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https://www.readbyqxmd.com/read/28302345/newborn-screening-for-six-lysosomal-storage-disorders-in-a-cohort-of-mexican-patients-three-year-findings-from-a-screening-program-in-a-closed-mexican-health-system
#1
Juana Inés Navarrete-Martínez, Ana Elena Limón-Rojas, Maria de Jesús Gaytán-García, Jesús Reyna-Figueroa, Guillermo Wakida-Kusunoki, Ma Del Rocío Delgado-Calvillo, Consuelo Cantú-Reyna, Héctor Cruz-Camino, David Eduardo Cervantes-Barragán
OBJECTIVE: To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services). STUDY DESIGN: Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease...
March 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28294089/media-audit-reveals-inappropriate-promotion-of-products-under-the-scope-of-the-international-code-of-marketing-of-breast-milk-substitutes-in-south-east-asia
#2
Kristine Hansen Vinje, Linh Thi Hong Phan, Tuan Thanh Nguyen, Sigrun Henjum, Lovise Omoijuanfo Ribe, Roger Mathisen
OBJECTIVE: To review regulations and to perform a media audit of promotion of products under the scope of the International Code of Marketing of Breast-milk Substitutes ('the Code') in South-East Asia. DESIGN: We reviewed national regulations relating to the Code and 800 clips of editorial content, 387 advertisements and 217 Facebook posts from January 2015 to January 2016. We explored the ecological association between regulations and market size, and between the number of advertisements and market size and growth of milk formula...
March 15, 2017: Public Health Nutrition
https://www.readbyqxmd.com/read/28284388/neonatal-screening-for-inherited-metabolic-diseases-in-2016
#3
Judit Garcia Villoria, Sonia Pajares, Rosa María López, José Luis Marin, Antonia Ribes
The scope of newborn screening (NBS) programs is continuously expanding. NBS programs are secondary prevention interventions widely recognized internationally in the "field of Public Health." These interventions are aimed at early detection of asymptomatic children affected by certain diseases, with the objective to establish a definitive diagnosis and apply the proper treatment to prevent further complications and sequelae and ensure a better quality of life. The most significant event in the history of neonatal screening was the discovery of phenylketonuria in 1934...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28281303/long-chain-polyunsaturated-fatty-acid-supplementation-in-infants-born-at-term
#4
REVIEW
Bonny Jasani, Karen Simmer, Sanjay K Patole, Shripada C Rao
BACKGROUND: The long chain polyunsaturated fatty acids (LCPUFA) docosahexaenoic acid (DHA) and arachidonic acid (AA) are considered essential for maturation of the developing brain, retina and other organs in newborn infants. Standard infant milk formulae are not supplemented with LCPUFA; they contain only alpha-linolenic acid and linoleic acid, from which formula-fed infants must synthesise their own DHA and AA, respectively. Over the past few years, some manufacturers have added LCPUFA to formula milk and have marketed these products as providing an advantage for the overall development of full-term infants...
March 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28274233/newborn-screening-for-tyrosinemia-type-1-using-succinylacetone-a-systematic-review-of-test-accuracy
#5
REVIEW
Chris Stinton, Julia Geppert, Karoline Freeman, Aileen Clarke, Samantha Johnson, Hannah Fraser, Paul Sutcliffe, Sian Taylor-Phillips
BACKGROUND: Tyrosinemia type 1 is an autosomal recessive disorder of amino acid metabolism. Without treatment, death in childhood is common. Treatment with nitisinone and dietary restrictions are associated with improved outcomes; some studies suggest better outcomes when treatment begins at an asymptomatic stage. Newborn screening allows for earlier identification, but there is uncertainty regarding the test accuracy of the current method: succinylacetone measurement in dried blood spots using tandem mass spectrometry...
March 9, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28272722/study-on-the-relationship-between-the-expression-of-igf-1-in-umbilical-cord-blood-and-abnormal-glucose-metabolism-during-pregnancy
#6
K Liu, H-Y Wu, Y-H Xu
OBJECTIVE: To explore the relationship between the expression of insulin-like growth factor-1 (IGF-1) in neonatal umbilical cord blood and abnormal glucose metabolism during pregnancy. PATIENTS AND METHODS: We have selected 63 cases of delivery randomly, term birth and maternal from January 2015 to January 2016 in our hospital, gestational diabetes mellitus for Group A, abnormal gestational glucose tolerance for Group B and normal for Group C with 21 cases in each group...
February 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28270365/treatment-of-infants-identified-as-having-severe-combined-immunodeficiency-by-means-of-newborn-screening
#7
Morna J Dorsey, Christopher C Dvorak, Morton J Cowan, Jennifer M Puck
Severe combined immunodeficiency (SCID) is characterized by severely impaired T-cell development and is fatal without treatment. Newborn screening (NBS) for SCID permits identification of affected infants before development of opportunistic infections and other complications. Substantial variation exists between treatment centers with regard to pretransplantation care, and transplantation protocols for NBS identified infants with SCID, as well as infants with other T-lymphopenic disorders detected by using NBS...
March 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28267223/fundal-pressure-during-the-second-stage-of-labour
#8
REVIEW
G Justus Hofmeyr, Joshua P Vogel, Anna Cuthbert, Mandisa Singata
BACKGROUND: Fundal pressure during the second stage of labour (also known as the 'Kristeller manoeuvre') involves application of manual pressure to the uppermost part of the uterus directed towards the birth canal, in an attempt to assist spontaneous vaginal birth and avoid prolonged second stage or the need for operative birth. Fundal pressure has also been applied using an inflatable belt. Fundal pressure is widely used, however methods of its use vary widely. Despite strongly held opinions in favour of and against the use of fundal pressure, there is limited evidence regarding its maternal and neonatal benefits and harms...
March 7, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28260772/neonatal-transport-experience-of-a-tertiary-care-hospital-of-bangladesh
#9
S K Dey, S Sharker, I Jahan, S C Moni, K H Shabuj, M J Chisti, M A Mannan, M Shahidullah
Safe transportation is mostly an unnoticed neonatal health issue in Bangladesh and no documentation is available regarding the existing practices. So this study was intended to document transport status of the referred newborn to a tertiary care hospital. This observational study included 150 out born neonates over 12 months period transported from various places to NICU, Bangabandhu Sheikh Mujib Medical University (BSMMU) from May 2015 to April 2016. A structured data collection form was used to record information categorized into pre-transport, during transport and at admission...
January 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28260290/-the-influence-of-the-intrapartum-inventions-on-the-maternal-and-neonatal-outcomes-of-vaginal-birth-after-cesarean
#10
S W Wu, D He, W Y Zhang
Objective: To investigate the maternal and neonatal outcomes after different intrapartum interventions for vaginal birth after cesarean (Vaginal Birth After Cesarean-section, VBAC). Methods: One hundred and forty three cases in Beijing Obstetrics & Gynecology Hospital, Capital Medical University from January 2015 to November 2016 were selected retrospectively.The relationship between the intrapartum inventions such as induction style, oxytocin usage and spinal analgesia and the maternal and neonatal outcomes such as delivery way, labor time, postpartum hemorrhage and fetal distress were analyzed in pregnant women underwent VBAC...
February 21, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28248319/safety-dosing-and-pharmaceutical-quality-for-studies-that-evaluate-medicinal-products-including-biological-products-in-neonates
#11
Robert M Ward, Daniel Benjamin, Jeffrey S Barrett, Karel Allegaert, Ronald Portman, Jonathan M Davis, Mark A Turner
The study of medications among pediatric patients has increased worldwide since 1997 in response to new legislation and regulations, but these studies have not yet adequately addressed the therapeutic needs of neonates. Additionally, extant guidance developed by regulatory agencies worldwide does not fully address the specificities of neonatal drug development, especially among extremely premature newborns who currently survive. Consequently, an international consortium from Canada, Europe, Japan, and the United States was organized by the Critical Path Institute to address the content of guidance...
March 1, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28241773/zika-virus-infection-in-pregnancy-a-systematic-review-of-disease-course-and-complications
#12
REVIEW
Ezinne C Chibueze, Veronika Tirado, Katharina da Silva Lopes, Olukunmi O Balogun, Yo Takemoto, Toshiyuki Swa, Amarjargal Dagvadorj, Chie Nagata, Naho Morisaki, Clara Menendez, Erika Ota, Rintaro Mori, Olufemi T Oladapo
OBJECTIVES: To characterize maternal Zika virus (ZIKV) infection and complement the evidence base for the WHO interim guidance on pregnancy management in the context of ZIKV infection. METHODS: We searched the relevant database from inception until March 2016. Two review authors independently screened and assessed full texts of eligible reports and extracted data from relevant studies. The quality of studies was assessed using the Newcastle-Ottawa Scale (NOS) and the National Institute of Health (NIH) tool for observational studies and case series/reports, respectively...
February 28, 2017: Reproductive Health
https://www.readbyqxmd.com/read/28240381/the-global-network-neonatal-cause-of-death-algorithm-for-low-resource-settings
#13
Ana L Garces, Elizabeth M McClure, Wilton Pérez, K Michael Hambidge, Nancy F Krebs, Lester Figueroa, Carl L Bose, Waldemar A Carlo, Constance Tenge, Fabian Esamai, Shivaprasad S Goudar, Sarah Saleem, Archana B Patel, Melody Chiwila, Elwyn Chomba, Antoinette Tshefu, Richard J Derman, Patricia L Hibberd, Sherri Bucher, Edward A Liechty, Melissa Bauserman, Janet L Moore, Marion Koso-Thomas, Menachem Miodovnik, Robert L Goldenberg
AIM: This study estimated the causes of neonatal death using an algorithm for low-resource areas, where 98% of the world's neonatal deaths occur. METHODS: We enrolled women in India, Pakistan, Guatemala, the Democratic Republic of Congo, Kenya and Zambia from 2014-2016 and tracked their delivery and newborn outcomes for up to 28 days. Antenatal care and delivery symptoms were collected using a structured questionnaire, clinical observation and, or, a physical examination...
February 27, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28225048/thiamine-deficiency-oxidative-metabolic-pathways-and-ethanol-induced-neurotoxicity-how-poor-nutrition-contributes-to-the-alcoholic-syndrome-as-marchiafava-bignami-disease
#14
REVIEW
L M P Fernandes, F R Bezerra, M C Monteiro, M L Silva, F R de Oliveira, R R Lima, E A Fontes-Júnior, C S F Maia
Ethanol is an important risk factor for the occurrence of several brain disorders that depend on the amount, period and frequency of its consumption. Chronic use of ethanol often leads to the development of neurodegenerative syndromes, which cause morphological and functional impairments such as foetal alcohol syndrome in newborns exposed to ethanol during pregnancy, Wernicke-Korsakoff Syndrome and, more rarely, Marchiafava-Bignami disease (MBD). MBD is characterized by primary degeneration of the corpus callosum, without inflammation and is associated with oxidative stress and hypovitaminosis, as well as altered mental status, to mention dementia, seizures, depression and so on...
February 22, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28220263/characterization-and-outcome-of-41-patients-with-beta-ketothiolase-deficiency-10%C3%A2-years-experience-of-a-medical-center-in-northern-vietnam
#15
Khanh Ngoc Nguyen, Elsayed Abdelkreem, Roberto Colombo, Yuki Hasegawa, Ngoc Thi Bich Can, Thao Phuong Bui, Hai Thanh Le, Mai Thi Chi Tran, Hoan Thi Nguyen, Hung Thanh Trinh, Yuka Aoyama, Hideo Sasai, Seiji Yamaguchi, Toshiyuki Fukao, Dung Chi Vu
Beta-ketothiolase (T2) deficiency is an inherited disease of isoleucine and ketone body metabolism caused by mutations in the ACAT1 gene. Between 2005 and 2016, a total of 41 patients with T2 deficiency were identified at a medical center in northern Vietnam, with an estimated incidence of one in 190,000 newborns. Most patients manifested ketoacidotic episodes of varying severity between 6 and 18 months of age. Remarkably, 28% of patients showed high blood glucose levels (up to 23.3 mmol/L). Ketoacidotic episodes recurred in 43% of patients...
February 20, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28219420/umbilical-cord-care-practices-in-low-and-middle-income-countries-a-systematic-review
#16
Patricia S Coffey, Siobhan C Brown
BACKGROUND: Neonatal sepsis is the third leading cause of deaths for infants in their first month of life. The newly cut umbilical cord can be a pathway for bacteria that can cause newborn sepsis and death. Optimal umbilical cord care practices for newborns and during the first week of life, especially in settings with poor hygiene, has the potential to avoid these preventable neonatal deaths. The purpose of this review of cord care practices is to assist in the development of behavior-change strategies to support introduction of novel cord-care regimens, particularly 7...
February 20, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28196298/human-to-human-transmission-of-brucella-a-systematic-review
#17
REVIEW
Felipe F Tuon, Regina B Gondolfo, Natacha Cerchiari
OBJECTIVE: The most common form of transmitting human brucellosis is through contaminated food or direct contact with infected animals. Human-to-human transmission (HHT) has been described as isolated case reports. The aim of this systematic review was to describe all cases of HHT of human brucellosis reported in the medical literature. METHODS: A literature search was conducted using PubMed, Scopus and Scielo databases using specific search terms published until March 2016...
February 14, 2017: Tropical Medicine & International Health: TM & IH
https://www.readbyqxmd.com/read/28188612/hepatitis-b-immunoglobulin-during-pregnancy-for-prevention-of-mother-to-child-transmission-of-hepatitis-b-virus
#18
REVIEW
Ahizechukwu C Eke, George U Eleje, Uzoamaka A Eke, Yun Xia, Jiao Liu
BACKGROUND: Hepatitis is a viral infection of the liver. It is mainly transmitted between people through contact with infected blood, frequently from mother to baby in-utero. Hepatitis B poses significant risk to the fetus and up to 85% of infants infected by their mothers at birth develop chronic hepatitis B virus (HBV) infection. Hepatitis B immunoglobulin (HBIG) is a purified solution of human immunoglobulin that could be administered to the mother, newborn, or both. HBIG offers protection against HBV infection when administered to pregnant women who test positive for hepatitis B envelope antigen (HBeAg) or hepatitis B surface antigen (HBsAg), or both...
February 11, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28181214/aspirin-single-dose-for-perineal-pain-in-the-early-postpartum-period
#19
REVIEW
Sujana Molakatalla, Emily Shepherd, Rosalie M Grivell
BACKGROUND: Perineal trauma (due to spontaneous tears, surgical incision (episiotomy) or in association with operative vaginal birth) is common after vaginal birth, and is often associated with postpartum perineal pain. Birth over an intact perineum may also lead to perineal pain. There are adverse health consequences associated with perineal pain for the women and their babies in the short- and long-term, and the pain may interfere with newborn care and the establishment of breastfeeding...
February 9, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28179382/jaundice-in-newborn-babies-under-28%C3%A2-days-nice-guideline-2016-cg98
#20
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
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