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Fetal and Pediatric Pathology

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https://www.readbyqxmd.com/read/28409691/to-the-editor-concerning-kaya-et-al
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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/28426344/primary-pediatric-breast-lesions-comparing-the-prevalence-of-malignancies-in-the-middle-east-with-north-america-review-of-1031-cases
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/27983885/multifocal-kaposiform-hemangioendothelioma-causing-massive-fetal-chylous-ascites
#12
Hyo Jung An, Eun Jung Jung, Mi Seon Kang, Hwa Jin Cho, Kyung Han Nam, Jung Mi Byun, Dae Hoon Jeong, Young Nam Kim
Kaposiform hemangioendothelioma (KHE) is a locally aggressive vascular tumor that usually occurs in soft tissues of the extremity and rarely in the retroperitoneum. We report a unique case of isolated massive fetal ascites attributed to KHE, involving the retroperitoneum and multiple visceral organs, along with the Kasabach-Merritt phenomenon. We suspect that retroperitoneal KHE might have caused massive fetal ascites because of its high potential to invade the lymphatic vessels aggressively in the retroperitoneal space, which possibly permits intestinal lymph leakage into the peritoneal cavities...
April 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27983879/effects-of-simulated-mobile-phone-electromagnetic-radiation-on-fertilization-and-embryo-development
#13
Hong Chen, Zaiqing Qu, Wenhui Liu
This study investigated the effects of 935-MHz electromagnetic radiation (ER) on fertilization and subsequent embryonic development in mice. Ovulating mice were irradiated at three ER intensities for 4 h/day (d) or 2 h/d for three consecutive days; the ova were then harvested for in vitro fertilization to observe the 6-h fertilization rate (6-FR), 72-h morula rate (72-MR), and 110-h blastula rate (110-BR). Compared with the control group, the 6-FR, 72-MR, and 110-BR were decreased in the low ER intensity group, but the differences were not significant; in the mid- and high-intensity ER groups, 72-MR and 110-BR in the 4 h/d and 2 h/d subgroups were decreased, showing significant differences compared with the control group...
April 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27935335/pediatric-chondromyxoid-fibroma-like-osteosarcoma
#14
Matthew Stark, Stephen D Heinrich, Raju Sivashanmugam, Dane Mackey, Ewa Wasilewska, Randall Craver
Chondromyxoid fibroma-like osteosarcoma (CMF-OS) is a low-grade osteosarcoma, often misdiagnosed on initial biopsy as a benign lesion, with five cases previously described. We report a 13-year-old male with an intramedullary lytic CMF-OS of the right tibial proximal metaphysis with cortical destruction and soft tissue extension. Diagnosis was based on malignant new bone formation, increased mitotic figures, lamellar bone permeation with bony destruction, and correlation with imaging studies. There were no metastasis at presentation and the tumor showed good response to standard chemotherapy with >95% necrosis...
April 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27935331/ciliated-foregut-cyst-of-gallbladder-a-first-in-childhood-and-review-of-literature
#15
Poojan Agarwal, Arvind Ahuja, Minakshi Bhardwaj, Amita Sen
Ciliated foregut cyst (CFC) is a rare developmental anomaly. We report first case of CFC of gallbladder diagnosed in a 9-year-old child. CFCs are usually located above the diaphragm, commonly in a bronchus or oesophagus. A duplex gallbladder was originally suspected, but histology confirmed the CFC. gallbladder.
April 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27841711/lipids-and-adipokines-in-cord-blood-and-at-72%C3%A2-h-in-discordant-dichorionic-twins
#16
Svetlana Milenković, Borisav Jankovic, Ljiljana Mirković, Miljana Z Jovandaric, Dušan Milenković, Biljana Otašević
BACKGROUND: Intrauterine growth restriction (IUGR) is a risk factor for developing metabolic syndrome later in life. We explored whether adipokine concentrations in cord blood (CB) and on day 3 (D3) were related to impaired fetal growth and lipids in IUGR twins. PATIENTS AND METHODS: Thirty-six discordant (birth weight [BW] discordance ≥20% calculated in relation to the heavier co-twins) and 42 concordant (BW discordance ≤ 10%) twin pairs were included. RESULTS: In IUGR twins, both adiponectin/BW and triglyceride (TG) levels were significantly higher, while total cholesterol, high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol were lower in CB...
April 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27827548/is-preterm-labor-influenced-by-the-maternal-fetal-interface
#17
Ana Luísa Areia, Pedro Rodrigues, Ana Alarcão, Ana Ladeirinha, Paulo Moura, Lina Carvalho
Preterm labor (PTL) accounts for almost 11% of deliveries, and is a major cause of neonatal morbidity and mortality. T regulatory (Treg) cells may prevent fetal rejection by the maternal immune system under the influence of progesterone. Case control study was conducted to determine Treg cells, IL-10, TGF-β, and membrane progesterone receptorα (mPRα) in the maternal-fetal interface (placenta), including eight pregnant women with threatened PTL (study group) and 16 normal-delivery women (control group). Comparing study group versus control, mean gestational age of delivery differed significantly (p = 0...
April 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28129011/intratracheal-keloid
#18
Randall Craver
BACKGROUND: Keloidal scarring can complicate surgical procedures. CASE REPORT: This 21-month-old African-American child developed a keloid around his tracheostomy that extended into the trachea. CONCLUSION: Keloidal formation from a tracheostomy site can extend into the trachea.
February 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28033481/fatal-scopulariopsis-brumptii-in-a-pediatric-immunocompromised-host
#19
Louise Helander, Matthew Stark
Scopulariopsis species cause a broad range of disease, from superficial skin infections to often fatal disseminated disease in the immunocompromised that is refractory to standard antifungal treatment. This report describes the first case of fatal disseminated Scopulariopsis brumptii in a pediatric patient with hyper-IgM syndrome status post bone marrow transplant.
February 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27935326/role-of-cd56-in-normal-kidney-development-and-wilms-tumorigenesis
#20
REVIEW
Li-Wei Yap, Jesper Brok, Kathy Pritchard-Jones
The cell-surface glycoprotein CD56 has three major isoforms that play important roles in cell adhesion and signaling, which may promote cell proliferation, differentiation, survival, or migration. It is an important molecule in normal kidney development and acts as a key marker in Wilms tumor stem and progenitor cells. Here, we review the structural and genetic features of the CD56 glycoprotein, and summarize its roles in the normal versus diseased metanephric blastema. We discuss areas of CD56-related research that may complement or improve existing Wilms tumor treatment strategies, including the antibody-drug conjugate lorvotuzumab mertansine that binds to CD56...
February 2017: Fetal and Pediatric Pathology
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