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https://www.readbyqxmd.com/read/28818272/on-human-parthenogenesis
#1
Gabriel Jose de Carli, Tiago Campos Pereira
Spontaneous parthenogenetic and androgenetic events occur in humans, but they result in tumours: the ovarian teratoma and the hydatidiform mole, respectively. However, the observation of fetiform (ovarian) teratomas, the serependious identification of several chimeric human parthenotes and androgenotes in the last two decades, along with the creation of viable bi-maternal mice in the laboratory based on minor genetic interferences, raises the question of whether natural cases of clinically healthy human parthenotes have gone unnoticed to science...
September 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/28816096/management-of-severe-pulmonary-hemorrhage-in-a-neonate-on-veno-arterial-ecmo-by-the-temporary-clamping-of-the-endotracheal-tube-a-case-report
#2
Vaclab Vobruba, Tomas Grus, Frantisek Mlejnsky, Jan Belohlavek, Jan Hridel, Lukas Lambert
Severe pulmonary hemorrhage in the newborn is an infrequent, but life-threatening, event. A newborn with persistent pulmonary hypertension and a large persistent ductus arteriosus and open foramen ovale presented with hypoxemia and progressive right heart failure shortly after birth, requiring veno-arterial extracorporeal membrane oxygenation (ECMO) support. Twenty minutes after the initiation of ECMO, the patient developed severe pulmonary hemorrhage refractory to conventional treatment. As a last resort, the endotracheal tube was clamped...
August 1, 2017: Perfusion
https://www.readbyqxmd.com/read/28815739/kernicterus-in-a-boy-with-ornithine-transcarbamylase-deficiency-a-case-report
#3
Eduardo López-Corella, Isabel Ibarra-González, Cynthia Fernández-Lainez, Miguel Á Rodríguez-Weber, Sara Guillén-Lopez, Leticia Belmont-Martínez, David Agüero-Linares, Marcela Vela-Amieva
Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle defect associated with severe and usually fatal hyperammonemia. This study describes a patient with early onset lethal OTCD due to a known pathogenic variant (c.298+1G>A), as well as the novel autopsy finding of kernicterus with relatively low blood concentration of unconjugated bilirubin (UCB) (11.55 mg/dL). The patient was a full-term male with a family history of two previous male siblings who died as newborns after acute neurologic deterioration...
August 16, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28814329/severe-persistent-pulmonary-hypertension-of-the-newborn-and-dysmorphic-features-in-neonate-with-a-deletion-involving-twist1-and-phf14-a-case-report
#4
Carina Schinagl, Guro Reinholt Melum, Olaug Kristin Rødningen, Kathrine Bjørgo, Jannicke Hanne Andresen
BACKGROUND: Persistent pulmonary hypertension is a well-known disease of the newborn that in most cases responds well to treatment with nitric oxide and treatment of any underlying causes. Genetic causes of persistent pulmonary hypertension of the newborn are rare. The TWIST1 gene is involved in morphogenetics, and deletions are known to cause Saethre-Chotzen syndrome. Deletions of PHF14 have never been reported in neonates, but animal studies have shown a link between severe defects in lung development and deletions of this gene...
August 17, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28813070/neonatal-hearing-screening-in-primary-health-care-and-family-health-care
#5
José Carlos Sabbag, Adriana Bender Moreira de Lacerda
Purpose: The Universal Newborn Hearing Screening (UNHS) looks for early diagnosis and rehabilitation of newborns at risk or not of hearing impairment. The purpose is analyze the flow of Universal Newborn Hearing Screening in the family health care strategy unit through the tracking and monitoring of children. Methods: This is a quantitative and retrospective study. The trace begins with the third copy of the Live Newborn Declaration, filled in at the maternity ward...
August 10, 2017: CoDAS
https://www.readbyqxmd.com/read/28812467/vessel-perforation-and-false-tracking-resulting-from-umbilical-artery-catheterization-a-case-report-and-literature-review
#6
Surasak Puvabanditsin, Francisco Zaldana, Joseph Raviola, Jeffrey Suell, Karen Hussein, Lauren Walzer, Rajeev Mehta
We report an extremely low-birth-weight neonate who developed umbilical artery perforation and false tracking. There was no life-threatening event relating to the complication. Diagnosis was made at postmortem examination. Little information exists regarding the anatomic and vascular effects of umbilical artery catheterization placement in newborns. We report a new complication of umbilical artery catheterization. We raise the awareness regarding the potential life threat due to this rare but very serious complication...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812466/florid-intussusceptive-like-microvascular-dysangiogenesis-in-a-preterm-lung
#7
Monique E De Paepe, Merline Kocheekkaran V Benny, Lauren Priolo, Francois I Luks, Svetlana Shapiro
The cellular mechanisms underlying the microvascular dysangiogenesis of bronchopulmonary dysplasia (chronic lung disease of the newborn) remain largely undetermined. We report unusual pulmonary vascular findings in a 27-week-gestation male newborn who died on the second day of life from intractable respiratory failure, following a pregnancy complicated by prolonged membrane rupture and persistent severe oligohydramnios. As expected, postmortem examination revealed pulmonary hypoplasia (lung/body weight ratio: 2...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28811156/screening-of-congenital-hypothyroidism-in-preterm-low-birth-weight-and-very-low-birth-weight-neonates-a-systematic-review
#8
REVIEW
Mahin Hashemipour, Silva Hovsepian, Arman Ansari, Mojtaba Keikha, Pooyan Khalighinejad, Negar Niknam
Evidence from different screening programs indicated that the rate of congenital hypothyroidism (CH) was higher in pre-term and low-birth-weight (LBW) newborns than normal ones. Incomplete development of hypothalamic-pituitary axis in this group of neonates results in the delayed rise of TSH and missing cases with CH. Hence, there is a great need for a practicable systematic screening method for proper diagnosis of CH in this group of neonates. In this review, we systematically reviewed papers with the following key words ([Congenital Hypothyroidism AND Screening AND Thyroxine AND Thyroid Stimulating Hormone AND Low Birth Weight AND Premature]) in international electronic databases including PubMed, Scopus, and Google Scholar...
July 22, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28809751/influence-of-topical-iodine-containing-antiseptics-used-during-delivery-on-recall-rate-of-congenital-hypothyroidism-screening-program
#9
Majid Valizadeh, Farzaneh Moezzi, Zohreh Khavassi, Mohammad Movahedinia, Seideh Mazloomzadeh, Ladan Mehran
BACKGROUND: The proportion of newborns recalled during neonatal screening programs for congenital hypothyroidism (CH) varies substantially by country and may be higher in settings where povodine iodine (PVP-I) is used during delivery. We assessed this hypothesis by substituting PVP-I for chlorhexidine (CHL) and evaluated the reduction in the recall rate of the Irainian newborn screening program. METHODS: This study investigated 2282 neonates of mothers admitted to a local hospital for delivery between December 2012 and October 2013...
August 15, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28808495/the-most-frequent-abca3-nonsense-mutation-p-tyr1515-y1515x-causing-lethal-neonatal-respiratory-failure-in-a-term-neonate
#10
AlNashmi AlAnazi, Ralph Epaud, Humariya Heena, Alix de Becdelievre, Abeer Mohammad Miqdad, Pascale Fanen
Defects in the surfactant biosynthesis are associated with respiratory distress syndrome, commonly occurring in premature infants due to lung immaturity. However, interstitial lung diseases have also been observed in full-term infants with mutations in the SFTPC, SFTPB, NKX2-1, or ABCA3 genes, involved in the surfactant metabolism. Herein, we report a newborn baby with neonatal respiratory distress and diffuse lung disease caused by ABCA3 mutation. The baby died at 5 weeks of age after developing pulmonary hypertension...
July 2017: Annals of Thoracic Medicine
https://www.readbyqxmd.com/read/28805956/morphology-and-postnatal-development-of-lower-hindlimbs-in-desmodus-rotundus-chiroptera-phyllostomidae-a-comparative-study
#11
Nicolás Reyes-Amaya, Adriana Jerez, David Flores
The hindlimbs in bats are functionally adapted to serve as a hook to attach to the mother from birth, and to roost during independent life. Although bats exhibit different terrestrial locomotion capabilities involving hindlimbs, hindlimb morphology and postnatal development have been poorly studied. We describe in detail the postnatal development and bone morphology of hindlimbs of the nimble walker vampire bat, Desmodus rotundus, and compare adult characters with the insectivorous Molossus molossus (erratic walker) and the frugivorous Artibeus lituratus (non-walker)...
August 14, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28802630/infantile-hypophosphatasia-combined-with-vitamin-b6-responsive-seizures-and-reticular-formation-lesions-on-magnetic-resonance-imaging-a-case-report
#12
Mitsuharu Fukazawa, Junichiro Tezuka, Momoko Sasazuki, Natsuko Masumoto, Haruhisa Baba, Takehiko Doi, Yasushi Tsutsumi, Yuji Mizuno, Futoshi Mihara, Hideki Nakayama
BACKGROUND: Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit various presentations depending on their age at onset, such as infantile HPP combined with vitamin B6-responsive seizures. CASE PRESENTATION: A newborn with infantile HPP presented with tonic convulsions from day 5 after birth and received intravenous vitamin B6 (10mg/kg/day pyridoxal phosphate)...
August 9, 2017: Brain & Development
https://www.readbyqxmd.com/read/28802360/resolution-of-bilateral-sensorineural-hearing-loss-following-ventriculoperitoneal-shunt-and-literature-review
#13
A Jamshidi, C Glidewell, J Murnick, S Magge, B K Reilly
OBJECTIVE: The purpose of this study is to highlight the relationship between obstructive hydrocephalus, changes in intracranial pressure, and sensorineural hearing loss. METHODS: A case of a 10-month old infant with sensorineural hearing loss secondary to obstructive hydrocephalus is reported. A literature review, with a focus on sensorineural hearing loss in the setting of changes in intracranial pressure, was performed. RESULTS: The authors report the case of a 10-month old infant with metopic and bicoronal craniosynostosis who presented with bilateral moderately severe sensorineural hearing loss after failing newborn hearing screening...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28802248/utility-of-rapid-whole-exome-sequencing-in-the-diagnosis-of-neonatal-niemann-pick-disease-type-c-presenting-with-fetal-hydrops-and-liver-failure
#14
Mersedeh Rohanizadegan, Sarah El-Almery, Anne O'Donnell-Luria, Ivana Mihalek, Peggy Chen, Marilyn Sanders, Kristen Leeman, Megan Cho, Christina Hung, Olaf Bodamer
Rapid whole exome sequencing (rWES) is increasingly used in critically ill newborn infants to inform about diagnosis, clinical management and prognosis. Here we report a male newborn infant with hydrops, pancytopenia and acute liver failure who was listed for liver transplantation. Given the acuity of the presentation, the procedure related morbidity and mortality and lack of diagnosis we employed rWES in the proband and both parents with a turn-around time of 10 business days. rWES returned one maternally inherited, likely pathogenic and one paternally inherited, likely pathogenic variant in NPC1 suggestive of a diagnosis of Niemann Pick disease type C (NPC)...
August 11, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28801146/bh4-deficiency-identified-in-a-neonatal-screening-program-for-hyperphenylalaninemia
#15
Cezar Antonio Abreu de Souza, Michelle Rosa Andrade Alves, Rosangelis Del Lama Soares, Viviane de Cássia Kanufre, Valéria de Melo Rodrigues, Rocksane de Carvalho Norton, Ana Lúcia Pimenta Starling, Marcos José Burle de Aguiar
OBJECTIVES: To show the general prevalence and to characterize tetrahydrobiopterin (BH4) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais (NSPMG). METHODS: Descriptive study of patients with BH4 deficiency identified by the NSPMG. RESULTS: The prevalence found was 2.1 for 1,000,000 live births, with a frequency of 1.71% among hyperphenylalaninemias. There were four cases (40%) with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, three with GTP cyclohydrolase I - autosomal recessive form (GTPCH I) deficiency, and three with dihydropteridine reductase (DHPR) deficiency (30% each)...
August 8, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28801073/newborn-screening-for-carnitine-palmitoyltransferase-ii-deficiency-using-c16-c18-1-c2-evaluation-of-additional-indices-for-adequate-sensitivity-and-lower-false-positivity
#16
Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Satoshi Okada, Nobuo Sakura, Shinsuke Maruyama, Atsuko Noguchi, Tomonari Awaya, Mika Ishige, Nobuyuki Ishige, Ikuma Musha, Sayaka Ajihara, Akira Ohtake, Etsuo Naito, Yusuke Hamada, Tomotaka Kono, Tomoko Asada, Hideo Sasai, Toshiyuki Fukao, Ryoji Fujiki, Osamu Ohara, Ryosuke Bo, Kenji Yamada, Hironori Kobayashi, Yuki Hasegawa, Seiji Yamaguchi, Masaki Takayanagi, Ikue Hata, Yosuke Shigematsu, Masao Kobayashi
BACKGROUND: Carnitine palmitoyltransferase (CPT) II deficiency is one of the most common forms of mitochondrial fatty acid oxidation disorder (FAOD). However, newborn screening (NBS) for this potentially fatal disease has not been established partly because reliable indices are not available. METHODS: We diagnosed CPT II deficiency in a 7-month-old boy presenting with hypoglycemic encephalopathy, which apparently had been missed in the NBS using C16 and C18:1 concentrations as indices...
July 31, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28801056/clinical-evaluation-of-the-new-roche-platform-of-serological-and-molecular-cytomegalovirus-specific-assays-in-the-diagnosis-and-prognosis-of-congenital-cytomegalovirus-infection
#17
Angela Chiereghin, Claudia Pavia, Liliana Gabrielli, Giulia Piccirilli, Diego Squarzoni, Gabriele Turello, Dino Gibertoni, Giuliana Simonazzi, Maria Grazia Capretti, Marcello Lanari, Tiziana Lazzarotto
Clinical evaluation of the Elecsys(®) CMV IgM, IgG, IgG Avidity and COBAS AmpliPrep/COBAS TaqMan CMV (COBAS CMV) assays (Roche Diagnostics AG) in the diagnosis and prognosis of congenital CMV infection was performed. In this study, 150 preselected clinical samples (50 primary infection sera, 50 amniotic fluid [AF] and 50 newborn urine) were processed using Roche serological/molecular CMV-specific tests. Results were compared with those obtained by routine assays (comparator assays). The Elecsys(®) CMV IgM and IgG assays showed a perfect agreement (100%) with the comparator assays...
August 8, 2017: Journal of Virological Methods
https://www.readbyqxmd.com/read/28799705/the-process-of-intrapartum-care-among-skilled-birth-attendants-in-the-dominican-republic-and-maternal-perceptions-of-care-during-labor-and-birth-a-case-report
#18
Peter Schindler, Rosa Burgos, Kimberly Vuong, Hilary Aviela Lerner, Elsa Evangelista, Flor Josefina Rodriguez, Lourdes Peralta Polanco, Jennifer Foster
INTRODUCTION: The World Health Organization calls for situation analyses of maternity settings globally to improve maternal-newborn health. This study evaluated the care processes of skilled birth attendants and women's satisfaction with the care in a public hospital in the Dominican Republic. The purpose of the assessment was to establish a baseline to build quality improvements. METHODS: A cross-sectional, mixed-methods, observational study was conducted by an international team...
August 11, 2017: Journal of Midwifery & Women's Health
https://www.readbyqxmd.com/read/28799081/the-psychosocial-impact-of-carrying-a-debated-variant-in-the-gla-gene
#19
Sarah Macklin, Dawn Laney, Emily Lisi, Andrea Atherton, Elizabeth Smith
The clinical significance of the c.427G>A (p.A143T) variant in GLA is a topic of debate within the lysosomal storage disease community. A review of the literature and published case reports found the clinical impact of the variant to range from classic Fabry symptoms to healthy unaffected males with normal alpha- galactosidase enzyme levels, leaving clinicians unsure of how to manage these individuals. As the number of states testing for Fabry disease on their newborn screening panel has increased, more people with this variant are being identified...
August 10, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28798738/zika-virus-an-emerging-worldwide-threat
#20
Irfan A Rather, Jameel B Lone, Vivek K Bajpai, Woon K Paek, Jeongheui Lim
ZIKA virus (ZIKV) poses a severe threat to the world. Recent outbreaks of ZIKV after 2007 along with its quick transmission have made this virus a matter of international concern. The virus shows symptoms that are similar to those caused in the wake of dengue virus (DENV) and other flaviviruses, which makes it difficult to discern the viral infection. Diagnosis is further complicated as the virus cross-reacts with antibodies of other viruses. Currently, molecular diagnosis of the virus is being performed by RT-PCR and IgM-captured enzyme-linked immunosorbent assay (MAC-ELISA)...
2017: Frontiers in Microbiology
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