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Fetal and Pediatric Pathology

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...
October 20, 2016: Fetal and Pediatric Pathology
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...
October 12, 2016: Fetal and Pediatric Pathology
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...
October 12, 2016: Fetal and Pediatric Pathology
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...
October 3, 2016: Fetal and Pediatric Pathology
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...
October 3, 2016: Fetal and Pediatric Pathology
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.
September 14, 2016: Fetal and Pediatric Pathology
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...
September 14, 2016: Fetal and Pediatric Pathology
Heron Werner, Carolina Mocarzel, Renato Augusto Sá, Gabriele Tonni, Victoria Arruga Novoa Y Novoa, Elyzabeth Avvad-Portari, Paola Bonasoni, Edward Araujo Júnior
We describe the first case of prenatally detected teratoma of the fetal abdomen wall using ultrasound and fetal magnetic resonance imaging (MRI). A heterogeneous mass, partly solid and cystic, originating from the anterior abdominal wall of the fetus close to an omphalocele sac was detected by means of 2D/3D ultrasound and MRI. Amniodrainage was performed and due to sign of impending fetal risk, an emergency Cesarean section was performed. A bulky, crumbly and bleeding tumoral mass was confirmed at delivery...
August 25, 2016: Fetal and Pediatric Pathology
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...
August 25, 2016: Fetal and Pediatric Pathology
Julia Shinnick, Carlos R Abramowsky, Nasim Khoshnam, Justine S Broecker, Diana Metry, Andrea C Thomas, Cheri L Curtis, Bahig M Shehata
Leydig cell nodular hyperplasia (LCNH) is a lesion that is less characterized than the familiar Leydig cell tumors. The paracrine effects of these lesions on adjacent gonadal stroma have not been widely documented. We present two cases of precocious puberty in pre-pubertal boys found to have a single LCNH with adjacent focal maturation of the seminiferous tubules. Blood tests showed elevated serum testosterone and dehydroepiandrosterone (DHEAS). Ultrasound revealed unilateral testicular enlargement with irregular echogenicity...
August 23, 2016: Fetal and Pediatric Pathology
Kavita Nadendla, Amelia Sutton, David Kelly, Reed Dimmitt, Linda Wilkinson, Carroll Harmon, Colin Martin
OBJECTIVE: To review a case of quintuplets with all babies developing necrotizing enterocolitis. METHODS: A retrospective study of preterm quintuplets all developing necrotizing enterocolitis. Clinical outcomes were reviewed. RESULTS: Quintuplets were born at 24 weeks gestation. Each baby developed NEC and was treated. One baby died. Currently the remaining 4 infants are on full enteral nutrition. CONCLUSION: Further studies are needed to better understand this emerging population of multiple birth pregnancy and the frequency of NEC development...
August 23, 2016: Fetal and Pediatric Pathology
Mina M Naguib, Haynes Robinson, Carla Shoffeitt, Helena Howe, Diana Metry, Bahig M Shehata
Hirschsprung disease (HSCR) can be diagnosed using a variety of histological and immunohistochemical methods and stains. Because of the nature of the condition and the need for a rapid diagnostic confirmation, those methods with high accuracy and fast turnaround times are preferred. The authors of this paper have used rapid acetylcholinesterase (AChE) immunohistochemistry in conjunction with standard H&E in order to optimize diagnostic accuracy, and present a modified rapid AChE method (MRAM) that has been successfully utilized for over 20 years...
August 23, 2016: Fetal and Pediatric Pathology
Tara Benjamin, Rhiannon R Amodeo, Avinash S Patil, Barrett K Robinson
OBJECTIVE: Compare short-term urologic outcomes with delivery timing in fetuses with severe hydronephrosis. METHODS: An ultrasound database was queried for severe hydronephrosis. Cases were categorized into late preterm/early term (36 0/7 - 38 6/7 weeks) and full term (39 0/7 weeks or greater) groups. Baseline characteristics were compared using standard statistical methods. Spearman's correlation analysis was performed for grade and severity of hydronephrosis on first postnatal ultrasound with gestational age at delivery...
August 5, 2016: Fetal and Pediatric Pathology
Mariela Granero Farias, Suzane Dal Bó, Simone Martins de Castro, Aline Reis da Silva, Joyce Bonazzoni, Luciana Scotti, Sergio H Almeida Martins Costa
Accurate detection and quantitation of fetomaternal hemorrhage (FMH) is critical to the obstetric management of rhesus D alloimmunization in Rh-negative pregnant women. The flow cytometry is based on the detection of fetal red blood cells using a monoclonal anti-HbF antibody, and is the method most indicated for this estimation. The objective of this study was to quantify fetal red blood cell levels of pregnant women using flow cytometry. We analyzed 101 peripheral blood samples from Rh-negative and Rh-positive women, whose mean age was 24 years (20-32 years), after vaginal delivery or cesarean section...
August 5, 2016: Fetal and Pediatric Pathology
Marie Nguyen, Benjamin Addicott, Julia Chu, David Parham, Eugene Kim
Umbilical cord cysts warrant evaluation for structural defects and chromosomal anomalies such as trisomy 18, depending on the type of cyst. The appearance of an enlarged or "gigantic" cord has particular association with a patent urachus, often requiring operative exploration to repair the associated urachal remnant. We describe the unusual case of an umbilical cord cyst-measuring 9 cm in maximal diameter and comprising histopathological features of an urachalcyst-presenting in a healthy ex-36 week newborn with no associated anomalies...
August 5, 2016: Fetal and Pediatric Pathology
Evsen Apaydin, Yasemin Ozluk, Secil Yuksel, Basak Erginel, Deniz Tugcu, Alaaddin Celik, Isin Kilicaslan
OBJECTIVE: We aimed to define the histopathologic features and proliferative rate of congenital mesoblastic nephroma (CMN) as a risk factor for recurrence. METHODS: Fourteen cases of CMN among 138 registered pediatric renal tumors were retrospectively reviewed. The prognostic impact for mitotic rate and Ki67 index was investigated. RESULTS: There were four (28.6%) classic, six (42.9%) cellular, and four (28.6%) mixed type CMNs, with average Ki-67 counts of 16...
August 2, 2016: Fetal and Pediatric Pathology
Heesun Baek, Sang-In Lee, Taein Park, Minhyun Cho
Some children with thin basement membranes (TBM) turn out to have Alport syndrome (AS). In our population of 58 children initially diagnosed with TBM, three were eventually diagnosed with AS. As a group, these three were first biopsied at a younger age, and had gross rather than microscopic hematuria. Only one had lamellations initially. Seven others had some degree of basement membrane lamellations at initial biopsy, but none of these have developed other features of AS. We concluded that at least 5% of children initially demonstrating TBM go on to manifest the classical electron-microscopic findings of AS during childhood...
July 13, 2016: Fetal and Pediatric Pathology
Tsz-Kin Lo, Andrea Lee, Wan-Pang Chan, Sze-Ki Hui, Yu-Ming Fu, Chi-Chiu Shek, Angus Lam
Subamniotic hemorrhage results from rupture of chorionic vessels near the cord insertion. In the literature, it has never been a major cause for severe intrapartum complications. We report the first case of acute massive subamniotic hemorrhage intrapartum resulting in severe perinatal asphyxia.
July 1, 2016: Fetal and Pediatric Pathology
Suvradeep Mitra, Saumya Gupta, Prema Menon, K L N Rao, Amanjit Bal
Juvenile xanthogranuloma (JXG) is a histiocytic disorder of childhood that mostly affects the skin although extracutaneous and visceral manifestations are well documented in English literature. The renal involvement is less commonly documented as a manifestation of xanthogranuloma and the reported cases occur in conjunction with cutaneous xanthogranuloma, especially in association with multiple skin lesions. We present a case of isolated renal JXG presenting as a renal mass with perinephric soft tissue and muscle involvement but without any cutaneous manifestation...
July 1, 2016: Fetal and Pediatric Pathology
Zhi-Gang Yao, Xiu-Mei Liu, Ye-Jun Qin
We describe two children with ganglioneuroma (GN) likely originating from incompletely resected neuroblastoma (NB) during infancy, stages 2A and 2B, who did not undergo postoperative adjuvant chemotherapies. Both NB tumors had no MYCN amplification, had TrKA but no TrkB expression, and by TUNEL had apoptosis. These findings may have contributed to spontaneous maturation of the residual primary NB and hence the favorable prognosis, which suggests surgery alone might be the sufficient initial therapy for low-risk patients...
June 30, 2016: Fetal and Pediatric Pathology
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