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Background: Nearly 0.6%-7% of patients undergoing in vitro fertilization embryo transfer (IVF ET) will not be able to yield any oocyte despite successful ovarian stimulation and this condition is called as empty follicular syndrome (EFS). EFS is a dreadful situation for clinicians as well as patients, seems to be an unavoidable clinical condition despite a proper ovarian stimulation., Materials and Methods: This was a retrospective observational study conducted at a tertiary hospital; 1103 patients who underwent IVF ET between January 2016 and May 2017 were included in the study., Study Outcome: To estimate the incidence of empty follicle syndrome (EFS) and to study the associated factors., Results: There were 53 (4.8%) cases of EFS out of 1103 cycles of IVF ET; 43 (3.9%) cases were false EFS and 10 (0.9%) cases were genuine EFS. Mean age of EFS group and oocyte retrieved group was 30.17 years and 29.12 years respectively. Recurrence rate of EFS during the next IVF cycle was 36.8%. Decreased ovarian reserve was associated with an increased chance of EFS (54.7%) with a recurrence rate as high as 57%., Conclusion: The incidence of EFS is not an uncommon clinical scenario; it depends upon ovarian reserve to a great extent. Young age is not immune for the occurrence of EFS as there is a similar incidence in comparatively younger age group in our study. EFS is seen in all etiological groups of infertility, but only respite is that there is a chance of about 63.2% oocyte retrieval during repeat IVF cycle., Competing Interests: There are no conflicts of interest., (Copyright: © 2020 Journal of Human Reproductive Sciences.)

Aim: To assess the effect of ethnicity, the association of WC, WHR and hypertension along with PGC-1α (Gly482Ser), UCP2 -866 G/A and SIRT1 -1400 T/C polymorphisms in seven endogamous caste groups and pooled population of Punjab., Methods: Study was conducted on 1813 individuals (859 T2D patients and 954 healthy controls) belonging to seven endogamous groups. Waist and hip circumference, height, weight and blood pressure were recorded following standard protocol using designed performa. PGC-1α (Gly482Ser) and UCP2 -866 G/A polymorphisms were genotyped using PCR RFLP and SIRT1 -1400 T/C was genotyped by direct DNA sequencing., Results: WHR conferred risk in Brahmins (p=0.00003), Khtaris (p=0.001) and SCs (p=0.02). Similarly, we detected that WC conferred risk in BCs (p=0.012), Brahmins (p=0.016), Jat Sikhs (0.00025), Khatris (0.005) and SCs (p=0.015). In pooled population, all three factors imparted risk (WHR (p=0.00001), hypertension (p=0.003) and WC (p=0.0000016)). With respect to gene polymorphism, PGC-1α (Gly482Ser) was associated in Banias (p=0.0003), Jat Sikhs (p=0.003) and Khatris (p=0.03). Similarly, UCP2 -866 G>A showed risk in Banias (p=0.000004), BCs (p=0.01) and SCs (p=0.01). However, SIRT1 -1400 T>C showed risk only in Khatris (p=0.004). In the pooled population of Punjab, both PGC-1α (Gly482Ser) [p=0.001] and UCP2 -866 G>A (p=0.0001) polymorphisms provided risk. Interaction analysis showed 72% of the patients had risk combination of PGC-1α XA and UCP2-866 XA genotypes., Conclusions: Based on the data, Khatris were found to be showing the highest susceptibility to T2D followed by SCs. Different combinations of factors provided risk in each caste group and in pooled population. Therefore, to curve the menace of T2D, detailed information about the ethnic background of the individual will be very useful for proper medical intervention., (Copyright © 2015. Published by Elsevier B.V.)

Background: The International Liaison Committee on Resuscitation (ILCOR) and U.K. Resuscitation Council (UKRC) updated guidance on newborn resuscitation in late 2010., Objectives: To describe delivery room (DR) practice in stabilisation following very preterm birth (<32 weeks gestation) in the U.K., Methods: We emailed a national survey of current DR stabilisation practice of very preterm infants to all U.K. delivery units and conducted telephone follow-up calls., Results: We obtained 197 responses from 199 units (99%) and complete data from 186 units. Tertiary units administered surfactant in the DR (93% vs. 78%, P=0.01), instituted DR CPAP (77% vs. 50%, P=0.0007), provided PEEP in the delivery room (91% vs. 69%, P=0.0008), and started resuscitation in air or blended oxygen (91% vs. 78%, P=0.04) more often than non-tertiary units. Routine out of hours consultant attendance at very preterm birth was more common in tertiary units (82% vs. 55%, P=0.0005)., Conclusions: Marked variation in DR stabilisation practice of very preterm infants persisted one year after the publication of revised UKRC guidance. Delivery room care provided in non-tertiary units was less consistent with current international guidance., (Copyright © 2013 The Authors. Published by Elsevier Ireland Ltd.. All rights reserved.)

Type 2 diabetes (T2D) is a syndrome of multiple metabolic disorders and is genetically heterogeneous. India comprises one of the largest global populations with highest number of reported type 2 diabetes cases. However, limited information about T2D associated loci is available for Indian populations. It is, therefore, pertinent to evaluate the previously associated candidates as well as identify novel genetic variations in Indian populations to understand the extent of genetic heterogeneity. We chose to do a cost effective high-throughput mass-array genotyping and studied the candidate gene variations associated with T2D in literature. In this case-control candidate genes association study, 91 SNPs from 55 candidate genes have been analyzed in three geographically independent population groups from India. We report the genetic variants in five candidate genes: TCF7L2, HHEX, ENPP1, IDE and FTO, are significantly associated (after Bonferroni correction, p<5.5E-04) with T2D susceptibility in combined population. Interestingly, SNP rs7903146 of the TCF7L2 gene passed the genome wide significance threshold (combined P value = 2.05E-08) in the studied populations. We also observed the association of rs7903146 with blood glucose (fasting and postprandial) levels, supporting the role of TCF7L2 gene in blood glucose homeostasis. Further, we noted that the moderate risk provided by the independently associated loci in combined population with Odds Ratio (OR)<1.38 increased to OR = 2.44, (95%CI = 1.67-3.59) when the risk providing genotypes of TCF7L2, HHEX, ENPP1 and FTO genes were combined, suggesting the importance of gene-gene interactions evaluation in complex disorders like T2D.

Background: Iran is ethnically, linguistically and religiously diverse. However, little is known about the population genetics of Iranian religious communities., Aim: This study was performed in order to define the different paternal components of the Iranian gene pool., Subjects and Methods: Fourteen Y chromosome bi-allelic markers were analysed in 130 male subjects from Assyrian, Armenian and Zoroastrian groups in comparison with 208 male subjects from three Iranian Muslim groups., Results: Among the three Iranian Muslim groups, the Uromian people possessed a particularly close genetic relationship to the Armenian, whereas the Zoroastrian group was different from the Uromian, but had a close genetic relationship to the two other Muslim groups (Kermanian and Shirazian). The genetic results indicate a relationship between Armenian and Assyrian groups in Iran and a clear distinction of the former from the Zoroastrian group. However, Assyrians had elevated frequency (40%) of R*(xR1a) and low frequency (11%) of J., Conclusion: The results of this study may suggest that the Assyrian population either experienced Eurasian gene flow (possibly from Armenia) or that enforced relocations and expulsion of conquered people with different origin led to the integration of descendants with R haplogroup. This could also be due to genetic drift due to small population size and endogamy resulting from religious barriers.

Mitochondrial DNA alterations in recent years have been suggested as modifier events, providing a possible proliferative advantage to the tumor cells. In order to provide further insight into the process of tumorigenesis, a study of whole mitochondria genome was conducted in 134 tissue samples obtained from 2 unrelated cancers (tumor and adjacent normal tissues from 36 breast cancer and 31 esophageal squamous cell carcinoma (ESCC) patients) with known p53 somatic mutation background. Fifteen of 36 (41.66%) breast and 12 of 31 (38.71%) ESCC tumors were found to contain at least 1 mtDNA somatic mutation, which correlated significantly with the concomitant presence of somatic mutation in DNA binding domain of the p53 gene (Breast cancer, p = 0.006; ESCC, p = 0.002). Interestingly, mutations in the non D-loop region of the mtDNA contributed significantly (Breast cancer, p = 0.004; ESCC, p = 0.032) in comparison to the hotspot-D-Loop-region. The concomitant presence of mutations in p53 and mtDNA were also predominant in breast cancer tumors with poor prognosis, that is, with the advanced stage, grade and the ER/PR negativity. Also, the observation made was apparently well explained in 10398A bearing N haplogroup genetic background with increased presence of novel and pathogenic germline mutation in mtDNA. Our study suggests that the concomitant presence of somatic alteration in mtDNA and the DNA binding domain of the p53 gene facilitates cell survival and tumorigenesis, requiring specialized therapeutic intervention because of a possible resistance to conventional chemotherapy., ((c) 2008 Wiley-Liss, Inc.)