Background and Objective: Uric acid is a neuroprotective agent. However, its relationship with ischaemic stroke remains controversial. We analyzed the association between serum uric acid and ischemic stroke and clinical outcome. Methods: The study subject consisted of 550 ischemic stroke patients from the Nizam’s Institute of Health Sciences, Hyderabad, India with 550 matched healthy controls. Serum uric acid levels were estimated, and follow-up interviews conducted with patients. Results: There was a significant association of elevated levels of serum uric acid with stroke and its subtypes except lacunar stroke. Patients with high serum uric acid levels had a significant increased risk of poor outcome. Conclusion: Serum uric acid level is associated with ischemic stroke, and is an independent prognostic factor of poor outcome.

Male breast cancer (MBC) is a rare and poorly studied disease that is a growing global health problem. Interestingly, both the molecular basis of MBC and its histological profile are often quite distinct from the far more prevalent female breast cancer, emphasizing the need for increased focus on MBC. Here, we present a case report of an MBC patient from India with a strong familial history of breast cancer. This patient was normal for BRCA1/2 and many other common breast cancer-associated genes. However, upon further analysis, the individual was found to possess two mutations in the DNA helicase and tumor suppressor gene BRIP1, including a silent mutation at residue 879 as well as a P919S variant. Other family members were also screened for these mutations. To the best of our knowledge, this is the first report of BRIP1 mutation in MBC in the Indian population.
Breast Neoplasms* ; Breast Neoplasms, Male ; Breast* ; DNA ; Female* ; Genes, Tumor Suppressor ; Global Health ; Humans ; India* ; Male* ; Silent Mutation

INTRODUCTIONRecently, there has been increasing evidence that genetic variation in the angiotensin-converting enzyme (ACE) plays an important role in myocardial infarction. Therefore, the present study was carried out with the aim of investigating the association of the ACE gene insertion/deletion (I /D) polymorphism and its levels in myocardial infarction patients and their first-degree relatives (FDRs).

METHODS206 patients with myocardial infarction, 168 FDRs and 210 control subjects were enrolled in the study. ACE I /D polymorphism was determined using the polymerase chain reaction method. Serum ACE levels were measured using the photometric method.

RESULTSThe DD genotype and ACE activity were significantly higher in patients (p-value is 0.00006 and 0.0001, respectively) and FDRs (p-value is 0.003 and 0.04, respectively) compared with the controls.

CONCLUSIONACE DD genotype and ACE levels are important risk factors for myocardial infarction. This study indicates that the higher frequency of the DD genotype and ACE levels observed in FDRs may increase susceptibility to developing myocardial infarction.

Alleles ; Case-Control Studies ; Chi-Square Distribution ; Confidence Intervals ; Ethnic Groups ; genetics ; Female ; Genetic Predisposition to Disease ; epidemiology ; Genetic Variation ; Genotype ; Humans ; Incidence ; India ; epidemiology ; Male ; Myocardial Infarction ; epidemiology ; genetics ; physiopathology ; Odds Ratio ; Peptidyl-Dipeptidase A ; analysis ; genetics ; Polymorphism, Genetic ; Reference Values