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Fetal and Pediatric Pathology

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https://read.qxmd.com/read/30757938/a-hemizygous-370-kilobase-microduplication-at-xq13-1-in-a-three-year-old-boy-with-autism-and-speech-delay
#1
Evren Gumus
BACKGROUND: Alterations of Neuroligin 3 (NLGN3), located on Xq13, have been reported in autism spectrum disorder (ASD), and include the less frequent Xq13 duplication. CASE REPORT: A boy with an aggressive behavior, no speech and weak social relationships had a de novo Xq13.1 microduplication detected by microarray analysis. CONCLUSION: NLGN3, TAF1, and MED12 alterations, located on Xq13.1, have been associated with ASD. TAF and MED12 have other clinical features not present in our case...
February 13, 2019: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30741571/increased-autophagy-and-apoptosis-in-the-kidneys-of-intrauterine-growth-restricted-rats
#2
Tyrus Stewart, Mahmoud Kallash, V Matti Vehaskari, Sydney M Hodgeson, Diego H Aviles
BACKGROUND: IUGR has been associated with nephron loss and chronic kidney disease (CKD). MATERIALS AND METHODS: We examined autophagy and apoptosis markers in the kidneys of IUGR Sprague Dawley rats induced by maternal low protein diet (LP), comparing them to controls. The autophagy marker LC3B, the pro-apoptotic protein Bax, and the anti-apoptotic protein Bcl-2 were determined by quantitative immunoblotting. Immunohistochemical expressions of LC3B, Bax, and Bcl-2 were evaluated at 4 weeks age...
February 11, 2019: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30741063/thiol-disulfide-homeostasis-serum-ferroxidase-activity-and-serum-ischemia-modified-albumin-levels-in-neonatal-jaundice
#3
Ismail Topal, Cuma Mertoglu, Ilknur Surucu Kara, Gulsah Siranli, Gamze Gok, Özcan Erel
AIM: Hyperbilirubinemia causes oxidative stress. METHOD: We evaluated three oxidative stress markers in hyperbilirubinemic neonates (native/total thiol levels, serum ferroxidase activity and ischemia modified albumin (IMA), comparing these levels to levels in a control group to determine which indicators were the most sensitive. RESULTS: Serum from 124 term infants (67 with pathologic jaundice and 57 controls) were evaluated. Native/total thiol ratio was significantly lower (p:0...
February 11, 2019: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30729837/fetal-right-aortic-arch-a-quantitative-method-of-outcome-prediction
#4
Ming-Xuan Zhang, Bo-Wen Zhao, Mei Pan, Bei Wang, Xiao-Hui Peng, Ran Chen
OBJECTIVE: To investigate right aortic arches (RAA) quantitatively and risk-stratify fetuses with RAA prenatally. METHOD: A total of 143 singleton fetuses were enrolled. Four measurements were studied, including the angle and distance between the aortic arch (AO) and ductal arch (DA), the diameters of the AO and DA, and the distance growth rate (DGR). RESULT: A significant increase in mean distance was observed in the study group (4.89 ± 1...
February 7, 2019: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30689475/frequencies-of-immune-cells-in-the-human-small-bowel-during-normal-gestation-and-in-necrotizing-enterocolitis
#5
Paul Peterslund, Lene Rasmussen, Niels Qvist, Tine Plato Hansen, Steffen Husby, Sönke Detlefsen
BACKGROUND: Only few studies have quantitated the frequencies of immune cells in the small bowel mucosa and submucosa during gestation. The aims of this study were to describe the frequencies of T and B cells, eosinophils and mast cells in the normal small bowel mucosa and submucosa (NSB) in relation to gestational age (GA) and in the uninvolved small bowel (USB) of premature newborns with necrotizing enterocolitis (NEC). METHODS: We obtained 36 NSB specimens (GA 12-41 weeks) and 8 NEC-USB specimens (GA 24-32 weeks) from autopsies and surgeries and performed immunostaining for CD3, CD79a, BMK-13 and tryptase as well as the histochemical stains giemsa and toluidine blue...
January 28, 2019: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30676122/giant-hepatic-hemangioma-and-placental-chorangiosis-a-unique-case-of-stillbirth
#6
Michele Paudice, Leonardo Alett Peñuela, Flaminia Torielli, Bruno Spina, Valentino Remorgida, Francesca Buffelli, Ezio Fulcheri, Cesare Arioni, Valerio Gaetano Vellone
INTRODUCTION: Hepatic hemangiomas (HH) are benign vascular tumors, and when large, may contribute to fetal morbidity/mortality. Chorangiosis is placental villus capillary hypervascularity, probably linked with fetal hypoxia. CASE REPORT: We present a macrosomic stillbirth at 39 + 3 weeks of gestation with congestive heart failure (CHF) and myocardial infarction. A giant right hepatic lobe HH was present, along with placental chorangiosis. CONCLUSION: A common pathogenetic pathway between congenital HH and placental chorangiosis has not been reported...
January 24, 2019: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30667298/comparative-analysis-of-flow-cytometry-and-cytomorphology-for-neuroblastoma-cell-detection-in-effusion-and-bone-marrow-specimens
#7
Wensong Ye, Jinhu Wang, Wei Li, Hongqiang Shen
Background:Neuroblastoma (NB) frequently metastasizes to the bone marrow (BM), pleural and peritoneal cavities. The detection of NB cells in the BM and effusion specimens is important in clinical staging. Objective: The aim of this study was to compare the ability of flow cytometry (FCM) and cytomorphology (CM) in detecting NB cells. Materials and methods:From 21 patients with suspected NB metastasis, BM and effusion specimens were analyzed by FCM and CM. Results:A total of 16 effusion (76.2%) and 9 BM (42...
January 22, 2019: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30661433/absent-pulmonary-valve-syndrome-in-a-fetus-a-case-report-and-literature-review
#8
Wan-Ying Zhou, Yue-Yi Li, Xiao-Qin He, Yi-Bin Wang
INTRODUCTION: The main characteristics of absent pulmonary valve syndrome (APVS) include the absence or hypoplasia of the pulmonary valve, stenosis of the pulmonary valve annulus, and aneurysmal dilatation of the pulmonary trunk and its branches. In the more common type 1, the tetralogy of Fallot-like type, there is a ventricular septal defect, overriding aorta, pulmonary arterial dilatation, and absence of ductus arteriosus, The second type has an intact ventricular septum, less pulmonary artery dilatation, and a patent ductus arteriosus, with or without tricuspid atresia...
January 20, 2019: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30661487/congenital-large-cutaneous-hemangioma-with-arteriovenous-and-arterioarterial-malformations-a-novel-association
#9
Sihem Darouich, Houda Bellamine, Lasaad Mkaouar, Amira Ayachi, Mechaal Mourali
BACKGROUND: Congenital cutaneous hemangioma is a benign vascular lesion that is a leading cause of severe hemodynamic compromise in a fetus when it is of significant size and especially in association with arteriovenous malformation. CASE REPORT: A large cutaneous hemangioma involving the right arm of a 32-week-old male fetus was complicated by fetal hypotrophy, hydrops fetalis and neonatal death. Axillary arteriovenous fistulas and bilateral arterial carotid-subclavian anastomosis were demonstrated at autopsy...
January 19, 2019: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30646809/placental-growth-factor-and-endothelial-cell-specific-molecule-1-levels-in-discordant-and-concordant-twins-and-their-effects-on-fetal-growth
#10
Gülsüm Kadıoğlu Şimşek, Sema Arayici, Nilüfer Okur, Mehmet Büyüktiryaki, Fuat Emre Canpolat, Serife Suna Oguz
OBJECTIVE: We explored whether fetal twin growth was related to the levels of placental growth factor (PGF) and endothelial cell-specific molecule 1 (ESM-1) and sought correlations between cord blood PGF and ESM1 levels and birth weight discordance. METHODS: This was a prospective study. We evaluated 79 pairs of twins, thus 158 infants. Twenty-nine (37%) twins were naturally conceived; the remaining 50 (63%) resulted from assisted reproduction. RESULTS: Nine (11%) sets of twins were monochorionic...
January 16, 2019: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30636557/single-nucleotide-polymorphisms-of-ptpn22-gene-in-iranian-patients-with-ulcerative-colitis
#11
Maryam Sadr, Bobak Moazzami, Narjes Soleimanifar, Nazanin Elhamian, Arezoo Rezaei, Nasser Ebrahimi Daryani, Nima Rezaei
OBJECTIVES: Protein tyrosine phosphatase non-receptor type 22 gene (PTPN22) single-nucleotide polymorphisms (SNP) have been associated with a number of different autoimmune diseases. This study aimed to investigate the association of five polymorphisms of PTPN22 gene with susceptibility to ulcerative colitis (UC) in Iran. MATERIALS AND METHODS: A total of 67 patients diagnosed with UC (35 female and 32 male all under 18 years) and 93 healthy subjects were selected...
January 12, 2019: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30636554/trap-sequence-in-monochorionic-monoamniotic-mc-ma-discordant-twins-two-cases-treated-with-fetoscopic-laser-surgery
#12
Gabriele Tonni, Gianpaolo Grisolia, Paolo Zampriolo, Federico Prefumo, Anna Fichera, Paola Bonasoni, Mathilde Lefebvre, Suonavy Khung-Savatovsky, Fabien Guimiot, Jonathan Rosenblatt, Edward Araujo Júnior
INTRODUCTION: Ablation of the acardiac twin umbilical cord in the TRAP protects the normal donor twin. MATERIALS AND METHODS: Two case descriptions, one of interstitial laser photocoagulation and one of laser umbilical cord occlusion (L-UCO) of the acardiac twin in monochorionic monoamniotic pregnancies are reported. RESULTS: L-UCO in two pregnancies with TRAP syndrome in the second trimester resulted in intrauterine fetal death in both cases after 1 month...
January 12, 2019: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30633617/cyp24a1-variants-in-two-chinese-patients-with-idiopathic-infantile-hypercalcemia
#13
Yan Sun, Jun Shen, Xuyun Hu, Yu Qiao, Jianmei Yang, Yiping Shen, Guimei Li
BACKGROUND: Biallelic pathogenic variants in CYP24A1 can cause idiopathic infantile hypercalcemia (HCINF). METHODS: We report 2 additional molecular abnormalities in 2 Chinese children with CHINF1. RESULTS: Biallelic variants in CYP24A1 were found in two patients. Patient One was compound heterozygous for c.449 + 1G > T and c.1426_1427delCT. Patient Two was compound heterozygous for c.1310C > A and c.1426_1427delCT. The c...
January 11, 2019: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30633605/placental-pathology-in-beckwith-wiedemann-syndrome-according-to-genotype-epigenotype-subgroups
#14
Lucie Gaillot-Durand, Frederic Brioude, Claire Beneteau, Frédérique Le Breton, Jerome Massardier, Lucas Michon, Mojgan Devouassoux-Shisheboran, Fabienne Allias
OBJECTIVES: To evaluate the frequency of placental pathological lesions in Beckwith-Wiedemann syndrome (BWS), an overgrowth disorder that exhibits etiologic molecular heterogeneity and variable phenotypic expression. MATERIALS AND METHODS: The study included 60 BWS patients with a proven molecular diagnosis and a placental pathological examination. Placentomegaly, placental mesenchymal dysplasia (PMD), chorangioma/chorangiomatosis, and extravillous trophoblastic (EVT) cytomegaly were evaluated and their frequencies in the different molecular subgroups were compared...
January 11, 2019: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30633599/cardiac-findings-in-fetal-and-pediatric-autopsies-a-15-year-retrospective-review
#15
Mana Taweevisit, Paul Thorner
INTRODUCTION: Congenital heart defects (CHDs) carry significant morbidity and mortality in pediatric patients. This study determined the spectrum of CHDs based on fetal and pediatric autopsies. METHODS: Autopsy reports over a 15-year period were reviewed. Postmortem findings were correlated with echocardiography records. RESULTS: From 608 autopsies, 119 cases with CHDs were identified (11% of fetal, 53% of neonatal, 18% of infant, and 4.5% of childhood autopsies)...
January 11, 2019: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30614362/the-work-of-becerra-solano-et-al-2008-on-amniotic-disruption-adhesion-mutilation-adam-or-dab-sequence-deserves-comment
#16
John M Opitz
No abstract text is available yet for this article.
January 7, 2019: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30600762/antenatal-cytomegalovirus-infection-screening-results-of-32-188-patients-in-a-tertiary-referral-center-a-retrospective-cohort-study
#17
Yasemin Sert, A Seval Ozgu-Erdinc, Sibel Saygan, Yaprak Engin Ustun
OBJECTIVE: The present study aimed to determine cytomegalovirus (CMV) seroprevalence, low and high avidities, and the frequency of polymerase chain reaction (PCR) positivity and neonatal disease in an obstetric population. MATERIALS AND METHODS: Sera of 32,188 women were tested for CMV IgM and/or CMV IgG between 2008 and 2017. Those with IgM were tested for antibody avidity. Of those with low avidity, PCR was offered. RESULTS: The frequency of CMV IgG and IgM seropositivity was 62% (16,759/26,854) and 22% (74/32,188)...
January 2, 2019: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30600750/direct-immunofluorescence-results-of-the-skin-biopsy-and-frequency-of-systemic-involvement-in-children-with-henoch-schonlein-purpura
#18
Mehdi Ataeepour, Maryam Monajemzadeh, Peyman Sadeghi, Vahid Ziaee
OBJECTIVE: Henoch-Schonlein purpura (HSP) is a common vasculitis in children that can present with multi-organ involvement. The aim of this study is to investigate the correlation between direct immunofluorescence (DIF) results and the systemic involvements of the HSP in pediatric patients. MATERIAL AND METHODS: Those HSP patients with leukocytoclastic vasculitis on their biopsies who also had documented immunoglobulin/complement deposition by DIF were included in our study...
January 2, 2019: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30600745/prenatal-diagnosis-and-management-of-ectopia-cordis-varied-presentation-spectrum
#19
Gürcan Türkyilmaz, Sahin Avcı, Tugba Sıvrıkoz, Emircan Erturk, Umut Altunoglu, Sebnem Erol Turkyilmazlmaz, Ibrahim Halil Kalelioglu, Recep Has, Atil Yuksel
BACKGROUND: Ectopia cordis (EC) is a congenital anomaly associated with heart defects and extracardiac malformations. OBJECTIVES: We determined the various presentations of EC diagnosed in our center between 2010 and 2017. RESULTS: Seven fetuses from six pregnancies with EC were detected, five during the first trimester. Three were from multiple pregnancies, and both twins had EC in one monochorionic-monoamniotic pregnancy. Abdominal wall defects were detected in six fetuses...
January 2, 2019: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30595071/neonatal-acute-liver-failure-associated-with-angioinvasive-hepatic-zygomycosis
#20
Suvradeep Mitra, Somosri Ray, Gurwinder Kaur, Praveen Kumar, Harsimran Kaur, Uma Saikia
BACKGROUND: Neonatal acute liver failure (NALF) is often a fatal condition. Zygomycosis is a fungal infection that is often fatal in both adults and infants. Only a few cases of hepatic zygomycosis are reported in the literature and they are invariably associated with immunosuppression. MATERIALS AND METHODS: Post-mortem liver biopsy from a 14-day old neonate demonstrated confluent panacinar necrosis with angioinvasive zygomycosis. The limited work-up could not rule out an underlying immunodeficiency...
December 31, 2018: Fetal and Pediatric Pathology
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