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Neonatal diseases

Rafał Podgórski, David Aebisher, Monika Stompor, Dominika Podgórska, Artur Mazur
The aim of this paper is a straightforward presentation of the steroidogenesis process and the most common type of congenital adrenal hyperplasia (CAH) - 21-hydroxylase deficiency - as well as the analytical diagnostic methods that are used to recognize this disease. CAH is a family of common autosomal recessive disorders characterized by impaired adrenal cortisol biosynthesis with associated androgen excess due to a deficiency of one or more enzymes in the steroidogenesis process within the adrenal cortex...
March 15, 2018: Acta Biochimica Polonica
Sophie Vincent, Nicholas Czuzoj-Shulman, Andrea R Spence, Haim A Abenhaim
OBJECTIVE: To examine the association between pre-pregnancy body mass index (BMI) and neonatal respiratory-related outcomes among women who underwent an elective cesarean section (CS). METHODS: A retrospective cohort study was conducted using the Centers for Disease Control and Prevention (CDC)'s 2009-2013 period linked birth/infant death dataset. Women who had elective CSs at term were categorized by their pre-pregnancy BMI as normal, overweight, obese or morbidly obese...
March 15, 2018: Journal of Perinatal Medicine
Gregory J Kato, Frédéric B Piel, Clarice D Reid, Marilyn H Gaston, Kwaku Ohene-Frempong, Lakshmanan Krishnamurti, Wally R Smith, Julie A Panepinto, David J Weatherall, Fernando F Costa, Elliott P Vichinsky
Sickle cell disease (SCD) is a group of inherited disorders caused by mutations in HBB, which encodes haemoglobin subunit β. The incidence is estimated to be between 300,000 and 400,000 neonates globally each year, the majority in sub-Saharan Africa. Haemoglobin molecules that include mutant sickle β-globin subunits can polymerize; erythrocytes that contain mostly haemoglobin polymers assume a sickled form and are prone to haemolysis. Other pathophysiological mechanisms that contribute to the SCD phenotype are vaso-occlusion and activation of the immune system...
March 15, 2018: Nature Reviews. Disease Primers
N A Filatova, N A Knyazev, S O Skarlato, O V Anatskaya, A E Vinogradov
Cryptosporidiosis causes persistent diarrhea in infants, immunocompromised patients and elderly persons. Long-term consequences of the disease include increased risk of malignancy, cardiomyopathy and gastrointestinal inflammation. This study aimed to investigate prolonged effects of cryptosporidiosis on innate immunity and growth in neonatal C3HA mice. The disease was challenged by Cryptosporidium parvum oocyst inoculation into 7-days old animals. The mice whose intestine smears contained 3-5 or 6 and more oocysts per microscopic field at the day 5 after infection were considered as mildly or severely infected, correspondingly...
March 14, 2018: Parasite Immunology
(no author information available yet)
OBJECTIVES: To ascertain the proportion of neonates and infants presenting with suspicion of an inborn error of metabolism in the centers identified by ICMR for newborn screening. METHODS: A set of red flag signs suggestive IEM were listed by the Taskforce members. The age group was limited to one year as it was understood that most of the small molecules with a severe phenotype would present before the age of one year. Further investigations were tandem mass spectrometry, gas chromatography mass spectrometry and high performance liquid chromatography...
March 15, 2018: Indian Journal of Pediatrics
Alireza Sadeghnia, Behzad Koorang Beheshti, Majid Mohammadizadeh
Background: Considering all the latest achievements in neonatal respiratory care, bronchopulmonary dysplasia (BPD) is still among the most prevalent morbidity causes in premature infants. Involvement in this process results in longer period of hospitalization for the newborn and in the long run makes the living conditions more difficult. Taking the multifactorial pathogenesis into account, approaches to tackle chronic lung disease (CLD) are mainly focused on interventions and prevention procedures...
2018: International Journal of Preventive Medicine
Sayyeda Ghazala Irfan Kazi, Emaduddin Siddiqui, Irfan Habib, Saadia Tabassum, Badar Afzal, Irum Qamar Khan
Neonatal Purpura Fulminans is a rare and fatal disorder associated with perivascular haemorrhage and disseminated intravascular coagulation. Early clinical recognition, timely investigation and treatment is utmost important. A 6 days old baby boy was brought to emergency with blackish ulcers all over the body. Initially these were over the feet and scalp but later appeared on the abdomen. On examination, child was vitally stable, mildly icteric and had multiple erythematous large bullous blackish lesions on scalp, lower abdomen, perineum, back and soles...
March 2018: JPMA. the Journal of the Pakistan Medical Association
Francesca Ciuffini, Colin F Robertson, David G Tingay
Chronic respiratory morbidity is a common complication of premature birth, generally defined by the presence of bronchopulmonary dysplasia, both clinically and in trials of respiratory therapies. However, recent data have highlighted that bronchopulmonary dysplasia does not correlate with chronic respiratory morbidity in older children born preterm. Longitudinally evaluating pulmonary morbidity from early life through to childhood provides a more rational method of defining the continuum of chronic respiratory morbidity of prematurity, and offers new insights into the efficacy of neonatal respiratory interventions...
March 31, 2018: European Respiratory Review: An Official Journal of the European Respiratory Society
S Bertolini, A Rosamilia, C Caruso, C Maurella, F Ingravalle, A Quasso, P L Acutis, M Pitti, L Masoero, G Ru
BACKGROUND: Caprine herpesvirus 1 (CpHV-1) causes neonatal mortality and reproductive failure in goats. Despite its impact on herd reproductive performance, few studies have investigated the risk factors associated with CpHV-1 infection. The aim of this cross-sectional study was to identify potential herd- and host-level risk factors associated with CpHV-1 prevalence in a goat population with heterogeneous seropositivity for CpHV-1. RESULTS: Blood samples and individual data from 4542 goats were collected from 255 herds in Piedmont, Italy...
March 14, 2018: BMC Veterinary Research
Elizabeth Hisle-Gorman, Apryl Susi, Theophil Stokes, Gregory Gorman, Christine Erdie-Lalena, Cade M Nylund
OBJECTIVE: We explored the association of 29 previously reported neonatal, perinatal and prenatal conditions and exposures with later diagnosis of ASD in a large sample of children followed over multiple years. STUDY DESIGN: A retrospective case-cohort study was formed using the Military Health System database. Cases were identified by International Classification of Diseases, Ninth Revision (ICD-9) codes for ASD between 2000 and 2013 and were matched 3:1 with controls on sex, date of birth, and enrollment time-frame...
March 14, 2018: Pediatric Research
Laurie G Sherlock, Ashley Trumpie, Laura Hernandez-Lagunas, Sarah McKenna, Susan Fisher, Russell Bowler, Clyde J Wright, Cassidy Delaney, Eva Nozik-Grayck
BACKGROUND: A naturally occurring single nucleotide polymorphism (SNP), (R213 G), in extracellular superoxide dismutase (SOD3), decreases SOD3 matrix binding affinity. Humans and mature mice expressing the R213 G SNP exhibit increased cardiovascular disease but decreased lung disease. The impact of this SNP on the neonatal lung at baseline or with injury is unknown. METHODS: Wild type and homozygous R213 G mice were injected with intraperitoneal bleomycin or phosphate buffered saline (PBS) three times weekly for three weeks and tissue harvested at 22 days of life...
March 14, 2018: Antioxidants (Basel, Switzerland)
Hitomi Aoki
Rest is a regulator of neuronal development and has been suggested to function in maintaining the pluripotent state of embryonic stem cells (ESCs); however, this remains controversial. Since Rest null mice show embryonic lethality, we herein generated conditional Rest knockout (CKO) models to investigate Rest functions in more detail. Our results revealed that Rest was not necessary for maintaining the pluripotency of ESCs and instead promoted primitive endoderm differentiation. In contrast to the repressive role of Rest in vitro, including ESCs, neural stem cells, and fibroblasts, on the expression of target neural genes, Rest CKO did not affect the in vivo development of brain tissue...
March 13, 2018: Medical Molecular Morphology
Efrain Riveros-Perez, Amy C Hermesch, Linda A Barbour, Joy L Hawkins
Aplastic anemia is a hematologic condition occasionally presenting during pregnancy. This pathological process is associated with significant maternal and neonatal morbidity and mortality. Obstetric and anesthetic management is challenging, and treatment requires a coordinated effort by an interdisciplinary team, in order to provide safe care to these patients. In this review, we describe the current state of the literature as it applies to the complexity of aplastic anemia in pregnancy, focusing on pathophysiologic aspects of the disease in pregnancy, as well as relevant obstetric and anesthetic considerations necessary to treat this challenging problem...
2018: International Journal of Women's Health
Diego Ossandón, Mario Zanolli, Ricardo Stevenson, Ricardo Agurto, Paula Ortiz, Gad Dotan
PURPOSE: To report the results of retinopathy of prematurity (ROP) screening by a telemedicine system in Chile and evaluate its usefulness for referring patients who require treatment. METHODS: Premature infants at risk of developing ROP from 11 neonatal intensive care units were included. Screening was performed on all infants born at a gestational age of <32 weeks and/or birth weight of <1500 g. A trained nonphysician operator used an imaging system to capture retinal images, which were reviewed by two independent ROP experts...
March 10, 2018: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Peiying Liu, Ying Qi, Zixuan Lin, Qiyong Guo, Xiaoming Wang, Hanzhang Lu
Abnormal cerebral blood flow (CBF) is implicated in several neonatal and infant diseases. However, measurement of CBF in this population remains difficult and has not been used in routine clinical MRI. Arterial spin labeling (ASL) methods suffer from both low SNR and poor quantification when applied to very young children. Furthermore, rapid change in brain physiology in this age range makes it difficult to choose sequence parameters such as labeling pulse flip angle and post labeling delay. Phase-contrast (PC) MRI is another approach to measure flow...
March 10, 2018: NeuroImage
Ángel Sánchez-Illana, Anna Parra-Llorca, Diana Escuder-Vieco, Carmen Rosa Pallás-Alonso, María Cernada, María Gormaz, Máximo Vento, Julia Kuligowski
Oxidative stress derived biomarkers have been extensively studied for assessing pathological situations in the neonatal period and their usefulness for an early outcome prediction of oxidative stress related diseases in non-invasive biofluids could be demonstrated. This is the first report on a method for the simultaneous detection of a panel of oxidative stress related biomarkers for quantifying damage to proteins and DNA in human breast milk samples. A straightforward sample clean-up procedure using 1.5 mL of milk was developed and extracts were analyzed by ultra-performance liquid chromatography coupled to tandem mass spectrometry...
August 3, 2018: Analytica Chimica Acta
B Lisowska-Myjak, E Skarżyńska, M Bakun
Intrauterine environmental factors can be associated with perinatal complications and long-term health outcomes although the underlying mechanisms remain poorly defined. Meconium formed exclusively in utero and passed naturally by a neonate may contain proteins which characterise the intrauterine environment. The aim of the study was proteomic analysis of the composition of meconium proteins and their classification by biological function. Proteomic techniques combining isoelectrofocussing fractionation and LC-MS/MS analysis were used to study the protein composition of a meconium sample obtained by pooling 50 serial meconium portions from 10 healthy full-term neonates...
March 14, 2018: Journal of Developmental Origins of Health and Disease
Q Y Lao, M Sun, L Yu, J Wang
Objective: To investigate the clinicopathological characteristics and differential diagnosis of lipofibromatosis. Methods: The clinicopathological features and immunohistochemical profiles in 8 cases of lipofibromatosis diagnosed at Fudan University Shanghai Cancer Center from January 2008 to June 2017 were studied. Molecular analysis of β-catenin mutation by Sanger sequencing, NTKR1 and ETV6 rearrangements by FISH were performed. The follow up information was evaluated and the literature was reviewed. Results: There were 4 males and 4 females with a median age of 1...
March 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
Karl-Heinz Deeg
Prenatal, neonatal meningoencephalitis and infections of the brain in older infants are often associated with serious complications which can be diagnosed by sonography through the open fontanelles. Most frequently postmeningitic hydrocephalus and subdural effusions occur. Rarer complications are brain abscesses and ventriculitis which are caused by gram negative bacteria such as E. coli, Serratia marcescens, Proteus and Enterobacter. A serious complication after ventriculitis is the development of compartment hydrocephalus...
March 13, 2018: Ultraschall in der Medizin
Elżbieta Pac-Kożuchowska, Anna Rakuś-Kwiatosz, Paulina Krawiec
BACKGROUND: Atherosclerosis may originate during the fetal period, therefore it is reasonable to identify early risk markers of lifestyle diseases. OBJECTIVES: The aim of the study was to determine the relationship between fetal and maternal factors, and the neonatal cord blood lipid profile in term newborns. MATERIAL AND METHODS: In the study group, there were 206 healthy Polish newborns. Newborn characteristics included sex, gestational age at birth, Apgar score, and anthropometric data (weight and length at birth, neonatal ponderal index, head, chest and abdominal circumferences, placenta weight, and placental-fetal weight ratio)...
March 13, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
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