A Newborn with Congenital Hyperinsulinism.
CONCLUSION: The combination of a mutation of the ABCC8 gene c.4412delT, associated with CHI, and the mutation of c.3979G > A, associated with neonatal diabetes, resulted in a neonate with hypoglycemia. The mechanism remains unclear. PMID: 31002010 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - April 21, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review.
CONCLUSIONS: We suggest that the "prune belly" anomaly and others abdominal wall defects as omphalocele and scar-type defects may be included as a feature in PS type 2 and 3. PMID: 31002276 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - April 21, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Spindle Epithelial Tumor with Thymus-Like Differentiation (SETTLE): A Case Report.
CONCLUSION: Though fine-needle aspirate biopsy is useful in directing the diagnostic workup of SETTLE by indicating concerning pathology, the broad differential diagnosis associated with it requires histology in conjunction with a limited immunohistochemical panel and unremarkable cytogenetics workup. Surgical resection is the main stay of treatment, and long-term follow-up is important in these patients. PMID: 30998418 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - April 20, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Impaired Placentation and Early Pregnancy Loss in Patients with MTHFR Polymorphisms and Type-1 Diabetes Mellitus.
CONCLUSION: The expression of IGF-1, LIF, and Beclin-1 are altered in both the decidua and the trophoblasts in pregnancies of women with type-1 DM and MTHFR polymorphisms, compared to normal pregnancies undergoing (elective) terminations. PMID: 30955395 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - April 10, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Frequency of ALK and GD2 Expression in Neuroblastoma.
CONCLUSION: GD2 immunostaining levels correlated with tumor differentiation and size. ALK immunostaining was not related to tumor differentiation or stage. PMID: 30955398 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - April 10, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

In Vitro Generation of Anti-Osteosarcoma Cytotoxic Activity Using Dendritic Cells Loaded with Heat Shock Protein 70-Peptide Complexes.
CONCLUSION: Our in vitro experiment demonstrated the potent induction of cytotoxic activity against osteosarcoma using DC-based vaccine loaded with Hsp70-PCs. PMID: 30955440 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - April 10, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Umbilical Cord Hematoma.
CONCLUSION: Although massive umbilical haematomas may result in miscarriage and fetal hypoxia, in some cases there may be no complications. PMID: 30947594 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - April 7, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Mutation Screening of KCNQ1 and KCNE1 Genes in Iranian Patients With Jervell and Lange-Nielsen Syndrome.
CONCLUSION: A novel mutation in the KCNQ1 gene is described. There may be less frequency of mutations in the KCNQ1 and of KCNE1 genes in Iranian JLNS patients compared with other populations. PMID: 30942114 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - April 4, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

A Case of Osteogenesis Imperfecta Type II With Additional Balanced Translocation t(1;20)(p13;p11.2).
CONCLUSION: Although the balanced translocation t(1:20)(p13;p11.2) appears to be incidental in our case, identification of the specific mutation and translocation is important for estimation of genetic risk for another afflicted child. PMID: 30942118 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - April 4, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Streptococcus pneumoniae - An Uncommon but Noteworthy Cause of Intrauterine Fetal Demise and Acute Necrotizing Funisitis.
CONCLUSION: S. pneumoniae should be considered in perinatal death of immature fetus with severe amniotic fluid infection syndrome and acute necrotizing funisitis. PMID: 30942119 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - April 4, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Congenital Laser-Induced Burns: A Potential Complication after Laser Photocoagulation in Monochorionic Twin Pregnancy.
CONCLUSIONS: Laser-induced burns present as asymmetric superficial non-necrotic or ulcerated lesions, with a geographic outline, which turn into scars with no retraction or contractures and no changes in pain perception or motor limitations over time. ACC lesions are bilateral and symmetric, with a regular outline, an ulcerated or necrotic appearance, a higher degree of skin involvement affecting all skin layers and, over time, they turn into scars with retraction and contractures. These differential features may help clinicians in a challenging approach to the diagnosis of congenital skin defects. PMID: 30942125 [PubM...
Source: Fetal and Pediatric Pathology - April 4, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Contribution of Electron Microscopy to the Clinicopathologic Diagnosis in Childhood Glomerular Renal Diseases.
CONCLUSION: Electron microscopic evaluation supports other histopathological diagnoses in most cases, contributes additional diagnostic information in pediatric glomerular disease, especially in FSGS, thin glomerular basement membrane nephropathy, Alport disease, MPGN, and dense deposit disease, and its utilization should clinically justify the increase in cost and testing time. PMID: 30942128 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - April 4, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Serum Level of Antithrombin III (ATIII) Could Serve as a Prognostic Biomarker in Neonatal Sepsis.
CONCLUSION: Antithrombin III is lower in sepsis syndrome neonates and may be a useful biomarker in neonatal sepsis. PMID: 30931675 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - April 3, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Congenital Cystic Diaphragm with Diaphragmatic Eventration in a Fetus: A Case Presentation.
CONCLUSION: A large cystic mass between the thoracic wall and the liver in early pregnancy is highly suggestive of cystic diaphragm. PMID: 30912683 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - March 28, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Gallbladder Papilloma in a Child Unmasking Metachromatic Leukodystrophy: A Case Report With Review of Literature.
CONCLUSION: Gallbladder papilloma can be the presenting feature of MLD. PMID: 30912695 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - March 28, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Toxoplasma Screening Results of 84587 Pregnant Women in a Tertiary Referral Center in Turkey.
CONCLUSION: Universal screening for Toxoplasma in pregnancy is a subject of debate. As the prevalence in Turkey is higher compared to other countries, more studies are needed to identify the necessity of routine screening. PMID: 30912697 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - March 28, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Features of Childhood Arterial Ischemic Stroke in China.
CONCLUSION: Infection was an important risk factor for children with AIS in China. Infection and thrombophilia risk factors were more likely to occur in isolation. The stroke lesions commonly occurred in the basal ganglia region. PMID: 30890011 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - March 22, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Gestational Outcomes of Pregnancies with Prenatally Detected Gastroschisis and Omphalocele.
CONCLUSION: Additional genetic disorders are more frequent in those with omphalocele cases, and they are more frequently terminated during gestation that the gastroschisis fetuses. PMID: 30892123 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - March 22, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Clinical Observation of a Child with Prenatally Diagnosed De Novo Partial Trisomy of Chromosome 20.
CONCLUSION: Partial trisomy of chromosome 20, covering the region 20q21→20q23, results in serious clinical complications, including dysmorphic features and delay in psychomotor development. PMID: 30893560 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - March 22, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Placenta Increta Presenting as Retained Placenta: A Report of 3 Cases.
CONCLUSION: RP may be a presenting clinical manifestation of placenta increta. PMID: 30888250 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - March 21, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Molecular Detection of Adeno-Associated Virus DNA in Cases of Spontaneous and Therapeutic Abortion.
CONCLUSION: There was no statistically significant difference between the presence of the AAV genome in spontaneous and therapeutic abortions. This observation was consistent with other studies in this area. PMID: 30821558 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - March 5, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Pediatric Acral Angioleiomyoma: Report of an Unusual Case and Review of the Literature.
CONCLUSIONS: Angioleiomyoma is uncommon in children, particularly at acral sites. We describe the first such lesion to display a plexiform growth pattern. PMID: 30786800 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - February 24, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

A Hemizygous 370 Kilobase Microduplication at Xq13.1 in a Three-Year-Old Boy With Autism and Speech Delay.
CONCLUSION: NLGN3, TAF1, and MED12 alterations, located on Xq13.1, have been associated with ASD. TAF and MED12 have other clinical features not present in our case. This supports that duplication of NLGN3 may be associated with ASD. PMID: 30757938 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - February 15, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Thiol-Disulfide Homeostasis, Serum Ferroxidase Activity, and Serum Ischemia Modified Albumin Levels in Neonatal Jaundice.
CONCLUSION: Altered thiol/disulfide homeostasis in the favor of disulfide indicates augmented oxidative stress in jaundiced term infants. The lack of alteration in ferroxidase or IMA levels suggests these latter alterations take more time or more severe oxidative stress to become altered or are not as sensitive as the thiol/disulfide ratio to detect oxidative stress states. PMID: 30741063 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - February 12, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Increased Autophagy and Apoptosis in the Kidneys of Intrauterine Growth Restricted Rats.
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. Immunohistochemical expressions of LC3B, Bax, and Bcl-2 were evaluated at 4 weeks age. Glomerular counts (by maceration techniques) were performed at 5 weeks. RESULTS: The LP diet offspring were lighter (P 
Source: Fetal and Pediatric Pathology - February 12, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Fetal Right Aortic Arch: A Quantitative Method of Outcome Prediction.
Authors: Zhang MX, Zhao BW, Pan M, Wang B, Peng XH, Chen R Abstract 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). RESULT: A significant increase in mean distance was observed in the study group (4.89 ± 1.07 mm) compared to the control group (1.62 ± 0.33 mm, p
Source: Fetal and Pediatric Pathology - February 9, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Corrigendum.
Authors: PMID: 30729876 [PubMed - in process] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - February 9, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Frequencies of Immune Cells in the Human Small Bowel During Normal Gestation and in Necrotizing Enterocolitis.
CONCLUSION: Throughout gestation, we found an increase of all examined immune cell types in the normal small bowel, while the number of B cells came to a standstill at midway. Future studies should examine subtypes of T cells and also include histiocytes. A larger amount of small bowel specimens, covering the full gestational age, would be of great value. PMID: 30689475 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 30, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Giant Hepatic Hemangioma and Placental Chorangiosis: A Unique Case of Stillbirth?
CONCLUSION: A common pathogenetic pathway between congenital HH and placental chorangiosis has not been reported. Our case suggests that the effects of HH and chorangiosis increase the risk of late fetal loss due to the high-output CHF. PMID: 30676122 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 26, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Absent Pulmonary Valve Syndrome in a Fetus: A Case Report and Literature Review.
CONCLUSION: The APVS with intact ventricular septum with an absent ductus arteriosus may represent a third type of APVS. PMID: 30661433 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 23, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Congenital Large Cutaneous Hemangioma with Arteriovenous and Arterioarterial Malformations: A Novel Association.
CONCLUSION: Congenital hemangioma can be associated with vascular malformations, and that associations with other vascular malformations may increase the morbidity/mortality. PMID: 30661487 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 23, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Comparative Analysis of Flow Cytometry and Cytomorphology for Neuroblastoma Cell Detection in Effusion and Bone Marrow Specimens.
Conclusionsļ¼šFCM can be used as an adjunct to CM for the detection of NB cells in effusion specimens. PMID: 30667298 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 23, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Placental Growth Factor and Endothelial Cell-Specific Molecule 1 Levels in Discordant and Concordant Twins and Their Effects on Fetal Growth.
CONCLUSION: The growth discordance may not be attributable to the different PGF levels, but the difference in PGF level may be a consequence. PMID: 30646809 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 17, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

TRAP Sequence in Monochorionic/Monoamniotic (MC/MA) Discordant Twins: Two Cases Treated with Fetoscopic Laser Surgery.
CONCLUSION: Our experience confirms that the best timing and optimal treatment of MC/MA twins complicated by TRAP sequence still remains a controversial clinical issue. Cord entanglement may continue be a potential clinical risk factor for adverse perinatal outcome even after ablation therapy. PMID: 30636554 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 16, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Single Nucleotide Polymorphisms of PTPN22 Gene in Iranian Patients with Ulcerative Colitis.
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. The samples were genotyped for the, rs12760457, rs2476601, rs1310182, rs1217414, and rs33996649 in PTPN22 gene using real-time polymerase chain reaction (PCR) allelic discrimination TaqMan genotyping assays. RESULTS: The frequencies of the rs1310182 A and G alleles, and also the AA and GG genotypes were significantly different betwee...
Source: Fetal and Pediatric Pathology - January 16, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Cardiac Findings in Fetal and Pediatric Autopsies: A 15-Year Retrospective Review.
CONCLUSION: Postmortem examination is important to delineate the anatomy of CHDs, and recognize extracardiac malformations for identification of possible genetic syndromes. This information can be used for parental counseling and for assessment of accuracy of pre-mortem imaging studies. PMID: 30633599 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 13, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Placental Pathology in Beckwith-Wiedemann Syndrome According to Genotype/Epigenotype Subgroups.
CONCLUSIONS: There was no genotype/epigenotype-phenotype correlation concerning placental lesions in BWS. Diffuse EVT cytomegaly with polyploidy may represent a placental finding suggestive of BWS. PMID: 30633605 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 13, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia.
CONCLUSION: Genetic tests are helpful in order to counsel the susceptible individuals to avoid vitamin D and take preventive measures in order to avoid complications. PMID: 30633617 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 13, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

The Work of Becerra-Solano et al. (2008) on Amniotic Disruption-Adhesion-Mutilation (ADAM or DAB) Sequence Deserves Comment.
Authors: Opitz JM PMID: 30614362 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 9, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum.
CONCLUSION: Outcome is poor for these fetuses, EC can occur in a multiple pregnancy, most of the abnormalities can be identified in the first trimester and fetopsy continues to add information to the intrauterine diagnosis. PMID: 30600745 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 3, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Direct Immunofluorescence Results of the Skin Biopsy and Frequency of Systemic Involvement in Children with Henoch-Schonlein Purpura.
CONCLUSION: Pediatric HSP patients who had C3 deposition in their skin DIF should be selected for further evaluation regarding HSP nephritis. PMID: 30600750 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 3, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Antenatal Cytomegalovirus Infection Screening Results of 32,188 Patients in a Tertiary Referral Center: A Retrospective Cohort Study.
CONCLUSION: This study shows the prevalence of Cytomegalovirus infections in a tertiary referral center in Turkey. Although universal screening is not recommended, it can be helpful for the prevention of congenital infection for seronegative women to be advised to at-risk patients due to high prevalence of CMV exposure. PMID: 30600762 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 3, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal Cases.
CONCLUSION: Although the phenotype and the genotype of BWS is now well-known, the presence of corpus callosum abnormalities and short femurs expand the phenotypic spectrum of the disorder. PMID: 30595068 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 2, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Neonatal Acute Liver Failure Associated with Angioinvasive Hepatic Zygomycosis.
CONCLUSION: Angioinvasive hepatic zygomycosis can present in the neonatal period as NALF. PMID: 30595071 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 2, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Multifocal Rounded Intraplacental Hematomas, Placental Abruption and Intrauterine Fetal Demise.
CONCLUSIONS: The findings of RIHs, hemorrhagic infarcts, and lesions in between support the evolution of hemorrhagic villous infarctions from RIHs. These lesions can arise in the second trimester, and can be detected by ultrasound. These multiple lesions in various stages of evolution suggest an ongoing rather than a discrete insult. PMID: 30592229 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - December 30, 2018 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS.
CONCLUSIONS: To our best knowledge, these novel mutations in the NBAS gene have not been reported. Normal bone age with growth hormone deficiency in this patient is different from the patients with SOPH syndrome that have been previously reported. These findings enrich the mutant spectrum of the NBAS gene and add our understanding of SOPH syndrome. PMID: 30592236 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - December 30, 2018 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

A novel CFTR gene variant - p.Tyr517* associated with cystic fibrosis: a case report.
CONCLUSION: The novel pathogenic variants (missense/nonsense/deletion/duplication) in CFTR gene are often identified and are associated with CF, thus highlighting the need of comprehensive complete CFTR gene analysis. PMID: 30588852 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - December 29, 2018 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Rotavirus Infection Enhances Levels of Autoantibodies Against Islet Cell Antigens GAD65 and IA-2 in Children with Type 1 Diabetes.
CONCLUSIONS: Our findings support the hypothesis that rotovirus infection may induce T1DM in children. PMID: 30588857 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - December 29, 2018 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Recurrence of Basal Plate Myofibers, with Further Consideration of Pathogenesis.
CONCLUSIONS: These findings appear to validate screening for BPMF. The 100% recurrence rate suggests evaluation for a heritable factor, i.e., protease inhibitor deficiency, which may explain pre-delivery basal plate damage. PMID: 30588864 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - December 29, 2018 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

De Novo Mutated TUBB2B Associated Pachygyria Diagnosed by Medical Exome Sequencing and Long-Range PCR.
CONCLUSION: The combination of LR-PCR amplification and medical exome sequencing allows mutational assessment in tubulinopathy genes. Our study expands the spectrum of malformations associated with mutations in the β-tubulin gene TUBB2B. PMID: 30585108 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - December 27, 2018 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research