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


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

Corrigendum.

Authors:

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

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http://dx.doi.org/10.1080/15513815.2018.1490490DOI Listing

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
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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
1 Read
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 Jan 22:1-7. 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
January 2019
1 Read
0.398 Impact Factor

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

Fetal Pediatr Pathol 2019 Jan 19:1-6. 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
January 2019
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Absent Pulmonary Valve Syndrome in a Fetus: A Case Report and Literature Review.

Fetal Pediatr Pathol 2019 Jan 20:1-6. 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
January 2019
8 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
3 Reads

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

Fetal Pediatr Pathol 2019 Jan 12:1-6. 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
January 2019
1 Read
0.398 Impact Factor

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

Fetal Pediatr Pathol 2019 Jan 12:1-14. 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
January 2019

CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia.

Fetal Pediatr Pathol 2019 Jan 11:1-13. 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
January 2019
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Placental Pathology in Beckwith-Wiedemann Syndrome According to Genotype/Epigenotype Subgroups.

Fetal Pediatr Pathol 2019 Jan 11:1-13. 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
January 2019

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

Fetal Pediatr Pathol 2019 Jan 11:1-16. 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
January 2019

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 Jan 7:1-2. 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
January 2019
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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
1 Read

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
1 Read

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
4 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
2 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 31:1-7. 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
1 Read

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

Fetal Pediatr Pathol 2018 Dec 28:1-7. 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
2 Reads

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

Fetal Pediatr Pathol 2018 Dec 28:1-5. 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

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

Fetal Pediatr Pathol 2018 Dec 27:1-14. 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
December 2018
1 Read

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
0.398 Impact Factor

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

Fetal Pediatr Pathol 2018 Dec 27:1-4. 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
1 Read

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

Fetal Pediatr Pathol 2018 Dec 26:1-9. 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
December 2018
1 Read
0.398 Impact Factor

Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss.

Fetal Pediatr Pathol 2018 Dec 23:1-10. Epub 2018 Dec 23.

d Department of Medical Genetics , Mashhad University of Medical Sciences , Mashhad , Iran.

Background: Hearing loss (HL) is the most prevalent sensory disorder. The over 100 genes implicated in autosomal recessive nonsyndromic hearing loss (ARNSHL) makes it difficult to analyze and determine the accurate genetic causes of hearing loss. We sought to de?ne the frequency of seven hearing loss-Causing causing genetic Variants in four genes in an Iranian population with hearing loss. Read More

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http://dx.doi.org/10.1080/15513815.2018.1547336DOI Listing
December 2018
0.398 Impact Factor

Central Diabetes Insipidus in an Infant with Pneumococcal Meningitis.

Fetal Pediatr Pathol 2018 Dec 22:1-5. Epub 2018 Dec 22.

a Neonatology , University of Health Sciences, Dr Sami Ulus Maternity and Children Health and Research Application Center , Ankara , Türkiye.

Background: Central diabetes is an infrequent complication reported in the neonatal period.

Case Report: CDI as a complication of Streptococcus pneumoniae (S. pneumoniae) sepsis and meningitis in a 9-day-old boy is presented. 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/10.1080/15513815.2018.1547335DOI Listing
December 2018
5 Reads

Novel Mutation of SYNGAP1 Associated with Autosomal Dominant Mental Retardation 5 in a Chinese Patient.

Fetal Pediatr Pathol 2018 Dec 21:1-4. Epub 2018 Dec 21.

a Genetic Laboratory of Shenzhen Longgang Maternal and Child Health Hospital , Guangdong , Shenzhen , China.

Introduction: Autosomal dominant de novo mutations in SYNGAP1 are a cause of intellectual disability (ID) and autism spectrum disorder (ASD), including autosomal dominant mental retardation 5 (MRD5).

Case Report: By performing exome sequencing, we discovered a novel heterozygous variant in SYNGAP1 (c.509 + 1G > A) in a 4-year-old ethnic Chinese boy with ID and ASD but without seizures or malformation. 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/10.1080/15513815.2018.1497113DOI Listing
December 2018
5 Reads
0.398 Impact Factor

Bart's Syndrome with Novel Frameshift Mutations in the COL7A1 Gene.

Fetal Pediatr Pathol 2018 Dec 7:1-8. Epub 2018 Dec 7.

c Department of Dermatology , Pusan National University Yangsan Hospital , Yangsan , Republic of Korea.

Introduction: Bart's syndrome, a hereditary mechanobullous disorder characterized by aplasia cutis congenita (ACC) with epidermolysis bullosa (EB), has not been genotyped frequently.

Case Report: A full-term female neonate had well-demarcated absence of skin on both legs at birth, with blisters and erosive patches developing immediately after birth. Electron microscopy showed blister formation under the lamina densa layer. Read More

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http://dx.doi.org/10.1080/15513815.2018.1543370DOI Listing
December 2018
1 Read

UPD16 itself is not a cause of intrauterine growth restriction.

Fetal Pediatr Pathol 2018 Nov 23:1-13. Epub 2018 Nov 23.

a Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical University , Guangzhou, Guangdong , China.

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. Read More

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http://dx.doi.org/10.1080/15513815.2018.1538275DOI Listing
November 2018
8 Reads

English Translation of M. Bérard: Tumeur Embryonnaire Du Muscle Strié. [Embryonal Tumor of Striated Muscle]. Lyon Med 1894; 77: 52.

Fetal Pediatr Pathol 2018 Nov 23:1-3. Epub 2018 Nov 23.

c Professor of Pathology, 4650 Sunset Boulevard #43, Children's Hospital of Los Angeles, CA, USA.

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. Read More

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http://dx.doi.org/10.1080/15513815.2018.1538276DOI Listing
November 2018
1 Read

Pleuropulmonary Blastoma Developing in a Case of Misinterpreted Congenital Pulmonary Airway Malformation: a Case Report.

Fetal Pediatr Pathol 2018 Oct 25:1-10. Epub 2018 Oct 25.

a Dept. of Pathology , Institute of Post Graduate Medical Education and Research and SSKM Hospital (IPGME&R & SSKM) , Kolkata , India.

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. 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/10.1080/15513815.2018.1520943DOI Listing
October 2018
5 Reads

Splenic Hemangiomatosis: An Uncommon Vascular Lesion in an Infant.

Fetal Pediatr Pathol 2018 Oct 25:1-5. Epub 2018 Oct 25.

b Department of Pediatric Surgery , Post Graduate Institute of Medical Education and Research , Chandigarh , India.

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. Read More

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http://dx.doi.org/10.1080/15513815.2018.1520372DOI Listing
October 2018

Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy.

Fetal Pediatr Pathol 2018 Oct 25:1-6. Epub 2018 Oct 25.

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

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. Read More

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http://dx.doi.org/10.1080/15513815.2018.1520944DOI Listing
October 2018

Cholangitis Lenta Causing Bile Cast Nephropathy: A Unique Model of Hepatorenal Failure in Sepsis.

Fetal Pediatr Pathol 2018 Oct 23:1-9. Epub 2018 Oct 23.

a Mount Sinai Medical Center, Arkadi M. Rywlin M.D. , Department of Pathology and Laboratory Medicine , Miami Beach , FL , USA.

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. Read More

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http://dx.doi.org/10.1080/15513815.2018.1520945DOI Listing
October 2018
12 Reads

Plasma Antioxidant Potential at Admission is Associated with Length of ICU Stay in Child with Sepsis: A Pilot Study.

Fetal Pediatr Pathol 2018 Oct 19:1-11. Epub 2018 Oct 19.

a Program of Molecular and Clinical Pharmacology , Institute of Biomedical Sciences, Faculty of Medicine, University of Chile , Santiago , Chile.

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. Read More

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http://dx.doi.org/10.1080/15513815.2018.1517845DOI Listing
October 2018

Are Short Umbilical Cords Seen in Pathology Really Short?

Fetal Pediatr Pathol 2018 Oct 19:1-4. Epub 2018 Oct 19.

a Departments of Obstetrics, Gynecology & Women's Health, Rutgers-New Jersey Medical School , Newark , NJ , USA.

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. Read More

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http://dx.doi.org/10.1080/15513815.2018.1517846DOI Listing
October 2018

Aplasia Cutis Congenita with Ischemic Cortical Change and Normal Array Cytogenetic Analysis with a Fetus Papyraceus Twin.

Fetal Pediatr Pathol 2018 Aug 1;37(4):276-281. Epub 2018 Oct 1.

e Medical Genetics , Belfast City Hospital , Belfast , Northern Ireland , UK.

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. 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/10.1080/15513815.2018.1483453DOI Listing
August 2018
3 Reads

Clinical Relevance of C4d Deposition in Pediatric Immunoglobulin A Nephropathy.

Fetal Pediatr Pathol 2018 Oct 1:1-11. Epub 2018 Oct 1.

a Department of Pediatrics, School of Medicine , Kyungpook National University , Daegu , Korea.

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. Read More

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http://dx.doi.org/10.1080/15513815.2018.1504841DOI Listing
October 2018
8 Reads

Nonclonal Chromosomal Aberrations in Childhood Leukemia Survivors.

Fetal Pediatr Pathol 2018 Aug 1;37(4):243-253. Epub 2018 Oct 1.

a Department of Paediatrics, Faculty of Medicine , University of Malaya , Kuala Lumpur , Malaysia.

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. Read More

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http://dx.doi.org/10.1080/15513815.2018.1492054DOI Listing
August 2018
9 Reads
0.400 Impact Factor

Thrombosed Fetal Dural Sinus Malformation: Correlation Between Prenatal Ultrasound and Autopsy Findings.

Fetal Pediatr Pathol 2018 Aug 28;37(4):287-295. Epub 2018 Sep 28.

b Department of Obstetrics and Gynecology, Inje University Busan Paik Hospital , Busan , Korea.

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. Read More

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http://dx.doi.org/10.1080/15513815.2018.1478473DOI Listing
August 2018
4 Reads

Vitamin D Levels in Active TB, Latent TB, Non-TB Pneumonia and Healthy Children: A Prospective Observational Study.

Fetal Pediatr Pathol 2018 Sep 27:1-11. Epub 2018 Sep 27.

a Department of Pediatrics, Fondazione Policlinico Universitario A. Gemelli, IRCCS , Roma , Italy.

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. Read More

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http://dx.doi.org/10.1080/15513815.2018.1509407DOI Listing
September 2018
3 Reads

Liver Cirrhosis in a Patient with Crigler Najjar Syndrome.

Fetal Pediatr Pathol 2018 Aug 27;37(4):301-306. Epub 2018 Sep 27.

c Department of Pathology , Baskent University Faculty of Medicine , Ankara , Turkey.

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. Read More

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http://dx.doi.org/10.1080/15513815.2018.1492053DOI Listing
August 2018
2 Reads

Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months.

Fetal Pediatr Pathol 2018 Sep 25:1-9. Epub 2018 Sep 25.

a Department of Pediatrics , Pusan National University Children's Hospital , Yangsan , Korea.

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. Read More

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http://dx.doi.org/10.1080/15513815.2018.1504843DOI Listing
September 2018
3 Reads

Lack of Association Between TNF-α, IFN-γ, IL-10 Gene Polymorphisms and Rheumatic Heart Disease in South Indian Population.

Fetal Pediatr Pathol 2018 Sep 24:1-10. Epub 2018 Sep 24.

a Department of Immunology , School of Biological Sciences, Madurai Kamaraj University , Madurai , Tamil Nadu, India.

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. 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/10.1080/15513815.2018.1494232DOI Listing
September 2018
1 Read

First and Second Trimester Biochemical Markers in Maternal Epilepsy: A Case-Control Study.

Fetal Pediatr Pathol 2018 Sep 24:1-7. Epub 2018 Sep 24.

a Department of Obstetrics and Gynecology, Zekai Tahir Burak Women's Health Research and Education Hospital , Ankara , Turkey.

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. Read More

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http://dx.doi.org/10.1080/15513815.2018.1502381DOI Listing
September 2018
7 Reads

Tokyo-1 Mutation: Hereditary Spherocytosis in a Hispanic Newborn Presenting as Early Onset Severe Hyperbilirubinemia.

Fetal Pediatr Pathol 2018 Aug 12;37(4):296-300. Epub 2018 Sep 12.

a Department of Pediatrics , Icahn School of Medicine at Mount Sinai, Elmhurst Hospital Center , Elmhurst , New York , USA.

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. Read More

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http://dx.doi.org/10.1080/15513815.2018.1485797DOI Listing
August 2018
3 Reads