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https://www.readbyqxmd.com/read/27905973/the-paradox-of-verbal-autopsy-in-cause-of-death-assignment-symptom-question-unreliability-but-predictive-accuracy
#1
Peter Serina, Ian Riley, Bernardo Hernandez, Abraham D Flaxman, Devarsetty Praveen, Veronica Tallo, Rohina Joshi, Diozele Sanvictores, Andrea Stewart, Meghan D Mooney, Christopher J L Murray, Alan D Lopez
BACKGROUND: We believe that it is important that governments understand the reliability of the mortality data which they have at their disposable to guide policy debates. In many instances, verbal autopsy (VA) will be the only source of mortality data for populations, yet little is known about how the accuracy of VA diagnoses is affected by the reliability of the symptom responses. We previously described the effect of the duration of time between death and VA administration on VA validity...
October 18, 2016: Population Health Metrics
https://www.readbyqxmd.com/read/27900365/genome-sequencing-in-a-case-of-niemann-pick-type-c
#2
Max Dougherty, John Lazar, Jason C Klein, Karina Diaz, Theodore Gobillot, Eli Grunblatt, Nicholas Hasle, Daniel Lawrence, Megan Maurano, Maria Nelson, Gregory Olson, Sanjay Srivatsan, Jay Shendure, C Dirk Keene, Thomas Bird, Marshall S Horwitz, Desiree A Marshall
Adult-onset Niemann-Pick disease type C (NPC) is an infrequent presentation of a rare neurovisceral lysosomal lipid storage disorder caused by autosomal recessive mutations in NPC1 (∼95%) or NPC2 (∼5%). Our patient was diagnosed at age 33 when he presented with a 10-yr history of difficulties in judgment, concentration, speech, and coordination. A history of transient neonatal jaundice and splenomegaly with bone marrow biopsy suggesting a lipid storage disorder pointed to NPC; biochemical ("variant" level cholesterol esterification) and ultrastructural studies in adulthood confirmed the diagnosis...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27878782/trajectory-of-cause-of-death-among-brought-dead-neonates-in-tertiary-care-public-facilities-of-pakistan-a-multicenter-study
#3
Muhammad Ayaz Mustufa, Munir Ahmed Sheikh, Ijaz-Ul-Haque Taseer, Syed Jamal Raza, Muhammad Sohail Arshad, Tasleem Akhter, Ghazala Mohyuddin Arain, Sultana Habibullah, Sohail Safdar, Rukhsana Firdous, Muhammad Adnan
BACKGROUND: Considering the fact that Pakistan is amongst the countries with very high neonatal mortality rates, we conducted a research study to determine the possible causes and characteristics of neonates presenting dead to the emergency department of tertiary public health care facilities of Pakistan using verbal autopsies. METHODS: A descriptive case series study was conducted in emergency department/pediatrics ward/neonatal ward/nursery unit of ten tertiary care public health facilities, situated in seven major cities of Pakistan from November, 2011 to June, 2013...
November 23, 2016: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/27862258/raine-syndrome-omim-259775-caused-by-fam20c-mutation-is-congenital-sclerosing-osteomalacia-with-cerebral-calcification-omim-259660
#4
Michael P Whyte, William H McAlister, Michael D Fallon, Mary Ella Pierpont, Vinieth N Bijanki, Shenghui Duan, Ghada A Otaify, William S Sly, Steven Mumm
In 1985, we briefly reported infant sisters with a unique, lethal, autosomal recessive disorder designated congenital sclerosing osteomalacia with cerebral calcification. In 1986, this condition was entered into Mendelian Inheritance In Man (MIM) as osteomalacia, sclerosing, with cerebral calcification (MIM 259660). However, no attestations followed. Instead, in 1989 Raine and colleagues published an affected neonate considering unprecedented the striking clinical and radiographic features. In 1992, "Raine syndrome" entered MIM formally as osteosclerotic bone dysplasia, lethal (MIM #259775)...
November 10, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/27843908/anterior-chamber-pathology-in-alagille-syndrome
#5
Derek K Ho, Alex V Levin, William V Anninger, David A Piccoli, Ralph C Eagle
BACKGROUND: Alagille syndrome is an autosomal dominant disorder characterized by neonatal cholestasis, characteristic facies, and cardiac abnormalities. Ocular abnormalities include posterior embryotoxon, mosaic pattern of iris stromal hypoplasia, microcornea, optic disc drusen, and pigmentary retinopathy. We present the second report of ocular pathology in two cases of Alagille syndrome. METHODS: Gross and histologic preparations of four eyes of two patients. RESULTS: Posterior embryotoxon is seen in both cases, with iris processes extending to the embryotoxon in case 1...
October 2016: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/27833460/the-paradox-of-verbal-autopsy-in-cause-of-death-assignment-symptom-question-unreliability-but-predictive-accuracy
#6
Peter Serina, Ian Riley, Bernardo Hernandez, Abraham D Flaxman, Devarsetty Praveen, Veronica Tallo, Rohina Joshi, Diozele Sanvictores, Andrea Stewart, Meghan D Mooney, Christopher J L Murray, Alan D Lopez
BACKGROUND: We believe that it is important that governments understand the reliability of the mortality data which they have at their disposable to guide policy debates. In many instances, verbal autopsy (VA) will be the only source of mortality data for populations, yet little is known about how the accuracy of VA diagnoses is affected by the reliability of the symptom responses. We previously described the effect of the duration of time between death and VA administration on VA validity...
2016: Population Health Metrics
https://www.readbyqxmd.com/read/27815843/coxpd9-an-evolving-multisystem-disease-congenital-lactic-acidosis-sensorineural-hearing-loss-hypertrophic-cardiomyopathy-cirrhosis-and-interstitial-nephritis
#7
C Bursle, A Narendra, R Chuk, J Cardinal, R Justo, B Lewis, D Coman
We present the second report of combined oxidative phosphorylation deficiency-9. The infant presented in the neonatal period with poor feeding, lactic acidosis and sensorineural hearing loss. He subsequently developed a lethal hypertrophic cardiomyopathy during infancy. Cirrhosis and interstitial nephritis were identified at autopsy. Exome sequencing has detected compound heterozygous mutations in the MRPL3 gene which encodes a large mitochondrial ribosome subunit protein. We identified a known heterozygous variant NM_007208 c...
November 5, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27810420/postmortem-vitreous-bevacizumab-levels-of-an-infant-treated-for-retinopathy-of-prematurity
#8
Stephen Hypes, Orwa Nasser, Nancy Hanna, William Lawhon, Rachida Bouhenni, Richard W Hertle
We report the vitreous concentration of bevacizumab after injection for the treatment of retinopathy of prematurity (ROP). A premature neonate diagnosed with type 1 ROP was treated in both eyes with 0.625 mg intravitreal bevacizumab injection at 32 weeks' postconceptual age. Eleven weeks later there was complete regression clinically, but the patient died. Vitreous samples taken at autopsy revealed a bevacizumab vitreous concentration of 41.57 ng/ml. Histopathology of the retina showed residual preretinal neovascularization...
October 31, 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27802092/case-report-preservation-of-reduced-numbers-of-insulin-positive-cells-in-sulfonylurea-unresponsive-kcnj11-related-diabetes
#9
Siri Atma W Greeley, Mark C Zielinski, Ananta Poudel, Honggang Ye, Shivani Berry, Jerome B Taxy, David Carmody, Donald F Steiner, Louis H Philipson, Jamie R Wood, Manami Hara
CONTEXT: The most common genetic cause of permanent neonatal diabetes mellitus is activating mutations in KCNJ11, which can usually be treated using oral sulfonylureas (SU) instead of insulin injections, although some mutations are SU unresponsive. Here, we provide the first report of the pancreatic islet endocrine cell composition and area in a patient with an SU-unresponsive KCNJ11 mutation (p.G334D), in comparison to age-matched controls. CASE DESCRIPTION: Pancreatic autopsy tissue sections from a 2-year female child diagnosed with KCNJ11-related diabetes at 4 days of age and 13 age-matched controls were stained with insulin, glucagon, somatostatin, pancreatic polypeptide and Ki67 antibodies to determine islet endocrine cell composition and area...
November 1, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27788041/fetal-dysmorphology-still-an-essential-art-analysis-of-the-limitations-of-microarray-in-a-fetal-population-and-a-look-toward-the-genome-sequencing-era
#10
Elaine Fletcher, Mary Porteous, Eddy Maher, Kathryn J McKenzie, Margaret 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 post mortems performed between Jan 2011 - Dec 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...
October 27, 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/27777600/effects-of-recall-time-on-cause-of-death-findings-using-verbal-autopsy-empirical-evidence-from-rural-south-africa
#11
Laith Hussain-Alkhateeb, Max Petzold, Mark Collinson, Stephen Tollman, Kathleen Kahn, Peter Byass
BACKGROUND: Verbal autopsy (VA) is a widely used technique for assigning causes to non-medically certified deaths using information gathered from a close caregiver. Both operational and cultural factors may cause delays in follow-up of deaths. The resulting time lag-from death to VA interview-can influence ways in which terminal events are remembered, and thus affect cause-of-death assignment. This study investigates the impact of recall period on causes of death determined by VA. METHODS: A total of 10,882 deaths from the Agincourt Health and Demographic Surveillance System (HDSS) with complete VAs, including recall period, were incorporated in this study...
2016: Emerging Themes in Epidemiology
https://www.readbyqxmd.com/read/27752381/mitochondrial-disease-as-a-cause-of-neonatal-hemophagocytic-lymphohistiocytosis
#12
Kazumasa Fuwa, Mitsuru Kubota, Masami Kanno, Hiroshi Miyabayashi, Ken Kawabata, Keiichi Kanno, Masaki Shimizu
Diagnosis of mitochondrial respiratory chain disorder (MRCD) is often difficult. Its pathogenesis is still unclear. We diagnosed MRCD by measuring the activity of the mitochondrial respiratory chain enzyme, and the patient also had hemophagocytic lymphohistiocytosis (HLH). A preterm female infant was born at 34 weeks of gestation. On day 6, HLH was revealed by bone marrow aspiration. She died on day 10 due to uncontrollable HLH. An autopsy was performed, and we measured the activity of the mitochondrial respiratory chain enzyme in the liver, muscle, and heart...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27726416/zika-virus-associated-micrencephaly-a-thorough-description-of-neuropathologic-findings-in-the-fetal-central-nervous-system
#13
Peter Štrafela, Alenka Vizjak, Jerica Mraz, Jernej Mlakar, Jože Pižem, Nataša Tul, Tatjana Avšič Županc, Mara Popović
CONTEXT: -The 2015 outbreak of Zika virus in Brazil resulted in a 20-times increased prevalence of congenital microcephaly in stillborns and neonates and was instrumental in raising the suspicion of a causal association between Zika virus and microcephaly. OBJECTIVE: -To provide a comprehensive description of the neuropathologic features of congenital Zika virus infection. DESIGN: -Autopsy evaluation of the brain from a fetus of 32 weeks and 6 days of gestation, with a prenatal diagnosis of microcephaly associated with polymerase chain reaction-confirmed, fetal, Zika virus infection...
October 11, 2016: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/27701795/adequacy-of-palliative-care-in-a-single-tertiary-neonatal-unit
#14
Deborah Gilmour, Mark W Davies, Anthony R Herbert
AIM: End-of-life care remains part of the scope of practice in all neonatal units. This study aimed to characterise the end-of-life care provided in an Australian tertiary neonatal centre, where paediatric palliative care was accessible via a consultative service. METHODS: This retrospective cohort study examined indicators of quality palliative care provided to 46 infants born within a 30-month period. The cohort included four infants who received palliative care consultations additional to usual neonatal care...
October 4, 2016: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/27648257/burden-timing-and-causes-of-maternal-and-neonatal-deaths-and-stillbirths-in-sub-saharan-africa-and-south-asia-protocol-for-a-prospective-cohort-study
#15
(no author information available yet)
OBJECTIVES: The AMANHI mortality study aims to use harmonized methods, across eleven sites in eight countries in South Asia and sub-Saharan Africa, to estimate the burden, timing and causes of maternal, fetal and neonatal deaths. It will generate data to help advance the science of cause of death (COD) assignment in developing country settings. METHODS: This population-based, cohort study is being conducted in the eleven sites where approximately 2 million women of reproductive age are under surveillance to identify and follow-up pregnancies through to six weeks postpartum...
December 2016: Journal of Global Health
https://www.readbyqxmd.com/read/27627792/early-use-of-inhaled-nitric-oxide-in-preterm-infants-is-there-a-rationale-for-selective-approach
#16
Praveen Chandrasekharan, Rafal Kozielski, Vasantha H S Kumar, Munmun Rawat, Veena Manja, Changxing Ma, Satyan Lakshminrusimha
Inhaled nitric oxide (iNO) is being increasingly used in preterm infants < 34 weeks with hypoxemic respiratory failure (HRF) and/or pulmonary hypertension (PH). Objective To evaluate the risk factors, survival characteristics, and lung histopathology in preterm infants with PH/HRF. Methods Retrospective chart review was conducted to determine characteristics of 93 preterm infants treated with iNO in the first 28 days and compared with 930 matched controls. Factors associated with survival with preterm HRF and smooth muscle actin from nine autopsies were evaluated...
September 14, 2016: American Journal of Perinatology
https://www.readbyqxmd.com/read/27620161/morphometric-profile-of-large-intestinal-neuronal-plexuses-in-normal-perinatal-autopsies-and-hirschsprung-disease
#17
H Subramanian, B A Badhe, P C Toi, K Sambandan
OBJECTIVES: To derive objective values for the diagnosis of Hirschsprung disease (HSCR) from a comparison of the morphometric profile of large intestinal neuronal plexuses in normal perinatal autopsies and surgical specimens of HSCR. METHODS: A cross-sectional comparative study with 40 subjects each in (i) non-HSCR perinatal group encompassing neonates and stillborn babies beyond 30 weeks of gestation on whom autopsies were conducted and (ii) HSCR group comprising all patients clinicoradiologically diagnosed as HSCR...
September 12, 2016: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/27575842/sonographic-pulmonary-abnormalities-in-fetuses-with-hypoplastic-left-heart-syndrome-and-intact-atrial-septum-undergoing-attempted-atrial-septostomy-in-utero
#18
Meaghan M Mackesy, Brian T Kalish, Wayne Tworetzky, Stephen Sanders, Alyaa Al-Ibraheemi, Louise Wilkins-Haug, James Lock, Audrey Marshall, Carol B Benson
Fetuses with hypoplastic left heart syndrome (HLHS) and intact atrial septum are a particular subset of HLHS neonates with high perinatal mortality. The reported mortality in these patients is 50% to 70%, even with prenatal diagnosis. Prenatal left atrial and pulmonary venous hypertension results in abnormal pulmonary vascular and parenchymal development. The goal of this study was to compare the sonographic appearance of the lungs in fetuses with HLHS/intact atrial septum to neonatal outcome and/or pathology in cases where in utero intervention was performed to open the atrial septum...
August 29, 2016: Ultrasound Quarterly
https://www.readbyqxmd.com/read/27575388/abnormal-muscularization-of-intra-acinar-pulmonary-arteries-in-two-cases-presenting-as-sudden-infant-death-sids
#19
Khairul Zainun, Kirsten Hope, Andrew G Nicholson, Marta Cecilia Cohen
Abnormal muscularization of intra acinar pulmonary arteries is a histological hallmark of persistent pulmonary hypertension of newborn (PPHN), an uncommon disease with high morbidity and mortality. PPHN presents with signs of respiratory distress immediately following birth. The disease is multi-factorial in origin and can be idiopathic as well associated with a variety of conditions such as congenital heart disease and both congenital and acquired lung diseases. We report two cases presenting as sudden unexpected death in late neonatal period (SUDI) showing abnormal muscularization of acinar pulmonary arteries reminiscent of PPHN...
August 30, 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/27554100/social-autopsy-of-maternal-neonatal-deaths-and-stillbirths-in-rural-bangladesh-qualitative-exploration-of-its-effect-and-community-acceptance
#20
Animesh Biswas, Fazlur Rahman, Charli Eriksson, Abdul Halim, Koustuv Dalal
OBJECTIVES: Social Autopsy (SA) is an innovative strategy where a trained facilitator leads community groups through a structured, standardised analysis of the physical, environmental, cultural and social factors contributing to a serious, non-fatal health event or death. The discussion stimulated by the formal process of SA determines the causes and suggests preventative measures that are appropriate and achievable in the community. Here we explored individual experiences of SA, including acceptance and participant learning, and its effect on rural communities in Bangladesh...
2016: BMJ Open
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