Serum Copeptin Levels in Threatened Preterm Labor.
Conclusions: Serum copeptin is higher in threatened preterm labor. It does not differentiate those with threatened preterm labor verses preterm birth. PMID: 32050829 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - February 15, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Prenatal Sonographic Detection of Monochorionic Twins with Bipartite Placenta.
Conclusion: Two separate placentas with a T-sign in same-sex twins should raise the suspicion of monozygosity, and should be followed accordingly. PMID: 32050832 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - February 15, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

The Effect of Midazolam on Oxidative Stress and Apoptosis in Preterm Infants.
Conclusion: Our study indicated that the treatment with midazolam and caffeine increased TAC and decreased apoptosis markers in preterm infants. PMID: 32000555 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - February 2, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Percutaneous Route of Life: Chylothorax or Total Parenteral Nutrition-Related Bilateral Pleural Effusion in a Neonate?
Conclusions: To our knowledge, this is the first case of bilateral PLE due to PICC complication in a neonate, which highlights the importance of chylothorax differential diagnosis, the role of autopsy, and the need for clinical precautions when providing premature neonates with high osmolarity TPN. PMID: 32000556 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - February 2, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

A Novel Homozygous Mutation in CYP11A1 Gene is Associated with Severe Adrenal Insufficiency in 46, XX Patient.
Conclusion: Different types of inheritance patterns have been observed in CYP11A1-related adrenal insufficiency cases. We consider our case is an due to an autosomal recessive inheritance. PMID: 32000563 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - February 2, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss.
Conclusion: These results explain the negligible prevalence of selected mutations among Iranian patients. Identifying common mutations in patients of an ethnic group can reduce the financial costs and time needed for identifying the causes of deafness. PMID: 31997689 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 31, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Abnormal Umblical Artery Doppler is Utilized for Fetuses with Intrauterine Growth Restriction Birth at 280/7-336/7 Gestational Weeks.
This study included preterm births (280/7-336/7 gestational weeks) with IUGR with AREDF (n = 86) or NEDF (n = 27). Results: There were lower mean gestational weeks, birth weights, and a higher ratio of corticosteroid application in the AREDF group (p 
Source: Fetal and Pediatric Pathology - January 31, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Complete Hydatidiform Mole and Co-Existing Live Fetus after Intracytoplasmic Sperm Injection: A Case Report and Literature Review.
Conclusion: CHMCF may occur after ICSI treatment. Pregnancies with CHMCF are associated with severe complications however under close follow-up successful outcomes could be achieved in such pregnancies. PMID: 31997691 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 31, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency.
Conclusion: In the few cases of interstitial 17q22 deletion in the literature, this is the first with growth hormone deficiency. This may contribute to the phenotypic spectrum of 17q22 microdeletion syndrome. As the reported cases increase, we believe that genotype-phenotype correlation will be better illuminated. PMID: 31997693 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 31, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Craniorachischisis with Exencephaly.
Conclusion: Although mostly associated with anencephaly, craniorachischisis can also be associated with exencephaly in early pregnancy. PMID: 31986946 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 30, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Gastroduodenal Intussusception Due to Gastric Mucosal Prolapse Polyp in a 2-Year-Old Child.
Conclusion: Anemia may accompany a gastric mucosal prolapse polyp. PMID: 31986949 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 30, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

CD42b Immunostaining as a Marker for Placental Fibrinoid in Normal Pregnancy and Complications.
Conclusion: Fibrin-type fibrinoid within the intervillous spaces are mostly from maternal circulation and these fibrinoids are likely the result of the laminar flow change at specific anatomic locations, leading to activation of coagulatory cascades. The pathogenesis of matrix-like fibrinoid is unclear. CD42b immunostaining is helpful in differentiation of the types of fibrinoid in difficult cases. PMID: 31986954 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 30, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Bone Turnover Markers and Bone Histomorphometry in Pubertal Rats with Intrauterine Growth Restriction.
Conclusion: The effect of IUGR on bone development may persist after birth. PMID: 31989849 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 30, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Cumulative Evidence for Association of IL-10 -1082G   >  A Polymorphism with Susceptibility to Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis.
Conclusions: Our pooled data highlights that IL-10 -1082 G > A polymorphism is a risk factor for RPL susceptibility in the global population, especially in Caucasians. PMID: 31990237 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 30, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Presentation of Infantile Hemangiopericytoma/Solitary Fibrous Tumor as a Giant Extracranial Temporal Mass.
Conclusion: Infantile HPC/SFT of head and neck can grow rapidly during the infantile period. Complete excision without mutilating surgery should be curative. PMID: 31994965 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 30, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Molecular Genetics of Cleidocranial Dysplasia.
Conclusion: a definite diagnosis of CCD should include the patient's clinical history, symptoms and signs, as well as genetic analyses. PMID: 31984822 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 29, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Negative Effects of Noise on NICU Graduates' Cochlear Functions.
Conclusion: Hearing tests performed at sixth-months of life were adversely affected in NICU graduates. PMID: 31984823 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 29, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Histopathologic ─ Endoscopic Concordance of Pediatric Duodenal Biopsy; How to Be Improved?
Conclusion: This study showed a higher rate of pediatric duodenal pathologies than gross assessment. This emphasizes the value for acquiring routine duodenal biopsies from grossly normal mucosa. PMID: 31984824 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 29, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Expression of the IL-2R in Human Podocytes and the Effect of Activation on Autophagy and Apoptosis.
Conclusion: Human podocytes express the IL-2R and activation results in increased autophagy and apoptosis. PMID: 31971468 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 24, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Association of MMP-2, MMP-3, and MMP-9 Polymorphisms with Susceptibility to Recurrent Pregnancy Loss.
Conclusion: MMP-3 rs35068180 polymorphism may modulate RPL risk in Iranian women. There is no evidence to suggest that MMP-2 (rs243865, rs2285053) and MMP 9 (rs3918242, rs17576) polymorphisms are associated with RPL risk. PMID: 31955640 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 21, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Association of Endothelial Nitric Oxide Synthase 894G   >  T Polymorphism with Preeclampsia Risk: A Systematic Review and Meta-Analysis based on 35 Studies.
Conclusion: Based on our meta-analysis, the eNOS 894 G > T polymorphism was associated with an increased risk of preeclampsia, especially among Caucasian and Mixed populations. PMID: 31920131 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 11, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Ectopia Cordis: 6-Year Survival without Surgical Correction.
Conclusion: Ectopia cordis most commonly results in stillbirth or neonatal death without surgical treatment. This report highlights the exceptional 6-year survival of a child without surgical correction. PMID: 31914845 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 10, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Association of BMP4 rs17563 Polymorphism with Nonsyndromic Cleft Lip with or without Cleft Palate Risk: Literature Review and Comprehensive Meta-Analysis.
Conclusions: This meta-analysis suggests that BMP4 rs17563 polymorphism was not associated with NSCLP risk in overall population. However, BMP4 rs17563 polymorphism may be a risk factor for development of NSCLP in Chinese and Brazilians. PMID: 31909686 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 9, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Fetal Genetic Diagnosis by Chorionic Villus Sampling: Evaluation of the Five-Year Experience from a Single Center.
Conclusion: Although significant advances have been made in noninvasive methods such as NIPT, CVS is still a reliable technique for cytogenetic diagnosis in early gestation. PMID: 31900003 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 6, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Association of TNF- α rs1800629, CASP3 rs72689236 and FCGR2A rs1801274 Polymorphisms with Susceptibility to Kawasaki Disease: A Comprehensive Meta-Analysis.
Conclusions: This meta-analysis suggested that CASPS rs72689236 and FCGR2A rs1801274 polymorphisms may modulate individual susceptibility to KD. PMID: 31884867 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - December 31, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Diagnostic Dilemma of an Umbilical Mass in a Newborn Infant - a Twin or a Tumor?
Conclusion: This parasitic omphalopagus heteropagus parasitic twin presented as two amorphous masses without externally identifiable anatomic structure, The parasitic twin of omphalopagus heteropagus may have unusual presentations. Histopathological examination was essential to diagnose whether it is a twin or a tumor. PMID: 31875762 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - December 28, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Association of Fetal MTHFR 677C   >  T Polymorphism with Non-Syndromic Cleft Lip with or without Palate Risk: A Systematic Review and Meta-Analysis.
Conclusions: This meta-analysis provides strong evidence that fetal MTHFR 677 C > T polymorphism is significantly associated with NSCL ± P risk. PMID: 31880477 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - December 28, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

An Updated and Comprehensive Meta-Analysis of Association between VEGA -634G   >  C, -460T  >  C, +405G  >  C and +936C  >  T Polymorphisms and Retinopathy of Prematurity Risk.
Conclusions: This meta-analysis indicates that VEGF-A -460T > C polymorphism may contribute to the susceptibility for ROP. PMID: 31846376 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - December 18, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Does Exposure of Smart Phones during Pregnancy Affect the Offspring's Ovarian Reserve? A Rat Model Study.
Conclusions: Ovarian reserve of offspring diminished with RF exposure during pregnancy. Omega-3 supplementation during pregnancy may reduce the potential premature ovarian failure. PMID: 31820670 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - December 11, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

A Case of a Derivative Chromosome: der(Y)t(Y;18)Pat with Congenital Abnormalities.
Conclusion: These findings expand our current knowledge of the mutation spectrum of Y-autosomal translocations associated with dysmorphosis. PMID: 31805817 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - December 8, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Plasma Endocan Levels in Early and Late-Onset Preeclampsia.
Conclusion: There was no significant difference between endocan levels of early or late-onset PE compared with their corresponding control groups, nor between early and late-onset preeclampsia groups. PMID: 31769346 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - November 28, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Oxidative-Antioxidative Markers in Pregnant Women with Fetal Neural Tube Defects.
Authors: Özyer S, Ozel S, Karabulut E, Kahyaoglu S, Neselioglu S, Erel O, Engin-Ustun Y Abstract Objective: We compared markers of oxidative stress (OS) in mothers with and without fetal neural tube defects (NTDs). Methods: Pregnant mothers in the second trimester with NTD-affected fetuses and age, gestational age, and body mass index-matched control mothers with unaffected fetuses were included. Maternal serum thiol-disulfide homeostasis parameters and ischemia-modified albumin (IMA) were measured. Results: In 30 affected mothers compared to 31 controls, disulfide levels, disulfide/native thiol, and disulfide...
Source: Fetal and Pediatric Pathology - November 27, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Successful Mesenchymal Stem Cell Application in Supraventricular Tachycardia-Related Necrotizing Enterocolitis: A Case Report.
Conclusion: MSC may be a promising treatment for adjacent ischemic bowel in NEC helping prevent short bowel syndrome. PMID: 31755792 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - November 24, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Association of IL-6 -174G   >  C and -572G  >  C Polymorphisms with Risk of Legg-Calve-Perthes Disease in Iranian Children.
Conclusions: Our results suggest that the IL-6 -174 G > C but not the IL-6 -597 G > C polymorphism may increase LCPD susceptibility in Iranian children. PMID: 31757175 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - November 24, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Solitary Bone Cyst Like Areas in Myositis Ossificans: A Breast Mass in a Child.
Conclusion: Our case represents the first myositis ossificans case with central bone cyst like changes in a child. PMID: 31757181 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - November 24, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Monitoring the Frequency and Duration of Hypoglycemia in Preterm Infants and Identifying Associated Factors.
Authors: Fernández Martínez MDM, Llorente JLG, de Cabo JM, López MAV, Porcel MDCO, Rubio JDD, Perales AB Abstract Background: Hypoglycemia is common in very low birth weight neonates and may have adverse effects. Material and Method: Sixty preterm infants were monitored using continuous glucose monitoring (CGMS) and capillary techniques during the first week of life. Hypoglycemia was defined as glucose ≤47 mg/dL (≤2.6 mmol/L). Results: Hypoglycemic episodes were detected in 41.66% (95% CI: 29.07-55.12). In 69.64% the duration was greater than thirty minutes, in 26.78% (95% C...
Source: Fetal and Pediatric Pathology - November 20, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Cumulative Evidence for Association between IL-10 Polymorphisms and Kawasaki Disease Susceptibility: A Systematic Review and Meta-Analysis.
Conclusions: Our results revealed that IL-10 -592 A > C polymorphism was associated with risk of KD, while IL-10 -1082 A > G and -819 T > C polymorphisms were not involved in the development of KD. PMID: 31738634 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - November 20, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Myofibromatosis.
Conclusion: The SRF-RELA gene fusion may represent a subset that in the future may be used to differentiate these myofibromas/myopericytomas from the ACTB-GLI fusion myopericytomas, and PDGFRB may be used to perhaps separate out familial myofibromas from other myofibromas. PMID: 31738635 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - November 20, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Association of Neuregulin 1 rs7835688  G  >  C, rs16879552 T  >  C and rs2439302 G  >  C Polymorphisms with Susceptibility to Non-Syndromic Hirschsprung's Disease.
Conclusions: Our findings suggested that NRG1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms are not a risk factor in development of HSCR. PMID: 31738640 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - November 20, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Association of IL-6 -176G   >  C Polymorphism with Susceptibility to Preeclampsia: A Systematic Review and Meta-Analysis.
Conclusions: The results of meta-analysis indicated that IL-6 -176G > C polymorphism was not significantly associated with risk of preeclampsia in overall population. PMID: 31738646 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - November 20, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Recurrent Medical Termination of Pregnancy, Not Always the Same Pathology.
Conclusions: Most of recurrent cases of TOP do not seem related to the same cause. The occurrence of a monogenic disease or polymalformative syndrome should raise the suspicion of recurrence due to the same pathology. PMID: 31713443 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - November 14, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay.
Conclusions: Our finding along with previous studies provide more evidence of the clinical heterogeneity of diseases caused by mutations in PNKP which makes its clinical diagnosis difficult and highlights the importance of genetic testing to unravel the cause of these diseases. PMID: 31707899 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - November 13, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Utility of the Platelet-to-Lymphocyte Ratio in Diagnosing and Predicting Treatment Success in Preterm Neonates with Patent Ductus Arteriosus.
Authors: Karabulut B, Arcagök BC, Simsek A Abstract Background: We investigated the predictive ability of the platelet-to-lymphocyte ratio (PLR) in preterm infants to discriminate those with and without hemodynamically significant PDA (hsPDA and non-hsPDA), hsPDA defined by those requiring medical intervention.Methods: This observational retrospective cohort study included premature neonates (
Source: Fetal and Pediatric Pathology - November 13, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Focal Segmental Membranoproliferative Glomerulonephritis: A Histological Variant of Denys-Drash Syndrome.
Conclusion: Our findings, in combination with other reports, illustrate the clinicopathological heterogeneity of DDS. There are no universal recommendations for optimal management of patients with DDS due to the inability to accurately predict affected individuals' progress. PMID: 31707902 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - November 13, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Association of Interleukin-10 -1082G   >  A Polymorphism with Susceptibility to Preeclampsia: A Systematic Review and Meta-Analysis Based on 21 Studies.
Conclusions: Our results showed that IL-10 -1082 G > A polymorphism was significantly associated with an increased risk of preeclampsia. PMID: 31690147 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - November 8, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Impact of Increased Nuchal Translucency Values on Pregnancy Outcomes: A Tertiary Center Experience.
Conclusion: NT values above 99th percentile for gestational age seem to be associated with increased rates of chromosomal/structural abnormalities and adverse perinatal outcomes. PMID: 31696754 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - November 8, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Association of MTHFR 1298A   >  C Polymorphism with Susceptibility to Non-Syndromic Cleft Lip with or without Palate: A Case-Control Study and Meta-Analysis.
Conclusion: This meta-analysis indicates that MTHFR 1298A > C polymorphism may not contribute to NSCL ± P risk in overall. However, the MTHFR 1298A > C polymorphism was significantly associated with an increased risk of NSCL ± P in Asians and Iranian populations. PMID: 31682771 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - November 5, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Association of Genetic Polymorphisms of GREM1 Gene with Susceptibility to Non-Syndromic Cleft Lip with or without Cleft Palate in an Iranian Population.
Authors: Rafighdoost H, Poudineh A, Bahari G, Ghaffari H, Hashemi M Abstract Background: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is common congenital birth anomaly with multifactorial etiology. The GREM1 gene has been proposed to play a role in oral clefts development. Objective: The aim of the present study was to evaluate the correlation between GREM1 polymorphisms and the risk of NSCL/P in an Iranian population. Methods: Genotyping of rs7162202, rs12915554, rs3743105, rs1129456, and rs10318 polymorphisms of GREM1 gene in 150 NSCL/P and 152 healthy subjects was determined by the PCR-RFLP or T...
Source: Fetal and Pediatric Pathology - October 29, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Cardiac Magnetic Resonance Imaging Macroscopic Fibro-Fatty Infiltration of the Myocardium in Pediatric Patients with Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia.
Conclusion: Our study is designed to highlight how fibrofatty changes are minimal using CMRI in the pediatric population and how this can be a valuable tool to provide an additional method of diagnosis. PMID: 31625461 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - October 19, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

A Novel Atrx Mutation Presenting with Intellectual Disability and Severe Kyphoscoliosis.
Conclusion: The missense mutation we have described in our patients has not been previously reported. This finding enriches mutation spectrum of ATRX (OMIM #300032) gene. This missense mutation, which is associated with ID and kyphoscoliosis and without alpha-thalassemia, contributes to genotype-phenotype correlation of the ATR-X spectrum. This case report provides further evidence that reverse genetics is a useful approach in diagnostic process of syndromic patients in adulthood. PMID: 31608750 [PubMed - as supplied by publisher] (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - October 15, 2019 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research