Use of non-genetic biomarkers including anti-GAD65, anti-Insulin (II) and C-peptide in differentiating MODY type diabetes in a population of diabetic patients in Isfahan province

Background and aims: Diabetes mellitus is a group of metabolic disorders in the body, accompanied with increasing blood sugar levels. Diabetes is classified into 3 groups: Type 1 (T1DM), Type 2 (T2DM) and monogenic diabetes. Maturity-onset diabetes of the young (MODY) is a monogenic diabetes that is frequently mistaken for T1D or T2D. The aim of this study was to diagnose MODY using non-genetic biomarkers and determine its frequency in the population of Isfahan province. This, in addition to saving time and cost, is important for prognosis and appropriate treatment. Methods: In this analytical descriptive study 2085 diabetic patients with a 2-6 years of disease were examined and after assessing the clinical symptoms, in 57 cases with clinical symptoms for MODY, three markers (C-peptide, anti-GAD65 and anti-insulin (II)) were measured by ELISA method and compared with healthy cases and confirmed T1D and T2D patients. Results: In this analytical descriptive study, among 2085 diabetic patients, in 500 cases of them, the incidence of the disease was before the age of 25 years of old and after measuring 3 mentioned biochemical markers, 41 cases were negative for anti-GAD65 and anti-Insulin and had detectable C-peptide level and the differences in the levels of these three markers in suspected MODY group were meaningful (P<0.001 for anti-GAD65, P<0.017 for anti-Insulin (II) and P<0.009 for C-peptide). Conclusion: The use of proprietary non-genetic biomarkers is very valuable for MODY detection and could be used alongside other clinical features to screen a large number of patients with diabetes. Ultimately, only suspect cases must be selected for genetic tests

Association of Neo Angiogenesis by CD34 Expression and Clinicopathologic Features in Squamous Cell Carcinoma of Cervix

Tumor angiogenesis is one of the most important factors in tumor progression. In this study, the angiogenesis of cervical squamous cell carcinoma (SCC) and its association with prognostic factors was assessed by using CD34 immunostaining marker. The microvessel density in 40 patients with cervical SCC was studied in three areas of the tumor; stromal and peripheral tumor area (combined) central stromal tumor area and peripheral tumor area and the relationship of microvascular density and survival was also evaluated. The count of CD34 is correlated with younger age, the presence of perineural invasion and metastasis to lymph nodes. High peripheral tumor angiogenesis is also correlated with lower disease-free tumor survival. According to the findings of the present study, CD34 expression, especially in peripheral tumor areas, can be used as a prognostic marker in cervical SCC

Conjoined twins in a monochorionic triplet pregnancy after in vitro fertilization: a case report

Background: Monozygotic monochorionic triplet pregnancy with conjoined twins is a very rare condition and is associated with many complications. Case: In this study, we describe a monochorionic–diamniotic triplet pregnancy after in vitro fertilization with an intracytoplasmic sperm injection. At a gestational age of 6 weeks and 4 days of pregnancy one gestational sac was observed, and at a gestational age of 12 weeks and 2 days, triplets with conjoined twins were diagnosed. After consulting with the parents, they chose fetal reduction of the conjoined twins. Selective feticide was successfully performed by radiofrequency ablation at 16 weeks of pregnancy. Unfortunately, the day after the procedure, the membrane ruptured, and 1 week later, all fetuses and placenta were spontaneously aborted. Conclusion: Monochorionic triplet pregnancy with conjoined twins is very rare. These pregnancies are associated with very serious complications. Intra cytoplasmic sperm injection increases the rate of monozygotic twinning and conjoined twins. Counseling with parents before IVF is very important

Molecular Genetic Study in a Cohort of Iranian Families Suspected to Maturity-Onset Diabetes of the Young, Reveals a Recurrent Mutation and a High-Risk Variant in the CEL Gene

Background: Diabetes mellitus (DM) is a group of metabolic disorders in the body, accompanied with increasing blood sugar levels. Diabetes is classified into three groups: Type 1 DM (T1DM), Type 2 DM (T2DM), and monogenic diabetes. Maturity-onset diabetes of the young (MODY) is a monogenic diabetes that is frequently mistaken for T1D or T2D. The aim of this study was to diagnose MODY and its subtype frequency in a diabetic population in Iran. Materials and methods: In this study among ten diabetic families that were highly suspected to MODY by nongenetic biomarkers and without any pathogenic mutation in GCK and HNF1A genes, two patients from two unrelated families were examined via whole-exome sequencing (WES) in order to detect the causative gene of diabetes. Co-segregation analysis of the identified variant was performed using Sanger sequencing. Results: In this study, no pathogenic variant was found in GCK and HNF1A genes (MODY2 and MODY3), while these two types of MODY were introduced as the most frequent in other studies. By using WES, a pathogenic variant (p.I488T) was found in one of the patients in CEL gene causing MODY8 that its frequency is very rare in other studied populations. A high-risk variant associated with diabetes was found in another patient. Conclusion: WES was applied in this study to reveal the cause of MODY in 1 family. This pathogenic mutation was previously reported as a disease causing mutation. Keywords: Carboxyl ester lipase; maturity-onset diabetes of the young; pathogenic variant; whole-exome sequencing