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Fetal and Pediatric Pathology

Tutku Soyer, Burça Aydin, Diclehan Orhan, Feridun C Tanyel
INTRODUCTION: Neuroendocrine tumors (NET) within tailgut cysts (TC) are usually seen in middle-aged females. A 14 year-old boy who underwent surgical excision of NET within TC is presented to discuss the clinical features, diagnosis and treatment options. CASE REPORT: A 14-year-old boy with rectal bleeding and constipation had a 5 × 4 cm mass detected upon rectal examination. The cystic mass was totally excised. The histopathological evaluation revealed a low-grade NET within mucularis layer of the cyst showing a positive immunhistochemical staining for cytokeratin and synaptophysin...
May 29, 2018: Fetal and Pediatric Pathology
Hakan Erenel, Aysegul Ozel, Funda Oztunc, Osman Kizilkilic, Nil Comunoglu, Seyfettin Uludag, Riza Madazli
INTRODUCTION: Isotretinoin, a synthetic derivative of vitamin A, is one of the most potent human teratogens, and is mainly utilized for the treatment of severe recalcitrant nodular acne. Retinoic acid embryopathy is well defined in the literature. CASE REPORT: The mother was referred for a fetal posterior fossa abnormality, first detected at 20 weeks of gestation. The mother used isotretinoin until 18 weeks gestation. Ultrasound examination revealed hypertelorism, cerebellar hypoplasia, vermian agenesis, truncus arteriosus, anotia, thymic aplasia, corpus callosum hypoplasia...
May 29, 2018: Fetal and Pediatric Pathology
Lulu Sun, Christina A Hickey, Brendan R Harris, Horacio M Maluf, Mai He
BACKGROUND: Sloughing esophagitis is an uncommon entity with an unclear pathogenesis characterized by desquamating sheets of squamous mucosa. It has been associated with bullous dermatologic disorders, other autoimmune diseases and has been most commonly reported in elderly, debilitated individuals on multiple medications. CASE REPORT: We report sloughing esophagitis in a previously healthy 17 year-old girl. While the initial trigger of her esophagitis is unclear, she improved with proton pump inhibitor therapy and swallowed fluticasone, with complete resolution after 6 months...
May 21, 2018: Fetal and Pediatric Pathology
Gabriele Tonni, Gianpaolo Grisolia, Paolo Zampriolo, Edward Araujo Júnior, Rodrigo Ruano
INTRODUCTION: Blake's pouch cyst (BPC) represents an abnormal development of the posterior membranous area of the fetal brain. MATERIAL AND METHODS: Two- and three-dimensional ultrasound with Cristal and Realistic Vue were used to characterized the early prenatal diagnosis. RESULTS: At 9 weeks and 5 days a ballooning in the posterior fossa and resulting in an enlarged intracranial translucency (IT) was detected by 3D ultrasound using Cristal Vue in "inversion" mode and Cristal plus Realistic Vue...
May 21, 2018: Fetal and Pediatric Pathology
Cristina Gonzalez, Miriam Gutierrez Serrano, Carmen Barbancho Lopez, Taida Garcia-Riaño, Vanesa Barea Calero, Rebeca Moreno Perea, Begoña Rodriguez Mogollón, Amelia Queipo Rojas, Ana Garcia Climent, Fernando Cava Valenciano
BACKGROUND: There is controversy whether chromosomal microarray (CMA) can replace karyotyping in prenatal diagnosis. Chromosomal microarray may detect more clinically significant chromosomal imbalances than karyotyping in a shorter time but does not detect inversions, triploidies or low mosaicisms. CASE REPORT: Amniocentesis was performed in the late second trimester based on ultrasound abnormalities. A CMA, obtained at 10 days, demonstrated a terminal deletion in 4q34...
May 17, 2018: Fetal and Pediatric Pathology
M Sinan Beksac, Alp Tuna Beksac, Melek Buyukeren, Atakan Tanacan, Hatice Bektas, Safak Gucer
OBJECTIVE: We aimed to evaluate fetuses of terminated pregnancies with oligo-or anhydramnios (OAH) to further investigate the association between maternal methylenetetrahydrofolate reductase (MTHFR) polymorphisms and fetal urinary tract malformations. MATERIALS AND METHODS: This retrospective study included 16 pregnancies with OAH (with normal fetal karyotype) that were intentionally terminated before 22nd gestational week. Fetal autopsy was performed in all cases...
May 8, 2018: Fetal and Pediatric Pathology
Fanni Rebeka Eros, Atene Simonyi, Zsolt Tidrenczel, Istvan Szabo, Janos Rigo, Artur Beke
OBJECTIVE: Our objective is to examine the effectiveness of prenatal ultrasound diagnosis of craniospinal malformations compared to postnatal neonatological and pathological findings. METHODS: Over a 7-year period, we preformed approximately 82.500 prenatal ultrasounds of 26.827 pregnancies. We detected 290 fetuses with 351 craniospinal malformations. RESULTS: Craniospinal abnormalities were found as a part of multiplex malformations in 84/290 cases: in 47/84 cases (55...
May 8, 2018: Fetal and Pediatric Pathology
Junya Nakajima, Norito Tsutsumi, Shonosuke Nara, Hiroki Ishii, Yusuke Suganami, Daisuke Sunohara, Hisashi Kawashima
INTRODUCTION: Multi-organ injury causes leakage of several intracellular enzymes into the circulation. We evaluated the correlation between the serum-leaked intracellular enzyme levels at the beginning of treatment and the outcome in perinatally stressed neonates. MATERIALS AND METHODS: We retrospectively studied neonates whose 1 minute Apgar score was < 7. We collected initial venous blood sample data, including aspartate transaminase (AST), alanine transaminase (ALT), lactate dehydrogenase (LDH), and creatine kinase (CK) levels, and correlated these with patient short-term outcomes...
May 8, 2018: Fetal and Pediatric Pathology
M Halit Pinar, Karen Gibbins, Mai He, Stefan Kostadinov, Robert Silver
Miscarriage is a frequent complication of human pregnancy: ∼50% to 70% of spontaneous conceptions are lost prior to the second trimester. Etiology of miscarriage includes genetic abnormalities, infections, immunological and implantation disorders, uterine and endocrine abnormalities, and lifestyle factors. Given such variability, knowledge regarding causes, pathophysiological mechanisms, and morphologies of primary early pregnancy loss has significant gaps; often, pregnancy losses remain unexplained. Pathologic evaluation of miscarriage tissue is an untapped source of knowledge...
May 8, 2018: Fetal and Pediatric Pathology
Cuma Mertoğlu, Murat Gunay, Gulsah Siranli, Mehmet Kulhan, Gamze Gok, Özcan Erel
AIM: A 50 g glucose challenge test (GCT) is recommended for screening all pregnant women for gestational diabetes mellitus. In this study, the effect of GCT on the thiol/disulfide balance was investigated. METHODS: One-hundred women that underwent a 50 g GCT at 24-28 weeks of gestation (63 positive and 37 negative results) were evaluated in terms of thiol/disulfide in serum samples at test hours 0 and 1. RESULTS: Compared to the baseline values (hour 0), after the glucose load (hour 1), the thiol and native thiol/total thiol (p < 0...
April 25, 2018: Fetal and Pediatric Pathology
Fulya Cagli, Gulsum Uysal, Leyla Oz, Hatice Akkaya, Huseyin Aksoy, Eda Ulku Karakilic, Gokhan Acmaz
OBJECTIVE: Galectins are animal lectins that bind to surface glycoproteins expressed at the fetal-maternal interface. The aim of this prospective case-control study was to investigate the possible relationship between levels of maternal serum galectin-7 and threatened abortion (TA) and to determine whether serum galectin-7 had any prognostic value. METHODS: This prospective study was conducted between August 2014 and February 2015. Included in the study were 31 consecutive pregnant women who were hospitalized for TA between 6 and 14 weeks of gestation and 33 healthy gestational age matched pregnant women without any symptoms of miscarriage...
April 25, 2018: Fetal and Pediatric Pathology
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April 2018: Fetal and Pediatric Pathology
Gabriele Tonni, Rodrigo Ruano, Renato Sà, Fernando Maia Peixoto Filho, Jorge Lopes, Heron Werner
INTRODUCTION: Congenital diaphragmatic hernia (CDH) is a life-threatening event in severe forms and fetuses affected may benefit from in utero treatment by fetoscopic endotracheal occlusion (FETO). MATERIALS AND METHODS: Application of 3D virtual bronchoscopy in a case of severe, isolated, left CDH before performing FETO procedure at 27 week's gestation is reported. RESULTS: The 3D virtual imaging of the fetal trachea was technically useful in planning the real FETO procedure...
April 2018: Fetal and Pediatric Pathology
Kashmi Sharma, Mehar Aziz, Nishat Afroz, Aaliya Ehsan
BACKGROUND: Tumors in pediatric age group are biologically different from tumors in adults and emerging as a significant contributor to morbidity/mortality in children. OBJECTIVES: This study evaluated the epidemiological profile of pediatric solid tumors in 0-18 years of age over a period of 5 years in a general hospital in India. RESULTS: A total of 510 cases of tumors were included, which accounted for 5.1% of the total tumor burden of the hospital...
April 2018: Fetal and Pediatric Pathology
Elif Ünver Korğalı, Amine Yavuz, Cemile Ece Çağlar Şimşek, Cengiz Güney, Hande Küçük Kurtulgan, Burak Başer, Mehmet Haydar Atalar, Hatice Özer, Hatice Reyhan Eğilmez
INTRODUCTION: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is characterized by bladder distension without urinary tract obstruction, decreased or absent intestinal peristalsis and microcolon. Although the definitive cause remains unknown, changes in the ACTG2 gene are thought to be responsible for the intestinal and bladder hypoperistalsis. CASE REPORT: This female newborn with MMIHS had a c.532C>A /p.Arg178Ser heterozygous de novo mutation detected in the ACTG2 gene...
April 2018: Fetal and Pediatric Pathology
Adam Lang, Louis P Dehner
INTRODUCTION: Clear cell sarcoma of the kidney (CCSK) is childhood neoplasm with its own distinctive pattern of metastasis and may appear after a disease free interval of 5 years or more. MATERIALS AND METHODS: Histopathology and immunohistochemistry were available from the radical nephrectomy and the later partial cystectomy, which was performed after a seven disease-free interval. RESULTS: The pathologic features of the primary tumor were those of a classic CCSK with a monotypic pattern of uniform rounded to ovoid tumor cells with a background network of delicate blood vessels...
April 2018: Fetal and Pediatric Pathology
Liang Xie, Ying Deng, Yumei Yuan, Xiong Tan, Lijun Liu, Nana Li, Changfei Deng, Hanmin Liu, Li Dai
BACKGROUND: The genetic factors causing cleft lip with or without cleft palate (CL ± P) are still unclear. The SNPs in FOXE1 gene were associated with CL ± P. However, the results have been inconsistent. OBJECTIVE: We explored the associations of four SNPs in FOXE1 gene and CL ± P by a family based study. MATERIALS AND METHODS: 128 children with CL ± P and their parents were recruited. rs3758249 and rs1867277 were genotyped by high-resolution melting curve (HRM) method, whereas rs1443434 and rs907577 were genotyped by Sequenom MassARRAY® method...
April 2018: Fetal and Pediatric Pathology
Saeeda Almarzooqi, Asif Quadri, Alia Albawardi
BACKGROUND: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease, caused by a deficiency of arylsulfatase A, and leads to demyelination of the nervous system. A putative association between MLD and gallbladder pathology including malignancy is documented in the medical literature. CASE REPORT: A 10-year-old boy with MLD was found to have a papillary growth within a cystically dilated gallbladder. The lesion was confirmed to be papillomatosis/polyp with focal intestinal metaplasia...
April 2018: Fetal and Pediatric Pathology
Chiara Caporalini, Selene Moscardi, Angela Tamburini, Nicola Pierossi, Marco Di Maurizio, Anna Maria Buccoliero
BACKGROUND: Inflammatory myofibroblastic tumor (IMT) is an uncommon mesenchymal lesion composed of myofibroblastic and fibroblastic spindle cells, accompanied by inflammatory infiltration. IMT may occur in the tongue. Five cases have been previously reported at this site. CASE REPORT: An inflammatory myofibroblastic tumor arose in the tongue of a 10 month old infant, confirmed by anaplastic lymphoma kinase (ALK) immunohistochemical staining and the clinical response to the tyrosine kinase inhibitor...
April 2018: Fetal and Pediatric Pathology
Gordon Gray Still, Shuo Li, Mark Wilson, Paul Sammut
INTRODUCTION: Pulmonary interstitial glycogenosis (PIG) is an idiopathic lung condition that remains clinically underrecognized despite a growing body of literature. CASE REPORT: We present a case of PIG with pulmonary hypertension without underlying cardiac disease. This patient presented with respiratory distress and spontaneous pneumothorax at 6 months of age. Laboratory and imaging investigations demonstrated nonspecific features, but refractory pulmonary hypertension was confirmed on cardiac catheterization...
February 2018: Fetal and Pediatric Pathology
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