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neonatal autopsy

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https://www.readbyqxmd.com/read/28815739/kernicterus-in-a-boy-with-ornithine-transcarbamylase-deficiency-a-case-report
#1
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/28801384/causes-of-and-contributors-to-infant-mortality-in-a-rural-community-of-north-india-evidence-from-verbal-and-social-autopsy
#2
Sanjay Kumar Rai, Shashi Kant, Rahul Srivastava, Priti Gupta, Puneet Misra, Chandrakant Sambhaji Pandav, Arvind Kumar Singh
OBJECTIVE: To identify the medical causes of death and contribution of non-biological factors towards infant mortality by a retrospective analysis of routinely collected data using verbal and social autopsy tools. SETTING: The study site was Health and Demographic Surveillance System (HDSS), Ballabgarh, North India PARTICIPANTS: All infant deaths during the years 2008-2012 were included for verbal autopsy and infant deaths from July 2012 to December 2012 were included for social autopsy...
August 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28749718/ectopic-intralaryngo-tracheal-thyroid-tissue-causing-neonatal-death
#3
Lauren Furnas, Huda Safa, Fiona Hutchinson, Lindsay Joseph, Jane E Armes
INTRODUCTION: Ectopic thyroid tissue can be found anywhere along the embryologic path of thyroid descent. Intralaryngo-tracheal thyroid tissue is the least common site of ectopia and can present with upper airways obstruction. Its presentation in the neonate is exceptional. CASE REPORT: We describe a term female neonate with subglottic thyroid tissue causing near-total occlusion of the larynx, which led to upper airways obstruction and neonatal death. CONCLUSION: This emphasizes the importance of considering intralaryngo-tracheal tumors as a cause of acute and otherwise unexplainable respiratory distress immediately after birth...
July 27, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28748016/-hepatic-hematoma-in-neonates-about-a-case
#4
Hanae Harchaoui, Bousayna Iraqi, Houria Knouni, Youness Taboz, Hasnae Benkirane, Hassan Aguenaou, Amina Barkat
Hepatic hematoma is a condition of unrecognized origin which can become extremely serious and whose diagnosis is often made during perinatal autopsy. It is often characterised by nonspecific clinical manifestations and a long delay before biological presentation.The diagnosis is essentially based on ultrasound and treatment is often conservative.We here report a case of a full-term newborn with asymptomatic hepatic haematoma due to obstetrical trauma.
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28739175/sudden-infant-death-from-neonate-carnitine-palmitoyl-transferase-ii-deficiency
#5
Si-Hao Du, Fu Zhang, Yan-Geng Yu, Chuan-Xiang Chen, Hui-Jun Wang, Dong-Ri Li
A full-term female baby born to parents who gave birth three years prior to a girl who survived only 31h postpartum died 36h after birth. An autopsy showed that the heart was markedly hypertrophic (32g). Microscopically, the myocardium, liver and kidney cells exhibited extensive vacuolar degeneration. Sudan III staining was positive in cardiac muscle, liver and kidney tissue. Tandem mass spectrometry analysis revealed that the deceased patient had a carnitine palmitoyl transferase II (CPT2) deficiency or a carnitine-acylcarnitine translocase deficiency...
June 27, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28737145/congenital-hepatic-fibrosis-with-polycystic-kidney-disease-an-unusual-cause-of-neonatal-cholestasis
#6
Vani Bharani, G Vybhav Venkatesh, Uma Nahar Saikia, B R Thapa
Congenital hepatic fibrosis is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. Typical presentation of congenital hepatic fibrosis is in the form of portal hypertension, in adolescents and young adults. We present an unusual case of neonatal cholestasis with rapid deterioration within first 4 months of life, who was diagnosed to have congenital hepatic fibrosis with polycystic kidney disease on autopsy.
July 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28730216/the-importance-of-perinatal-autopsy-review-of-the-literature-and-series-of-cases
#7
Maria Şorop-Florea, Raluca Niculina Ciurea, Mihai Ioana, Alex Emilian Stepan, George Alin Stoica, Florentina Tănase, Maria Cristina Comănescu, Marius Bogdan Novac, Ioana Drăgan, Ciprian LaurenŢiu Pătru, Roxana Cristina Drăguşin, George Lucian Zorilă, Ovidiu Marian Cărbunaru, NuŢi Daniela Oprescu, Iuliana Ceauşu, Simona Vlădăreanu, Ştefania Tudorache, Dominic Gabriel Iliescu
Perinatal autopsy remains the gold-standard procedure used to establish the fetal, neonatal or infant abnormalities. Progressively, perinatal pathology has become a specialized field with important roles of audit for fetal prenatal diagnostic tools, in parents counseling regarding future pregnancies, in scientific research, for epidemiology of congenital abnormalities and teaching. The differences between prenatal ultrasound and autopsy reports represent a strong argument for the autopsy examination following termination of pregnancy...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28727969/fetal-dysmorphology-still-an-essential-art-analysis-of-the-limitations-of-microarray-in-a-fetal-population-and-a-look-toward-the-genome-sequencing-era
#8
E Fletcher, M Porteous, K J McKenzie, E J Maher, M J Evans
Cytogenomic microarray allows assessment of the genome at higher resolutions than traditional karyotyping. The objective of this study is to evaluate the utility of microarray in a routine fetal autopsy setting before the advent of routine fetal exome/genome sequencing and the issues these technologies may generate. A systematic review of fetal postmortems at 12-24 weeks gestation between January 2011 and December 2014 was undertaken. Cases where there was no consent for audit, research, or genetic testing were excluded as were cases referred to the Procurator Fiscal, stillbirths, and neonatal deaths...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28719334/precisely-tracking-childhood-death
#9
Tamer H Farag, Jeffrey P Koplan, Robert F Breiman, Shabir A Madhi, Penny M Heaton, Trevor Mundel, Jaume Ordi, Quique Bassat, Clara Menendez, Scott F Dowell
Little is known about the specific causes of neonatal and under-five childhood death in high-mortality geographic regions due to a lack of primary data and dependence on inaccurate tools, such as verbal autopsy. To meet the ambitious new Sustainable Development Goal 3.2 to eliminate preventable child mortality in every country, better approaches are needed to precisely determine specific causes of death so that prevention and treatment interventions can be strengthened and focused. Minimally invasive tissue sampling (MITS) is a technique that uses needle-based postmortem sampling, followed by advanced histopathology and microbiology to definitely determine cause of death...
July 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28678413/disseminated-neonatal-herpes-simplex-virus-infection-with-escherichia-coli-coinfection
#10
Kacy Krehbiel, Veena Singh
Neonatal herpes simplex virus (HSV) infection is an uncommon disease that rarely presents as sudden unexpected death of a previously healthy newborn. Clinical manifestations are variable; signs and symptoms may be subtle and nonspecific. Neonatal infection may present with mucocutaneous (skin, eye, and/or mouth), disseminated, or central nervous system disease. Morbidity and mortality are dependent upon disease presentation and treatment. The infection is most frequently transmitted during the peripartum period, although the majority of mothers have no known history of HSV infection at the time of delivery...
July 5, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28677403/septicemia-and-meningoencephalitis-caused-by-listeria-monocytogenes-in-two-neonatal-llamas
#11
Ian K Hawkins, Marcia Ilha, Eman Anis, Rebecca P Wilkes
Listeriosis is a disease of humans and domestic mammals (mainly ruminants) with variable manifestations, primarily encephalitis, septicemia, and abortion. Although Listeria monocytogenes readily causes illness in ruminants, the prevalence among domestic South American camelids (llamas and alpacas) is low and has not been documented in their wild counterparts, the vicuna and guanaco. We describe herein the clinical signs, autopsy findings, and histopathology of septicemia and suppurative meningoencephalitis caused by L...
July 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28633098/high-prevalence-of-cytomegalovirus-infection-in-surgical-intestinal-specimens-from-infants-with-necrotizing-enterocolitis-and-spontaneous-intestinal-perforation-a-retrospective-observational-study
#12
Soley Omarsdottir, Margret Agnarsdottir, Charlotte Casper, Abiel Orrego, Mireille Vanpée, Afsar Rahbar, Cecilia Söderberg-Nauclér
BACKGROUND: Necrotizing enterocolitis (NEC) is a severe, often fatal gastrointestinal emergency that predominantly affects preterm infants, and there is evidence that neonatal cytomegalovirus (CMV) infection may in some cases contribute to its pathogenesis. OBJECTIVES: This study aimed to evaluate the prevalence of CMV in infants with NEC. STUDY DESIGN: Seventy intestinal specimens from 61 infants with NEC, spontaneous intestinal perforation (SIP), or related surgical complications were collected at Karolinska University Hospital and Uppsala University Hospital, Sweden...
June 3, 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28632739/validity-of-a-minimally-invasive-autopsy-tool-for-cause-of-death-determination-in-pediatric-deaths-in-mozambique-an-observational-study
#13
Quique Bassat, Paola Castillo, Miguel J Martínez, Dercio Jordao, Lucilia Lovane, Juan Carlos Hurtado, Tacilta Nhampossa, Paula Santos Ritchie, Sónia Bandeira, Calvino Sambo, Valeria Chicamba, Mamudo R Ismail, Carla Carrilho, Cesaltina Lorenzoni, Fabiola Fernandes, Pau Cisteró, Alfredo Mayor, Anelsio Cossa, Inacio Mandomando, Mireia Navarro, Isaac Casas, Jordi Vila, Khátia Munguambe, Maria Maixenchs, Ariadna Sanz, Llorenç Quintó, Eusebio Macete, Pedro Alonso, Clara Menéndez, Jaume Ordi
BACKGROUND: In recent decades, the world has witnessed unprecedented progress in child survival. However, our knowledge of what is killing nearly 6 million children annually in low- and middle-income countries remains poor, partly because of the inadequacy and reduced precision of the methods currently utilized in these settings to investigate causes of death (CoDs). The study objective was to validate the use of a minimally invasive autopsy (MIA) approach as an adequate and more acceptable substitute for the complete diagnostic autopsy (CDA) for pediatric CoD investigation in a poor setting...
June 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28632735/validity-of-a-minimally-invasive-autopsy-for-cause-of-death-determination-in-stillborn-babies-and-neonates-in-mozambique-an-observational-study
#14
Clara Menendez, Paola Castillo, Miguel J Martínez, Dercio Jordao, Lucilia Lovane, Mamudo R Ismail, Carla Carrilho, Cesaltina Lorenzoni, Fabiola Fernandes, Tacilta Nhampossa, Juan Carlos Hurtado, Mireia Navarro, Isaac Casas, Paula Santos Ritchie, Sonia Bandeira, Sibone Mocumbi, Zara Jaze, Flora Mabota, Khátia Munguambe, Maria Maixenchs, Ariadna Sanz, Inacio Mandomando, Alfons Nadal, Anna Goncé, Carmen Muñoz-Almagro, Llorenç Quintó, Jordi Vila, Eusebio Macete, Pedro Alonso, Jaume Ordi, Quique Bassat
BACKGROUND: Over 5 million stillbirths and neonatal deaths occur annually. Limited and imprecise information on the cause of these deaths hampers progress in achieving global health targets. Complete diagnostic autopsies (CDAs)-the gold standard for cause of death determination-are difficult to perform in most high-burden settings. Therefore, validation of simpler and more feasible methods is needed. METHODS AND FINDINGS: In this observational study, the validity of a minimally invasive autopsy (MIA) method in determining the cause of death was assessed in 18 stillbirths and 41 neonatal deaths by comparing the results of the MIA with those of the CDA...
June 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28579621/fetal-pathology-of-neural-tube-defects-an-overview-of-68-cases
#15
Katharina Schoner, Roland Axt-Fliedner, Rainer Bald, Barbara Fritz, Juergen Kohlhase, Thomas Kohl, Helga Rehder
INTRODUCTION: The prevalence of neural tube defects worldwide is 1 - 2 per 1000 neonates. Neural tube defects result from a disturbance of neurulation in the 3rd or 4th week of development and thus represent the earliest manifestation of organ malformation. Neural tube defects (NTD) are classified into cranial dysraphism leading to anencephaly or meningoencephalocele and spinal dysraphism with or without meningomyelocele. In isolated form they have multifactorial causes, and the empirical risk of recurrence in Central Europe is 2%...
May 2017: Geburtshilfe und Frauenheilkunde
https://www.readbyqxmd.com/read/28567320/pneumoperitoneum-without-intestinal-perforation-in-a-neonate-case-report-and-literature-review
#16
Prabhavathi Gummalla, Gratias Mundakel, Maksim Agaronov, Haesoon Lee
Pneumoperitoneum in a preterm neonate usually indicates perforation of the intestine and is considered a surgical emergency. However, there are cases of pneumoperitoneum with no evidence of rupture of the intestine reported in the literature. We report a case of pneumoperitoneum with no intestinal perforation in a preterm neonate with respiratory distress syndrome who was on high frequency oscillatory ventilation (HFOV). He developed bilateral pulmonary interstitial emphysema with localized cystic lesion, likely localized pulmonary interstitial emphysema, and recurrent pneumothoraces...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28566837/massive-biventricular-rhabdomyoma-in-a-neonate
#17
Manish Pandey, Rimlee Dutta, Shyam S Kothari
Rhabdomyoma is a well characterised entity in a neonate. Herein, we report a massive biventricular rhabdomyoma in a neonate presenting with cyanosis and congestive heart failure which was confirmed on autopsy. The report is for documentation of an unusually large tumour.
May 2017: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/28562611/direct-estimates-of-cause-specific-mortality-fractions-and-rates-of-under-five-deaths-in-the-northern-and-southern-regions-of-nigeria-by-verbal-autopsy-interview
#18
Adeyinka Adewemimo, Henry D Kalter, Jamie Perin, Alain K Koffi, John Quinley, Robert E Black
Nigeria's under-five mortality rate is the eighth highest in the world. Identifying the causes of under-five deaths is crucial to achieving Sustainable Development Goal 3 by 2030 and improving child survival. National and international bodies collaborated in this study to provide the first ever direct estimates of the causes of under-five mortality in Nigeria. Verbal autopsy interviews were conducted of a representative sample of 986 neonatal and 2,268 1-59 month old deaths from 2008 to 2013 identified by the 2013 Nigeria Demographic and Health Survey...
2017: PloS One
https://www.readbyqxmd.com/read/28525974/pancreas-and-gallbladder-agenesis-in-a-newborn-with-semilobar-holoprosencephaly-a-case-report
#19
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
#20
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
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