Gender-specific association of MSA2756G with hypertension in patients attending a health facility in Ningxia Province, China

Purpose: To investigate the distribution of methionine synthase A2756G (MSA2756G) in the hypertensive patients in northwest Chinese population. Methods: A total of 378 unrelated hypertensive patients attending Ningxia Peoples Hospital, Ningxia Province, China, were recruited for this study. We analyzed genotype by amplication - created restriction sites (ACRS) and polymerase chain reaction - restrict fragment length polymorphism (PCR - RFLP) in hypertensive patients, and inspected the relation of the genotype with hypertension by χ2 and t test. Results: The frequency of G allele was 10.25 % in the control group and 14.04 % in hypertension group; it was not statistically different (p > 0.05). In the male group, the frequency of allele G was 11.50 % in control group, and 8.79 % in hypertension group. There was no significant difference between control and hypertension groups (p > 0.05). In the female group, the frequency of allele G was 9.00 %, in control and 19.54 % in hypertension group (p < 0.05), while in the hypertension group, allele G was 8.79 % in males which is significantly lower (p < 0.05) than in females (19.54 %) . Conclusion: Allele G of MSA2756G is a risk factor for hypertension in female in this Chinese population of this study.

The association of depression status with menopause symptoms among rural midlife women in China.

Objective: This study aims to evaluate the association of depression with menopausal status and some menopause symptoms (vasomotor symptoms and poor sleep). Methods: A total of 743 participants aged 40-60 years were recruited. Depression status was evaluated by using Self-Rating Depression Scale (SDS). Sleep quality and vasomotor symptoms were evaluated by specific symptoms questionnaire. Results: The prevalence of depression among participants was 11.4%. Depression was found more likely to occur in participants with poor sleep (OR, 6.02; 95%CI, 3.61, 10.03) or with vasomotor symptoms (VMS) (OR, 2.03; 95%CI, 1.20, 3.44) after controlling for age, education level, marital status, menopause status, monthly family income and chronic diseases. Menopause status was not associated with depression. Stratification analysis showed a significant association between poor sleep and depression across different menopause stages, while VMS were associated with depression only in premenopausal status. Conclusion: The majority of Chinese rural midlife women do not experience depression. The relationship between depression, VMS and sleep disturbances tends to change with menopausal status in Chinese rural midlife women.

ASSOCIATION OF BIRTH WEIGHT AND TIME OF BREASTFEEDING WITH CURRENT NUTRITIONAL STATUS OF CHILDREN

Objetivo: Analisar a relação entre o peso ao nascer (PN) e o tempo de aleitamento materno (AM) com o atual estado nutricional de crianças de dois a seis anos de idade. Métodos: Estudo observacional, quantitativo e do tipo transversal, realizado com crianças, independentemente do sexo, com idades entre dois a seis anos, matriculadas em sete escolas de educação infantil da rede municipal de um município do interior do Rio Grande do Sul (RS), no período de junho a agosto de 2014. Participaram 353 crianças, aferindo-se peso e altura, após os pais terem respondido a um questionário de Peso ao Nascer (PN) e tempo de aleitamento materno. Resultados: A média de aleitamento materno exclusivo foi de 3,47 ± 2,81 meses. A maioria das crianças (50,7%, n=179) encontrou-se em risco de sobrepeso ou sobrepeso para a idade, conforme o Índice de Massa Corporal (IMC). O PN apresentou correlação positiva com a altura atual (r=0,164, p=0,002) e com o peso atual (r=0,180, p=0,001). O PN foi significativamente maior entre os meninos (p=0,003), e o tempo de AM associado à alimentação complementar foi significativamente maior entre as meninas (p=0,024). Conclusão: Os resultados sugerem que o peso ao nascer influencia o ganho de peso nos seis primeiros anos de vida, com maior destaque para os meninos; e o tempo de amamentação associado à alimentação complementar foi maior entre as meninas.

Association of interleukin 17 / angiotensin II with refractory hypertension risk in hemodialysis patients.

Objective: The study was performed to investigate the association of interleukin 17 (IL 17) or angiotensin II (Ang II) with refractory hypertension risk in hemodialysis patients. Methods: Ninety hemodialysis patients were enrolled into this study, and those with hypertension were divided into two groups. The Easy-to-Control Hypertension group (ECHG) had fifty patients, while the refractory hypertension group (RHG) had forty patients. Twenty healthy individuals were recruited as the control group. IL17 and Ang II were determined using a human IL 17 / Ang II enzyme-linked immunosorbent assay kit. Serum IL 17 and Ang II concentrations in RHG patients were higher than those in ECHG patients. Results: Serum IL 17 and Ang II concentrations in both patient groups were higher than those in the control group. Linear regression analysis showed a positive correlation between IL 17 and Ang II. In multivariate regression analysis, we found that IL17 and Ang II were associated with refractory hypertension risk in hemodialysis patients. Conclusion: IL17 and Ang II were associated with refractory hypertension risk in hemodialysis patients. There was also a positive correlation between IL 17and Ang II.

Association of the solute carrier family 11 member 1 gene polymorphisms with susceptibility to leprosy in a Brazilian sample

Natural resistance-associated macrophage protein 1/solute carrier family 11 member 1 gene (Nramp1/Slc11a1) is a gene that controls the susceptibility of inbred mice to intracellular pathogens. Polymorphisms in the human Slc11a1/Nramp1 gene have been associated with host susceptibility to leprosy. This study has evaluated nine polymorphisms of the Slc11a1/Nramp1 gene [(GT)n, 274C/T, 469+14G/C, 577-18G/A, 823C/T, 1029 C/T, 1465-85G/A, 1703G/A, and 1729+55del4] in 86 leprosy patients (67 and 19 patients had the multibacillary and the paucibacillary clinical forms of the disease, respectively), and 239 healthy controls matched by age, gender, and ethnicity. The frequency of allele 2 of the (GT)n polymorphism was higher in leprosy patients [p = 0.04, odds ratio (OR) = 1.49], whereas the frequency of allele 3 was higher in the control group (p = 0.03; OR = 0.66). Patients carrying the 274T allele (p = 0.04; OR = 1.49) and TT homozygosis (p = 0.02; OR = 2.46), such as the 469+14C allele (p = 0.03; OR = 1.53) of the 274C/T and 469+14G/C polymorphisms, respectively, were more frequent in the leprosy group. The leprosy and control groups had similar frequency of the 577-18G/A, 823C/T, 1029C/T, 1465-85G/A, 1703G/A, and 1729+55del4 polymorphisms. The 274C/T polymorphism in exon 3 and the 469+14G/C polymorphism in intron 4 were associated with susceptibility to leprosy, while the allele 2 and 3 of the (GT)n polymorphism in the promoter region were associated with susceptibility and protection to leprosy, respectively.

Association of human papillomavirus and Chlamydia trachomatis with intraepithelial alterations in cervix samples

The influence of different infectious agents and their association with human papillomavirus (HPV) in cervical carcinogenesis have not been completely elucidated. This study describes the association between cytological changes in cervical epithelium and the detection of the most relevant aetiological agents of sexually transmitted diseases. Samples collected from 169 patients were evaluated by conventional cytology followed by molecular analysis to detect HPV DNA, Chlamydia trachomatis , herpes simplex virus 1 and 2, Neisseria gonorrhoeae , Mycoplasma genitalium , Trichomonas vaginalis, and Treponema pallidum , besides genotyping for most common high-risk HPV. An association between cytological lesions and different behavioural habits such as smoking and sedentariness was observed. Intraepithelial lesions were also associated with HPV and C. trachomatis detection. An association was also found between both simple and multiple genotype infection and cytological changes. The investigation of HPV and C. trachomatis proved its importance and may be considered in the future for including in screening programs, since these factors are linked to the early diagnosis of patients with precursor lesions of cervical cancer.

Association of TNF-α Gene Variants With Clinical Manifestation of Cystic Fibrosis Patients of Iranian Azeri Turkish Ethnicity

Background: Cystic fibrosis (CF), a life-limiting autosomal recessive disorder, is considered a monogenic disease that is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. According to several studies, mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene alone is insufficient to predict the phenotypic manifestations observed in cystic fibrosis (CF) patients. In addition, some patients with a milder CF phenotype do not carry any pathogenic mutation. Tumor Necrosis Factor-alpha (TNF-α) contributes to the pathophysiology of CF by causing cachexia. There is a reverse association between TNF-α concentration in patient's sputum and their pulmonary function. Objectives: To assess the effect of non-CFTR genes on the clinical phenotype of CF, two polymorphic sites (-1031T/C and -308G/A) of the TNF-α gene, as a modifier, were studied. Patients and Methods: Focusing on the lung and gastrointestinal involvement as well as the poor growth, we first investigated the role of TNF-α gene in the clinical manifestation of CF. Furthermore, based on the hypothesis that the cumulative effect of specific alleles of multiple CF modifier genes, such as TNF-α, may create the final phenotype, we also investigated the potential role of TNF-α in non-classic CF patients without a known pathogenic mutation. In all, 80 CF patients and 157 healthy control subjects of Azeri Turkish ethnicity were studied by the PCR–RFLP method. The chi-square test with Yates' correction and Fisher's exact test were used for statistical analysis. Results: The allele and genotype distribution of the investigated polymorphisms, and their associated haplotypes were similar in all groups. Conclusions: There was no evidence that supported the association of TNF-α gene polymorphisms with non-classic CF disease or the clinical presentation of classic CF.

Association of Celiac Disease With Idiopathic Pulmonary Hemosiderosis; Lane Hamilton Syndrome

Introduction: Idiopathic Pulmonary Hemosiderosis (IPH) is a rare cause of alveolar hemorrhage, which is seen primarily in childhood. Celiac disease is defined as a chronic, immune-mediated enteropathy of the small intestine, caused by exposure to dietary gluten in genetically pre-disposed individuals. Association of IPH and celiac disease is known as Lane Hamilton syndrome. There are limited number of case reports of this syndrome in literature. Case Presentation: Although there were no growth and developmental delay and gastrointestinal symptoms like chronic diarrhea, chronic constipation, vomiting, abdominal bloating and pain in the two patients with IPH, they were diagnosed with Lane Hamilton Syndrome. After initiation of gluten-free diet, their IPH symptoms disappeared and hemoglobin levels were observed to return to normal. Conclusions: Even if there were no gastrointestinal symptoms in a patient with IPH, celiac disease should be investigated. These patients may benefit from gluten free diet and IPH symptoms may disappear.

Association of follicle stimulating hormone receptor promoter with ovarian response in IVF-ET patients

Background: Poor ovarian response phenomenon has been observed in some of the in vitro fertilization-embryo transfer patients. Some investigations found that follicle stimulating hormone receptor (FSHR) gene plays a role in the process, but no direct evidence shows the correlation between genotypes of FSHR and ovarian response. Objective: Exploring the molecular mechanism behind the mutation of FSHR promoter association with ovarian granulosa cells and poor ovarian response. Materials and Methods: This cross sectional study was performed using 158 women undergoing the controlled short program ovarian stimulation for IVF treatment. The 263 bp DNA fragments before the follicle stimulating hormone (FSH) receptor 5' initiation site were sequenced in the patients under IVF cycle, 70 of which had poor ovarian response and 88 showed normal ovarian responses. Results: With a mutation rate of 40%, 63 in 158 cases showed a 29th site G→A point mutation; among the mutated cases, the mutation rate of the poor ovarian responders was significantly higher than the normal group (60% versus 23.9%; χ2=21.450, p<0.001). Besides, the variability was also obvious in antral follicle count, and ovum pick-ups. The estradiol peak values and the number of mature eggs between the two groups had significant difference. However, there was no obvious variability (t=0.457, p=0.324) in the basic FSH values between the two groups (normal group, 7.2±2.3 U/L; mutation group, 7.1±2.0 U/L). Conclusion: The activity of FSHR promoter is significantly affected by the 29th site G→A mutation that will weaken promoter activity and result in poor response to FSH.

Association of kinase insert domain-containing receptor (KDR) gene polymorphism/ haplotypes with recurrent spontaneous abortion and genetic structure

Background: Recurrent spontaneous abortion is one of the diseases that can lead to physical, psychological, and, economical problems for both individuals and society. Recently a few numbers of genetic polymorphisms in kinase insert domain-containing receptor (KDR) gene are examined that can endanger the life of the fetus in pregnant women. Objective: The risk of KDR gene polymorphisms was investigated in Iranian women with idiopathic recurrent spontaneous abortion (RSA). Materials and Methods: A case controlled study was performed. One hundred idiopathic recurrent spontaneous abortion patients with at least two consecutive pregnancy losses before 20 weeks of gestational age with normal karyotypes were included in the study. Also, 100 healthy women with at least one natural pregnancy were studied as control group. Two functional SNPs located in KDR gene; rs1870377 (Q472H), and rs2305948 (V297I) as well as one tag SNP in the intron region (rs6838752) were genotyped by using PCR based restriction fragment length polymorphism (PCR-RFLP) technique. Haplotype frequency was determined for these three SNPs’ genotypes. Analysis of genetic STRUCTURE and K means clustering were performed to study genetic variation. Results: Functional SNP (rs1870377) was highly linked to tag SNP (rs6838752) (D´ value=0. 214; χ2 = 16.44, p<0. 001). K means clustering showed that k = 8 as the best fit for the optimal number of genetic subgroups in our studied materials. This result was in agreement with Neighbor Joining cluster analysis. Conclusion: In our study, the allele and genotype frequencies were not associated with RSA between patient and control individuals. Inconsistent results in different populations with different allele frequencies among RSA patients and controls may be due to ethnic variation and used sample size.

Association of vitamin D receptor gene variants with polycystic ovary syndrome: A case control study

Background: Vitamin D and insulin play an important role in susceptibility to polycystic ovary syndrome (PCOS), and therefore vitamin D receptor (VDR), parathyroid hormone (PTH), and insulin receptor (INSR) gene variants might be involved in the pathogenesis of PCOS. Objective: The present study was designed to investigate the possible associations between polymorphisms in VDR, PTH, and INSR genes and the risk of PCOS. Materials and Methods: VDR, PTH, and INSR gene variants were genotyped in 35 women with PCOS and 35 controls using Polymerase chain reaction – Restriction fragment length polymorphism method. Furthermore, serum levels of glucose and insulin were measured in all participants. Results: No significant differences were observed for the VDR FokI, VDR Tru9I, VDR TaqI,, PTH DraII, INSR NsiI, and INSR PmlI gene polymorphisms between the women with PCOS and controls. However, after adjustment for confounding factors, the VDR BsmI “Bb” genotype and the VDR ApaI "Aa" genotype were significantly under transmitted to the patients (p= 0.016; OR= 0.250; 95% CI= 0.081-0.769, and p= 0.017; OR= 0.260; 95% CI= 0.086-0.788, respectively). Furthermore, in the women with PCOS, insulin levels were lower in the participants with the INSR NsiI "NN" genotype compared with those with the "Nn + nn" genotypes (P= 0.045). Conclusion: The results showed an association between the VDR gene BsmI and ApaI polymorphisms and PCOS risk. These data also indicated that the INSR "NN" genotype was a marker of decreased insulin in women with PCOS. Our findings, however, do not lend support to the hypothesis that PTH gene DraII variant plays a role in susceptibility to PCOS.

Association of type of birth attendant and place of delivery on infant mortality in sub-Saharan Africa.

Objective: To examine the association between type of birth attendant and place of delivery, and infant mortality (IM). Methods: This cross-sectional study used self-reported data from the Demographic Health Surveys for women in Ghana, Kenya, and Sierra Leone. Logistic regression estimated odds ratios (ORs) and95% confidence intervals. Results: In Ghana and Sierra Leone, odds of IM were higher for women who delivered at a health facility versus women who delivered at a household residence (OR=3.18, 95% confidence interval, CI: 1.29-7.83, p=0.01 and OR=1.62, 95% CI: 1.15-2.28, p=0.01, respectively). Compared to the use of health professionals, the use of birth attendants for assistance with delivery was not significantly associated with IM for women in Ghana or Sierra Leone (OR=2.17, 95% CI: 0.83-5.69, p=0.12 and OR=1.25, 95% CI: 0.92-1.70, p=0.15, respectively). In Kenya, odds of IM, though nonsignificant, were lower for women who used birth attendants than those who used health professionals to assist with delivery (OR=0.85, 95% CI: 0.51-1.41, p=0.46), and higher with delivery at a health facility versus a household residence (OR=1.29, 95% CI: 0.81-2.03, p=0.28). Conclusions: Women in Ghana and Sierra Leone who delivered at a health facility had statistically significant increased odds of IM. Birth attendant type-IM associations were not statistically significant.Future research should consider culturally-sensitive interventions to improve maternal health and help reduce IM.

Association of ABO blood group and Plasmodium falciparum malaria among Children in the Federal Capital Territory, Nigeria

The ABO and Rhesus blood group systems are very important clinical tools that are commonly used in blood transfusion and their associations with various disease conditions have been widely reported. This study investigated the distribution of these blood group systems and assessed the association of malaria infection with the ABO blood groups among children in Federal Capital Territory, Abuja. Blood specimens from deep finger pricks of 730 children aged between 0-2 years were examined for malaria parasites using Field stains method. ABO and Rhesus blood group antigens tests were also performed using standard tile protocols. Of all the children admitted into the study, 445 were sick while 285 were apparently healthy. The prevalence of malaria parasites was significantly higher (P = 0.00047) among the sick children (69.8%) than the apparently healthy children (30.2%). The most prevalent blood group was O (55.7%) and the Rhesus D antigen was positive for 98.4% of all the children. The prevalence of blood group B among the sick children was significantly lower (P = 0.00373) than the other blood group types. There is no association between malaria infection and ABO blood groups but the prevalence of higher malaria parasite density was significantly greater (P = 0.0404) in children with blood group A (7.7%). In conclusion, blood group O was the most prevalent blood group in the study and children with blood group A appeared to be more susceptible to higher level of malaria parasitemia.

Factors contributing to defaulting scheduled therapy sessions by caregivers of children with congenital disabilities

Background Defaulting scheduled rehabilitation therapy may result in increased adverse outcomes such as permanent disability and increased healthcare costs. Concomitantly, there is evidence to suggest that early and continued rehabilitation of children with congenital disabilities can improve outcomes significantly. This study was conducted to determine factors contributing to caregivers’ defaulting scheduled rehabilitation therapy sessions. Methods A descriptive cross sectional study was carried out at Chitungwiza Central Hospital, a tertiary facility offering in and outpatient rehabilitation services in Zimbabwe. Caregivers of children who had congenital disabilities (N=40) and who had a history of defaulting treatment but were available during the data collection period responded to an interviewer administered questionnaire. Data were analysed for means and frequencies using STATA 13. Results Factors that contributed to caregivers defaulting scheduled therapy included economic constraints (52%), child related factors (43%), caregiver related factors (42%), service centred factors (30%) and psychosocial factors (58%). Majority of the caregivers (98%) were motivated to attend therapy by observable improvements in their children. Other motivators were incentives given in the rehabilitation department (45%), availability of rehabilitation personnel to provide the required services (48%) and psychosocial support from fellow caregivers, families and the rehabilitation staff (68%). Although all the caregivers could not distinguish occupational therapy from physiotherapy services they all reported that therapy was important. Conclusions A combination of psychosocial, economic, child centred and service centred factors contributed to caregivers defaulting scheduled therapy. Interventions that may potentially improve caregiver attendance to scheduled therapy include community outreach services, efficient rehabilitation service provision at the hospitals, and facilitation of income generating programmes for caregivers.

A review of patients with advanced cervical cancer presenting to palliative care services at Queen Elizabeth Central Hospital in Blantyre, Malawi

Background Cervical cancer is the commonest cancer affecting women in Malawi, which has the highest rate of this disease in the world. Most cases are diagnosed at an advanced stage. Aim To describe the symptom burden, palliative care interventions, and outcomes of cervical cancer patients who entered care at Tiyanjane Clinic in Blantyre, Malawi, between January and December 2012. Methods We reviewed the case files of 72 patients presenting to our hospital-based palliative care service over one year. Results The mean age was 49.5 years. Twenty-six patients (36%) were HIVpositive and the majority of these (n = 22; 85%) were on antiretroviral medication at presentation to palliative care. Pain (n = 66; 92%), vaginal discharge (n = 44; 61%), and unpleasant odour (n = 37; 51%) were commonly reported. Over a third of patients (n = 26; 36%) reported pain in two or more sites. Fourteen patients (19%) reported vaginal bleeding. Spousal breakdown (through widowhood or divorce) was noted in over half (n = 41; 57%) of all cases. Pain relief was provided to 69 (96%) of the patients (morphine to 40 patients; 56%). Common interventions provided included metronidazole tablets (used vaginally), sanitary items, and counselling. At the end of the study period, 18 patients (25%) were still under the care of palliative services. Conclusions Access to medications such as morphine, metronidazole and tranexamic acid can improve quality of life, even when radiotherapy is limited. Health care teams require necessary skills and training, including how to perform a comprehensive assessment, with an emphasis on the provision of psychosexual counselling, to assist with the complexity of symptoms occurring in this vulnerable group.