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Fetal and Pediatric Pathology

Hui Wang, Caiqun Luo, Yang Liu, Shengli Li, Niping Jiang, Guanglin Zhang, Jiansheng Xie, Mei Zhong
BACKGROUND: The clinical relevance of uniparental disomy (UPD16) for chromosome 16 is currently unclear. METHODS AND RESULT: We performed chromosome microarray analysis on two fetus and their placentas, fluorescence in situ hybridization (FISH) to exclude the hidden chr16 trisomy mosaicism in the fetuses, and clinical whole-exome sequencing to assess for homozygosity mutations of autosomal-recessive diseases. RESULTS: Microarray analysis of two fetuses had UPD16...
November 23, 2018: Fetal and Pediatric Pathology
R Beverly Raney, Christophe Bergeron, David Parham
We have chosen to translate what we believe to be the first publication of a well-documented case of a young patient with embryonal rhabdomyosarcoma. The author, M. Léon Bérard, was a hospital fellow working in the department of M. Vincent at the Charité Hospital. The document was presented to La Société des Sciences médicales de Lyon (The Society of Medical Sciences of Lyon, France), in July,1894. The translation follows below.
November 23, 2018: Fetal and Pediatric Pathology
Moupali Ghosh, Nelofar Islam, Arindam Ghosh, Priyanka Maity Chaudhuri, Koushik Saha, Uttara Chatterjee
BACKGROUND: Pleuropulmonary blastoma (PPB) is a childhood malignancy known to be associated with congenital pulmonary airway malformation (CPAM). CASE REPORT: An 18 months boy presented with respiratory distress. Computed tomography (CT) scans revealed a large right-sided lung mass. Fine needle aspiration cytology (FNAC) showed sheets and clusters of small round to oval cells with scanty cytoplasm. The possibility of PPB was suggested. Trucut biopsy from the mass confirmed the diagnosis of PPB, of at least type II...
October 25, 2018: Fetal and Pediatric Pathology
Gargi Kapatia, Suvradeep Mitra, Kirti Gupta, Prema Menon, K L N Rao
BACKGROUND: Vascular tumors of spleen represent a wide spectrum of lesions, ranging from benign to highly aggressive neoplasms. Among the benign tumors, localized hemangiomas are the most frequently encountered. Splenic hemangiomatosis is seldom seen especially in the pediatric population with anecdotal cases described in the literature. CASE REPORT: We present of 6-month-old child presenting with abdominal distention. The resected spleen was totally replaced with a hemangiomatous lesion...
October 25, 2018: Fetal and Pediatric Pathology
Erdem Fadiloglu, Gonca Ozten, Canan Unal, Beril Talim, Haluk Topaloglu, Mehmet Sinan Beksac
GOAL: We evaluated the potential for prenatal diagnosis of merosin-negative muscular dystrophies by immunohistochemistry. MATERIALS AND METHODS: This is a retrospective study of 12 pregnancies with merosin-negative muscular dystrophy in a prior child. Chorionic villus sampling (CVS) was performed between 11th to 13th gestational weeks. Merosin immunohistochemical studies were performed on trophoblastic cells. RESULTS: Two of 12 were "merosin-negative," both were from the same family...
October 25, 2018: Fetal and Pediatric Pathology
Christopher Antonio Febres Aldana, Robert J Poppiti
INTRODUCTION: Inadequate perfusion and abnormal cellular metabolism are among the mechanisms of organ dysfunction in sepsis. Concomitant hepatorenal failure during the late phase of sepsis is poorly understood. CASE REPORT: The autopsy of a child who developed sepsis-induced hepatorenal failure revealed bile cast nephropathy, hepatic centrilobular necrosis and cholangitis lenta, a type of sepsis-induced cholestasis, with no biliary obstruction, fibrosis or cirrhosis...
October 23, 2018: Fetal and Pediatric Pathology
Abraham Ij Gajardo, Bettina von Dessauer, Víctor Molina, Sergio Vera, Matías Libuy, Ramón Rodrigo
OBJECTIVE: To assess the relationship between biomarkers of oxidative stress (OS) and the length of stay in intensive care units (LSICU) in septic children. METHODS: Clinical parameters and biomarkers of OS were measured in 16 children admitted for sepsis in an intensive care unit. The associations between biomarkers of OS and the LSICU were assessed by linear correlation. Multiple linear regression models were constructed to adjust other variables. RESULTS: The mean of LSICU was 7...
October 19, 2018: Fetal and Pediatric Pathology
Adanna Ukazu, Sitara Ravikumar, Natalie Roche, Debra S Heller
PURPOSE: Short umbilical cords are associated with adverse perinatal outcomes. Clinicians may rely on measurements made by pathologists, which do not include portions of the cord remaining n the child or sent for blood gasses. METHODS: This was a retrospective chart review of term placentas. Sequential cases from January through August 2017 were reviewed from the Pathology archive. RESULTS: 198 placentas were recorded as either third trimester of mature, of which 146 were 37 or greater weeks of gestation...
October 19, 2018: Fetal and Pediatric Pathology
Laura A Skillen, Damien Gates, Julie-Ann Collins, Nivedita Saxena, Daniel Hurrell, Kevin McKenna, Patrick J Morrison
BACKGROUND: Aplasia cutis congenita (ACC) is a heterogeneous condition that can be associated with fetus papyraceus. Few reports exist documenting genetic investigations in ACC or determining the etiology and recurrence risks. OBJECTIVE: We present a Frieden group 5 ACC with fetus papyraceus along with molecular studies. RESULTS: The newborn had multifocal aplasia cutis congenita involving the head, trunk, and limbs with cerebral ischemic changes demonstrated by imaging...
October 1, 2018: Fetal and Pediatric Pathology
Hee Sun Baek, Man Hoon Han, Yong Jin Kim, Min Hyun Cho
INTRODUCTION: Few studies have reported the association between the complement cascade and pediatric immunoglobulin A nephropathy (IgAN). This study aimed to investigate the association between C4d staining positivity and the clinical/histopathological characteristics of pediatric patients with IgAN. METHODS: Children diagnosed with IgAN through renal biopsy were retrospectively reviewed. Renal biopsy specimens were stained using C4d immunohistochemistry. RESULTS: Among the 56 patients, 31 (55...
October 1, 2018: Fetal and Pediatric Pathology
Tong Foh Chin, Kamariah Ibrahim, Tharshanadevasheri Thirunavakarasu, Mohamad Shafiq Azanan, Lixian Oh, Su Han Lum, Tsiao Yi Yap, Hany Ariffin
BACKGROUND: Survivors of childhood cancer are at risk of developing a second malignancy. One possible mechanism for neoplastic transformation of cells is through induction of persistent genomic instability. This study aims to seek evidence of chromosomal instability in long-term childhood leukemia survivors (CLS) in one of the largest pediatric academic oncology centers in South East Asia. METHODS: 50 asymptomatic (subjects have remained leukemia-free since treatment cessation) CLS and 50 healthy controls were recruited in this cross-sectional study...
October 1, 2018: Fetal and Pediatric Pathology
Hwa Jin Cho, Eun Jung Jung, Jung Mi Byun, Dae Hoon Jeong, Kyung Bok Lee, Moon Su Sung, Young Nam Kim
INTRODUCTION: Dural sinus malformations, which are characterized by massively dilated dural sinuses, are one of the etiologies of an intracranial fetal cystic mass. Thrombi within these dural sinus malformations can develop while in-utero, and can be visualized by ultrasound in fetal life. Definitive postnatal diagnosis requires an autopsy. CASE REPORT: We report two thrombosed fetal dural sinus malformations which are prenatally suspected during the second trimester with ultrasonography and postnatally confirmed with autopsy...
September 28, 2018: Fetal and Pediatric Pathology
Danilo Buonsenso, Michela Sali, Davide Pata, Enrico Masiello, Gilda Salerno, Manuela Ceccarelli, Giovanni Delogu, Piero Valentini
BACKGROUND: Growing evidence suggests that vitamin D deficiency might be implicated in the development of active tuberculosis (TB). We evaluated vitamin D levels in children with active TB compared to children with latent TB infection (LTBI), non-TB pneumonia (NTBP) and healthy controls to determine if there was a difference. METHODS: In this prospective study, vitamin D levels were measured and compared between the four groups and adjusted for age, ethnicity, gender and season of sample collection...
September 27, 2018: Fetal and Pediatric Pathology
Zeren Barış, Figen Özçay, Yusuf Usta, Gonca Özgün
INTRODUCTION: Crigler Najjar (CN) disease is a genetic disorder which results in increased unconjugated bilirubin level. Liver parenchyma was previously considered structurally normal. Recent reports describe significant fibrosis in the liver parenchyma of patients with CN syndrome. CASE REPORT: We present a patient with persistent unconjugated hyperbilirubinemia, clinically diagnosed as CN-2, with a UGT1 A1 p. H39D (c.115C > G) (His → Asp) mutation. She required hepatic transplantation at the age of 17...
September 27, 2018: Fetal and Pediatric Pathology
Jeon Soo-Kyeong, Narae Lee, Mi Hye Bae, Young Mi Han, Kyung Hee Park, Shin Yun Byun
BACKGROUND: Thanatophoric dysplasia (TD) results from sporadic de novo mutations in the FGFR3 gene. Upon confirming intrauterine diagnosis of this perinatal disease, pregnancy termination is recommended. There is limited information on the natural history of longer-term survivors with type 1 TD. CASE REPORT: A full-term neonate was confirmed via postnatal genetic testing to have type 1 TD. At 28 days, chylous ascites developed. Medium-chain triglyceride use improved the ascites...
September 25, 2018: Fetal and Pediatric Pathology
Maheshkumar Poomarimuthu, Sivakumar Elango, Pravin Raj Solomon, Sambath Soundarapandian, Jayalakshmi Mariakuttikan
BACKGROUND: Proinflammatory and anti-inflammatory cytokines play a crucial role in the development and maintenance of immune mediated inflammatory diseases including rheumatic heart disease (RHD). Polymorphisms in tumor necrosis factor (TNF)-α, interferon (IFN)-γ, and interleukin (IL)-10 genes influence the differential cytokine expression as well as the pathogenesis of various inflammatory and autoimmune diseases. OBJECTIVE: The aim of the study is to investigate the association between TNF-α, IFN-γ, and IL-10 gene polymorphisms and RHD in South Indian population...
September 24, 2018: Fetal and Pediatric Pathology
Aysegul Oksuzoglu, Yaprak Engin Ustun, Ayla Aktulay, Ozlem Yoruk, Berna Seckin, Nuri Danisman
BACKGROUND: Our aim is to investigate whether the maternal serum levels of first and second trimester serum analytes are altered in women with epilepsy in pregnancy. METHODS: Maternal serum biochemical markers (estriol, alpha-fetoprotein [AFP], human chorionic gonadotrophin [hCG], free β hCG, pregnancy-associated plasma protein-A) were compared in a series of 122 pregnant women with epilepsy and in a cohort of 122 normal pregnant women. The serum samples were obtained between 11-13 6/7 weeks and 16-18 weeks gestation...
September 24, 2018: Fetal and Pediatric Pathology
April W Tan, Pablo Leung, Uday P Patil
BACKGROUND: Hereditary spherocytosis in the Hispanic population does not often present with severe hyperbilirubinemia. Spectrin and band 3 mutations are most frequent in this population. CASE REPORT: We present a Hispanic full-term female newborn with early onset significant hyperbilirubinemia without a history of familial hemolytic disorders. She was diagnosed with hereditary spherocytosis based on laboratory findings, including presence of spherocytes on a peripheral smear, and was later found by next-generation sequencing to have Tokyo-1 mutation, an ANK1 gene mutation, that was previously only reported in Japanese population...
September 12, 2018: Fetal and Pediatric Pathology
Napaputch Kittipornpechdee, Suchanan Hanamornroongruang, Duanphen Lekmak, Jitsupa Treetipsatit
INTRODUCTION: At autopsy, without available serologic information, diagnosing congenital syphilis (CS) relies on identification of Treponema pallidum in tissues. Recognition of clues leading to detection of the organism is important. MATERIALS AND METHODS: Autopsy cases with CS were studied for fetal and placental abnormalities. RESULTS: Twenty-one cases were recruited: 12/21 with identifiable T. pallidum and 9/21 with positive serology and characteristics of CS...
September 12, 2018: Fetal and Pediatric Pathology
Elisa Pani, Alessandra Martin, Annamaria Buccoliero, Marco Ghionzoli, Antonio Messineo
INTRODUCTION: Lymphangiomas are benign tumors/malformations, characterized by proliferation of the lymphatic vessels. They may arise anywhere, although the most common localizations are the head-neck region and the axilla. To date, only 21 cases of lymphangioma of the ovary in a 60-year literature survey have been reported. CASE REPORT: A 16-year-old female patient with long standing abdominal distension had 40 cm × 15 cm × 29 cm ovarian lymphangioma...
September 6, 2018: Fetal and Pediatric Pathology
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