Genotypic variation in CYP2E1, GCKR, and PNPLA3 among nonalcoholic steatohepatitis patients of Turkish origin.

BACKGROUND: This study examines genetic variations in CYP2E1 (rs6413432, rs3813867), GCKR (rs780094, rs1260326), and PNPLA3 (rs738409) among Turkish patients to assess their influence on nonalcoholic steatohepatitis. METHODS: Allele and genotype frequencies were compared between 245 NASH patients and 120 healthy controls using SNP genotyping via polymerase chain reaction-restriction fragment length polymorphism. Additionally, the deviation of the observed genotype frequencies from Hardy-Weinberg proportion was examined. RESULTS: No significant differences were found in the allelic and genotypic distributions of rs6413432, rs3813867, and rs780094 between NASH patients and healthy controls. However, significant disparities were noted for rs1260326 and rs738409. Gender and age-specific distributions showed no notable differences. The only observed deviation from Hardy-Weinberg proportion was in the genotype frequency of rs738409. CONCLUSIONS: Variants in GCKR (rs1260326) and PNPLA3 (rs738409) are significantly associated with increased NASH risk in the Turkish population, with the rs738409 variant potentially playing a more prominent role in NASH development.

Volatile Terpene Profiles of Needle and Phloem Tissues of Healthy and Tomicus destruens-Infested Pinus brutia Trees.

Coniferous trees produce secondary or defense chemicals, such as terpenes, against pest insects. Terpenes could serve as constitutive or induced defensive mechanisms, defending the tree from invasive herbivores. The Mediterranean pine shoot beetle Tomicus destruens colonizes stems and branches of Pinus brutia trees and even can kill mature trees during periodic outbreaks. We investigated whether terpene profiles of needle and stem of P. brutia trees differ between health and those infested by T. destruens. We selected 20 healthy and T. destruens-infested trees and analyzed the monoterpenes and sesquiterpenes of their needles and phloem. We found higher concentrations of tricyclene, camphene and p-cymene in the phloem of infested trees. Similarly, the needles of infested trees had higher concentrations of α-pinene, ß-pinene, myrcene, limonene, trans-ß-caryophyllene and α-humulene than healthy trees. These results show that the monoterpene and sesquiterpene profiles of P. brutia trees differed between healthy and infested trees, suggesting that volatile terpenes may be an important part of plant-induced responses against T. destruens.

Validity and reliability of the Turkish version of the transition of primiparas becoming mothers scale.

BACKGROUND: The transition to motherhood is an important life event in a woman's life and represents an important developmental process that brings physical, psychological and social changes to gain a new role. However, research on the transition to motherhood in Turkish society is scarce. There is a need for a comprehensive, practical and reliable tool to evaluate the transition to motherhood in primiparous mothers. This study evaluated the reliability and validity of the Turkish version of the Transition of Primiparous Becoming Mothers Scale (TMP-S) to evaluate the transition process of primiparous mothers to motherhood. METHODS: This methodological research was carried out in obstetrics and gynecology outpatient clinics, pediatric outpatient clinics, and family health centers of a hospital in Türkiye. The sample consisted of primiparous mothers of 0 to 6- month-old babies who visited clinics and family health centers for routine postnatal examinations (n ​​= 305). After evaluating the language equivalence and content validity of the scale, test-retest reliability, internal consistency and construct validity were examined. Factor analysis, Pearson's correlation, retest reliability, and Cronbach's alpha were employed to evaluate structural validity and reliability. RESULTS: The final TPM-S had two dimensions with 25 items. Exploratory factor analysis revealed a two-factor solution, which accounted for 59.276% of the variance. Confirmatory factor analysis showed that the model fit of the two-factor model also reached a satisfactory model ft after modification. The comparative fit index was 0.894, the Tucker‒Lewis index was 0.882, and the root mean square error of approximation was 0.079. The content validity index of the scale ranged from 0.56 ~ 0.77. The Cronbach's alpha coefficient was 0.93 for the total scale, and the test-retest reliability was 0.96. CONCLUSIONS: It is a valid and reliable tool for evaluating the transition to motherhood among primiparous mothers of 0 to 6 month-old babies in Türkiye. Turkish researchers and healthcare professionals can routinely apply this measurement tool to primiparous mothers in the first six months after birth to evaluate their transition to motherhood.

Adolescence-onset atypical hemolytic uremic syndrome: is it different from infant-onset?

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a rare, mostly complement-mediated thrombotic microangiopathy. The majority of patients are infants. In contrast to infantile-onset aHUS, the clinical and genetic characteristics of adolescence-onset aHUS have not been sufficiently addressed to date. METHODS: A total of 28 patients (21 girls, 7 boys) who were diagnosed as aHUS between the ages of ≥10 years and <18 years were included in this study. All available data in the Turkish Pediatric aHUS registry were collected and analyzed. RESULTS: The mean age at diagnosis was 12.8±2.3 years. Extra-renal involvement was noted in 13 patients (46.4%); neurological involvement was the most common (32%). A total of 21 patients (75%) required kidney replacement therapy. Five patients (17.8%) received only plasma therapy and 23 (82%) of the patients received eculizumab. Hematologic remission and renal remission were achieved in 25 (89.3%) and 17 (60.7%) of the patients, respectively. Compared with the infantile-onset aHUS patients, adolescent patients had a lower complete remission rate during the first episode (p = 0.002). Genetic analyses were performed in all and a genetic variant was detected in 39.3% of the patients. The mean follow-up duration was 4.9±2.6 years. At the last visit, adolescent patients had lower eGFR levels (p = 0.03) and higher rates of chronic kidney disease stage 5 when compared to infantile-onset aHUS patients (p = 0.04). CONCLUSIONS: Adolescence-onset aHUS is a rare disease but tends to cause more permanent renal dysfunction than infantile-onset aHUS. These results may modify the management approaches in these patients.

The genetic structure of the Turkish population reveals high levels of variation and admixture.

The construction of population-based variomes has contributed substantially to our understanding of the genetic basis of human inherited disease. Here, we investigated the genetic structure of Turkey from 3,362 unrelated subjects whose whole exomes (n = 2,589) or whole genomes (n = 773) were sequenced to generate a Turkish (TR) Variome that should serve to facilitate disease gene discovery in Turkey. Consistent with the history of present-day Turkey as a crossroads between Europe and Asia, we found extensive admixture between Balkan, Caucasus, Middle Eastern, and European populations with a closer genetic relationship of the TR population to Europeans than hitherto appreciated. We determined that 50% of TR individuals had high inbreeding coefficients (≥0.0156) with runs of homozygosity longer than 4 Mb being found exclusively in the TR population when compared to 1000 Genomes Project populations. We also found that 28% of exome and 49% of genome variants in the very rare range (allele frequency < 0.005) are unique to the modern TR population. We annotated these variants based on their functional consequences to establish a TR Variome containing alleles of potential medical relevance, a repository of homozygous loss-of-function variants and a TR reference panel for genotype imputation using high-quality haplotypes, to facilitate genome-wide association studies. In addition to providing information on the genetic structure of the modern TR population, these data provide an invaluable resource for future studies to identify variants that are associated with specific phenotypes as well as establishing the phenotypic consequences of mutations in specific genes.

Evaluation of the relationship of posterior tibial slope with gender and age in Turkish population with 3 different methods.

BACKGROUND: This study aimed to reveal the posterior tibial slope (PTS) angle with 3 different methods in a large case group in the Turkish population. In addition, the reproducibility of the measurement methods used was questioned while determining the age groups, gender and side relationship of this angle. MATERIALS AND METHODS: In our retrospective study, radiographs of both knees were evaluated in all 610 patients (344 women, 56.4%) aged 25-65 years. PTS angles were measured by a radiologist and an orthopedist using anterior tibial cortex (ATC), posterior tibial cortex (PTC) and proximal tibial anatomical axis (PTAA) methods. The relationship of these angles with age group and gender, and the intra-class and inter-class correlations of all three methods were evaluated. RESULTS: The mean and standard deviation (SD) of PTS angle was 11.03 ± 2.33° with ATC method, 6.25 ± 2.22° with PTC and 8.68 ± 2.16° with PTAA, and the difference was significant (p < .001). In the evaluation according to age groups, the highest mean PTS angles were detected in cases aged 25-35 (9.63 ± 1.97° [mean ± SD] by PTAA method), and there was a significant difference in comparison with other age groups (p < .05). In comparison with age groups, higher mean PTS angles were found in women and on the right side, but the difference was not statistically significant (p > .05). The intraclass and interclass correlation coefficient (ICC) of all three methods was excellent (ICC > 0.91). CONCLUSION: This study emphasizes that the mean PTS angle in Turkish population is higher than the angle values ​​recommended by prosthesis manufacturers, and factors such as patient age and gender should be calculated in order to ensure more effective prostheses to be applied to patients.

Beyond dichotomies: contesting cultural stereotypes through the lived experience of sexuality among Turkish-Dutch women.

This article offers a critique of the dominant secular/sexual paradigm in the Netherlands by focusing on everyday experiences of sexuality among Turkish-Dutch women. A secular approach towards sexuality rests on the fictive duality of a sexually liberated, progressive majority Dutch and a conservative cultural 'Other'. This paper argues that despite scholarly work challenging the secular/framework within which minoritised women's sexuality is problematised, cultural stereotypes continue to persist in Dutch populist discourse and everyday life. Based on life story interviews conducted with eight women, it illustrates the specific ways in which normative expectations are imposed on minoritised women based on perceived religious or cultural differences. These expectations constitute a 'script' that is imbued with cultural stereotypes. Dissonant moments emerge when my interlocutors fail to conform to the 'script'. In contrast, when their choices validate these expectations, they are interpreted as a reflection of their 'cultural background' instead of being seen as instances of agentic behaviour. These processes further reify dichotomies in the form of sexually liberated and oppressed as the choices these women make are never seen as individual expressions of sexuality unless they openly contest these expectations.

Turkish validity and reliability of the Premenstrual Change Coping Inventory.

OBJECTIVE: This study was conducted to investigate the validity and reliability of the Turkish version of the Premenstrual Change Coping Inventory (PMS-Cope). METHODS: A total of 170 women who met the inclusion criteria were included in the methodological study. Data were collected between the dates of November 5, 2018 and May 5, 2019 with personal information form, PMS-Cope Turkish version, and Premenstrual Syndrome Scale. RESULTS: The PMS-Cope was obtained through the translation-back translation method and the content validity was obtained according to expert opinions. After the factor analysis, the Turkish version of the PMS-Cope consisted of three sub-dimensions as in the original scale. The factor loadings of the three-dimensional scale ranged from 0.46 to 0.84, and the explained variance (60.329%) was at the desired level. As a result of structural equation modeling; ×2/SD values of the scale were found to be 4.19, GFI 0.93, AGFI 0.91, CFI 0.95, RMSEA 0.079, and SRMR 0.082, and this scale was acceptable. The Cronbach alpha coefficient of the PMS-Cope was 0.86. It was determined that item-total score correlations were higher than 0.30 in all items of PMS-Cope and there was no need to remove items from the scale. When the mean scores of the lower 27% and upper 27% of the scale were compared, a statistically significant difference was found between the groups (p < 0.05). The PMS-Cope score was 41.04 ± 8.99. CONCLUSION: It was determined that the Turkish version of the PMS-Cope was a valid and reliable measurement tool.

Validity and reliability study of the Cardiff Fertility Knowledge Scale in Turkish.

AIM: This study aims to determine the Turkish validity and reliability of the Cardiff Fertility Knowledge Scale. METHODS: This methodological research was conducted between April and December 2022 with 302 married individuals at a health center in Kocaeli province, Turkey. Research data were collected using a Personal Information Form and the Cardiff Fertility Knowledge Scale. Content construct and face validity, item analysis, factor analysis, and internal consistency were used to evaluate the data. RESULTS: The content validity index of the scale was found to be 0.97, and the Cronbach's alpha coefficient for the Turkish version was 0.68. The total scores of the top 27% group were significantly higher than the scores of the bottom 27% group (p < 0.01). As a result of the analyses, the final version of the scale consisted of 11 items and had a single factor structure, explaining 44.45% of the scale's variance. CONCLUSION: The results of the study demonstrate that the Turkish version of the Cardiff Fertility Knowledge Scale is a valid and reliable measurement tool that can be used to assess individuals' fertility knowledge.

Coronavirus-related health literacy level of Turkish adults: psychometric properties of the scale.

An adequate level of health literacy enables people to adopt protective behaviors to cope with the COVID-19 pandemic. Validated instruments are desired to assess such reactions. This study aims to determine the level of health literacy and validity and reliability of the Coronavirus-Related Health Literacy Questionnaire (HLS-COVID-Q22) adapted to Turkish. The present study was carried out with 452 participants in Turkey using an online survey. The scale was translated from English to Turkish using the back-translation technique. The cultural adaptation was outlined in the context of establishing the validity and reliability of the instruments. A coronavirus-related health literacy measure was validated (HLS-COVID-Q22) for the Turkish population through exploratory factorial analysis, followed by a confirmatory factorial analysis. The coronavirus-related health literacy level of the participants was found to be 2.92 (±â€…0.51). Cronbach's alpha internal consistency coefficient was found to be 0.95. A four-factor solution was confirmed with eigenvalues > 1.0, suggesting a four-factor solution and explaining 68.84% of the total variance. It was determined that the χ2/df and root mean square residual, root mean square error of approximation and comparative fit index values in the last model had a good fit and that the normed fit index, goodness-of-fit index and adjusted goodness-of-fit index values were acceptable. The coronavirus-related health literacy level of Turkish adults was moderate. HLS-COVID-Q22 was a reliable and valid instrument for measuring coronavirus-related health literacy in the Turkish population. Promoting population-based health literacy and making decisions on accurate and reliable information are important in coping with the epidemic.

Determination of risky sexual behaviors and associated factors of Turkish young women.

Risky sexual behaviors of young women cause significant reproductive health problems. Therefore, it is vital to evaluate the sexual attitude and behavior characteristics of young women, their changes over the years, and the effects of information sources such as family, media, and friends, which play an effective role in bringing about changes in sexual behavior of young women. This study was planned to evaluate young women's premarital sexual behaviors and related factors in Turkiye between 01.11.2021 and 01.05.2022. It is designed as a descriptive correlation study conducted with 1.430 young women studying at universities in 30 metropolitan cities in Turkiye. The study data were collected using the "Participant Information Form" and the "Premarital Risky Sexual Behavior Assessment Scale for Young Women." This study showed that parents' educational status and geographical region was related to the young women's mean score and the subdimension score of the Premarital Sexual Behavior Assessment Scale for Young Women (PSAS-YW) (p < .001). Furthermore, young women's top source of information about sexuality was internet media (80 percent, n = 1144), and the least source was their fathers (2.9 percent, n = 41). There is a relationship between where young women spend most of their lives, the geographical region where their families live, and the risk of sexual behavior. The study observed that the geographical region where young women's parents live was effective in risky sexual behavior. While less risky sexual behavior was observed, primarily in the country's east, this rate increased in the western parts. Furthermore, while it was determined that young people mainly acquire sexual information through the media-internet or friends, it was observed that the participants in this group had the highest rate of risky sexual behavior. The age variable explained only 2 percent of the change in risky sexual behavior, and there was a linear increase between the mother's education level and the risky sexual behavior score of young women.

The psychometric properties of the Turkish version of the parents' perception of satisfaction with care from pediatric nurse practitioners instrument.

AIM: This study was carried out to adapt a measurement tool that can be used to measure the perceived satisfaction level of parents of pediatric patients hospitalized in a pediatric clinic with care from pediatric nurses and to examine its psychometric properties. DESIGN AND METHOD: The study was conducted methodologically with 301 parents of children who were hospitalized in the pediatric clinic of a university hospital between September and December 2023. Explanatory and confirmatory factor analyses were performed on the data to establish the validity of the scale, Cronbach's alpha reliability coefficient, split-half, item-total score methods were utilized to test its reliability. RESULTS: The scale consisted of 26 items and a single dimension. It was determined that the total explained variance ratio was 79.246%. According to the confirmatory factor analysis results, goodness of fit values were determined as RMSEA = 0.077, CFI = 0.96, IFI = 0.97, RFI = 0.92, NFI = 0.93, and TLI = 0.96. Cronbach's alpha coefficient was calculated as α = 0.989 for the total scale. CONCLUSION: The Parents' Perception of Satisfaction with Care from Pediatric Nurse Practitioners Instrument is a valid and reliable measurement tool that can be used to measure the perceived satisfaction level of parents of pediatric patients hospitalized in a pediatric clinic with nursing care. IMPLICATIONS FOR PRACTICE: The scale can contribute to determining the perceived satisfaction levels of parents of pediatric patients hospitalized in the pediatric clinic with nursing care and, if there is a problem, to providing regular in-service training for pediatric nurses who are responsible for pediatric patient safety and quality of care.

Effects of Environment, Social, and Governance (ESG) Disclosures on ESG Scores: Investigating the Role of Corporate Governance for Publicly Traded Turkish Companies.

The world has experienced climate-related issues, which increase the importance of ESG disclosures and corporate governance (CG) of companies, which take place at the heart of economies. Therefore, improving ESG disclosures and CG practices becomes significant to combat climate change at the company level. Considering that Türkiye restructured ESG disclosures in 2022, this study investigates the role of CG on the nexus between ESG scores of publicly traded companies (PTC) and ESG reports. So, the study analyzes 102 PTC (full sample), 51 PTC in Borsa Istanbul Corporate Governance Index (in-sample), and the remaining 51 PTC (out-sample) using ESG disclosures of 2022 and applying novel super learner (SL) algorithm. Our results show that (i) SL has a higher prediction performance reaching ∼94.3%; (ii) the environment (governance) layer has the highest (lowest) total relative importance (contribution) to ESG scores in all samples; (iii) C8, S6, and E5 are the most important ESG principles in the full sample, in-sample, and out-sample, respectively; (iv) the contribution of each ESG principles to the total ESG scores varies by sample; (v) CG plays a smoothing role for the relative importance of each ESG principle, while the relative importance in the out-sample shows much higher volatility. Overall, the study reveals the non-linear contributions of ESG principles on ESG scores and suggests that PTC should prioritize highly important ESG principles, consider the moderating role of CG on the link between ESG scores and ESG disclosures, and use ESG disclosures as a strategic tool to develop ESG scores and disclosures.

Turkish validity and reliability of the Self-Report Instrument to Measure Patient Safety Attitudes, Skills, and Knowledge.

AIMS: The present study was carried out methodologically to provide the Turkish equivalence of the Self-Report Instrument to Measure Patient Safety Attitudes, Skills, and Knowledge and to determine its reliability and validity. METHODS: This methodological study included 317 nurses. The back-translation method was used to test the linguistic equivalence of the methodological scale. Experts' opinions were asked to test its content validity. Time invariance (test-retest reliability) and internal consistency were tested to test its reliability. A group of 100 nurses participated in the test-retest. The content validity index and confirmatory factor analysis were used to test its validity. RESULTS: The scale was highly reliable, with a content validity index value of 0.965 and an overall internal consistency coefficient of 0.875. Confirmatory Factor Anaysis (CFA) showed that the goodness-of-fit indices were good and that the model was suitable for this situation. CONCLUSIONS: The Turkish version of this scale is reliable and valid for evaluating nurses' knowledge and attitudes about patient safety and their perceptions of patient safety culture. Therefore, it is possible to apply this approach in studies carried out in Türkiye.

Examining the psychometric properties of the Turkish version of the proactive coping scale in nursing students: A methodological study.

AIM: The aim of this study was to use the "PROACTIVE Coping Scale" to adapt the scale to Turkish culture, to determine its validity and reliability in a sample of undergraduate nursing students, and to evaluate the proactive coping levels of nursing students. BACKGROUND: Proactive coping skills are very important for nursing students to cope effectively with various stressors that they may encounter both in their academic lives and in their future professional lives. There are no valid and reliable instruments for measuring the proactive coping levels of nursing students in Turkey. METHODS: The present study is a descriptive and methodological study. Research data were collected between 01.12.2023 and 01.01.2024 via face-to-face interviews. The study was completed by 272 nursing students who voluntarily agreed to participate in the study. In the analysis of the data, number/percentage, exploratory and confirmatory factor analysis, and Cronbach's Alpha reliability coefficient methods were used. RESULTS: The scale structure was confirmed with 19 items and 4 factors. The Cronbach's alpha reliability coefficient of the PROACTIVE Coping Scale was found to be 0.816. The scale explains 67.17% of the total variance, and item correlation values vary between 0.263 and 0.650. CONCLUSIONS: The study showed that the PROACTIVE Coping Scale is a valid and reliable instrument for evaluating the proactive coping levels of nursing students.

Turkish society's perception of nursing image during the COVID-19 pandemic.

BACKGROUND: The status of nurses who form the backbone of the health system, and the society's perspective on nursing has undergone serious transformations during the COVID-19 pandemic. The visibility of nurses, who constantly fought on the front lines in the harsh conditions of the pandemic, increased even more in this period. Thus, this study was aimed at determining Turkish people's perception of nursing during the COVID-19 pandemic and investigating whether there is a significant relationship between the mean score obtained from the Nursing Image Scale and the descriptive variables. METHOD: The sample of this cross-sectional study consisted of 420 Turkish citizens. The "Descriptive Characteristics Form" and "Nursing Image Scale" were used to collect data. In addition to descriptive analysis, the t-test and One-Way ANOVA test were used. RESULTS: Turkish people's nursing image during the COVID-19 pandemic was highly positive. Individuals who stated that they had a chronic disease perceived nursing as a professional occupation, which transformed their current nursing image to a more positive image during the COVID-19 pandemic and the mean score they obtained from the Nursing Image Scale was statistically significantly high. CONCLUSION: We concluded that Turkish people's perceptions of nurses changed for the better during the pandemic and their awareness of nursing improved. It is the nurses' responsibility to improve the nursing image of the society. Therefore, it is critical for nurses to create a modern nurse image picturing them as producers of scientific knowledge and independent leaders.

TURead: An eye movement dataset of Turkish reading.

In this study, we present TURead, an eye movement dataset of silent and oral sentence reading in Turkish, an agglutinative language with a shallow orthography understudied in reading research. TURead provides empirical data to investigate the relationship between morphology and oculomotor control. We employ a target-word approach in which target words are manipulated by word length and by the addition of two commonly used suffixes in Turkish. The dataset contains well-established eye movement variables; prelexical characteristics such as vowel harmony and bigram-trigram frequencies and word features, such as word length, predictability, frequency, eye voice span measures, Cloze test scores of the root word and suffix predictabilities, as well as the scores obtained from two working memory tests. Our findings on fixation parameters and word characteristics are in line with the patterns reported in the relevant literature.

Detection of putative loci affecting milk yield in Turkish Awassi sheep using microsatellite markers.

On the basis of comparisons between bovine and ovine genome mapping information, the aim of the study was to analyze the genetic diversity of selected DNA microsatellites from the bovine genome and to investigate their correlation with the average daily milk yield in Awassi sheep. 18 informative microsatellite markers were selected from the significant QTL regions affecting milk yield identified in the bovine genome in previous studies. The selected microsatellite markers were then amplified by PCR as reciprocal amplifications on the genomic DNA of Awassi sheep, with standard daily milk yield records. Thus, in this study, 18 microsatellite markers associated with milk yield in the bovine genome were examined for both determination of genetic polymorphism within the flock and the effects of marker loci on average daily milk yield in Awassi sheep. Allele frequencies of markers were determined based on the results of fragment analysis. The analysis of variance showed that the 123 bp allele at the marker locus BMS1341 on BTA2 significantly influenced the average daily milk yield of Ivesi sheep (P < 0.01). On the other hand, the BMS381 locus with a 115 bp allele on BTA2, the MCM140 locus with a 185 bp allele on BTA6, the BMS2721 locus with a 155 bp allele, the BM1237 locus with 174 and 180 bp alleles on BTA7, and finally, the BMS1967 locus with a 117 bp allele, the BM4208 locus with 176 and 182 bp alleles, and the INRA locus with a185 bp allele on BTA8 showed moderately significant effects on the average daily milk yield of Ivesi ewes (P < 0.05).

Doing old(er) age in a translocal context: Turkish-born women's experiences of ageing, care and post-mortem care practices.

This article elaborates on how Turkish-born women in Sweden do old age in relation to gender and migrancy and aims to understand the fluid process of doing over their life course. It draws upon 20 in-depth and semi-structured interviews with Turkish-born women aged 60-78 and aims to address the tensions between agency and intersecting power positions. Theoretically, the article relies on critical feminist gerontology and doing old age to address the negotiations and performances of the interviewed women. The findings show that there are several ambivalences and dilemmas in how the women do old age in a transnational setting. Intergenerational and gendered old age care comes to fore as a significant negotiation site. The women negotiate identity categories with both imagined others and the social actors in their lives (such as their children) over their life course, which implies the situated and relational aspect of doing old age.

Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.

Classic galactosemia (OMIM#230400) is an autosomal recessive inborn error of carbohydrate metabolism caused by a deficiency of the galactose-1-phosphate-uridyl-transferase enzyme encoded by the GALT gene. Even though a galactose-restricted diet efficiently resolves the acute complications, it is insufficient to prevent long-term complications regarding speech defects, intellectual functioning, premature ovarian failure, cataract, hepatomegaly, dysarthria, ataxia, and tremor. Seventy-seven patients who were genetically diagnosed with classic galactosemia were included in this cohort. Identified novel variants were classified based on their predicted effect on the GALT function. Further, potential genotype-phenotype correlations were investigated via statistical analysis. In total, 18 different sequence variants were identified, including four novels (c.200delG/p.(Arg67Profs* 19), c.533T>G/ p.(Met178Arg), c.708_709delGT/p.(Ser236Argfs* 30), c.467C>A/p.(Ser156* )). Jaundice was the most common short-term finding with 80% (61/77). Even with early diagnosis, intellectual disability is encountered with 36% (27/74) of the long-term complications. Patients with biallelic missense variants have a significantly higher prevalence of cataracts (OR: 17.9). Longitudinal observations showed attenuation of cataracts and hepatomegaly. This study has shown the GALT variation spectrum of the Turkish population with a 30-year retrospective cohort, submitting a significant contribution to the genotype/phenotype correlation in galactosemia. This study also highlights the cost-effective importance of Sanger sequencing in the diagnosis of single-gene metabolic diseases.