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fetal autopsy

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https://www.readbyqxmd.com/read/29644715/comparison-of-biochemical-analysis-of-fetal-serum-and-fetal-urine-in-the-prediction-of-postnatal-renal-outcome-in-lower-urinary-tract-obstruction
#1
Emmanuel Spaggiari, Julien J Stirnemann, Sara Benedetti, Sophie Dreux, Laurent J Salomon, Thomas Blanc, Jonathan Rosenblatt, Romain Favre, Yves Ville, Françoise Muller
OBJECTIVES: To compare the prognostic value of fetal serum biochemistry and fetal urine biochemistry in predicting renal outcome in LUTO. METHODS: We retrospectively studied renal outcome following a prenatal diagnosis of LUTO in cases for which both fetal blood and fetal urine were sampled. We classified the renal outcome as either "favorable", when postnatal renal function was normal, or "adverse", in the case of postnatal chronic renal failure or when renal histological lesions were present at autopsy in the case of termination of pregnancy...
April 12, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29625208/development-of-the-human-lateral-geniculate-nucleus-a-morphometric-and-computerized-3d-reconstruction-study
#2
Katsuyuki Yamaguchi
INTRODUCTION: The lateral geniculate nucleus (LGN) is the major relay center of the visual pathway in humans. There are few quantitative data on the morphology of LGN in prenatal infants. In this study, using serial brain sections, the author investigated the morphology of this nucleus during the second half of fetal period. MATERIAL AND METHODS: Eleven human brains were obtained at routine autopsy from preterm infants aged 20-39 postmenstrual weeks. After fixation, the brain was embedded en bloc in celloidin and cut serially at 30 μm in the horizontal plane...
April 3, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29609227/-characteristics-and-prognosis-of-interrupted-inferior-vena-cava-with-azygous-continuation
#3
Q Xu, H X Sun, J S Xie, J L Wang, Q Y Pei, X H Zhang
Objective: To explore the clinical characteristics of interrupted of the inferior vena cava with azygous continuation and the prognosis. Methods: Retrospective analysis of 21 fetuses diagnosed with interrupted inferior vena cava with azygous continuation among 28 567 pregnant women who underwent routine ultrasound scan. The clinical data, ultrasonographic features, genetic information and prognosis were collected. Results: Interrupted of the inferior vena cava with azygous continuation occurred in 21(0.07%, 21/28 567) of 28 567 patients...
March 25, 2018: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/29572097/hippocampal-microvasculature-changes-in-association-with-oxidative-stress-in-alzheimer-s-disease
#4
Abhik Sen, Jarin Hongpaisan
Vascular endothelial dysfunction is a primary phenotype of aging, and microvascular (MV) lesion is mainly associated with Alzheimer's disease (AD). Here we have studied the correlation of MV wall thickness and CA1 pyramidal neuronal pathology in autopsy-confirmed AD brains. Both hyaline (h-MV) and increased cell number (c-MV) associated MV wall thickening was found in age-matched control (AC) hippocampus without significant change in Aβ level (Braak stages 0-III). AC neurons neighboring the h-MV showed lower levels of oxidative DNA/RNA damage and Aβ precursor protein (APP), while the neurons around c-MV showed higher oxidative DNA/RNA damage with increased APP expression...
March 20, 2018: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29569709/the-feasibility-of-a-clinical-audit-tool-to-investigate-stillbirth-in-australia-a-single-centre-experience
#5
Christoph Lehner, Amanda Harry, Anita Pelecanos, Lauren Wilson, Kate Pink, Renuka Sekar
BACKGROUND: The stillbirth rate in Australia is 7 per 1000 births (Australia's Mothers and Babies 2014-in brief. Perinatal Statistics Series no. 32. Cat no. PER 87, Canberra, AIHW, 2016). The Perinatal Society of Australia and New Zealand (PSANZ) developed guidelines to standardise the investigations into stillbirth. AIMS: To identify causes of stillbirths and stillbirth care using the National Perinatal Death Clinical Audit Tool (National Perinatal Death Clinical Audit Tool, Australian and New Zealand Stillbirth Alliance [ANZSA]/Perinatal Society of Australia and New Zealand [PSANZ]) and compare it to the PSANZ recommendations...
March 23, 2018: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/29532452/hepcidin-an-iron-regulatory-hormone-of-innate-immunity-is-differentially-expressed-in-premature-fetuses-with-early-onset-neonatal-sepsis
#6
Sammy M Tabbah, Catalin S Buhimschi, Katherine Rodewald-Millen, Christopher R Pierson, Vineet Bhandari, Philip Samuels, Irina A Buhimschi
OBJECTIVE:  Hepcidin, a mediator of innate immunity, binds the iron exporter ferroportin, leading to functional hypoferremia through intracellular iron sequestration. We explored hepcidin-ferroportin interactions in neonates clinically diagnosed with early-onset neonatal sepsis (EONS). STUDY DESIGN:  Hepcidin and interleukin (IL)-6 were quantified by enzyme-linked immunosorbent assay (ELISA) in 92 paired cord blood-maternal blood samples in the following groups: "Yes" EONS ( n  = 41, gestational age [GA] 29 ± 1 weeks) and "No" EONS ( n  = 51, GA 26 ± 1 weeks)...
February 2, 2018: American Journal of Perinatology
https://www.readbyqxmd.com/read/29510634/-development-of-prenatal-diagnostics-of-congenital-heart-defects-profit-of-standardized-scanning-planes
#7
J Pavlíček, E Klásková, E Doležálková, D Matura, R Špaček, T Gruszka, S Polanská, M Procházka
OBJECTIVE: To audit the development and success rate of prenatal detection of congenital heart defects (CHDs), and to evaluate the effectiveness of diagnostics performed in standardized scanning planes. SETTING: Department of Pediatrics, University Hospital Ostrava. DESIGN: Retrospective study. METHODS: Ultrasound examination of fetal heart (fetal echocardiography) was performed in the second trimester pregnancy. The observed region was the Moravian-Silesian region; the assessment was performed in the retrospective study performed between 2000- 2016...
2018: Ceská Gynekologie
https://www.readbyqxmd.com/read/29489503/evaluation-of-stillbirth
#8
Jessica M Page, Robert M Silver
PURPOSE OF REVIEW: To review current evidence regarding the most useful tests for evaluation of potential causes of stillbirth. RECENT FINDINGS: Stillbirth remains one of the most devastating obstetric complications. Recent advances include work investigating the highest yield diagnostic tests for determining a cause of death in stillbirths. Placental pathology and fetal autopsy improve the diagnostic yield when combined with maternal clinical history. Additional tools include genetic evaluation, and testing for antiphospholipid antibodies and fetal-maternal hemorrhage based on the clinical scenario...
April 2018: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29441430/prenatal-diagnosis-of-apert-syndrome-using-ultrasound-magnetic-resonance-imaging-and-three-dimensional-virtual-physical-models-three-case-series-and-literature-review
#9
Heron Werner, Pedro Castro, Pedro Daltro, Jorge Lopes, Gerson Ribeiro, Edward Araujo Júnior
OBJECTIVE: This aimed to describe the prenatal diagnosis of three cases of Apert syndrome using two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), and 3D virtual/physical models. METHODS: We retrospectively analyzed three cases of Apert syndrome at our service. The prenatal diagnostic methods used were 2D ultrasound, 3D ultrasound in conventional and HDlive rendering modes, T2-weighted MRI sequences, and 3D virtual/physical models from MRI or 3D ultrasound scan data...
February 13, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29438963/health-professionals-and-coroners-views-on-less-invasive-perinatal-and-paediatric-autopsy-a-qualitative-study
#10
Celine Lewis, Melissa Hill, Owen J Arthurs, John C Hutchinson, Lyn S Chitty, Neil Sebire
OBJECTIVE: To assess health professionals' and coroners' attitudes towards non-minimally and minimally invasive autopsy in the perinatal and paediatric setting. METHODS: A qualitative study using semistructured interviews. Data were analysed thematically. RESULTS: Twenty-five health professionals (including perinatal/paediatric pathologists and anatomical pathology technologists, obstetricians, fetal medicine consultants and bereavement midwives, intensive care consultants and family liaison nurses, a consultant neonatologist and a paediatric radiologist) and four coroners participated...
February 8, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29410108/post-mortem-microfocus-computed-tomography-for-early-gestation-fetuses-a-validation-study-against-conventional-autopsy
#11
John C Hutchinson, Xin Kang, Susan Cheng Shelmerdine, Valerie Segers, Claudio M Lombardi, Mieke M Cannie, Neil J Sebire, Jacques C Jani, Owen J Arthurs
BACKGROUND: Perinatal autopsy provides useful clinical information in up to 40% of cases. However, there is a substantial unmet clinical need with regards to post mortem investigation of early gestation fetal loss for parents for whom standard autopsy is either not available or not acceptable. Parents dislike the invasive nature of autopsy, but current clinical imaging techniques do not provide high-enough imaging resolution in small fetuses. We hypothesized that microfocus computed tomography, a rapid, high resolution imaging technique, could give accurate diagnostic imaging following early gestation fetal loss...
January 31, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29377643/causes-of-congenital-malformations
#12
M Hassan Toufaily, Marie-Noel Westgate, Angela E Lin, Lewis B Holmes
BACKGROUND: Many different causes of malformations have been established. The surveillance of a consecutive population of births, including stillbirths and elective terminations of pregnancy because of fetal anomalies, can identify each infant with malformations and determine the frequency of the apparent etiologies. This report is a sequel to the first such analysis in the first 10 years of this Active Malformations Surveillance Program (Nelson and Holmes, ). METHODS: The presence of malformations was determined among 289,365 births over 41 years (1972-2012) at the Brigham and Women's Hospital in Boston...
January 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29356416/a-neuropathological-study-of-novel-rttn-gene-mutations-causing-a-familial-microcephaly-with-simplified-gyral-pattern
#13
Suzanne Chartier, Caroline Alby, Lucile Boutaud, Sophie Thomas, Nadia Elkhartoufi, Jelena Martinovic, Josseline Kaplan, Alexandra Benachi, Didier Lacombe, Pascale Sonigo, Séverine Drunat, Michel Vekemans, Joël Agenor, Férechté Encha Razavi, Tania Attie-Bitach
BACKGROUND: The RTTN gene encodes Rotatin, a large centrosomal protein involved in ciliary functions. RTTN mutations have been reported in seven families and are associated with two phenotypes: polymicrogyria associated with seizures and primary microcephaly associated with primordial dwarfism. CASE: A targeted exome sequencing of morbid genes causing cerebral malformations identified novel RTTN compound heterozygous mutations in a family where three pregnancies were terminated because a severe fetal microcephaly was diagnosed...
April 17, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29336636/a-dysmorphology-based-systematic-approach-toward-perinatal-genetic-diagnosis-in-a-fetal-autopsy-series
#14
Shagun Aggarwal, Ashwani Tandon, Aneek Das Bhowmik, Jamal Mohamed Nurul Jain Safarulla, Ashwin Dalal
BACKGROUND: This retrospective study assesses the contribution of genetic disorders in fetuses undergoing postmortem evaluation and the performance of a clinical dysmorphology based systematic approach toward genetic diagnosis. MATERIALS AND METHODS: Ninety fetuses, including spontaneous losses and terminated pregnancies, underwent a postmortem evaluation including dysmorphological examination, radiological studies, and histopathological examination. Genetic testing including karyotyping, biochemical testing, Sanger sequencing, and exome sequencing were performed selectively...
February 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29329932/development-of-the-human-fetal-kidney-from-mid-to-late-gestation-in-male-and-female-infants
#15
Danica Ryan, Megan R Sutherland, Tracey J Flores, Alison L Kent, Jane E Dahlstrom, Victor G Puelles, John F Bertram, Andrew P McMahon, Melissa H Little, Lynette Moore, Mary Jane Black
BACKGROUND: During normal human kidney development, nephrogenesis (the formation of nephrons) is complete by term birth, with the majority of nephrons formed late in gestation. The aim of this study was to morphologically examine nephrogenesis in fetal human kidneys from 20 to 41weeks of gestation. METHODS: Kidney samples were obtained at autopsy from 71 infants that died acutely in utero or within 24h after birth. Using image analysis, nephrogenic zone width, the number of glomerular generations, renal corpuscle cross-sectional area and the cellular composition of glomeruli were examined...
January 2018: EBioMedicine
https://www.readbyqxmd.com/read/29321000/care-quality-following-intrauterine-death-in-spanish-hospitals-results-from-an-online-survey
#16
Paul Richard Cassidy
BACKGROUND: The objective of the study was to evaluate practices in Spanish hospitals after intrauterine death in terms of medical/ technical care and bereavement support care. METHODS: A cross-sectional descriptive study using an online self-completion questionnaire. The population was defined as women who had experienced an intrauterine fetal death between sixteen weeks and birth, either through spontaneous late miscarriage/stillbirth or termination of pregnancy for medical reasons...
January 10, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29287134/prenatal-diagnosis-of-total-anomalous-pulmonary-venous-connection-by-2d-and-3d-fetal-echocardiography
#17
Ye Zhang, Qin Shao, Lin Sun, Shuping Ge, Yihua He
OBJECTIVE: Prenatal diagnosis of total anomalous pulmonary venous connection (TAPVC) by fetal echocardiography (FE) remains a challenge. We sought to ascertain the diagnostic accuracy of 2D and 3D spatiotemporal image correlation (STIC) FE and the potential incremental value of 3D STIC FE for prenatal diagnosis and assessment of TAPVC. METHODS: This study was conducted retrospectively in a single tertiary referral center. The study population consisted of 74 TAPVC from 17 063 fetuses by FE from August 2010 to April 2016...
December 2017: Echocardiography
https://www.readbyqxmd.com/read/29279948/developmental-patterns-of-fetal-fat-and-corresponding-signal-on-t1-weighted-magnetic-resonance-imaging
#18
Eléonore Blondiaux, Lydia Chougar, Antoinette Gelot, Stéphanie Valence, Etienne Audureau, Hubert Ducou le Pointe, Jean-Marie Jouannic, Ferdinand Dhombres, Catherine Garel
BACKGROUND: Evaluation of subcutaneous fetal fat layer thickness on T1-weighted sequences can be used to predict birth weight. Little is known about normal MR signal patterns of subcutaneous tissue throughout pregnancy. OBJECTIVE: To establish developmental patterns of subcutaneous fetal fat signal on T1-weighted sequences during the 2nd and 3rd trimesters. MATERIALS AND METHODS: We retrospectively examined T1-weighted images of 110 fetal MRI scans...
March 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29274205/arthrogryposis-and-pterygia-as-lethal-end-manifestations-of-genetically-defined-congenital-myopathies
#19
Atif A Ahmed, Priya Skaria, Nicole P Safina, Isabelle Thiffault, Alex Kats, Eugenio Taboada, Sultan Habeebu, Carol Saunders
Arthrogryposis multiplex congenita affects approximately 1 in 3,000 individuals of different ethnic backgrounds and displays an equal incidence in males and females. The underlying mechanism for congenital contracture of the joints is decreased fetal movement during intrauterine development. This disorder is associated with over 400 medical conditions and 350 known genes that display considerable variability in phenotypic expression. In this report, four fetal or perinatal autopsy cases of arthrogryposis were studied by gross morphology, microscopic histopathologic examination, and whole genome sequencing of postmortem DNA...
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29240237/nonisolated-diaphragmatic-hernia-in-simpson-golabi-behmel-syndrome
#20
Karen Chong, Maha Saleh, Marie Injeyan, Ioana Miron, Katherine Fong, Patrick Shannon
OBJECTIVE: Congenital diaphragmatic hernia (CDH) is associated with Simpson-Golabi-Behmel syndrome (SGBS), but few cases diagnosed prenatally have been reported. The aim of this series is to highlight the association of nonisolated CDH with SGBS type I on prenatal ultrasound and emphasize the importance of genetic testing, fetal autopsy, and family history in confirming this diagnosis. METHOD: Retrospective review of 3 cases of SGBS type I in a single tertiary care centre...
January 2018: Prenatal Diagnosis
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