

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https://www.readbyqxmd.com/read/27924246/adenovirus-and-culture-negative-sepsis-in-a-preterm-neonate
#1
Mohannad Moallem, Eunkyung Song, Preeti Jaggi, Miriam R Conces, Adriana E Kajon, Pablo J Sánchez
Background Respiratory viral infections remain an underrecognized cause of morbidity and mortality among preterm infants in the neonatal intensive care unit (NICU). Case Report An eight day old, 650 gram birth weight, 23 weeks' gestational age female developed "culture-negative" sepsis manifested by respiratory deterioration, hypoxia, leukocytosis, and thrombocytopenia. She was diagnosed with pneumonia and hepatitis due to adenovirus HAdV-D (H29F9) by polymerase chain reaction (PCR) testing, but died at the age of 18 days despite treatment with cidofovir and immune globulin intravenous...
October 2016: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/27909741/the-role-of-epigenetic-modifiers-in-extended-cultures-of-functional-hepatocyte-like-cells-derived-from-human-neonatal-mesenchymal-stem-cells
#2
M Cipriano, J C Correia, S P Camões, N G Oliveira, P Cruz, H Cruz, M Castro, J L Ruas, J M Santos, J P Miranda
The development of predictive in vitro stem cell-derived hepatic models for toxicological drug screening is an increasingly important topic. Herein, umbilical cord tissue-derived mesenchymal stem cells (hnMSCs) underwent hepatic differentiation using an optimized three-step core protocol of 24 days that mimicked liver embryogenesis with further exposure to epigenetic markers, namely the histone deacetylase inhibitor trichostatin A (TSA), the cytidine analogue 5-azacytidine (5-AZA) and dimethyl sulfoxide (DMSO)...
December 1, 2016: Archives of Toxicology
https://www.readbyqxmd.com/read/27895113/age-dependent-absolute-abundance-of-hepatic-carboxylesterases-ces1-and-ces2-by-lc-ms-ms-proteomics-application-to-pbpk-modeling-of-oseltamivir-in-vivo-pharmacokinetics-in-infants
#3
Mikael Boberg, Marc Vrana, Aanchal Mehrotra, Robin E Pearce, Andrea Gaedigk, Deepak Kumar Bhatt, J Steven Leeder, Bhagwat Prasad
The age-dependent absolute protein abundance of carboxylesterase 1 and 2 (CES1 and CES2) in human liver was investigated and applied to predict infant pharmacokinetics (PK) of oseltamivir. The CES absolute protein abundance was determined by LC-MS/MS proteomics in human liver microsomal and cytosolic fractions prepared from tissue samples obtained from 136 pediatric and 35 adult donors. Two surrogate peptides per protein were selected for the quantification of CES1 and CES2 protein abundance. Purified CES1 and CES2 protein standards were used as calibrators, and the heavy labeled peptides were used as the internal standards...
November 28, 2016: Drug Metabolism and Disposition: the Biological Fate of Chemicals
https://www.readbyqxmd.com/read/27894717/hepatitis-b-vaccine-alone-may-be-enough-for-preventing-hepatitis-b-virus-transmission-in-neonates-of-hbsag-hbeag-mothers
#4
Ying Lu, Xiao-Feng Liang, Fu-Zhen Wang, Ling Yan, Rong-Cheng Li, Yan-Ping Li, Feng-Cai Zhu, Xiang-Jun Zhai, Jie Li, Hui Zhuang
BACKGROUND AND AIM: To prospectively evaluate the efficacy of vaccine alone compared with vaccine plus HBIG for preventing HBV transmission in neonates of HBsAg (+)/HBeAg (-) mothers. METHODS: Combined immunization is currently recommended for neonates of HBsAg (+) mothers in China. As a result, a randomized design is infeasible due to ethical reasons. In practice, Guangxi Zhuang Autonomous Region and Jiangsu Province implement vaccine alone and vaccine plus HBIG strategies for neonates born to HBsAg (+)/HBeAg (-) mothers, respectively...
November 25, 2016: Vaccine
https://www.readbyqxmd.com/read/27891590/bi-allelic-iars-mutations-in-a-child-with-intra-uterine-growth-retardation-neonatal-cholestasis-and-mild-developmental-delay
#5
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
#6
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
#7
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/27869441/immunology-update-primary-immunodeficiency-diseases
#8
S Paul Starr
There are 264 primary immunodeficiencies (PIDs), most of which are rare. They are caused by complement deficiencies, defects in phagocyte function, impaired T-cell function, and/or impaired B-cell function with antibody deficiencies. Most patients with PIDs will present, at varying ages, with frequent infections. These infections can be common respiratory tract infections such as otitis media or pneumonia, or they can be unusual bacterial, fungal, or parasitic infections. Neonatal screening for severe combined immunodeficiency syndrome, one of the most common and serious PIDs, is now performed in most US states, but many PIDs manifest and are detected after birth...
November 2016: FP Essentials
https://www.readbyqxmd.com/read/27843908/anterior-chamber-pathology-in-alagille-syndrome
#9
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/27832417/lethal-neonatal-hyperammonemia-in-severe-ornithine-transcarbamylase-otc-deficiency-compounded-by-large-hepatic-portosystemic-shunt
#10
Lauren Beard, Erica Wymore, Laura Fenton, Curtis R Coughlin, James D Weisfeld-Adams
No abstract text is available yet for this article.
November 10, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27830543/alternative-cell-sources-to-adult-hepatocytes-for-hepatic-cell-therapy
#11
Eugenia Pareja, María José Gómez-Lechón, Laia Tolosa
Adult hepatocyte transplantation is limited by scarce availability of suitable donor liver tissue for hepatocyte isolation. New cell-based therapies are being developed to supplement whole-organ liver transplantation, to reduce the waiting-list mortality rate, and to obtain more sustained and significant metabolic correction. Fetal livers and unsuitable neonatal livers for organ transplantation have been proposed as potential useful sources of hepatic cells for cell therapy. However, the major challenge is to use alternative cell sources for transplantation that can be derived from reproducible methods...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27829683/biochemical-and-molecular-characteristics-of-citrin-deficiency-in-korean-children
#12
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/27827795/peroxisomal-protein-pex13-functions-in-selective-autophagy
#13
Ming Y Lee, Rhea Sumpter, Zhongju Zou, Shyam Sirasanagandla, Yongjie Wei, Prashant Mishra, Hendrik Rosewich, Denis I Crane, Beth Levine
PEX13 is an integral membrane protein on the peroxisome that regulates peroxisomal matrix protein import during peroxisome biogenesis. Mutations in PEX13 and other peroxin proteins are associated with Zellweger syndrome spectrum (ZSS) disorders, a subtype of peroxisome biogenesis disorder characterized by prominent neurological, hepatic, and renal abnormalities leading to neonatal death. The lack of functional peroxisomes in ZSS patients is widely accepted as the underlying cause of disease; however, our understanding of disease pathogenesis is still incomplete...
November 8, 2016: EMBO Reports
https://www.readbyqxmd.com/read/27821470/betamethasone-exposed-preterm-birth-does-not-impair-insulin-action-in-adult-sheep
#14
R De Matteo, D J Hodgson, T Bianco-Miotto, V Nguyen, J A Owens, R Harding, B J Allison, G Polglase, M J Black, K L Gatford
Preterm birth is associated with increased risk of type 2 diabetes (T2D) in adulthood; however, the underlying mechanisms are poorly understood. We therefore investigated the effect of preterm birth at ~0.9 of term after antenatal maternal betamethasone on insulin sensitivity, secretion and key determinants in adulthood, in a clinically relevant animal model. Glucose tolerance and insulin secretion (intravenous glucose tolerance test) and whole-body insulin sensitivity (hyperinsulinaemic euglycaemic clamp) were measured and tissue collected in young adult sheep (14 months old) after epostane-induced preterm (9M, 7F) or term delivery (11M, 6F)...
February 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/27798114/systemic-aav9-gene-therapy-improves-the-lifespan-of-mice-with-niemann-pick-disease-type-c1
#15
Randy J Chandler, Ian M Williams, Alana L Gibson, Cristin D Davidson, Arturo A Incao, Brandon T Hubbard, Forbes D Porter, William J Pavan, Charles P Venditti
Niemann-Pick disease, type C1 (NPC1) is a heritable lysosomal storage disease characterized by a progressive neurological degeneration that causes disability and premature death. A murine model of NPC1 disease (Npc1(-/-)) displays a rapidly progressing form of NPC1 disease which is characterized by weight loss, ataxia, increased cholesterol storage, loss of cerebellar Purkinje neurons and early lethality. To test the potential efficacy of gene therapy for NPC1, we constructed adeno-associated virus serotype 9 (AAV9) vectors to deliver the NPC1 gene under the transcriptional control of the neuronal-specific (CamKII) or a ubiquitous (EF1a) promoter...
October 25, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27785575/diagnosis-of-joubert-syndrome-via-ultrasonography
#16
Baris Buke, Emre Canverenler, Göksun İpek, Semiha Canverenler, Hatice Akkaya
Joubert syndrome (JS) and related disorders (JSRD) are a group of multiple congenital anomaly syndromes in which the diagnostic hallmark is the molar tooth sign (MTS), a complex midbrain malformation visible on brain imaging. Detection of the MTS should be followed by a diagnostic protocol to assess multi-organ involvement. The incidence of JSRD ranges between 1/80,000 and 1/100,000 live births, although these values may represent an underestimate. The neurological components of JSRD include hypotonia, ataxia, intellectual disability, abnormal eye movements, and neonatal breathing problems...
October 26, 2016: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/27780972/developmental-origins-of-nafld-a-womb-with-a-clue
#17
REVIEW
Stephanie R Wesolowski, Karim C El Kasmi, Karen R Jonscher, Jacob E Friedman
Changes in the maternal environment leading to an altered intrauterine milieu can result in subtle insults to the fetus, promoting increased lifetime disease risk and/or disease acceleration in childhood and later in life. Particularly worrisome is that the prevalence of NAFLD is rapidly increasing among children and adults, and is being diagnosed at increasingly younger ages, pointing towards an early-life origin. A wealth of evidence, in humans and non-human primates, suggests that maternal nutrition affects the placenta and fetal tissues, leading to persistent changes in hepatic metabolism, mitochondrial function, the intestinal microbiota, liver macrophage activation and susceptibility to NASH postnatally...
October 26, 2016: Nature Reviews. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/27780835/developmental-changes-in-hepatic-oct1-protein-expression-from-neonates-to-children
#18
David Hahn, Chie Emoto, Alexander A Vinks, Tsuyoshi Fukuda
Organic cation transporter 1 (OCT1) plays an important role in the disposition of clinically-important drugs, and the capacity of OCT1 activity is presumed to be proportional to the protein expression level in organ tissues. Presently, knowledge of OCT1 protein expression in children is very limited, especially among neonates and small infants. Here, we report on the characterization of OCT1 protein expression in neonatal, infant and pediatric liver samples performed by Immunoblot analysis. OCT1 protein expression was detected in liver samples from neonates as early as postnatal day 1 - 2...
October 25, 2016: Drug Metabolism and Disposition: the Biological Fate of Chemicals
https://www.readbyqxmd.com/read/27779839/hepatitis-b-in-poland-in-2014
#19
Małgorzata Stępień, Katarzyna Piwowarow, Mirosław P Czarkowski
OBJECTIVE: The aim of the study was to assess the epidemiological situation of hepatitis B in Poland in 2014 in comparison with the previous years. MATERIAL AND METHODS: The evaluation of the epidemiological situation was carried out on a basis of analysis of data from case-based reports on acute hepatitis B registered by sanitary and epidemiological stations, aggregate data derived from annual bulletins “Infectious diseases and poisonings in Poland”, data from annual bulletin “Vaccinations in Poland” and data on locally registered HBsAg carriers...
2016: Przegla̧d Epidemiologiczny
https://www.readbyqxmd.com/read/27774886/the-clinico-hematological-features-and-management-outcome-in-neonatal-malaria-a-nine-years-analysis-from-north-india
#20
Kriti Mohan
BACKGROUND: Malaria is an important cause of death and illness in children worldwide. Most cases of neonatal malaria are misdiagnosed because of the lack of specific symptoms and a general lack of awareness. Nothing much is known in literature about the haematological changes during malaria infection and outcome of disease in neonates. Neonatal malaria is an underdiagnosed entity. So this hospital based observational study aims to assess diagnostic features of neonatal malaria. METHODS: From August 2004 to August 2013, information of all slide positive for malaria cases aged 0 to 28 days admitted to our pediatric hospital was collected and analysed...
October 20, 2016: Infectious Disorders Drug Targets
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