Diagnosis of myocardial infarction or acute coronary syndrome is difficult, especially in atypical presentation at an emergency department, and sometimes results in serious legal issues. Symptoms of atypical presentation include shortness of breath, dyspnoea on exertion, toothache, abdominal pain, back pain and throat pain. As of now, reports of a headache, especially exertional headache, as the only presentation of acute cardiac ischaemia are rare and only have case reports. We present two patients with a cardiac source of headache and analyse 32 patients with similar situations from MEDLINE search from 1966 to the present. Cardiac cephalalgia is benign in general, but potential risks for death should be considered. If the patient has increased risk of atherosclerosis with exertional headache, anginal headache should be highly suspected and further work-up should be undertaken.
ABSTRACT. Two single nucleotide polymorphisms (SNPs; TaqI and ApaI) in the vitamin D receptor (VDR) gene have been identified as risk factors for the progression of end-stage renal disease (ESRD). The purpose of our study was to confirm the reported association of these two SNPs with ESRD risk and progression of renal osteodystrophy in a Chinese Han population. A total of 452 ESRD patients and 904 matched-pair controls (based on age, gender, and body mass index) were included. Identification of VDR gene polymorphisms was performed using the polymerase chain reaction-restriction fragment length polymorphism method with TaqI and ApaI restriction enzymes. There was no association of the TaqI polymorphism with ESRD risk. However, significant associations were seen between ApaI (rs7975232) polymorphism and ESRD risk in the heterozygote model (AC/ AA; P = 0.002; OR = 1.4, 95%CI = 1.14-1.83), homozygote model (CC/AA; P = 0.007; OR = 1.8, 95%CI = 1.17-2.85) genotypes for rs7975232, allelic model (P < 0.001; OR = 1.4, 95%CI = 1.15-1.64), dominant model (P = 0.001; OR = 1.5, 95%CI = 1.19-1.87), and recessive model (P = 0.046; OR = 0.6, 95%CI = 0.42-1.00) between cases and healthy controls Moreover, we found a significant correlation between the genotype and allele distribution of ApaI and intact parathyroid hormone (iPTH) levels, where allele C carriers have increased iPTH levels. The ApaI polymorphism in the VDR gene appears to be a susceptibility locus for ESRD in Chinese individuals, and allele C carriers may have an increased risk of high-turnover renal osteodystrophy.
ABSTRACT. This study aimed to investigate the correlation of CYP1A1 and GSTM1 gene polymorphisms and environmental factors to familial aggregation of esophageal cancer (EC) among the Kazakh ethnic group in Xinjiang. CYP1A1 and GSTM1 gene polymorphisms were detected using peripheral blood from 86 subjects belonging to families with EC and 82 control subjects. Additionally, a questionnaire survey was conducted to ascertain environmental risk factors. Combined effects of CYP1A1 and GSTM1 gene polymorphisms and environmental factors in familial aggregation of EC were evaluated. Distribution frequencies of CYP1A1 MspI and GSTM1 genotypes between EC and control families showed significant differences (P = 0.002, P = 0.001). Contribution of interaction between CYP1A1 MspI mutant and GSTM1 deletion polymorphisms to familial aggregation of EC was significant, with OR = 3.571 (95%CI = 1.738-3.346). Logistic multivariate analysis indicated that familial aggregation of EC is correlated with 3 factors: drinking water, intake of fresh vegetables and fruits, and CYP1A1 MspI polymorphism (P = 0.005, P = 0.013, and In conclusion, CYP1A1 and GSTM1 gene polymorphisms affect familial aggregation of EC among the Kazakh ethnic group in Xinjiang. River water intake and CYP1A1 MspI polymorphism were risk factors that likely contributed to high incidence of EC among families.
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