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neonatal autopsy

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https://www.readbyqxmd.com/read/28525974/pancreas-and-gallbladder-agenesis-in-a-newborn-with-semilobar-holoprosencephaly-a-case-report
#1
Robert Hilbrands, Kathelijn Keymolen, Alex Michotte, Miriam Marichal, Filip Cools, Anieta Goossens, Peter In't Veld, Jean De Schepper, Andrew Hattersley, Harry Heimberg
BACKGROUND: Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development. CASE PRESENTATION: We report a case of a Caucasian female with complete pancreatic agenesis occurring together with semilobar holoprosencephaly (HPE), a more common brain developmental disorder. Clinical findings were later confirmed by autopsy, which also identified agenesis of the gallbladder...
May 19, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28497716/polyglucosan-bodies-in-placental-extravillious-trophoblast-for-the-diagnosis-of-fatal-perinatal-neuromuscular-type-glycogen-storage-disease-type-iv
#2
Weiming Yu, Marie-Anne Brundler, James R Wright
The fatal infantile neuromuscular type is the most severe form of glycogen storage disease type IV. We report a case of a 22-day-old female neonate born at 34 weeks gestation with polyhyramnios, fetal hydrops, and severe hypotonia. Placental examination revealed numerous periodic acid schiff (PAS)-positive diastase-resistant polyglucosan bodies in the cytoplasm of extravillous trophoblast predominantly in the placental basal plate. Muscle biopsy and autopsy findings supported a diagnosis of neuromuscular-type glycogen storage disease IV with extensive involvement of skeletal muscle, heart, and liver...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28470389/neonatal-imaging-using-an-on-site-small-footprint-mr-scanner
#3
Stephanie L Merhar, Jean A Tkach, Jason C Woods, Andrew P South, Emily L Wiland, Mantosh S Rattan, Charles L Dumoulin, Beth M Kline-Fath
With its soft-tissue definition, multiplanar capabilities and advanced imaging techniques, magnetic resonance imaging (MRI) for neonatal care can provide better understanding of pathology, allowing for improved care and counseling to families. However, MR imaging in neonates is often difficult due to patient instability and the complex support necessary for survival. In our institution, we have installed a small footprint magnet in the neonatal intensive care unit (NICU) to minimize patient risks and provide the ability to perform MR imaging safely in this population...
May 3, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28464403/seasonal-variation-in-child-mortality-in-rural-guinea-bissau
#4
Bibi Uhre Nielsen, Stine Byberg, Peter Aaby, Amabelia Rodrigues, Christine Stabell Benn, Ane Baerent Fisker
OBJECTIVES: In many African countries, child mortality is higher in the rainy season than in the dry season. We investigated the effect of season on child mortality by time periods, sex, and age in rural Guinea-Bissau. METHODS: Bandim health project follows children under-five in a health and demographic surveillance system in rural Guinea-Bissau. We compared the mortality in the rainy season (June to November) between 1990 and 2013 with the mortality in the dry season (December to May) in Cox proportional hazards models providing rainy versus dry season mortality rate ratios (r/d-mrr)...
May 2, 2017: Tropical Medicine & International Health: TM & IH
https://www.readbyqxmd.com/read/28419096/determinants-of-neonatal-mortality-in-rural-northern-ethiopia-a-population-based-nested-case-control-study
#5
Robel Yirgu, Mitike Molla, Lynn Sibley
INTRODUCTION: In low income and middle income countries, neonatal mortality remains high despite the gradual reduction in under five mortality. Newborn death contributes for about 38% of all under five deaths. This study has identified the magnitude and independent predictors of neonatal mortality in rural Ethiopia. METHODS: This population based nested case control study was conducted in rural West Gojam zone, Northern Ethiopia, among a cohort of pregnant women who gave birth between March 2011 and Feb 2012...
2017: PloS One
https://www.readbyqxmd.com/read/28413926/dusp-1-gene-expression-is-not-regulated-by-promoter-methylation-in-diabetes-associated-cardiac-hypertrophy
#6
Gurinder Bir Singh, Sanskriti Khanna, Satish K Raut, Saurabh Sharma, Rajni Sharma, Madhu Khullar
BACKGROUND: The exact mechanism causing decreased expression of the dual specific phosphatase-1 ( DUSP-1) gene in diabetes-associated cardiac hypertrophy is not known. DNA promoter methylation is often associated with decreased gene expression in many diseases including cardiovascular diseases. So, we investigated whether epigenetic silencing via promoter methylation is involved in the decreased expression of DUSP-1 in diabetes-associated cardiac hypertrophy. METHODS: Real-time polymerase chain reaction (PCR) and Western blotting confirmed the down regulation of the DUSP-1 gene at transcriptional and translational levels...
April 1, 2017: Therapeutic Advances in Cardiovascular Disease
https://www.readbyqxmd.com/read/28398679/ebola-virus-disease-and-pregnancy-a-review-of-the-current-knowledge-of-ebola-virus-pathogenesis-maternal-and-neonatal-outcomes
#7
REVIEW
Lisa M Bebell, Titilope Oduyebo, Laura E Riley
The 2014 to 2016 Ebola virus disease (EVD) outbreak in West Africa devastated local health systems and caused thousands of deaths. Historical reports from Zaire ebolavirus outbreaks suggested pregnancy was associated with an increased risk of severe illness and death, with mortality rates from 74 to 100%. In total, 111 cases of pregnant patients with EVD are reported in the literature, with an aggregate maternal mortality of 86%. Pregnancy-specific data published from the recent outbreak include four small descriptive cohort studies and five case reports...
March 15, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28382839/abnormal-muscularization-of-intra-acinar-pulmonary-arteries-in-2-cases-presenting-as-sudden-infant-death-sids
#8
Zainun Khairul, Hope Kirsten, Andrew G Nicholson, Marta C Cohen
Abnormal muscularization of acinar arteries is the hallmark of persistent pulmonary hypertension of newborn (PPHN), an uncommon disease with high rate of morbidity and mortality. PPHN presents with signs of respiratory distress immediately following birth. We herein report 2 cases presenting as a witnessed sudden unexpected death in the late neonatal period, preceded by respiratory deterioration and in whom the presence of abnormal muscularization of the acinar pulmonary arteries was reminiscent of PPHN. The significance of this report is twofold: to increase the awareness among pediatricians and pathologists of this feature that can present in some cases of sudden unexpected death in infancy/Sudden Infant Death Syndrome (SIDS), and to highlight the importance of performing a thorough autopsy in order to identify the abnormality...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28378502/infant-pacifiers-for-reduction-in-risk-of-sudden-infant-death-syndrome
#9
REVIEW
Kim Psaila, Jann P Foster, Neil Pulbrook, Heather E Jeffery
BACKGROUND: Sudden infant death syndrome (SIDS) has been most recently defined as the sudden unexpected death of an infant less than one year of age, with onset of the fatal episode apparently occurring during sleep, that remains unexplained after a thorough investigation, including the performance of a complete autopsy and a review of the circumstances of death and clinical history. Despite the success of several prevention campaigns, SIDS remains a leading cause of infant mortality...
April 5, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28366171/4d-music-cmr-value-based-imaging-of-neonates-and-infants-with-congenital-heart-disease
#10
Kim-Lien Nguyen, Fei Han, Ziwu Zhou, Daniel Z Brunengraber, Ihab Ayad, Daniel S Levi, Gary M Satou, Brian L Reemtsen, Peng Hu, J Paul Finn
BACKGROUND: 4D Multiphase Steady State Imaging with Contrast (MUSIC) acquires high-resolution volumetric images of the beating heart during uninterrupted ventilation. We aim to evaluate the diagnostic performance and clinical impact of 4D MUSIC in a cohort of neonates and infants with congenital heart disease (CHD). METHODS: Forty consecutive neonates and infants with CHD (age range 2 days to 2 years, weight 1 to 13 kg) underwent 3.0 T CMR with ferumoxytol enhancement (FE) at a single institution...
April 3, 2017: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/28334811/causes-and-predictors-of-neonatal-post-neonatal-and-maternal-deaths-in-india-analysis-of-a-nationwide-district-level-household-survey-4-dlhs-4-2012-13
#11
Jaya P Tripathy, Sanskruti Mishra
Introduction: There is lack of reliable mortality estimates in India about maternal, neonatal and infant deaths. As we move towards achieving the targets under Sustainable Development Goals, information on cause of death is essential to prioritize our resources and planning. Therefore, the present study describes the causes and characteristics of neonatal, post-neonatal and maternal deaths in India. Methods: The study analysed nationwide District-Level Household Survey-4 conducted by the Ministry of Health and Family Welfare, Government of India, in 2014...
March 2, 2017: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/28325959/perinatal-mortality-associated-with-positive-postmortem-cultures-for-common-oral-flora
#12
Mai He, Alison R Migliori, Patricia Lauro, C James Sung, Halit Pinar
Introduction. To investigate whether maternal oral flora might be involved in intrauterine infection and subsequent stillbirth or neonatal death and could therefore be detected in fetal and neonatal postmortem bacterial cultures. Methods. This retrospective study of postmortem examinations from 1/1/2000 to 12/31/2010 was searched for bacterial cultures positive for common oral flora from heart blood or lung tissue. Maternal age, gestational age, age at neonatal death, and placental and fetal/neonatal histopathological findings were collected...
2017: Infectious Diseases in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28322850/absence-of-functional-fetal-regulatory-t-cells-in-humans-causes-in-utero-organ-specific-autoimmunity
#13
Eric J Allenspach, Laura S Finn, Mara H Rendi, Ahmet Eken, Akhilesh K Singh, Mohamed Oukka, Sean D Taylor, Matthew C Altman, Corinne L Fligner, Hans D Ochs, David J Rawlings, Troy R Torgerson
No abstract text is available yet for this article.
March 16, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28302247/symptomatic-fetal-type-cardiac-rhabdomyoma
#14
Seyma Kayali, Vehbi Dogan, Nilüfer Arda, Murat Koç, Ilker Ertugrul, Senem Özgür, Utku Arman Örün, Selmin Karademir
Rhabdomyomas are the most common primary cardiac tumors, especially seen during early periods of childhood. Fetaltype rhabdomyoma is a benign tumor described almost always in extracardiac locations. Although the natural history of the cardiac rhabdomyoma is to regress, the behaviour of the fetal-type rhabdomyomas when present in the heart is unknown with respect to its infrequency. Herein, we report a hemodynamically unstable female neonate with a single large intra-cardiac mass unresponsive to medical treatment, who underwent surgery...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28295150/cause-of-and-factors-associated-with-stillbirth-a-systematic-review-of-classification-systems
#15
REVIEW
Mamuda Aminu, Sarah Bar-Zeev, Nynke van den Broek
INTRODUCTION: An estimated 2.6 million stillbirths occur worldwide each year. A standardized classification system setting out possible cause of death and contributing factors is useful to help obtain comparative data across different settings. We undertook a systematic review of stillbirth classification systems to highlight their strengths and weaknesses for practitioners and policymakers. MATERIAL AND METHODS: We conducted a systematic search and review of the literature to identify the classification systems used to aggregate information for stillbirth and perinatal deaths...
May 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28276303/abnormal-muscularization-of-intra-acinar-pulmonary-arteries-in-two-cases-presenting-as-sudden-infant-death
#16
Khairul Zainun, Kirsten Hope, Andrew G Nicholson, Marta C Cohen
Abnormal muscularization of acinar arteries is the hallmark of persistent pulmonary hypertension of newborn (PPHN), an uncommon disease with high rate of morbidity and mortality. PPHN presents with signs of respiratory distress immediately following birth. We herein report 2 cases presenting as a witnessed sudden unexpected death in the late neonatal period, preceded by respiratory deterioration and in whom the presence of abnormal muscularization of the acinar pulmonary arteries was reminiscent of PPHN. The significance of this report is twofold: to increase the awareness among pediatricians and pathologists of this feature that can present in some cases of Sudden Unexpected Death in Infancy/Sudden Infant Death Syndrome, and to highlight the importance of performing a thorough autopsy in order to identify the abnormality...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28248119/familial-hemophagocytic-lymphohistiocytosis-from-autopsy-to-prenatal-diagnosis-report-of-a%C3%A2-case
#17
Marta Ježová, Renata Gaillyová
Hemophagocytic lymphohistiocytosis is a rare immunologic disorder affecting small children. It is characterized by an excessive and injurious immune response which turns rapidly fatal unless promptly and effectively treated. The main clinical signs are prolonged fever, hepatosplenomegaly, bleeding and laboratory findings of pancytopenia, increased serum transaminases, hypertriglyceridemia and hypofibrinogenemia. Four genes responsible for familiar hemophagocytic lymphohistiocytosis, which is inherited in autosomal recessive manner, have been identified so far...
2017: Ceskoslovenská Patologie
https://www.readbyqxmd.com/read/28238383/placental-findings-in-feto-maternal-hemorrhage-in-livebirth-and-stillbirth
#18
Sanjita Ravishankar, Alison Migliori, Judy Struminsky, Phinnara Has, C James Sung, Mai He
Feto-maternal hemorrhage (FMH) is not an uncommon event during pregnancy with important clinical implications for both maternal and fetal outcomes. The diagnosis is often made using Kleihauer-Betke (KB) test. As FMH occurs transplacentally, examination of the placenta may contribute to the diagnosis of FMH. This retrospective case-control study aims to examine the placental features associated FMH in patients with known positive KB test results. When compared with KB negative placentas (n=88), KB positive placentas (n=49) had significantly higher incidence of pallor (6/49 vs 0/88, p=0...
February 6, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28228908/diagnosis-of-neonatal-neuroblastoma-with-postmortem-magnetic-resonance-imaging
#19
James Davis, Nathan Novotny, Jacqueline Macknis, Zeynep Alpay-Savasan, Luis F Goncalves
Postmortem magnetic resonance imaging (MRI) is emerging as a valuable tool to accompany traditional autopsy and has potential for use in cases when traditional autopsy is not possible. This case report will review the use of postmortem MRI with limited tissue sampling to differentiate between metastatic neuroblastoma and hepatoblastoma which could not be clearly differentiated with prenatal ultrasound, prenatal MRI, or emergent postnatal ultrasound. The mother presented to our institution at 27 weeks gestation after an obstetric ultrasound at her obstetrician's office identified a large abdominal mass...
March 2017: Radiology case reports
https://www.readbyqxmd.com/read/28214215/immunoexpression-of-gadd45%C3%AE-in-the-myocardium-of-newborns-experiencing-perinatal-hypoxia
#20
Mona Adalgisa Simões, Francisco Cesar Pabis, Ana Karyn Ehrenfried de Freitas, Marina Luise Viola de Azevedo, Daiane Cristine Martins Ronchi, Lucia de Noronha
AIM: Among the several organs affected by perinatal hypoxia, the heart plays a central role, with cell death caused mainly by apoptosis. One of the biomarkers most often linked to hypoxia-derived apoptosis of cardiomyocytes in animals is Gadd45β. From the published literature, Gadd45β is proposed as a biomarker of hypoxia-induced lesion in cardiomyocytes, both in vitro, as well as in animal models. Our study suggests that this protein can be used as an early biomarker of cell damage in neonate's cardiomyocytes (humans specimens), a process that can ultimately lead to apoptosis...
March 2017: Pathology, Research and Practice
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