751 results match your criteria Fetal and Pediatric Pathology [Journal]


Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review.

Fetal Pediatr Pathol 2019 Apr 19:1-6. Epub 2019 Apr 19.

a Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, Dr. Juan I. Menchaca Civil Hospital of Guadalajara , Guadalajara , Jalisco , Mexico.

Background: Pfeiffer syndrome (PS) is an autosomal dominant entity characterized by craniosynostosis, broad thumbs, and preaxially deviated great toes. It is classified in three types depending on the severity. Type 1: Mild to moderate severity, Type 2: Severe presentation with cloverleaf skull, and Type 3: Severe craniosynostosis with prominent ocular proptosis. Read More

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https://www.tandfonline.com/doi/full/10.1080/15513815.2019.1
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http://dx.doi.org/10.1080/15513815.2019.1603256DOI Listing
April 2019
1 Read

A Newborn with Congenital Hyperinsulinism.

Fetal Pediatr Pathol 2019 Apr 19:1-6. Epub 2019 Apr 19.

a Chengdu Women's and Children's Central Hospital , Chengdu , Sichuan , PR China.

Objective: Our aim was to describe the molecular alterations in the ABCC8 gene in a child with congenital hyperinsulinism (CHI).

Methods: Genetic analysis of the ABCC8 gene of a newborn infant with congenial hyperinsulinism was obtained.

Results: There were two mutations in the ABCC8 gene, c. Read More

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https://www.tandfonline.com/doi/full/10.1080/15513815.2019.1
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http://dx.doi.org/10.1080/15513815.2019.1603255DOI Listing
April 2019
1 Read

Spindle Epithelial Tumor with Thymus-Like Differentiation (SETTLE): A Case Report.

Fetal Pediatr Pathol 2019 Apr 18:1-7. Epub 2019 Apr 18.

c Division of Anatomical Pathology , University of British Columbia , Vancouver , BC , Canada.

Background: Spindle epithelial tumor with thymus-like differentiation (SETTLE) is a tumor with an indolent disease course and late metastatic potential. It occurs primarily in children and adolescents, although it can present later in life. It was first described by Chan and Rosai [Tumors of the neck showing thymic or related branchial pouch differentiation: a unifying concept. Read More

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https://www.tandfonline.com/doi/full/10.1080/15513815.2019.1
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http://dx.doi.org/10.1080/15513815.2019.1600625DOI Listing
April 2019
1 Read

In Vitro Generation of Anti-Osteosarcoma Cytotoxic Activity Using Dendritic Cells Loaded with Heat Shock Protein 70-Peptide Complexes.

Fetal Pediatr Pathol 2019 Apr 7:1-12. Epub 2019 Apr 7.

c Department of Orthoapedic Surgery, Beijing Shijitan Hospital , Capital Medical University , Beijing , China.

Introduction: This study aimed at evaluating the anti-osteosarcoma activity of cytotoxic T lymphocytes (CTLs) induced by dendritic cells (DCs) pulsed with heat shock protein 70-peptide complexes (Hsp70-PCs).

Materials And Methods: Human recombinant Hsp70 expression was analyzed using thin layer scanning and Western blot assay. Tumor antigens from Saos-2 cells were extracted to reconstitute Hsp70-PCs. Read More

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http://dx.doi.org/10.1080/15513815.2019.1600624DOI Listing
April 2019
1 Read

Frequency of ALK and GD2 Expression in Neuroblastoma.

Fetal Pediatr Pathol 2019 Apr 7:1-9. Epub 2019 Apr 7.

f Istanbul University Cerrahpa ş a-Cerrahpa ş a Faculty of Medicine, Pathology , Istanbul , Turkey.

Background: The aim of this study was to elucidate the significance of immunohistochemical staining patterns of ALK and GD2 in peripheral neuroblastic tumors with different stages and favorable/unfavorable features.

Materials And Methods: 32 neuroblastomas, 7 ganglioneuroblastomas, and 1 ganglioneuroma cases were immunohistochemically stained with ALK and GD2, and the expressions were graded and correlated with differentiation, size, and favorable/unfavorable histology.

Results: There was no statistically significant correlation between ALK immunopositivity and tumor differentiation or stage. Read More

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http://dx.doi.org/10.1080/15513815.2019.1588439DOI Listing
April 2019
1 Read

Impaired Placentation and Early Pregnancy Loss in Patients with MTHFR Polymorphisms and Type-1 Diabetes Mellitus.

Fetal Pediatr Pathol 2019 Apr 7:1-11. Epub 2019 Apr 7.

b Department of Obstetrics and Gynecology, Division of Perinatology, Hacettepe University Faculty of Medicine , Ankara , Turkey.

Objective: To evaluate the impact of type-1 diabetes mellitus (DM) and methylenetetrahydrofolate reductase (MTHFR) polymorphisms on impaired placentation leading to early pregnancy loss.

Methods: Miscarriage materials were obtained from eight pregnant women with type-1 DM without MTHFR polymorphism, eight with MTHFR polymorphisms without type-1 DM, and eight controls with neither DM nor MTHFR polymorphisms. Insulin-like growth factor-1 (IGF-1), leukemia inhibitory factor (LIF), and Beclin-1 expression were assessed to evaluate placentation. Read More

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http://dx.doi.org/10.1080/15513815.2019.1600623DOI Listing
April 2019
2 Reads

Umbilical Cord Hematoma.

Fetal Pediatr Pathol 2019 Apr 5:1-2. Epub 2019 Apr 5.

a Hospital Universitario Puerta del Mar , Cadiz , Spain.

Background: Umbilical cord haematomas may result in mortality or significant morbidity due to interference with vital fetal blood flow.

Case Report: We present a massive umbilical haematoma in a asymptomatic neonate without risk factors or hypoxic event.

Conclusion: Although massive umbilical haematomas may result in miscarriage and fetal hypoxia, in some cases there may be no complications. Read More

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http://dx.doi.org/10.1080/15513815.2019.1584656DOI Listing
April 2019
2 Reads

Contribution of Electron Microscopy to the Clinicopathologic Diagnosis in Childhood Glomerular Renal Diseases.

Fetal Pediatr Pathol 2019 Apr 3:1-8. Epub 2019 Apr 3.

a Department of Pediatrics , Division of Nephrology, Dokuz Eylul Universitesi Tip Fakultesi , Izmir 35210 , Turkey.

Background: Electron microscopy (EM) provides another diagnostic assessment of glomerular lesions in addition to light and fluorescent microscopy.

Objectives: We evaluated the contribution of diagnostic EM in childhood glomerular diseases.

Patients And Methods: Forty-eight renal biopsies which were assessed by EM between 2000 and 2014 were evaluated. Read More

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http://dx.doi.org/10.1080/15513815.2019.1587119DOI Listing
April 2019
5 Reads
0.398 Impact Factor

Congenital Laser-Induced Burns: A Potential Complication after Laser Photocoagulation in Monochorionic Twin Pregnancy.

Fetal Pediatr Pathol 2019 Apr 3:1-5. Epub 2019 Apr 3.

a Department of Neonatology , Hospital 12 de Octubre, Biomedical Research Institute i + 12 , Madrid , Spain.

Background: Fetoscopic laser photocoagulation can directly injure fetal skin and may at birth resemble aplasia cutis congenita (ACC).

Case Report: A twin monochorionic pregnancy was complicated by twin-to-twin transfusion syndrome requiring in utero laser photocoagulation, resulting in the death of one twin. After birth, the viable baby presented skin lesions in both legs that were congruent with laser-induced burns. Read More

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http://dx.doi.org/10.1080/15513815.2019.1588441DOI Listing
April 2019
1 Read

Streptococcus pneumoniae - An Uncommon but Noteworthy Cause of Intrauterine Fetal Demise and Acute Necrotizing Funisitis.

Fetal Pediatr Pathol 2019 Apr 3:1-7. Epub 2019 Apr 3.

b Warren Alpert Medical School of Brown University , Providence , RI , USA.

Background: Streptococcus pneumoniae (S. pneumoniae) is an uncommon cause of amniotic fluid infection and intrauterine fetal demise.

Case Report: A 39-year-old G8P2052 presented with preterm premature rupture of membrane at 22 weeks gestation and had a spontaneous vaginal delivery of a neonate who soon expired. Read More

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http://dx.doi.org/10.1080/15513815.2019.1587121DOI Listing
April 2019
1 Read

A Case of Osteogenesis Imperfecta Type II With Additional Balanced Translocation t(1;20)(p13;p11.2).

Fetal Pediatr Pathol 2019 Apr 3:1-9. Epub 2019 Apr 3.

a Pathology Department , University of Illinois at Chicago , Chicago , IL , USA.

Background: Osteogenesis imperfect (OI) type II is a genetic disorder of bone characterized by bone fragility, multiple fractures, severe bowing and shortening of long bones, and perinatal death due to respiratory insufficiency. It is mainly caused by mutations in the COL1A1 or COL1A2 genes, inherited in an autosomal dominant manner.

Case Report: A fetal form of this disorder that included brachydactyly, macrocephaly, frontal bossing, soft calvarium, saddle nose, micrognathia, low set ears, and narrow thoracic cavity is described. Read More

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http://dx.doi.org/10.1080/15513815.2019.1579877DOI Listing
April 2019
4 Reads

Mutation Screening of KCNQ1 and KCNE1 Genes in Iranian Patients With Jervell and Lange-Nielsen Syndrome.

Fetal Pediatr Pathol 2019 Apr 3:1-9. Epub 2019 Apr 3.

a Mashhad University of Medical Sciences , Mashhad , Iran.

Background: Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive genetic disease with deafness and QT prolongation. Mutations in KCNQ1 and KCNE1 genes are a cause of JLNS. Our objective was to perform mutational analysis of the KCNQ1 and KCNE1 genes to determine the frequency of mutations in the Iranian population. Read More

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http://dx.doi.org/10.1080/15513815.2019.1585500DOI Listing
April 2019
2 Reads

Serum Level of Antithrombin III (ATIII) Could Serve as a Prognostic Biomarker in Neonatal Sepsis.

Fetal Pediatr Pathol 2019 Mar 31:1-9. Epub 2019 Mar 31.

b Department of Clinical Pathology, Faculty of Medicine , Fayoum University , Fayoum , Egypt.

Background: Neonatal sepsis syndrome continues to have a high morbidity and mortality rate despite the progress in neonatal intensive care. There is no single diagnostic test which can reliably diagnose sepsis in the newborn, beside blood culture. Antithrombin III may be one promising single marker for sepsis syndrome diagnosis and prognosis. Read More

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http://dx.doi.org/10.1080/15513815.2019.1587118DOI Listing
March 2019
1 Read

Toxoplasma Screening Results of 84587 Pregnant Women in a Tertiary Referral Center in Turkey.

Fetal Pediatr Pathol 2019 Mar 26:1-10. Epub 2019 Mar 26.

a Dr. Zekai Tahir Burak Women's Health Care, Education and Research Hospital , University of Health Sciences , Ankara , Turkey.

Aim: To determine the seroprevalence of Toxoplasma in a tertiary referral center in Turkey and to discuss the benefits and drawbacks of routine antenatal screening.

Materials And Methods: A serologic test for Toxoplasma is free of charge for all pregnant women as part of routine antenatal care at their first prenatal visit. The study was conducted between 2008 and 2017. Read More

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http://dx.doi.org/10.1080/15513815.2019.1587122DOI Listing

Gallbladder Papilloma in a Child Unmasking Metachromatic Leukodystrophy: A Case Report With Review of Literature.

Fetal Pediatr Pathol 2019 Mar 26:1-7. Epub 2019 Mar 26.

a Department of Pathology, Faculty of Medicine , Alexandria University , Alexandria , Egypt.

Background: Metachromatic leukodystrophy (MLD) is a lipid storage disease characterized the accumulation of sulfatides in different viscera including the gallbladder.

Case Report: A 2-year-old girl had upper right quadrant lesion that was preoperatively thought to be a biliary cystadenoma. Histologically, the gallbladder lesion was a tubulo-villous papilloma with multiple foci of papillary mucosal hyperplasia. Read More

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http://dx.doi.org/10.1080/15513815.2019.1588442DOI Listing

Congenital Cystic Diaphragm with Diaphragmatic Eventration in a Fetus: A Case Presentation.

Fetal Pediatr Pathol 2019 Mar 26:1-5. Epub 2019 Mar 26.

a Guangzhou Women and Children's Medical Center , Guangzhou , China.

Introduction: Congenital diaphragmatic eventration (CDE) is defined as the abnormal elevation of the diaphragm, due to incomplete muscularization of the diaphragm with a thin membranous sheet replacing normal diaphragmatic muscle.

Case Report: We report a prenatal case with a diaphragmatic mesothelial cyst combined with CDE.

Conclusion: A large cystic mass between the thoracic wall and the liver in early pregnancy is highly suggestive of cystic diaphragm. Read More

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http://dx.doi.org/10.1080/15513815.2019.1588440DOI Listing

Clinical Observation of a Child with Prenatally Diagnosed De Novo Partial Trisomy of Chromosome 20.

Fetal Pediatr Pathol 2019 Mar 20:1-12. Epub 2019 Mar 20.

a Department of Genetics, Wroclaw Medical University , Wroclaw , Poland.

Background: Small supernumerary marker chromosomes (sSMCs) represent a group of structural chromosome rearrangements that cannot be characterized by conventional cytogenetic analysis, but can be identified by microarray studies. sSMCs are observed in approximately 0.075% of prenatal cytogenetic tests with clinical pathology in no more than 30% of sSMCS carriers. Read More

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http://dx.doi.org/10.1080/15513815.2019.1576818DOI Listing
March 2019
1 Read

Gestational Outcomes of Pregnancies with Prenatally Detected Gastroschisis and Omphalocele.

Fetal Pediatr Pathol 2019 Mar 20:1-8. Epub 2019 Mar 20.

a Division of Perinatology, Department of Obstetrics and Gynecology , Hacettepe University Hospital , Ankara , Turkey.

Objective: To evaluate and compare the outcomes of pregnancies with prenatally detected gastroschisis and omphalocele.

Materials And Methods: We retrospectively evaluated prenatally detected gastroschisis and omphalocele cases. Cases were compared in terms of maternal demographic and clinical characteristics as well as pregnancy and neonatal outcomes. Read More

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https://www.tandfonline.com/doi/full/10.1080/15513815.2019.1
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http://dx.doi.org/10.1080/15513815.2019.1585501DOI Listing
March 2019
3 Reads

Features of Childhood Arterial Ischemic Stroke in China.

Fetal Pediatr Pathol 2019 Mar 19:1-9. Epub 2019 Mar 19.

a Shengjing Hospital of China Medical University , Shenyang , China.

Objective: The aim of this study was to identify the features and risk factors for arterial ischemic stroke (AIS) in children.

Methods: We retrospectively analyzed the initial symptoms, clinical manifestations, risk factors, neuroradiological findings, and treatment data of 75 Chinese children aged between 1 month and 14 years (median 5.7 years) who were diagnosed with AIS in our hospital between 2013 and 2018. Read More

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https://www.tandfonline.com/doi/full/10.1080/15513815.2019.1
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http://dx.doi.org/10.1080/15513815.2019.1588438DOI Listing
March 2019
3 Reads
0.398 Impact Factor

Placenta Increta Presenting as Retained Placenta: A Report of 3 Cases.

Fetal Pediatr Pathol 2019 Mar 19:1-11. Epub 2019 Mar 19.

b Pathology & Laboratory Medicine , Rutgers-New Jersey Medical School , Newark , NJ , USA.

Objectives: Morbid adherence is a risk factor for retained placenta (RP). We encountered three cases of placenta increta presenting clinically as delayed postpartum hemorrhage.

Methods: This was a retrospective study of three cases of placenta increta presenting as RP. Read More

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http://dx.doi.org/10.1080/15513815.2019.1582121DOI Listing
March 2019
2 Reads

Molecular Detection of Adeno-Associated Virus DNA in Cases of Spontaneous and Therapeutic Abortion.

Fetal Pediatr Pathol 2019 Mar 1:1-9. Epub 2019 Mar 1.

a Virology Department, School of Public Health, Tehran University of Medical Sciences , Tehran , Iran.

Background: Adeno-associated viruses (AAVs) have been found in human blood cells, cervical biopsies, and epithelial cell brushings, endometrium, and abortion material, which suggest their possible roles in the induction of miscarriage.

Objective: In this case control study, the presence of AAV DNA in placental tissue of spontaneous and therapeutic abortions was compared.

Method: Placenta samples were evaluated for AAV DNA by hemi-nested PCR in miscarriages occurring in the first 24 weeks of pregnancy from therapeutic and spontaneous abortions. Read More

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http://dx.doi.org/10.1080/15513815.2019.1576817DOI Listing
March 2019
2 Reads

Pediatric Acral Angioleiomyoma: Report of an Unusual Case and Review of the Literature.

Fetal Pediatr Pathol 2019 Feb 20:1-6. Epub 2019 Feb 20.

b Princess Alexandra Hospital , Pathology Queensland , Woolloongabba , Australia.

Background: Angioleiomyoma is a classic painful cutaneous tumor of the limbs of middle aged adults. They are usually a straight-forward histologic diagnosis, being well-circumscribed or encapsulated lesions with both smooth muscle and vascular components.

Case Report: We report the case of an angioleiomyoma on the toe of an 8-year-old girl which displayed an unusual plexiform growth pattern. Read More

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http://dx.doi.org/10.1080/15513815.2019.1576819DOI Listing
February 2019
1 Read

A Hemizygous 370 Kilobase Microduplication at Xq13.1 in a Three-Year-Old Boy With Autism and Speech Delay.

Authors:
Evren Gumus

Fetal Pediatr Pathol 2019 Feb 13:1-6. Epub 2019 Feb 13.

a Department of Medical Genetics, Faculty of Medicine , University of Harran , Sanliurfa , Turkey.

Background: Alterations of Neuroligin 3 (NLGN3), located on Xq13, have been reported in autism spectrum disorder (ASD), and include the less frequent Xq13 duplication.

Case Report: A boy with an aggressive behavior, no speech and weak social relationships had a de novo Xq13.1 microduplication detected by microarray analysis. Read More

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http://dx.doi.org/10.1080/15513815.2019.1571132DOI Listing
February 2019

Increased Autophagy and Apoptosis in the Kidneys of Intrauterine Growth Restricted Rats.

Fetal Pediatr Pathol 2019 Feb 11:1-10. Epub 2019 Feb 11.

a Louisiana State University, Health Sciences Center , New Orleans , Louisiana , USA.

Background: IUGR has been associated with nephron loss and chronic kidney disease (CKD).

Materials And Methods: We examined autophagy and apoptosis markers in the kidneys of IUGR Sprague Dawley rats induced by maternal low protein diet (LP), comparing them to controls. The autophagy marker LC3B, the pro-apoptotic protein Bax, and the anti-apoptotic protein Bcl-2 were determined by quantitative immunoblotting. Read More

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http://dx.doi.org/10.1080/15513815.2018.1564160DOI Listing
February 2019

Thiol-Disulfide Homeostasis, Serum Ferroxidase Activity, and Serum Ischemia Modified Albumin Levels in Neonatal Jaundice.

Fetal Pediatr Pathol 2019 Feb 11:1-8. Epub 2019 Feb 11.

c Clinical Biochemistry, Yıldırım Beyazıt University Faculty of Medicine, Ankara, Turkey.

Aim: Hyperbilirubinemia causes oxidative stress.

Method: We evaluated three oxidative stress markers in hyperbilirubinemic neonates (native/total thiol levels, serum ferroxidase activity and ischemia modified albumin (IMA), comparing these levels to levels in a control group to determine which indicators were the most sensitive.

Results: Serum from 124 term infants (67 with pathologic jaundice and 57 controls) were evaluated. Read More

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http://dx.doi.org/10.1080/15513815.2018.1561772DOI Listing
February 2019
0.398 Impact Factor

Corrigendum.

Authors:

Fetal Pediatr Pathol 2018 Aug;37(4):307

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http://dx.doi.org/10.1080/15513815.2018.1490490DOI Listing
August 2018
2 Reads

Fetal Right Aortic Arch: A Quantitative Method of Outcome Prediction.

Fetal Pediatr Pathol 2019 Feb 7:1-11. Epub 2019 Feb 7.

a Department of Diagnostic Ultrasound and Echocardiography, Sir Run Run Shaw Hospital, Zhejiang University College of Medicine , Hangzhou , China.

Objective: To investigate right aortic arches (RAA) quantitatively and risk-stratify fetuses with RAA prenatally.

Method: A total of 143 singleton fetuses were enrolled. Four measurements were studied, including the angle and distance between the aortic arch (AO) and ductal arch (DA), the diameters of the AO and DA, and the distance growth rate (DGR). Read More

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http://dx.doi.org/10.1080/15513815.2019.1567634DOI Listing
February 2019

Frequencies of Immune Cells in the Human Small Bowel During Normal Gestation and in Necrotizing Enterocolitis.

Fetal Pediatr Pathol 2019 Jan 28:1-14. Epub 2019 Jan 28.

a Department of Pathology , Odense University Hospital , Odense , Denmark.

Background: Only few studies have quantitated the frequencies of immune cells in the small bowel mucosa and submucosa during gestation. The aims of this study were to describe the frequencies of T and B cells, eosinophils and mast cells in the normal small bowel mucosa and submucosa (NSB) in relation to gestational age (GA) and in the uninvolved small bowel (USB) of premature newborns with necrotizing enterocolitis (NEC).

Methods: We obtained 36 NSB specimens (GA 12-41 weeks) and 8 NEC-USB specimens (GA 24-32 weeks) from autopsies and surgeries and performed immunostaining for CD3, CD79a, BMK-13 and tryptase as well as the histochemical stains giemsa and toluidine blue. Read More

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http://dx.doi.org/10.1080/15513815.2018.1561774DOI Listing
January 2019
2 Reads

Giant Hepatic Hemangioma and Placental Chorangiosis: A Unique Case of Stillbirth?

Fetal Pediatr Pathol 2019 Jan 24:1-7. Epub 2019 Jan 24.

a Pathology, DISC , University of Genoa , Genoa , Italy.

Introduction: Hepatic hemangiomas (HH) are benign vascular tumors, and when large, may contribute to fetal morbidity/mortality. Chorangiosis is placental villus capillary hypervascularity, probably linked with fetal hypoxia.

Case Report: We present a macrosomic stillbirth at 39 + 3 weeks of gestation with congestive heart failure (CHF) and myocardial infarction. Read More

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http://dx.doi.org/10.1080/15513815.2018.1564159DOI Listing
January 2019
3 Reads
0.398 Impact Factor

Comparative Analysis of Flow Cytometry and Cytomorphology for Neuroblastoma Cell Detection in Effusion and Bone Marrow Specimens.

Fetal Pediatr Pathol 2019 Feb 22;38(1):1-7. Epub 2019 Jan 22.

b Clinical Laboratory , Zhejiang University School of Medicine Children's Hospital , Hangzhou , China.

Background:Neuroblastoma (NB) frequently metastasizes to the bone marrow (BM), pleural and peritoneal cavities. The detection of NB cells in the BM and effusion specimens is important in clinical staging. Objective: The aim of this study was to compare the ability of flow cytometry (FCM) and cytomorphology (CM) in detecting NB cells. Read More

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http://dx.doi.org/10.1080/15513815.2018.1494231DOI Listing
February 2019
1 Read
0.398 Impact Factor

Congenital Large Cutaneous Hemangioma with Arteriovenous and Arterioarterial Malformations: A Novel Association.

Fetal Pediatr Pathol 2019 Feb 19;38(1):85-90. Epub 2019 Jan 19.

c Department of Gyneco-Obstetrics, Hospital Habib Bougatfa, Faculty of Medicine of Tunis, University of Tunis El Manar , Tunis , Tunisia.

Background: Congenital cutaneous hemangioma is a benign vascular lesion that is a leading cause of severe hemodynamic compromise in a fetus when it is of significant size and especially in association with arteriovenous malformation.

Case Report: A large cutaneous hemangioma involving the right arm of a 32-week-old male fetus was complicated by fetal hypotrophy, hydrops fetalis and neonatal death. Axillary arteriovenous fistulas and bilateral arterial carotid-subclavian anastomosis were demonstrated at autopsy. Read More

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http://dx.doi.org/10.1080/15513815.2018.1547337DOI Listing
February 2019
3 Reads

Absent Pulmonary Valve Syndrome in a Fetus: A Case Report and Literature Review.

Fetal Pediatr Pathol 2019 Feb 20;38(1):57-62. Epub 2019 Jan 20.

c Department of Medical Ultrasound , Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology , Wuhan , China.

Introduction: The main characteristics of absent pulmonary valve syndrome (APVS) include the absence or hypoplasia of the pulmonary valve, stenosis of the pulmonary valve annulus, and aneurysmal dilatation of the pulmonary trunk and its branches. In the more common type 1, the tetralogy of Fallot-like type, there is a ventricular septal defect, overriding aorta, pulmonary arterial dilatation, and absence of ductus arteriosus, The second type has an intact ventricular septum, less pulmonary artery dilatation, and a patent ductus arteriosus, with or without tricuspid atresia.

Case Report: This APVS had an intact ventricular septum with an absent ductus arteriosus. Read More

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https://www.tandfonline.com/doi/full/10.1080/15513815.2018.1
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http://dx.doi.org/10.1080/15513815.2018.1529066DOI Listing
February 2019
24 Reads

Placental Growth Factor and Endothelial Cell-Specific Molecule 1 Levels in Discordant and Concordant Twins and Their Effects on Fetal Growth.

Fetal Pediatr Pathol 2019 Jan 16:1-7. Epub 2019 Jan 16.

a Neonatal Intensive Care Unit, University of Health Sciences, Zekai Tahir Burak Health Education and Research Center, Ankara, Turkey.

Objective: We explored whether fetal twin growth was related to the levels of placental growth factor (PGF) and endothelial cell-specific molecule 1 (ESM-1) and sought correlations between cord blood PGF and ESM1 levels and birth weight discordance.

Methods: This was a prospective study. We evaluated 79 pairs of twins, thus 158 infants. Read More

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https://www.tandfonline.com/doi/full/10.1080/15513815.2018.1
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http://dx.doi.org/10.1080/15513815.2018.1561773DOI Listing
January 2019
7 Reads

Single Nucleotide Polymorphisms of PTPN22 Gene in Iranian Patients with Ulcerative Colitis.

Fetal Pediatr Pathol 2019 Feb 12;38(1):8-13. Epub 2019 Jan 12.

b Research Center for Immunodeficiencies, Children's Medical Center , Tehran University of Medical Sciences , Tehran , Iran.

Objectives: Protein tyrosine phosphatase non-receptor type 22 gene (PTPN22) single-nucleotide polymorphisms (SNP) have been associated with a number of different autoimmune diseases. This study aimed to investigate the association of five polymorphisms of PTPN22 gene with susceptibility to ulcerative colitis (UC) in Iran.

Materials And Methods: A total of 67 patients diagnosed with UC (35 female and 32 male all under 18 years) and 93 healthy subjects were selected. Read More

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http://dx.doi.org/10.1080/15513815.2018.1543371DOI Listing
February 2019
3 Reads
0.398 Impact Factor

TRAP Sequence in Monochorionic/Monoamniotic (MC/MA) Discordant Twins: Two Cases Treated with Fetoscopic Laser Surgery.

Fetal Pediatr Pathol 2018 Dec 12;37(6):433-447. Epub 2019 Jan 12.

h Paulista School of Medicine - Federal University of São Paulo, Obstetrics , São Paulo , Brazil.

Introduction: Ablation of the acardiac twin umbilical cord in the TRAP protects the normal donor twin.

Materials And Methods: Two case descriptions, one of interstitial laser photocoagulation and one of laser umbilical cord occlusion (L-UCO) of the acardiac twin in monochorionic monoamniotic pregnancies are reported.

Results: L-UCO in two pregnancies with TRAP syndrome in the second trimester resulted in intrauterine fetal death in both cases after 1 month. Read More

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http://dx.doi.org/10.1080/15513815.2018.1526240DOI Listing
December 2018
1 Read

CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia.

Fetal Pediatr Pathol 2019 Feb 11;38(1):44-56. Epub 2019 Jan 11.

a Shandong Provincial Hospital Affiliated to Shandong University , Jinan , China.

Background: Biallelic pathogenic variants in CYP24A1 can cause idiopathic infantile hypercalcemia (HCINF).

Methods: We report 2 additional molecular abnormalities in 2 Chinese children with CHINF1.

Results: Biallelic variants in CYP24A1 were found in two patients. Read More

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http://dx.doi.org/10.1080/15513815.2018.1492052DOI Listing
February 2019
2 Reads

Placental Pathology in Beckwith-Wiedemann Syndrome According to Genotype/Epigenotype Subgroups.

Fetal Pediatr Pathol 2018 Dec 11;37(6):387-399. Epub 2019 Jan 11.

a Department of Pathology , Centre hospitalier Lyon Sud , Hospices Civils de Lyon, Pierre Bénite, Lyon , France.

Objectives: To evaluate the frequency of placental pathological lesions in Beckwith-Wiedemann syndrome (BWS), an overgrowth disorder that exhibits etiologic molecular heterogeneity and variable phenotypic expression.

Materials And Methods: The study included 60 BWS patients with a proven molecular diagnosis and a placental pathological examination. Placentomegaly, placental mesenchymal dysplasia (PMD), chorangioma/chorangiomatosis, and extravillous trophoblastic (EVT) cytomegaly were evaluated and their frequencies in the different molecular subgroups were compared. Read More

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http://dx.doi.org/10.1080/15513815.2018.1504842DOI Listing
December 2018
2 Reads

Cardiac Findings in Fetal and Pediatric Autopsies: A 15-Year Retrospective Review.

Fetal Pediatr Pathol 2019 Feb 11;38(1):14-29. Epub 2019 Jan 11.

a Pathology, Faculty of Medicine , Chulalongkorn University , Bangkok , Thailand.

Introduction: Congenital heart defects (CHDs) carry significant morbidity and mortality in pediatric patients. This study determined the spectrum of CHDs based on fetal and pediatric autopsies.

Methods: Autopsy reports over a 15-year period were reviewed. Read More

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http://dx.doi.org/10.1080/15513815.2018.1546355DOI Listing
February 2019
1 Read

The Work of Becerra-Solano et al. (2008) on Amniotic Disruption-Adhesion-Mutilation (ADAM or DAB) Sequence Deserves Comment.

Authors:
John M Opitz

Fetal Pediatr Pathol 2019 Feb 7;38(1):91-92. Epub 2019 Jan 7.

a Human Genetics, Pathology and Obstetrics and Gynecology.

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http://dx.doi.org/10.1080/15513815.2018.1497112DOI Listing
February 2019
2 Reads

Antenatal Cytomegalovirus Infection Screening Results of 32,188 Patients in a Tertiary Referral Center: A Retrospective Cohort Study.

Fetal Pediatr Pathol 2019 Jan 2:1-9. Epub 2019 Jan 2.

a University of Health Sciences Zekai Tahir Burak Women's Health Care, Training and Research Hospital , Ankara , Turkey.

Objective: The present study aimed to determine cytomegalovirus (CMV) seroprevalence, low and high avidities, and the frequency of polymerase chain reaction (PCR) positivity and neonatal disease in an obstetric population.

Materials And Methods: Sera of 32,188 women were tested for CMV IgM and/or CMV IgG between 2008 and 2017. Those with IgM were tested for antibody avidity. Read More

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http://dx.doi.org/10.1080/15513815.2018.1552732DOI Listing
January 2019
2 Reads

Direct Immunofluorescence Results of the Skin Biopsy and Frequency of Systemic Involvement in Children with Henoch-Schonlein Purpura.

Fetal Pediatr Pathol 2019 Jan 2:1-6. Epub 2019 Jan 2.

b Department of Pathology , Tehran University of Medical Sciences , Tehran , Iran.

Objective: Henoch-Schonlein purpura (HSP) is a common vasculitis in children that can present with multi-organ involvement. The aim of this study is to investigate the correlation between direct immunofluorescence (DIF) results and the systemic involvements of the HSP in pediatric patients.

Material And Methods: Those HSP patients with leukocytoclastic vasculitis on their biopsies who also had documented immunoglobulin/complement deposition by DIF were included in our study. Read More

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http://dx.doi.org/10.1080/15513815.2018.1552733DOI Listing
January 2019
4 Reads

Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum.

Fetal Pediatr Pathol 2019 Jan 2:1-11. Epub 2019 Jan 2.

a Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine , Istanbul University , Istanbul , Turkey.

Background: Ectopia cordis (EC) is a congenital anomaly associated with heart defects and extracardiac malformations.

Objectives: We determined the various presentations of EC diagnosed in our center between 2010 and 2017.

Results: Seven fetuses from six pregnancies with EC were detected, five during the first trimester. Read More

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https://www.tandfonline.com/doi/full/10.1080/15513815.2018.1
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http://dx.doi.org/10.1080/15513815.2018.1556367DOI Listing
January 2019
11 Reads

Neonatal Acute Liver Failure Associated with Angioinvasive Hepatic Zygomycosis.

Fetal Pediatr Pathol 2018 Dec 31:1-8. Epub 2018 Dec 31.

a Department of Histopathology , Post Graduate Institute of Medical Education and Research , Chandigarh , India.

Background: Neonatal acute liver failure (NALF) is often a fatal condition. Zygomycosis is a fungal infection that is often fatal in both adults and infants. Only a few cases of hepatic zygomycosis are reported in the literature and they are invariably associated with immunosuppression. Read More

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http://dx.doi.org/10.1080/15513815.2018.1556368DOI Listing
December 2018
6 Reads
0.398 Impact Factor

Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal Cases.

Fetal Pediatr Pathol 2018 Dec 31;37(6):411-417. Epub 2018 Dec 31.

a Unité d'Embryofœtopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, APHP , Paris , France.

Introduction: Beckwith-Wiedemann syndrome (BWS) is the most common overgrowth syndrome. Clinical features are highly variable, including occasional posterior fossa malformations but no femoral shortening.

Case Report: We report two fetuses with BWS associated with short femurs and corpus callosum hypoplasia. Read More

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http://dx.doi.org/10.1080/15513815.2018.1520942DOI Listing
December 2018
4 Reads

SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS.

Fetal Pediatr Pathol 2018 Dec 28;37(6):404-410. Epub 2018 Dec 28.

a Department of Endocrinology, Shanghai Children's Medical Center , Shanghai Jiaotong University School of Medicine , Shanghai , China.

Background: Short stature with optic atrophy and Pelger-Huet anomaly (SOPH; MIM 614800) syndrome is a genetic disease caused by mutation in the neuroblastoma amplified sequence (NBAS) gene.

Case Report: We present a 11-year-old Chinese boy with SOPH syndrome, growth hormone deficiency with a normal bone age. Gene sequencing in the patient revealed a novel compound heterozygous mutation of c. Read More

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http://dx.doi.org/10.1080/15513815.2018.1509406DOI Listing
December 2018
3 Reads

Multifocal Rounded Intraplacental Hematomas, Placental Abruption and Intrauterine Fetal Demise.

Fetal Pediatr Pathol 2018 Dec 28;37(6):465-469. Epub 2018 Dec 28.

b Laboratory , Children's Hospital of New Orleans , New Orleans , Louisiana , USA.

Background: Rounded intraplacental hematomas (RIH) have a distinct rounded hemorrhagic appearance located within the placental parenchyma. Hemorrhagic villous infarctions (infarcts that when sectioned have hemorrhagic centers) are probably older RIH. RIH have been associated with acute abruptions. Read More

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http://dx.doi.org/10.1080/15513815.2018.1520373DOI Listing
December 2018
1 Read

Recurrence of Basal Plate Myofibers, with Further Consideration of Pathogenesis.

Fetal Pediatr Pathol 2019 Feb 27;38(1):30-43. Epub 2018 Dec 27.

b Rochester General Hospital , Rochester , New York , USA.

Objectives: Basal plate myofibers (BPMF) may indicate morbid adherence. We assessed recurrence and clinical progression of BPMF.

Methods: In 5 years, 135 BPMF placentas were reported. Read More

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https://www.tandfonline.com/doi/full/10.1080/15513815.2018.1
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http://dx.doi.org/10.1080/15513815.2018.1546356DOI Listing
February 2019
5 Reads

Rotavirus Infection Enhances Levels of Autoantibodies Against Islet Cell Antigens GAD65 and IA-2 in Children with Type 1 Diabetes.

Fetal Pediatr Pathol 2018 Dec 27:1-9. Epub 2018 Dec 27.

a Department of Virology , Faculty of Medicine, Iran University of Medical Sciences , Tehran , The Islamic Republic of Iran.

Background: Some studies implicate rotavirus infection as a trigger for the development of type 1 diabetes mellitus (T1DM) in children, however findings are controversial.

Objectives: We investigated the link between rotavirus infection and autoantibodies against islet antigens and T1DM in children.

Methods: Serum samples from 80 new-onset diabetic and 80 nondiabetic children were screened for anti-rotavirus IgG, anti-GAD65 and anti-IA-2 autoantibodies using ELISA kits. Read More

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http://dx.doi.org/10.1080/15513815.2018.1547338DOI Listing
December 2018
1 Read
0.398 Impact Factor

A novel CFTR gene variant - p.Tyr517* associated with cystic fibrosis: a case report.

Fetal Pediatr Pathol 2018 Dec 27;37(6):448-451. Epub 2018 Dec 27.

a Department of Molecular Pathology , Metropolis Healthcare Ltd. , Mumbai , India.

Introduction: Cystic fibrosis (CF) is a genetic disease usually diagnosed by clinical findings and abnormal sweat chloride testing.

Case Report: We report a case of an 18-month-old Indian female with clinical findings suggestive of CF referred for genetic confirmation. The CFTR gene was sequenced for 23 mutations as per American College of Medical Genetics (ACMG) guidelines for CF and showed presence of a known common heterozygous delF508 (c. Read More

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http://dx.doi.org/10.1080/15513815.2018.1532473DOI Listing
December 2018
2 Reads

De Novo Mutated TUBB2B Associated Pachygyria Diagnosed by Medical Exome Sequencing and Long-Range PCR.

Fetal Pediatr Pathol 2019 Feb 26;38(1):63-71. Epub 2018 Dec 26.

b Prenatal Diagnosis Center , Shenzhen Maternity and Child Healthcare Hospital , Shenzhen , China.

Introduction: A range of cerebrocortical development malformations (MCD) ranging from simplified gyral patterns to the complete loss of gyri and sulci is associated with mutations in a cluster of highly homolog β-tublin genes, such as TUBB2A and TUBB2B.

Case Report: The fetus had pachygyria, asymmetrical perisylvian polymicrogyria, dysplasia of the lateral sulcus and insula, agenesis of the splenium and partial agenesis of the body corpus callosum, cerebellar superior vermian hypoplasia with agenesis of the inferior vermis. Karyotype and microarray were normal. Read More

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http://dx.doi.org/10.1080/15513815.2018.1538273DOI Listing
February 2019
2 Reads
0.398 Impact Factor