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https://www.readbyqxmd.com/read/28326955/a-challenging-case-of-severe-infantile-cholestasis-in-alpha-1-antitrypsin-deficiency
#1
Zahida Khan, Veena L Venkat, Kyle A Soltys, Donna B Stolz, Sarangarajan Ranganathan
Jaundice in the newborn period can be physiologic and is often due to benign causes. Jaundice due to conjugated hyperbilirubinemia extending beyond the second week of life may be an early sign of several cholestatic or metabolic liver diseases, and it requires logical and timely analysis so that specific treatments can be initiated. Alpha-1 antitrypsin deficiency is the most common genetic cause of pediatric liver disease and transplantation, and it must be considered when evaluating cholestatic infants. Here, we present an unusual case of alpha-1 antitrypsin deficiency with severe infantile cholestasis and rapid decompensation in the first 4 months of life, where in-depth but timely diagnosis was crucial for the appropriate intervention to take place...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28321310/neonatal-cholestasis-mimicking-biliary-atresia-could-it-be-urinary-tract-infection
#2
Noella Maria Delia Pereira, Ira Shah
Cholestasis can occur in newborns due to infections. However, the manifestations of the underlying infections usually dominate the presentation. We present a 2-month-old infant who presented with jaundice and no fever or signs of systemic illness. Liver biopsy was suggestive of cholangitis. He was subsequently detected to have urinary tract infection with Klebsiella pneumoniae. The child was treated with appropriate antibiotics for 2 weeks following which the cholestasis resolved. Thus, neonatal cholestasis due to infections can also occur in the post-neonatal period without clinical manifestations of an underlying infection...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28283555/developmental-genetic-dietary-and-xenobiotic-influences-on-neonatal-hyperbilirubinemia
#3
Mei-Fei Yueh, Shujuan Chen, Nghia Nguyen, Robert H Tukey
Hyperbilirubinemia, caused by the accumulation of unconjugated bilirubin, is one of the most common clinical diagnoses in both premature and term newborns. Owing to the fact that bilirubin is metabolized solely through glucuronidation by UDP-glucuronosyltransferase (UGT) 1A1, it is now known that immaturity of UGT1A1 in combination with overproduction of bilirubin during the developmental stage acts as a bottleneck to bilirubin elimination and predisposes the infant to high TBS levels. While neonatal jaundice is mostly benign, excessively high levels of serum bilirubin in a small percentage of newborns can cause bilirubin-induced neurologic dysfunction (BIND), potentially leading to permanent brain damage, a condition known as kernicterus...
March 10, 2017: Molecular Pharmacology
https://www.readbyqxmd.com/read/28264679/reproductive-outcomes-after-non-occupational-exposure-to-hexavalent-chromium-willits-california-1983-2014
#4
Linda L Remy, Vera Byers, Ted Clay
BACKGROUND: From 1963-1995, a factory in Willits, Mendocino County, CA used toxic hexavalent chromium (Cr(VI)) without adequate measures to protect the population. We use longitudinal hospital data to compare reproductive outcomes for two generations in Willits and two generations in the Rest of County (ROC). This is the first study to quantify the reproductive impact of Cr(VI) in a non-occupational population. METHODS: We searched California hospital discharge data (1983-2014) to find Mendocino County residents born 1950 or later...
March 6, 2017: Environmental Health: a Global Access Science Source
https://www.readbyqxmd.com/read/28260850/the-role-of-serum-apelin-in-retinopathy-of-prematurity
#5
Yasser F Ali, Salah El-Morshedy, Abdulbasit Abdulhalim Imam, Nasser Ismai A Abdelrahman, Riad M Elsayed, Usama M Alkholy, Nermin Abdalmonem, Mohammed M Shehab
OBJECTIVE: To evaluate the role of serum apelin as a diagnostic tool in retinopathy of prematurity (ROP) disease. PATIENTS AND METHODS: Thirty-eight preterm infants (60% male) with gestational age ranging from 30 to 36 weeks admitted to the neonatal intensive care unit, KJO Hospital, Saudi Arabia with proven diagnosis of ROP were included in the study. In addition, 27 preterm infants without ROP served as controls. All newborn infants in the study were subjected to adequate history taking, full clinical examination, and fundus examination by indirect ophthalmoscope (at 4-6 weeks) as well as determination of serum apelin at birth and at 4-6 weeks of age...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28179382/jaundice-in-newborn-babies-under-28%C3%A2-days-nice-guideline-2016-cg98
#6
Rachel C Amos, Hannah Jacob, Wynne Leith
No abstract text is available yet for this article.
February 8, 2017: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/28176163/retrospective-analysis-of-55-twin-neonates-with-haemolytic-disease-of-the-newborn
#7
Hu Zhao, Bijuan Li, Ning Li, Yamei Shen, Kailiang Liu, Xiangwu Shu, Cheng Mei, Lanlan Tang
Haemolytic disease is a condition characterized by anaemia and jaundice, and the course may be more complicated in twins. We investigated the demographic and laboratory characteristics of twins with haemolytic disease of the newborn (HDN) and compared these characteristics between groups categorized according to multiple birth status (twins vs. singletons) and conception method (assisted reproductive technology (ART) vs. spontaneous conception). Fifty-five twins with HDN and 253 singletons with HDN who were born during the same period (controls) were included in the study, and we performed comparisons between them...
February 8, 2017: Immunologic Research
https://www.readbyqxmd.com/read/28155287/primary-health-workers-knowledge-and-practices-relating-to-neonatal-jaundice-in-ibadan-nigeria
#8
Adebola E Orimadegun, Adeola O Ojebiyi
BACKGROUND: Over half of births and newborn care occur in primary healthcare facilities in Nigeria, but information on activities of personnel working there is scarce. AIM: To assess the knowledge and practices relating to neonatal jaundice (NNJ) among community health workers (CHWs) and community birth attendants (CBAs) in Nigeria. SETTING: We conducted a cross-sectional survey of all 227 CHWs and 193 registered CBAs in Ibadan, Nigeria...
January 30, 2017: African Journal of Primary Health Care & Family Medicine
https://www.readbyqxmd.com/read/28131490/prediction-of-3-to-5-month-outcomes-from-signs-of-acute-bilirubin-toxicity-in-newborn-infants
#9
Salma Z El Houchi, Iman Iskander, Rasha Gamaleldin, Amira El Shenawy, Iman Seoud, Hazem Abou-Youssef, Richard P Wennberg
OBJECTIVE: To evaluate the ability of the bilirubin-induced neurologic dysfunction (BIND) score to predict residual neurologic and auditory disability and to document the relationship of BIND score to total serum bilirubin (TSB) concentration. STUDY DESIGN: The BIND score (assessing mental status, muscle tone, and cry patterns) was obtained serially at 6- to 8-hour intervals in 220 near-term and full-term infants with severe hyperbilirubinemia. Neurologic and/or auditory outcomes at 3-5 months of age were correlated with the highest calculated BIND score...
January 25, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28123337/a-harmful-traditional-practice-in-newborns-with-adrenocorticotropic-hormone-resistance-syndrome-branding
#10
Osman Baştuğ, Levent Korkmaz, Sabriye Korkut, Hülya Halis, Tamer Güneş, Selim Kurtoğlu
Branding refers to a traditional practice of creating 'therapeutic' burns with hot iron rods over the skin in order to treat various diseases. Although branding is a harmful practice for the body, it has been used for various illnesses including physiologic jaundice in newborns, pneumonia, and convulsions. It causes serious morbidity and delays seeking proper medical care in neonates. Innovations of modern medicine and the use of evidence-based medicine should be preferred instead of these traditional practices...
December 2016: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28123333/clinical-molecular-and-genetic-evaluation-of-galactosemia-in-turkish-children
#11
Sezen Ugan Atik, Semra Gürsoy, Tuba Koçkar, Hasan Önal, Servet Erdal Adal
AIM: Galactosemia is a carbohydrate metabolism disorder with autosomal recessive inheritance. The most frequent enzyme deficiency is galactose-1-phosphate-uridylytransferase, which causes classic galactosemia. When the enzyme is absent, an infant cannot metabolize galactose-1-phosphate and it cumulates in liver, kidney, brain, tongue, lens, and skin. This study aimed to evaluate the clinical and molecular characteristics of patients with galactosemia, which is observed more frequently in our country than anywhere else in the world...
December 2016: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28094087/-management-of-jaundice-in-the-newborn%C3%A2-35%C3%A2-gw-from-screening-to-follow-up-after-discharge-guidelines-for-clinical-practice
#12
A Cortey, L Renesme, J Raignoux, A Bedu, C Casper, P Tourneux, P Truffert
Jaundice due to unconjugated bilirubin is an everyday condition in the neonatal period because it results from the adaptation of bilirubin metabolism at this time of life. Hyperbilirubinemia has a potential neurotoxicity and although it most often resolves spontaneously, it can lead to acute and sometimes chronic encephalopathy. The latter condition is called kernicterus and induces severe and irreversible neurological sequelae. This rare complication is still reported in all countries throughout the world even if severe hyperbilirubinemia can be prevented and critical points points of failure in jaundice management are identified...
February 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28050400/the-association-between-prolonged-jaundice-and-ugt1a1-gene-polymorphism-g71r-in-gilbert-s-syndrome
#13
Ehsan Alaee, Behnaz Bazrafshan, Ali Reza Azaminejad, Mahnaz Fouladinejad, Majid Shahbazi
INTRODUCTION: Jaundice is a common condition during the neonatal period. Prolonged jaundice occurs in a large number of breastfed infants. Considering the impact of genetic factors on the incidence of jaundice present study was conducted. AIM: The aim of this study was to determine the association between prolonged jaundice and G71R polymorphism in Gilbert's syndrome. MATERIALS AND METHODS: This case-control study was conducted at Taleghani Children's Hospital of Gorgan, Iran...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28041867/-recommendations-for-the-management-of-neonatal-jaundice-from-the-term-newborn-to-the-premature-baby-a-challenge-for-the-french-society-of-neonatalogy
#14
A Bedu, L Renesme, P Tourneux, A Cortey
No abstract text is available yet for this article.
February 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28036100/haemolytic-and-nonhaemolytic-jaundice-revisited
#15
LETTER
Michael Kaplan
No abstract text is available yet for this article.
December 30, 2016: Acta Paediatrica
https://www.readbyqxmd.com/read/28028516/the-effect-of-head-covering-in-prevention-of-phototherapy-induced-hypocalcemia-in-icterus-newborns-with-gestational-age-less-than-35-weeks
#16
Behzad Barekatain, Zohrea Badiea, Neda Hoseini
BACKGROUND: Hypocalcemia is one of the complications of phototherapy resulted from influence of phototherapy in melatonin secretion reducing corticosterone and ultimately increasing bone uptake. In this study, effect of head covering in prevention of this common and serious complication is studied. MATERIALS AND METHODS: This prospective, randomized clinical trial study conducted on premature infants with gestational age <35 weeks with jaundice. Infants were divided into two groups (n = 43)...
2016: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28025333/modulation-of-bilirubin-neurotoxicity-by-the-abcb1-transporter-in-the-ugt1-lethal-mouse-model-of-neonatal-hyperbilirubinemia
#17
Luka Bočkor, Giulia Bortolussi, Simone Vodret, Alessandra Iaconcig, Jana Jašprová, Jaroslav Zelenka, Libor Vitek, Claudio Tiribelli, Andrés F Muro
Moderate neonatal jaundice is the most common clinical condition during newborn life. However, a combination of factors may result in acute hyperbilirubinemia, placing infants at risk of developing bilirubin encephalopathy and death by kernicterus. While most risk factors are known, the mechanisms acting to reduce susceptibility to bilirubin neurotoxicity remain unclear. The presence of modifier genes modulating the risk of developing bilirubin-induced brain damage is increasingly being recognised. The Abcb1 and Abcc1 members of the ABC family of transporters have been suggested to have an active role in exporting unconjugated bilirubin from the central nervous system into plasma...
December 25, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28007512/-the-complex-phenotype-of-arc-syndrome-a-new-case
#18
A Giraud, F Ramond, C Cremillieux, R Touraine, H Patural, J-L Stephan
ARC syndrome (arthrogryposis - renal dysfunction - cholestasis) is a rare lethal multisystemic autosomal recessive disease. A newborn of consanguineous parents of Algerian descent presented cholestatic jaundice, dehydration, and Fanconi syndrome at 10 days of life. The blood smear showed a very characteristic gray appearance of platelets. A homozygous mutation was evidenced in the VPS33B gene. This gene codes for a protein involved in trafficking of intracellular vesicles. The mutation (c.604-2A>G) present in the heterozygous state in the parents affects an invariant base of the splice acceptor site and to our knowledge has not been reported yet...
February 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28002310/committee-opinion-no-684-delayed-umbilical-cord-clamping-after-birth
#19
(no author information available yet)
Delayed umbilical cord clamping appears to be beneficial for term and preterm infants. In term infants, delayed umbilical cord clamping increases hemoglobin levels at birth and improves iron stores in the first several months of life, which may have a favorable effect on developmental outcomes. There is a small increase in jaundice that requires phototherapy in this group of infants. Consequently, health care providers adopting delayed umbilical cord clamping in term infants should ensure that mechanisms are in place to monitor for and treat neonatal jaundice...
January 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28002305/committee-opinion-no-684-summary-delayed-umbilical-cord-clamping-after-birth
#20
(no author information available yet)
Delayed umbilical cord clamping appears to be beneficial for term and preterm infants. In term infants, delayed umbilical cord clamping increases hemoglobin levels at birth and improves iron stores in the first several months of life, which may have a favorable effect on developmental outcomes. There is a small increase in jaundice that requires phototherapy in this group of infants. Consequently, health care providers adopting delayed umbilical cord clamping in term infants should ensure that mechanisms are in place to monitor for and treat neonatal jaundice...
January 2017: Obstetrics and Gynecology
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