Analysis of Gene Polymorphism in Skeletal Class-III Malocclusion Due to Mandibular Prognathism.

 Mandibular prognathism (MP) is a craniofacial deformity resulting from the combined effects of environmental and genetic factors. Although various linkage and genome-wide association studies for mandibular prognathism have identified multiple strongly associated regions and genes, the causal genes and variants responsible for the deformity remained ambiguous.  This research work was aimed to study the association between polymorphism rs10850110 of the gene and skeletal class-III malocclusion in our local population.

Association of Nucleotide Variants of GRHL3, IRF6, NAT2, SDC2, BCL3, and PVRL1 Genes with Nonsyndromic Cleft Lip With/Without Cleft Palate in Multigenerational Families: A Retrospective Study.

Background: Several genes are associated with the etiology of cleft lip and palate (CLP) in different populations. Many nucleotide variants on genes such as GRHL3, IRF6, NAT2, SDC2, BCL3, and PVRL1 were reported in different populations, but not studied in multigenerational cases in the Indian population.

Aim And Objective: The aim of this study is to evaluate whether nucleotide variants rs41268753, rs861020, rs1041983, rs1042381, rs2965169, and rs10790332 are involved in the etiology of nonsyndromic CLP (NSCLP) in multigenerational Indian families.

Association of Single Nucleotide Polymorphisms on Locus 18q21.1 in the Etiology of Nonsyndromic Cleft Lip Palate (NSCLP) in Indian Multiplex Families.

 Cleft lip palate (CLP) is a common congenital anomaly with multifactorial etiology. Many polymorphisms at different loci on multiple chromosomes were reported to be involved in its etiology. Genetic research on a single multigenerational American family reported 18q21.

Genetics of Dentofacial and Orthodontic Abnormalities.

The development of craniofacial complex and dental structures is a complex and delicate process guided by specific genetic mechanisms. Genetic and environmental factors can influence the execution of these mechanisms and result in abnormalities. An insight into the mechanisms and genes involved in the development of orofacial and dental structures has gradually gained by pedigree analysis of families and twin studies as well as experimental studies on vertebrate models.

Analysis of cellular models of clonal evolution reveals co-evolution of imatinib and HSP90 inhibitor resistances.

Treatment relapse due to clonal evolution was shown to be an independent factor for poor prognosis in advanced stages of chronic myeloid leukemia. Overcoming secondary resistance arising due to clonal evolution is still an unmet need and lack of adequate pre-clinical models hampers the identification of underlying mechanisms and testing of alternate treatment strategies. The current study thus aimed to create cellular models to study molecular mechanisms underlying clonal evolution and identify strategies to overcome the secondary drug resistance.

Association of MAPK4 and SOX1-OT gene polymorphisms with cleft lip palate in multiplex families: A genetic study.

Cleft lip and palate (CLP) is a common congenital anomaly. Many genes, like MAPK4 and SOX-1OT, are associated with its etiology in different populations. High-risk markers on these gene sreported in other populations were not studied in our population.

Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual.

Background: Klinefelter syndrome (KS) mosaicism 46,XX/47,XXY is an extremely rare disorder of sex development characterized by the presence of both ovarian and testicular tissues in the same individual. Both elements can be present in the same gonad (ovotestis) or separately in the same individual or as a unilateral ovotestis and the other side with testis or ovary. A mosaic with 46,XY would present with problems related to male infertility and in general, testicular insufficiency, but with a 46,XX mosaic, it is a completely rare presentation.

Genetic confirmation of T2DM meta-analysis variants studied in gestational diabetes mellitus in an Indian population.

Background: Meta-analysis is useful for combining the results of different studies statistically to confirm genuine associations in genetics. Based on earlier reports, we aimed to investigate the association between type 2 diabetes mellitus (T2DM) genetic variants identified in a previous meta-analysis in gestational diabetes mellitus (GDM) in an Indian woman.

Material And Methods: In this study, 137 pregnant women with GDM and 150 pregnant women were selected on the basis of their serum glucose levels.

In vivo evaluation of hypolipidemic and antioxidative effect of 'Ajwa' (Phoenix dactylifera L.) date seed-extract in high-fat diet-induced hyperlipidemic rat model.

In the present study, we investigated the hypolipidemic and hepatoprotective potential of the commercially available crushed Ajwa date seed-extract on the toxicity caused by the atorvastatin in high-fat diet (HFD)-induced hyperlipidemic rats. Male albino rats were divided into two main groups, Group I (normal control) and Group II (HFD); Group II was further divided into four subgroups: Group IIa (HFD control), Group IIb (Atorvastatin: A10)-6 rats were administered with 10 mg/kg atorvastatin daily for 30 days, Group IIc (Ajwa seed extract: AJ)-6 rats were given 1000 mg/kg Ajwa seed extract daily for 30 days, Group IId (AJ + A10)-6 rats were given Ajwa seed extract 1000 mg/kg and Atorvastatin 10 mg/kg daily for 30 days. The data obtained suggested that Ajwa seed extract lowered the serum cholesterol level in HFD rats and demonstrated the hepatoprotective effect in combination with atorvastatin by reducing the levels of ALT and AST.

Importance of glucokinase -258G/A polymorphism in Asian Indians with post-transplant and type 2 diabetes mellitus.

Type 2 diabetes mellitus (T2DM) and post-transplant diabetes mellitus (PTDM) are non-synonymous forms of diabetes. Glucokinase (GCK) plays a key role in glucose metabolism. The relationship between the GCK promoter and specific types of diabetes, such as PTDM and T2DM, in the Asian Indian population is unknown.

Type 2 Diabetes Mellitus and the Association of Candidate Genes in Asian Indian Population from Hyderabad, India.

Introduction: Genetic and environmental factors play an important role in susceptibility to type 2 diabetes mellitus (T2DM). Several genes have been implicated in the development of T2DM. Genetic variants of candidate genes are, therefore, prime targets for molecular analysis.

Epidemic Trends of Upper Gastrointestinal Tract Abnormalities: Hospital-based study on Endoscopic Data Evaluation.

Purpose: To understand the epidemiology of different upper gastrointestinal (UGI) tract related abnormalities through endoscopic data analysis.

Materials And Methods: A retrospective study of three years from January 2009 to December 2011 was conducted with data from endoscopic surveillance of upper GI tract problems, collected from the Gastroenterology Unit, Osmania General Hospital, Hyderabad. MS excel and Medcalc software (comparison of proportions) were used for data analysis.

Validation of the association of TCF7L2 and SLC30A8 gene polymorphisms with post-transplant diabetes mellitus in Asian Indian population.

The rs7903146 and rs13266634 polymorphisms in the TCF7L2 and SLC30A8 genes, respectively, have been reported to be associated with type 2 diabetes. However, little is known about the association of these polymorphisms with post-transplant diabetes mellitus (PTDM). To study this linkage, we determined a distribution of allele and genotype frequencies in Asian Indians.

Screening of mitochondrial mutations and insertion-deletion polymorphism in gestational diabetes mellitus in the Asian Indian population.

In this study we scrutinized the association between the A8344G/A3243G mutations and a 9-bp deletion polymorphism with gestational diabetes mellitus (GDM) in an Asian Indian population. The A3243G mutation in the mitochondrial tRNA(Leu(UUR)) causes mitochondrial encephalopathy myopathy, lactic acidosis, and stroke-like episodes (MELAS), while the A8344G mutation in tRNA(Lys) causes myoclonus epilepsy with ragged red fibers (MERRF). We screened 140 pregnant women diagnosed with GDM and 140 non-GDM participants for these mutations by PCR-RFLP analysis.

Correlation between and gene polymorphisms and type 2 and post-transplant diabetes mellitus in the Asian Indian population.

Type 2 diabetes mellitus (T2DM) and post-transplant diabetes mellitus (PTDM) share a common pathophysiology. However, diabetes mellitus is a complex disease, and T2DM and PTDM have different etiologies. T2DM is a metabolic disorder, characterized by persistent hyperglycemia, whereas PTDM is a condition of abnormal glucose tolerance, with variable onset after organ transplant.

Investigation of Calpain 10 (rs2975760) gene polymorphism in Asian Indians with Gestational Diabetes Mellitus.

Background: Type 2 Diabetes Mellitus (T2DM) and Gestational Diabetes Mellitus (GDM) are part of a heterogeneous and complex metabolic group of disorders that share common pathophysiological circumstances, including β-cell dysfunction and insulin resistance. The protein Calpain 10 (CAPN10) plays a role in glucose metabolism, pancreatic β-cell insulin secretion, and thermogenesis.

Objective: Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) based genotyping of CAPN10 (rs2975760) polymorphism was carried out in T2DM and GDM with suitable controls for each of the pathologies from the same population.

Anthropometric and Biochemical Characteristics of Polycystic Ovarian Syndrome in South Indian Women Using AES-2006 Criteria.

Background: Polycystic ovarian syndrome (PCOS) is one of the most common endocrine conditions affecting women of reproductive age with a prevalence of approximately 5-10% worldwide. PCOS can be viewed as a heterogeneous androgen excess disorder with varying degrees of reproductive and metabolic abnormalities, whose diagnosis is based on anthropometric, biochemical and radiological abnormalities. To our knowledge, this is the first study investigating the anthropometric, biochemical and ultrasonographic characteristics of PCOS in Asian Indians of South India, using the Androgen Excess Society (AES-2006) diagnostic criteria.

Angiotensin-converting enzyme gene insertion/deletion polymorphism studies in Asian Indian pregnant women biochemically identifies gestational diabetes mellitus.

Introduction: Gestational diabetes mellitus (GDM) is defined as glucose intolerance first recognized during pregnancy. Insertion/deletion (I/D) polymorphism of a 287 bp Alu repetitive sequence in intron 16 of the angiotensin-converting enzyme (ACE) gene has been widely investigated in Asian Indian populations with different ethnic origins. The present study examined possible association between I/D polymorphism of the ACE gene and GDM in Asian Indian pregnant women.

Role of Human papilloma virus infection and altered methylation of specific genes in esophageal cancer.

Background: Evaluation of Human papilloma virus (HPV) and its association with promoter methylation of candidate genes, p53 and Aurora A in esophageal cancer.

Materials And Methods: One hundred forty-one esophageal tissue samples from different pathologies were evaluated for HPV infection by PCR, while the promoter methylation status of p53 and Aurora A was assessed by methylation-specific restriction based PCR assay. Statistical analyses were performed with MedCalc and MDR software.

Her-2/neu status: a neglected marker of prognostication and management of breast cancer patients in India.

Background: Categorizing breast tumors based on the ER, PR and HER/Neu 2 receptor status is necessary in order to predict outcome and assist in management of breast cancer. Herfe we assessed this question in South Indian patients.

Materials And Methods: A total of 619 formalin fixed paraffin embedded breast tumor tissues were collected from pathology archives after receipt of ethical clearance.

No evidence for the role of somatic mutations and promoter hypermethylation of FH gene in the tumorigenesis of nonsyndromic uterine leiomyomas.

Fumarate hydratase (FH) gene is reported to have specific involvement in syndromic uterine tumors, but its role in nonsyndromic forms is still unclear. Hence, the present study has aimed to screen the role of promoter methylation status and mutations in exon 2 and 7 regions of FH gene in the genesis of nonsyndromic uterine leiomyomas. Leiomyoma and myometrium tissues were collected from 85 hysterectomized uterine specimens.

Enhanced transcription of estrogen receptor α and mitochondrial cytochrome b genes in uterine leiomyomas.

The relative expression levels of estrogen receptor α (ERα) and mitochondrial cytochrome b (MTCYB) transcripts and their association with ERα, -397T > C gene polymorphism was determined in premenopausal uterine leiomyomas and myometrium tissues to gain an insight into the role of ER-mediated action of estrogen on mitochondrial gene transcription. Both ERα and MTCYB transcripts were overexpressed in leiomyomas compared with myometrium tissues with 9.18 ± 0.

Detection of somatic mutations and germline polymorphisms in mitochondrial DNA of uterine fibroids patients.

To identify the role of mitochondrial DNA (mtDNA) mutations in uterine fibroids patients, genomic DNA isolated from paired myometrium and fibroid tissues was screened for mutations. The present study represents the first investigation to report that 10.4% of uterine fibroids cases had either mtDNA mutations or polymorphisms or both.

Molecular pathogenesis of endometriosis; Toll-like receptor-4 A896G (D299G) polymorphism: a novel explanation.

Background: Endometriosis is a distressing gynecological disorder. Toll-like receptor 4 (TLR4) is specific for recognition of the molecular pattern of gram-negative bacteria. TLR4 is present on the surface of endometrial cells.