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Fetal and Pediatric Pathology

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https://www.readbyqxmd.com/read/28481156/association-of-ptpn22-single-nucleotide-polymorphisms-with-celiac-disease
#1
Majid Aflatounian, Arezou Rezaei, Maryam Sadr, Amene Saghazadeh, Nazanin Elhamian, Hengameh Sadeghi, Fatemeh Motevasselian, Fatemeh Farahmand, Gholamhossein Fallahi, Farzaneh Motamed, Mehri Najafi, Nima Rezaei
OBJECTIVES: Celiac disease is a chronic autoimmune disease in which gene-environment interactions cause the immune system to unfavorably react to naturally gluten-containing foods. PTPN22 plays a crucial role in regulating the function of various cells of the immune system, particularly T cells. Polymorphisms of the PTPN22 gene have been associated with many autoimmune diseases. The present genetic association study was conducted to investigate the possible associations between PTPNTT single nucleotide polymorphisms (SNPs) and celiac disease in an Iranian population...
May 8, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28481137/angiotensin-converting-enzyme-gene-polymorphism-in-children-with-idiopathic-nephrotic-syndrome-effect-on-biopsy-findings
#2
Maryam Monajemzadeh, Mahshid Hesami, Reza Shahsiah, Mohammad Vasei, Safoora Hooshmand, Parin Tanzifi, Niloofar Hajizadeh, Neamatollah Ataei, Mehryar Mehrkash, Faezeh Javadi Larijani, Mastaneh Moghtaderi, Behnaz Bazargani, Reza Khorvash, Narjes Soleimanifar
OBJECTIVE: Angiotensin converting enzyme (ACE) converts angiotensin I into angiotensin II. The ACE gene shows an I/D polymorphism, which correlates with ACE concentrations. The aim of this study is to evaluate the distribution of the ACE I/D genotype in children with idiopathic nephrotic syndrome (INS) and healthy controls and study the effect of this polymorphism on clinical and pathologic findings. METHODS: ACE gene I/D polymorphism of 104 patients with INS and 119 controls were determined...
May 8, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28481134/the-role-of-oxidative-stress-in-the-clinical-manifestations-of-childhood-asthma
#3
Aleksandra Topic, Djordje Francuski, Aleksandra Nikolic, Katarina Milosevic, Snezana Jovicic, Bojan Markovic, Mirjana Djukic, Dragica Radojkovic
INTRODUCTION: The significance of oxidative stress in pathogenesis of childhood asthma was recognized, but its role in the clinical manifestations of disease is still unclear. MATERIALS AND METHODS: The study was conducted in 96 asthmatic children. The urinary biomarker of oxidative stress, 8-oxo-7,8-dihydro-2-deoxyguanosine (8-oxodG/creatinine) was determined by using HPLC-MS/MS. ELISA was performed to measure myeloperoxidase (MPO) and Cu,Zn- superoxide dismutase (Cu,Zn-SOD) in serum...
May 8, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28481127/fetal-cardiac-impairment-in-nitrofen-induced-congenital-diaphragmatic-hernia-postmortem-microcomputed-tomography-imaging-study
#4
Gloria Pelizzo, Valeria Calcaterra, Claudio Lombardi, Rossana Bussani, Vanessa Zambelli, Annalisa De Silvestri, Ana Custrin, Manuel Belgrano, Floriana Zennaro
INTRODUCTION: We assessed the post-mortem micro-CT utility to evaluate fetal cardiac impairment in nitrofen-induced congenital diaphragmatic hernia (CDH). METHODS: At 9.5d postconception (dpc), pregnant rats were exposed to nitrofen. At +18 and +21dpc, fetuses were harvested by cesarean section. Postmortem micro-CT and autopsy were performed. Fetuses were assigned to three experimental groups: Control group (C), Nitrofen group (N, exposition to nitrofen without CDH), CDH group...
May 8, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28481124/refractory-chylous-ascites-secondary-to-neuroblastoma
#5
Vidya B Pai, Richard Benator, Benjamin Torres
BACKGROUND: Neonatal ascites is a complex condition that often poses a diagnostic dilemma for the clinician. We present a case of neonatal ascites secondary to neuroblastoma. CASE PRESENTATION: Our neonatal patient had congenital and recurrent chylous ascites despite multiple postnatal paracenteses, which resolved with complete resection of a retroperitoneal neoplasm. CONCLUSION: Congenital neuroblastoma may present with chylous ascites, probably due to disruption of the lymphatic vasculature...
May 8, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28453380/lipids-on-the-second-day-in-ischemic-and-normoxemic-term-neonates
#6
Miljana Z Jovandaric, Tatjana V Nikolic, Svetlana Milenkovi, Biljana Otaševi, Violeta V Bankovic, Petar I Ivanovski, Milos M Jesic
INTRODUCTION: In hypoxic newborns requiring oxygen, lipid peroxidation affects the peripheral blood lipids. OBJECTIVES: Determine the influence of perinatal oxygen therapy for hypoxia on serum lipid concentrations on the second day of life. MATERIALS AND METHODS: Our study included 50 newborns with perinatal hypoxia requiring oxygen and 50 healthy newborns without oxygen therapy. Arterialized capillary blood was taken for categorization of hypoxia (pO2) after birth in both groups...
April 28, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28453379/pseudoamniotic-band-syndrome-post-fetal-thoracoamniotic-shunting-for-bilateral-hydrothorax
#7
Michelle Han, Yalda Afshar, Andrew H Chon, Emily Scibetta, Rashmi Rao, Ramen H Chmait
INTRODUCTION: Pseudoamniotic band syndrome (PABS) occurs iatrogenically after fetal surgery or amniocentesis due to chorioamniotic membrane separation. Separation of the amnion from the chorion can expand to form fibrous amniotic bands that can envelope fetal limbs or the umbilical cord, with consequences ranging from limb constriction to fetal demise. CASE REPORT: We report a case of bilateral fetal pleural effusions at 27 weeks' gestation treated by bilateral thoracoamniotic shunts...
April 28, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28453372/renal-tubular-mitochondrial-abnormalities-in-complex-ii-iii-respiratory-chain-deficiency
#8
Joel France, Isa Ashoor, Randall Craver
Defects in the respiratory chain may present with a wide spectrum of clinical signs and symptoms. In this "Images in Pathology" discussion we correlate the clinical, histologic, and ultrastructural findings in a 12-year-old male with a complex II/III respiratory chain deficiency and kidney dysfunction.
April 28, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28409691/to-the-editor-concerning-kaya-et-al
#9
Gabriela Guzmán-Navarro, Fabiola Castorena-Torres, Víctor Javier Lara-Díaz
No abstract text is available yet for this article.
April 14, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28394716/lethal-congenital-malformations-in-fetuses-antenatal-ultrasound-or-perinatal-autopsy
#10
Sumit Grover, Bhavna Garg, Neena Sood, Kamaldeep Arora
BACKGROUND: Congenital malformations (CMF) are major causes of fetal demise which can be detected antenatally by Ultrasonography (USG). METHODS: We studied 100 perinatal autopsies for CMF. Sensitivity of USG was determined and accuracy of USG with that of autopsy was compared. RESULTS: At Autopsy 134 individual CMF were seen in 40 cases. The sensitivity of USG in detecting major CMF was 54.47%. A complete agreement between autopsy and USG findings was seen in 13/40 (32...
April 10, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28394668/use-of-cortisol-and-adrenal-weight-at-pediatric-postmortem
#11
Rebecca Morrison, Jansher Khan, Peter Galloway, Jane McNeilly, Syed Faisal Ahmed, Dawn Penman
We studied the relationship between adrenal weight and postmortem cortisol level in cases of infant death, and examined use of these measurements in adrenal insufficiency. We analyzed procurator-fiscal postmortem reports in the West of Scotland over a three year period. Combined adrenal weight was expressed as percentage of total body weight (%TBW). Of 106 cases, median (5(th), 95(th)) %TBW was 0.056 (0.025, 0.23) and median plasma cortisol was 8.4 ug/dl (1.0, 47.1). There was no correlation between %TBW and plasma cortisol (r = 0...
April 10, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28394646/prenatal-diagnosis-of-a-case-of-norrie-disease-with-late-development-of-bilateral-ocular-malformation
#12
Li Hong Wu, Li-Hong Chen, Hongning Xie, Ying-Jun Xie
We report a case of Norrie disease, diagnosed by prenatal ultrasound, confirmed by Sanger sequencing of the DNP gene from the aborted fetal cord blood and histologically. Prenatal ultrasound revealed no abnormality in either eye at 22(+1) and 31(+4) gestational weeks, but at 36(+5) gestational weeks both eyes had massive vitreous cavity opacities with complete retinal detachment. Norrie disease was initially suspected because of an older male sibling with the disease. To our knowledge, prenatal ultrasound diagnosis of Norrie disease has been previously described only one case in 1993 in a 34-week-old fetus...
April 10, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28368774/pregnancy-outcomes-following-ulipristal-acetate-emergency-contraception-failure-a-report-of-five-cases
#13
Zeynep Ozturk, Emine Akgul
INTRODUCTION: The emergency contraceptive ulipristal acetate (UPA) 30 mg is increasingly used by women, but there is no published data on UPA exposure in pregnancy. CASE REPORT: Here we describe five cases of unintended pregnancies following the use of UPA for emergency contraception. Of five pregnant women exposed to UPA, one decided to terminate the pregnancy for personal reasons. Two of them experienced premature rupture of membranes and the babies were born large for gestational age (LGA)...
April 3, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28368675/higher-level-of-oxidative-stress-markers-in-small-for-gestational-age-newborns-delivered-by-cesarean-section-at-term
#14
Hulya Dede, Ozguc Takmaz, Esra Ozbasli, Suat Dede, Mete Gungor
INTRODUCTION: The aim of our study was to determine lipid peroxidation products and antioxidant enzyme activity in umbilical cord blood of small for gestational age (SGA) neonates. MATERIALS AND METHODS: Umbilical cord arterial blood samples were collected from 21-term singleton SGA newborn infants and 21 age- and sex-matched appropriate for gestational age (AGA) term neonates prospectively born by elective cesarean section for determination of malondialdehyde (MDA) as a marker of lipid peroxidation and superoxide dismutase (SOD) for antioxidant activity...
April 3, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28332892/outcomes-in-continuing-pregnancies-diagnosed-with-a-severe-fetal-abnormality-and-implication-of-antenatal-neonatology-consultation-a-10-year-retrospective-study
#15
Laura Hostalery, Barthélémy Tosello
PURPOSE: To describe a population choosing to continue their pregnancy despite a severe fetal abnormality and to evaluate the role of antenatal neonatology consultation in perinatal decision-making. METHODS: A 10-year (2005-2015) retrospective descriptive study in a single Multidisciplinary Prenatal Diagnosis Center in South France. A series of pregnancies with severe fetal abnormalities were collected by a person outside the decision making process and/or the child's care...
March 23, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28266898/hepatic-malignancy-in-an-infant-with-wolf-hirschhorn-syndrome
#16
Sara Rutter, Raffaella A Morotti, Steven Peterec, Patrick G Gallagher
INTRODUCTION: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome involving deletions of the chromosome 4p16 region associated with growth failure, characteristic craniofacial abnormalities, cardiac defects, and seizures. CASE REPORT: This report describes a six-month-old girl with WHS with growth failure and typical craniofacial features who died of complex congenital heart disease. Genetic studies revealed a 9.8 Mb chromosome 4p-terminal deletion. At autopsy, the liver was grossly unremarkable...
March 7, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28524764/lack-of-association-between-stat4-single-nucleotide-polymorphisms-and-iranian-juvenile-rheumatoid-arthritis-patients
#17
Saeed Aslani, Mahdi Mahmoudi, Arash Salmaninejad, Shiva Poursani, Vahid Ziaee, Nima Rezaei
Juvenile rheumatoid arthritis (JRA) is a common chronic systemic autoimmune disease in children. Single nucleotide polymorphisms (SNPs) of signal transducer and activator of transcription 4 (STAT4) gene are suspected to have association with the risk of autoimmune diseases. Previous investigations have indicated that the STAT4 rs7574865 T allele was significantly associated with rheumatoid arthritis. In this study, we aimed to evaluate the association of STAT4 SNPs with JRA in Iranian population. T allele of STAT4 rs7574865 SNP was less frequent in patients than in controls, and the difference was not significant (p = 0...
March 2, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28426344/primary-pediatric-breast-lesions-comparing-the-prevalence-of-malignancies-in-the-middle-east-with-north-america-review-of-1031-cases
#18
Justine S Broecker, Nasim Khoshnam, Laura Thompson, Shady Anis, Nora Kamal, Scott Gillespie, Diana Kantarovich, Diana Metry, Mary Pate Mills, Rachel Drummey, Brianna Williams, Bahig M Shehata
Benign breast masses are uncommon but are becoming more recognized among the pediatric population. Malignant breast lesions are very rare. The aim of our study was to review and compare the demographics, clinical presentation, treatment, and outcomes of breast lesions, including primary malignancies, and to discuss theories that may explain why there is an increased rate of breast cancers diagnosed at a younger age in the Egyptian population. A total of 1031 cases were reviewed. Comparisons were made between the Egyptian (n = 846) and US (n = 185) cohorts...
April 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28426343/de-novo-mutation-of-kat6b-gene-causing-atypical-say-barber-biesecker-young-simpson-syndrome-or-genitopatellar-syndrome
#19
Guoqiang Li, Niu Li, Juan Li, Yu Ding, Tingting Yu, Xiumin Wang, Jian Wang
Mutations in KAT6B gene are responsible for Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS), with most mutations occurring in exon 18. A 4-year-old Chinese boy presented with short stature but no other clinical features of SBBYSS or GPS had a de novo novel nonsense pathogenic mutation in exon 14 of the KAT6B gene at position c.2636T>A (p.Leu879X). The correlation analysis of genotype-phenotype indicated distinctive clinical features (short stature, growth hormone deficiency, and delayed bone age) compared with the classical mutations of KAT6B gene...
April 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28103116/acute-leukemia-and-concurrent-mediastinal-germ-cell-tumor-case-report-and-literature-review
#20
Luke Maese, K David Li, Xinjie Xu, Zeinab Afify, Christian N Paxton, Angelica Putnam
There is a known association of primary nonseminomatous mediastinal germ cell tumors (NSMGCT) and hematologic malignancy in younger males not linked to treatment. When combined these two rare entities convey a very poor prognosis. Here we report a 16-year-old male with an anterior mediastinal mass diagnosed as a malignant germ cell tumor based on elevation of serologic markers. He was found to have acute leukemia with megakaryocytic differentiation several days later. We focus our report on the pathologic findings, including a review of the literature, and a novel molecular analysis of the germ cell tumor...
April 2017: Fetal and Pediatric Pathology
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