A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome.

Introduction: Alport syndrome (AS) is an inherited, rare, progressive kidney disease that affects the eye and ear physiology. Pathogenic variants of COL4A5 account for 85% of all cases, while COL4A3 and COL4A4 account for the remaining 15%. Methods: Targeted next-generation sequencing of the COL4A3, COL4A4, and COL4A5 genes was performed in 125 Turkish patients with AS. The patients were compared to 45 controls and open-access population data. Results: The incidence of AS variants in patients was found as 21.6%. 27 variants were identified as pathogenic/likely pathogenic, 28 as variant of uncertain significance, and 52 as benign/likely benign. We also found 31 novel variants (14 in COL4A3, 6 in COL4A4, and 11 in COL4A5) of which 27 were classified as pathogenic/likely pathogenic. Pathogenic/likely Pathogenic variants were most commonly found in the COL4A5 gene, consistent with the literature. This study contributed novel variants associated with AS to the literature. Conclusion: Genetic testing is a crucial part for the diagnosis and management of AS. Studies on the genetic etiology of AS are limited for the Turkish population. We believe that this study will contribute to the literature and the clinical decision-making process of patients with AS and emphasize the importance of genetic counseling.

Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome.

OBJECTIVE: Chronic kidney disease (CKD) remains one of the major common health problems, and the number of people affected by the disease is progressively increasing in Turkey and worldwide. This study aimed to investigate molecular defects in Alport syndrome (AS) and other genes in patients with clinically suspected CKD using whole-exome sequencing (WES). METHODS: Patients with clinical suspicion of CKD were included in the study. Molecular genetic analyses were performed on genomic DNA by using WES. RESULTS: A total of 15 with 5 different pathogenic or likely pathogenic variants were identified in CKD patients, with a diagnostic rate of 30%. Eight variants of uncertain significance were also detected. In this study, 10 variants were described for the first time. As a result, we detected variants associated with CKD in our study population and found AS as the most common CKD after other related kidney diseases. CONCLUSIONS: Our results suggest that in heterogeneous diseases such as CKD, WES analysis enables accurate identification of underlying molecular defects promptly. Although CKD accounts for 10-14% of all renal dysfunction, molecular genetic diagnosis is necessary for optimal long-term treatment, prognosis, and effective genetic counseling. .

Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome

SUMMARY OBJECTIVE: Chronic kidney disease (CKD) remains one of the major common health problems, and the number of people affected by the disease is progressively increasing in Turkey and worldwide. This study aimed to investigate molecular defects in Alport syndrome (AS) and other genes in patients with clinically suspected CKD using whole-exome sequencing (WES). METHODS: Patients with clinical suspicion of CKD were included in the study. Molecular genetic analyses were performed on genomic DNA by using WES. RESULTS: A total of 15 with 5 different pathogenic or likely pathogenic variants were identified in CKD patients, with a diagnostic rate of 30%. Eight variants of uncertain significance were also detected. In this study, 10 variants were described for the first time. As a result, we detected variants associated with CKD in our study population and found AS as the most common CKD after other related kidney diseases. CONCLUSIONS: Our results suggest that in heterogeneous diseases such as CKD, WES analysis enables accurate identification of underlying molecular defects promptly. Although CKD accounts for 10-14% of all renal dysfunction, molecular genetic diagnosis is necessary for optimal long-term treatment, prognosis, and effective genetic counseling.

Exposure of married women to spousal violence: A community-based study in Eastern Turkey.

BACKGROUND: Violence against women deprives women of their rights to enjoy equality, security, dignity, self-worth and fundamental freedoms and devalues them; is one of the most significant social facts that force women to exist at a lower social level than men and constitute a significant obstacle to the formation of healthy societies. This study was conducted to determine the status of exposure to spousal violence of 15 years and older married women living in the city center. METHODS: Family health centers in Elazig Province were visited and 792 married women were selected from the related records by systematic sampling. As a data collection tool, a questionnaire form was used. The questionnaire consists of two parts. In the first part, participants were asked about demographic characteristics such as age, gender, education level, and profession, while in the second part, questions were asked to determine the extent of exposure to violence. Questionnaires were filled out using interview technique by making home visits. RESULTS: It has been found that the low level of education of the wife and her spouse, perception of the economic situation of the family as being bad, and the fact that the woman does not work in an income-generating business can be an important factor in exposing to both physical violence and economic violence by her husband. CONCLUSION: Conclusion: Rate of exposure to spousal violence is high in married women living in the city center of Elazig Province. Education and services should be provided for solving the problem at individual, familial, and social levels.

Social gender and nursing in Turkey: A qualitative research.

Although the Turkish women have a much better position in terms of jobs and education, they still assume the roles expected by the society, despite all the changes that have taken place in today's Turkey, which continues to have a patriarchal society structure. Working did not change women's roles of homemaking and motherhood in the family; instead, their burden in social life has increased. Nursing in Turkey has been regarded as a women's profession for many years and has only been performed by women until the last decade. In this regard, this study discusses the roles of women within the context of social gender in Turkish society, being a working woman, how nurses position themselves within the community and health care team and how they see themselves through this fact. In this qualitative study, in-depth interview technique was used. Data were collected and interpreted by interviewing nurses of various age, education level and professional experience.

Chemical, biological and molecular modelling analyses to probe into the pharmacological potential of Antidesma madagascariense Lam.: A multifunctional agent for developing novel therapeutic formulations.

Antidesma madagascariense Lam. (AM), an indigenous medicinal plant to the Mascarene Islands, is used for the treatment of several diseases. We endeavoured to validate its use via evaluating the kinetics of inhibition of crude aqueous extract (CAE) and crude methanol extract (CME) of AM against key metabolic enzymes (pancreatic lipase, cholesterol esterase [CEase], acetylcholinesterase [AChE], and urease). In vitro antiglycation, antioxidant, cytotoxicity using iCELLigence real time cell analysis system and WST-1 methods, were used. LC-ESI-MS/MS was employed to determine the phenolic composition of the extracts and interaction of selected compounds to the studied enzymes was determined using in silico docking. AChE was inhibited by the CME of AM and CEase by the CAE. Both extracts were active inhibitors of urease and pancreatic lipase. Hyperoside (271.97 µg/g extract), present in large amount in the CME, docked to the enzymatic pocket of urease and CEase. The extracts showed competitive and mixed inhibition of urease and pancreatic lipase, respectively. The antioxidant capacity of the CME (6.61 µg GAE/mg crude extract) was higher compared to CAE (2.20 µg GAE/mg crude extract). AM extracts were significantly (p < 0.05) less potent than aminoguanidine in preventing advanced glycation end products formation. Toxicological screening revealed that both extracts were non-toxic on HEK-293 cells. AM crude extracts at concentrations ranging from 78 to 312 µg/ml did not cause a visible change in cell morphology compared to control. This study supports the safe use of AM as a biomedicine for the management and/or treatment of common non-communicable diseases.

Identification of the drug-use behaviors of the elderly living in nursing homes.

OBJECTIVE: As our society ages, the incidence of acute and chronic diseases increases, and so does chronic drug use and polypharmacy. This study was intended to examine the medication behaviors of the elderly who lived in the nursing homes in the Elazig and Malatya provinces, located in eastern Turkey, and in the Kayseri province located in Central Anatolia. MATERIALS AND METHODS: The population of this cross-sectional study included people over the age of 60 years (n=310) who lived in the nursing homes in the Elazig, Malatya, and Kayseri provinces. The entire population was included in the research without sampling, of which 255 (82.2%) people participated. Data were collected using a survey form, and the survey was conducted through face-to-face interviews. The data were reported in numbers, percentages, and averages. RESULTS: Of the studied population, 87.8% were treated through polypharmacy, using various drugs. The most commonly used drugs were antihypertensives (52.2%). Females over 60 years used more polypharmacy than men (p<0.05). Of the elderly studied, 97.3% used drugs as recommended, 95.3% did not know about the side effects of the drugs they used, and 93.7% did not read the prospectuses of the drugs. Also, 82.7% stated that their drugs did not have any side effects and 70.2% said that the health care personnel did not educate them about their drugs. Of the elderly who were informed about their drugs, 55.3% obtained the information from the nurse and 44.7% from the physician. Of the elderly, 51.3% received education on the duration they would need to take the drug, 30.3% were educated on the intended use of the drugs, 7.9% received education on their drug dose, and 6.6% were educated on the side effects of the drugs. CONCLUSION: The results of this study showed that the majority of the elderly studied used more than one drug (polypharmacy) and the most used drug group was antihypertensives.