keyword
https://read.qxmd.com/read/38563533/outcomes-after-newborn-screening-for-propionic-and-methylmalonic-acidemia-and-homocystinurias
#21
JOURNAL ARTICLE
Anna T Reischl-Hajiabadi, Elena Schnabel, Florian Gleich, Katharina Mengler, Martin Lindner, Peter Burgard, Roland Posset, Svenja Lommer-Steinhoff, Sarah C Grünert, Eva Thimm, Peter Freisinger, Julia B Hennermann, Johannes Krämer, Gwendolyn Gramer, Dominic Lenz, Stine Christ, Friederike Hörster, Georg F Hoffmann, Sven F Garbade, Stefan Kölker, Ulrike Mütze
The current German newborn screening (NBS) panel includes 13 inherited metabolic diseases (IMDs). In addition, a NBS pilot study in Southwest Germany identifies individuals with propionic acidemia (PA), methylmalonic acidemia (MMA), combined and isolated remethylation disorders (e.g., cobalamin [cbl] C and methylenetetrahydrofolate reductase [MTHFR] deficiency), cystathionine β-synthase (CBS) deficiency, and neonatal cbl deficiency through one multiple-tier algorithm. The long-term health benefits of screened individuals are evaluated in a multicenter observational study...
April 2, 2024: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/38549357/effect-of-vitamin-e-supplementation-on-bilirubin-levels-in-infants-with-hyperbilirubinemia-a-double-blind-randomized-clinical-trial
#22
JOURNAL ARTICLE
Mojtaba Cheraghi, Maziar Nikouei, Majid Mansouri, Siros Hemmatpour, Yousef Moradi
BACKGROUND: The effect of vitamin E supplementation on bilirubin levels in infants was previously explored, but the results were inconclusive. PURPOSE: To examine the effect of vitamin E supplementation on bilirubin levels in term infants in the neonatal intensive care unit (NICU). METHODS: This interventional double-blind randomized clinical trial was conducted in the Sanandaj Besat Hospital NICU. Enrolled newborns were between 37 and 42 weeks and 6 days of gestation and required phototherapy according to American Academy of Pediatrics clinical guidelines...
March 26, 2024: Clinical and experimental pediatrics
https://read.qxmd.com/read/38545275/complementary-feeding-in-infants-born-preterm-aspects-needing-improvement
#23
JOURNAL ARTICLE
Marta Meneghelli, Silvia Toniazzo, Elena Priante, Maria Elena Cavicchiolo, Francesca De Terlizzi, Paola Gaio, Paolo Spinella, Giovanna Verlato
OBJECTIVE: The aim of our study was to collect data on complementary feeding (CF) in preterm infants (PIs). METHODS: We enrolled PI ≤ 34 weeks of gestational age discharged from the neonatal intensive care unit (NICU) of the University Hospital of Padova. At 12 months of corrected age (CA), CF was investigated with questionnaires to the parents and a 24-h dietary recall. In a subgroup of newborns, we also evaluated bone status at a CA of 12 months using quantitative ultrasound...
February 2024: JPGN reports
https://read.qxmd.com/read/38542149/pyridoxal-5-phosphate-biosynthesis-by-pyridox-am-ine-5-phosphate-oxidase-species-specific-features
#24
REVIEW
Maribel Rivero, Nerea Novo, Milagros Medina
Enzymes reliant on pyridoxal 5'-phosphate (PLP), the metabolically active form of vitamin B6 , hold significant importance in both biology and medicine. They facilitate various biochemical reactions, particularly in amino acid and neurotransmitter metabolisms. Vitamin B6 is absorbed by organisms in its non-phosphorylated form and phosphorylated within cells via pyridoxal kinase (PLK) and pyridox-(am)-ine 5'-phosphate oxidase (PNPOx). The flavin mononucleotide-dependent PNPOx enzyme converts pyridoxine 5'-phosphate and pyridoxamine 5'-phosphate into PLP...
March 9, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38540656/association-of-serum-calcium-levels-of-preterm-neonates-at-birth-with-calcium-intake-from-foods-and-supplements-by-bedridden-women-during-pregnancy
#25
JOURNAL ARTICLE
Aristea Gioxari, Panos Papandreou, Efstratia Daskalou, Andriana C Kaliora, Maria Skouroliakou
Bone calcium turnover is aggravated in pregnant women recommended to bed rest. In the present cross-sectional study, we aimed to clarify whether preterm neonates would benefit from calcium supplementation during pregnancy. Forty-two mothers (37.5 ± 6.7 years), recommended bed rest at home, and 42 preterm neonates (24-37 weeks gestational age) were enrolled. Neonates' serum calcium was quantified at birth. Mothers' calcium intake from foods and supplements during pregnancy was assessed. Serum 25-OH-D was measured in both mothers and neonates at birth...
March 20, 2024: Healthcare (Basel, Switzerland)
https://read.qxmd.com/read/38539363/intermittent-high-dose-vitamin-d3-administration-in-neonates-with-multiple-comorbidities-and-vitamin-d-insufficiency
#26
JOURNAL ARTICLE
Catalin Cirstoveanu, Iulia Ionita, Carmina Georgescu, Carmen Heriseanu, Corina Maria Vasile, Mihaela Bizubac
BACKGROUND: Neonates have an increased risk of vitamin D insufficiency due to the inadequate supplementation of mothers and infants after birth. Insufficiency of vitamin D is frequently detected in critically ill patients and is associated with disease severity and mortality. There is yet to be a consensus on the appropriate regimen of vitamin D3 supplementation in high-risk infants. AIM: The main objectives of this study were to determine the prevalence of vitamin D insufficiency in neonates with severe comorbidities and to evaluate whether high-dose vitamin D3 oral administration leads to normal plasmatic concentrations without side effects...
March 9, 2024: Children
https://read.qxmd.com/read/38533276/primary-hyperparathyroidism-in-young-and-adolescents-alike-or-unlike-adult-hyperparathyroidism-a-series-from-south-india
#27
JOURNAL ARTICLE
Dhalapathy Sadacharan, Smitha S Rao, Shriraam Mahadevan, G Shanmugasundar, S Murthy, Shruti Chandrashekaran, Vijay Bhaskar Reddy, Bharath Ramji
BACKGROUND: Primary hyperparathyroidism (PHPT) is a common endocrine condition but rare in the pediatric and adolescent populations. The presentations can be unique, accounting for significant morbidity in the case of untimely detection. AIM: To study surgically treated pediatric PHPT retrospectively. METHODS: Surgically treated children of PHPT up to 20 years of age between 2010 to 2022 were analyzed. All of them were operated on by an endocrine surgeon and team...
2024: Indian Journal of Endocrinology and Metabolism
https://read.qxmd.com/read/38527735/use-of-thiamine-supplementation-in-pregnant-women-diagnosed-with-hyperemesis-gravidarum-and-wernicke-encephalopathy
#28
JOURNAL ARTICLE
Angela Feagan Clark
Hyperemesis gravidarum is the most common condition requiring hospital care for women during the first 20 weeks of pregnancy and may lead to malnutrition, dehydration, and vitamin deficiencies. Depletion of vitamins such as thiamine may result in the development of Wernicke encephalopathy, a severe neurological disorder that can increase the risk for mortality and morbidity for the mother and fetus. A lack of awareness regarding the relationship of hyperemesis gravidarum and Wernicke encephalopathy may result in delayed treatment and disease management...
March 22, 2024: Nursing for Women's Health
https://read.qxmd.com/read/38523015/correlation-of-vitamin-a-levels-in-umbilical-cord-blood-with-neonatal-pulmonary-diseases
#29
JOURNAL ARTICLE
Yu Wei, Hong-Liang Zhang, Ya-Zhou Sun, Jin-Peng Yang, Shu-Jun Li
OBJECTIVE: To study the relationship between umbilical cord blood vitamin A (VA) and neonatal lung diseases and explore the impact of umbilical cord blood VA on neonatal lung diseases. METHOD: Umbilical vein blood was collected at birth, and its VA content was measured. According to the VA levels in umbilical cord blood, a VA deficiency (VAD) group, a marginal deficiency group and a normal group were created and followed up until 28 days after birth. RESULTS: The umbilical cord blood VA level in the neonatal group with lung disease was 0...
March 15, 2024: Pediatrics and Neonatology
https://read.qxmd.com/read/38511756/does-dietary-total-antioxidant-capacity-relate-to-oxidative-stress-levels-in-water-immersion-during-labor-a-case-control-study
#30
JOURNAL ARTICLE
Tuğba Küçükkasap Cömert, Seval Yılmaz Ergani, Meltem Uğurlu, Funda Akpınar
OBJECTIVE: The aim of this study was to investigate the effect of water immersion during the first stage of labor on maternal and neonatal oxidative stress and the association between serum and dietary total antioxidant capacity. METHODS: Women were divided into two groups: those immersed in water during the first stage of labor (n=30) and those who had conventional birth (n=33). Total oxidative stress and total antioxidant status levels were examined in antepartum and postpartum maternal serum and neonatal cord blood samples...
2024: Revista da Associação Médica Brasileira
https://read.qxmd.com/read/38477546/reference-values-for-serum-calcium-in-neonates-should-be-established-in-a-population-of-vitamin-d-replete-subjects
#31
JOURNAL ARTICLE
Lucie Levaillant, Agnès Linglart, Vincent Gajdos, Alexandra Benachi, Jean-Claude Souberbielle
INTRODUCTION: Serum calcium is frequently measured during the neonatal period, and is known to be influenced by the vitamin D status. We hypothesized that the 25OHD concentration may influence the lower limit of the serum calcium normal range in neonates. METHODS: We included in our prospective cohort study 1002 mother-newborn pair recruited from April 2012 to July 2014, in two centers located in the neighborhoods of Paris, France, whose serum calcium was measured at 3 days of life...
March 13, 2024: Journal of Clinical Endocrinology and Metabolism
https://read.qxmd.com/read/38474827/high-initial-dose-of-monitored-vitamin-d-supplementation-in-preterm-infants-hidvid-trial-study-protocol-for-a-randomized-controlled-study
#32
JOURNAL ARTICLE
Dominika Paw, Renata Bokiniec, Alicja Kołodziejczyk-Nowotarska
Vitamin D deficiency can escalate prematurity bone disease in preterm infants and negatively influence their immature immunology system. Infants born at 24 + 0/7 weeks to 32 + 6/7 weeks of gestation will be considered for inclusion. Cord or vein blood samples will be obtained within 48 h after birth for 25-hydroxyvitamin D level measurements. Parathyroid hormone and interleukin-6 levels will be measured. Infants will be randomized to the monitored group (i.e., an initial dose of 1000 IU/day and possible modification) or the controlled group (i...
February 29, 2024: Nutrients
https://read.qxmd.com/read/38471485/serum-calcium-normal-range-in-1000-term-newborns
#33
JOURNAL ARTICLE
Lucie Levaillant, Agnès Linglart, Emmanuelle Letamendia, Claire Boithias, Samra Ouaras-Lounis, Patrice Thérond, Anne-Sophie Lambert, Mathieu Levaillant, Jean-Claude Souberbielle, Alexandra Benachi, Vincent Gajdos
INTRODUCTION: Serum calcium rapidly declines at birth because of the sudden interruption of the maternal-fetal calcium influx. Several factors are known to influence serum calcium in the first days of life, including circulating concentrations of maternal vitamin D. Objective was to establish the normal range variations of neonatal serum calcium according to the French current vitamin D supplementation during pregnancy, i.e. 100,000 IU of cholecalciferol during the third trimester. METHODS: We included in our prospective cohort study 1002 mother-newborn dyads from, with recruitments from April 2012 to July 2014 in France, in two recruiting centers located in Paris neighborhoods...
March 12, 2024: Hormone Research in Pædiatrics
https://read.qxmd.com/read/38469401/emerging-therapeutic-strategies-in-hypoxic-ischemic-encephalopathy-a-focus-on-cognitive-outcomes
#34
REVIEW
Kethely L Marques, Victor Rodrigues, Cassiana T N Balduci, Guilherme C Montes, Penha C Barradas, Marta C Cunha-Rodrigues
Perinatal hypoxia-ischemia represents a significant risk to CNS development, leading to high mortality rates, diverse damages, and persistent neurological deficits. Despite advances in neonatal medicine in recent decades, the incidence of HIE remains substantial. Motor deficits can manifest early, while cognitive impairments may be diagnosed later, emphasizing the need for extended follow-up. This review aims to explore potential candidates for therapeutic interventions for hypoxic-ischemic encephalopathy (HIE), with a focus on cognitive deficits...
2024: Frontiers in Pharmacology
https://read.qxmd.com/read/38463082/a-case-report-of-molybdenum-cofactor-deficiency-type-a-the-first-case-diagnosed-in-syria
#35
Haidara Kardah, Hamza Al-Zoubi, Zahra Odeh, Ranim Joumaa, Diana Alasmar
INTRODUCTION: Molybdenum cofactor deficiency (MoCD) type A, a rare mitochondrial disorder with characteristic clinical presentation and imaging findings, is one of the forms of molybdenum cofactor deficiency. It presents with seizures, psychomotor delay, and breastfeeding difficulties. Seizures are especially prominent in patients with MoCD. CASE PRESENTATION: A 3-month-old girl presented with refractory generalized tonic-clonic seizures since the third day of life...
March 2024: Annals of Medicine and Surgery
https://read.qxmd.com/read/38440183/importance-of-genetic-sequencing-studies-in-managing-chronic-neonatal-diarrhea-a-case-report-of-a-novel-variant-in-the-glucose-galactose-transporter-slc5a1
#36
Lizbeth López-Mejía, Sara Guillén-Lopez, Marcela Vela-Amieva, Rosalía Santillán-Martínez, Melania Abreu, María Dolores González-Herrra, Rubicel Díaz-Martínez, Juan Gaspar Reyes-Magaña
INTRODUCTION: Congenital glucose-galactose malabsorption (CGGM) is a rare autosomal recessive disorder that primarily causes chronic intractable diarrhea. This study aims to describe the clinical history, laboratory profile, diagnostic workflow, and management of the first patient reported with CGGM in Mexico. METHODS: The case involves a Mexican female infant with recurrent admissions to the emergency room since birth due to chronic diarrhea. RESULTS: The infant was born at term by C-section with a birth weight of 3...
2024: Frontiers in Pediatrics
https://read.qxmd.com/read/38437199/do-timing-and-frequency-of-antenatal-care-make-a-difference-in-maternal-micronutrient-intake-and-breastfeeding-practices-insights-from-a-multi-country-study-in-south-asia
#37
JOURNAL ARTICLE
Md Jahirul Islam, Khondker Mohammad Zobair
Despite the established benefits of vitamins and minerals for maternal and neonatal health, global micronutrient deficiency remains a significant concern. As such, the World Health Organization advocates timely antenatal care (ANC) initiation and micronutrient supplementation for expectant mothers. This study investigates the association between ANC timing and frequency and maternal health behaviours, specifically iron-folic acid (IFA) intake, early breastfeeding initiation, and exclusive breastfeeding among married women in South Asia...
2024: PLOS Glob Public Health
https://read.qxmd.com/read/38413919/assessment-of-vitamin-status-%C3%A2-a-e-and-d-in-egyptian-neonates-with-iugr-a-cross-sectional-study
#38
JOURNAL ARTICLE
Hanaa Reyad Abdallah, Abderahman A Abdelrazek, Eman Refaat Youness, Hisham A Orban, Marwa A Mahmoud, Ahmed Helal El Sayed, Moushira Zaki
BACKGROUND: Neonates with intrauterine growth retardation (IUGR) may present with fatal complications and permanent serious consequences. Vitamin status may influence fetal development. In this study we assessed vitamin A, E and D concentrations in umbilical cord blood in newborns with IUGR. METHODS: Maternal data were obtained. Neonatal assessment included; age of gestation calculated from last menstrual period, Ultrasound (U/S), new Ballard, Apgar scores and anthropometric measurements including; Head circumference, length and weight...
February 28, 2024: BMC Pediatrics
https://read.qxmd.com/read/38409298/publisher-correction-genetic-correlates-of-vitamin-d-binding-protein-and-25-hydroxyvitamin-d-in-neonatal-dried-blood-spots
#39
Clara Albiñana, Zhihong Zhu, Nis Borbye-Lorenzen, Sanne Grundvad Boelt, Arieh S Cohen, Kristin Skogstrand, Naomi R Wray, Joana A Revez, Florian Privé, Liselotte V Petersen, Cynthia M Bulik, Oleguer Plana-Ripoll, Katherine L Musliner, Esben Agerbo, Anders D Børglum, David M Hougaard, Merete Nordentoft, Thomas Werge, Preben Bo Mortensen, Bjarni J Vilhjálmsson, John J McGrath
No abstract text is available yet for this article.
February 26, 2024: Nature Communications
https://read.qxmd.com/read/38401771/the-presence-of-white-cell-jordan-s-anomaly-in-multiple-acyl-coa-dehydrogenase-deficiency-a-case-report-and-implications-for-clinical-practice
#40
Ji Liu, Wenpeng Ni, Kunyi Deng, Yanhui Chen, Guanghong Gu
BACKGROUND: Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), also known as Glutaric Aciduria Type II, is an exceptionally rare autosomal recessive genetic disorder that disrupts the metabolism of fatty acids, amino acids, and choline. It presents with a wide range of clinical manifestations, from severe neonatal-onset forms to milder late-onset cases, with symptoms including metabolic disturbances and muscle weakness. Jordan's anomaly is a distinctive morphological feature found in peripheral blood white cells and is typically associated with Neutral Lipid Storage Disease (NLSD)...
February 22, 2024: Clinical Biochemistry
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