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Fetal and Pediatric Pathology

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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
#1
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
#2
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/28103116/acute-leukemia-and-concurrent-mediastinal-germ-cell-tumor-case-report-and-literature-review
#3
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...
January 19, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28129011/intratracheal-keloid
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/27762667/asymptomatic-herpes-simplex-virus-infection-in-iranian-mothers-and-their-newborns
#7
Ahmad Tavakoli, Seyed Hamidreza Monavari, Farah Bokharaei-Salim, Hamidreza Mollaei, Bahman Abedi-Kiasari, Fatemeh Hoda Fallah, Helya Sadat Mortazavi
This study aims to determine the prevalence of herpes simplex virus (HSV) infection among pregnant women as well as congenital infection of their newborns in Tehran. One hundred samples of blood sera from pregnant women were analyzed for the presence of HSV specific antibodies. Umbilical cord blood samples from the newborns were analyzed for the presence of HSV DNA using real-time PCR. HSV IgG and IgM antibodies were found in 97% and 2% of pregnant women, respectively. Of all the 100 cord blood samples, 6 were positive for HSV DNA in which 2 cases were from mothers who had detectable IgM...
February 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27732119/association-of-ptpn22-gene-polymorphisms-with-susceptibility-to-juvenile-idiopathic-arthritis-in-iranian-population
#8
Tayyeb Bahrami, Samaneh Soltani, Kasra Moazzami, Mir Saeed Yekaninejad, Arash Salmaninejad, Ehsan Soltaninejad, Vahid Ziaee, Nima Rezaei
Juvenile idiopathic arthritis (JIA), the most common cause of chronic arthritis in children, is a complex immune-mediated disease with considerable long-term morbidity and mortality. According to previous studies, PTPN22 gene has been associated with JIA in several populations. In the present study, we attempted to determine the association of PTPN22 single nucleotide polymorphisms (SNPs) with susceptibility to JIA in Iranian population. Using the Real-time PCR allelic discrimination method, samples consisting of 55 unrelated patients and 93 healthy controls were genotyped...
February 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27732116/variability-in-clinical-and-anatomical-manifestation-of-velocardiofacial-syndrome-presents-diagnostic-and-policy-uncertainty
#9
REVIEW
Shanna Burke, Peter Maramaldi
OBJECTIVE: This study examined the complexity and myriad clinical manifestations and expressions of velocardiofacial syndrome (VCFS). It aimed to determine if VCFS invariably met the three disability criteria for the Compassionate Allowance List (CAL) program administered by the Social Security Administration (SSA). METHODS: A systematic evaluative review of the literature found in 10 academic databases was completed. Inclusion criteria of the search terms yielded 1,383 initial manuscripts...
February 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27690720/alpha-fetoprotein-and-fanconi-anemia-relevance-to-dna-repair-and-breast-cancer-susceptibility
#10
REVIEW
Nisha A Lakhi, Gerald J Mizejewski
Elevations of serum alpha-fetoprotein (sAFP) have been reported in fetal and infant states of anemia. Fanconi anemia (FA) belongs to a family of genetic instability disorders which lack the capability to repair DNA breaks. The lesion occurs at a checkpoint regulatory step of the G2 to mitotic transition, allowing FA cells to override cell-cycle arrest. FA DNA repair pathways contain complementation groups known as FANC proteins. FANC proteins form multi-protein complexes with BRCA proteins and are involved in homologous DNA repair...
February 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27690709/glomerular-glucocorticoid-receptors-expression-and-clinicopathological-types-of-childhood-nephrotic-syndrome
#11
Yasser Gamal, Ahlam Badawy, Salwa Swelam, Mostafa S K Tawfeek, Eman Fathalla Gad
Glucocorticoids are primary therapy of idiopathic nephrotic syndrome (INS). However, not all children respond to steroid therapy. We assessed glomerular glucocorticoid receptor expression in fifty-one children with INS and its relation to response to steroid therapy and to histopathological type. Clinical, laboratory and glomerular expression of glucocorticoid receptors were compared between groups with different steroid response. Glomerular glucocorticoid expression was slightly higher in controls than in minimal change early responders, which in turn was significantly higher than in minimal change late responders...
February 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27629571/nasal-fibrolipomatous-hamartoma-an-idiosyncratic-connective-tissue-malformation-in-an-infant
#12
Gratiana Hermann, Basel Jabarin, Tal Marom, Bernard Barzilay, Arnon Elizur, Ephraim Eviatar, Jacob Pitaro
We describe a congenital mass in the nasopharynx of an infant presenting with dyspnea and feeding difficulties. Magnetic resonance imaging demonstrated 2 separate polypoid nasal cavity masses that were endoscopically resected. Histologically, both lesions were composed of mature adipose tissue with broad fibrous bands and several foci of brown fat. PLAG-1 and HMGA-2 were negative by immunostains. The best diagnosis was a fibrolipomatous hamartoma.
February 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27629439/impact-of-gestational-diabetes-mellitus-and-maternal-obesity-on-cord-blood-dynamic-thiol-disulfide-homeostasis
#13
Sibel Ozler, Efser Oztas, Ozcan Erel, Basak Gumus Guler, Merve Ergin, Dilek Uygur, Nuri Danisman
AIM: Our aim in this study was to investigate the effect of maternal obesity and gestational diabetes mellitus (GDM) on cord blood dynamic thiol/disulfide homeostasis. METHODS: A prospective case-control study was carried out in 125 pregnant women (27 GDM, 30 obese, 68 controls). Cord blood samples were collected from all participants and native thiol-disulfide exchanges were examined with automated method enabling the measurement of both sides of thiol-disulfide balance...
February 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27559858/the-relationship-between-skinfold-thickness-and-leptin-ghrelin-adiponectin-and-resistin-levels-in-infants-of-diabetic-mothers
#14
Mustafa Kara, Zerrin Orbak, Hakan Döneray, Behzat Ozkan, Fatih Akcay
This study aimed to investigate the relationship between skinfold thickness and serum leptin, ghrelin, adiponectin, and resistin levels in infants of diabetic mothers. Biochemical parameters were also similar for the two groups (infants of diabetic mothers and controls) (p > 0.05). We confirmed that there was a negative correlation between birth weight and serum ghrelin level (p < 0.05) in the two groups. When it was evaluated for control newborns, a positive correlation between abdominal circumference and serum resistin level was found in the controls (p < 0...
February 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27983885/multifocal-kaposiform-hemangioendothelioma-causing-massive-fetal-chylous-ascites
#15
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...
December 16, 2016: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27983879/effects-of-simulated-mobile-phone-electromagnetic-radiation-on-fertilization-and-embryo-development
#16
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...
December 16, 2016: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27935335/pediatric-chondromyxoid-fibroma-like-osteosarcoma
#17
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...
December 9, 2016: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27935331/ciliated-foregut-cyst-of-gallbladder-a-first-in-childhood-and-review-of-literature
#18
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.
December 9, 2016: 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
#19
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...
November 14, 2016: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27827548/is-preterm-labor-influenced-by-the-maternal-fetal-interface
#20
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...
November 9, 2016: Fetal and Pediatric Pathology
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