Pub Date : 2023-01-01DOI: 10.5455/annalsmedres.2022.11.332
smail ndar
{"title":"Incidental cause of mild hyperglycemia in children: genetic, clinical, and follow-up features of Glucokinase-MODY diabetes","authors":"smail ndar","doi":"10.5455/annalsmedres.2022.11.332","DOIUrl":"https://doi.org/10.5455/annalsmedres.2022.11.332","url":null,"abstract":"<jats:p />","PeriodicalId":8248,"journal":{"name":"Annals of Medical Research","volume":"93 3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88383275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-01DOI: 10.5455/annalsmedres.2022.09.297
A. M. Res, Hicran Doğru, Yuce Kahraman
Objective: Fragile X syndrome (FXS) is a rare genetic disease that can have several intellectual and developmental disabilities. Here, we aim to examine psychopathology in children with FXS and investigate the relationship between children's psychosocial well-being and socio-demographic factors, autism spectrum disorder (ASD) comorbidity, and the type and level of caregivers' perceived social support. Materials and Method: Twenty-six children aged 5-18 years with FXS and 26 age- and sex-matched healthy controls (HC) were included. DSM-5-based clinical interviews were conducted with all participants. We also collected parent ratings of health-related quality of life indexes and perceived social support levels and types. Results: The mean age of children with FXS was 10.9 ± 3.5 years, and the mean age of healthy comparisons (HC, n= 26) was 11.8 ± 2.6 years. In the FXS group, 84.6% had comorbid psychiatric disorders, and 65.3% had intellectual disability. FXS group displayed lower psychosocial and total quality of life scores than the HC group. Also, there was significant positive correlations between childrens' psychosocial well-being and "significant others" (rp = 0.502, p = 0.009) and total perceived support scores (rp = 0.448, p = 0.022). The most influential factor related to the psychosocial well-being in children with FXS was ASD comorbidity (F= 30.6, R2, 0.543, p<0.001). Conclusion: Providing support to mothers of children with FXS may positively affect the children's health outcomes, especially psychosocial well-being.
目的:脆性X染色体综合征(FXS)是一种罕见的遗传性疾病,可导致多种智力和发育障碍。本研究旨在研究FXS儿童的心理病理,探讨儿童心理社会健康与社会人口统计学因素、自闭症谱系障碍(ASD)共病、照顾者感知社会支持类型和水平的关系。材料与方法:纳入26例5-18岁FXS患儿和26例年龄与性别匹配的健康对照(HC)。对所有参与者进行基于dsm -5的临床访谈。我们还收集了父母对健康相关生活质量指数和感知社会支持水平和类型的评分。结果:FXS患儿的平均年龄为10.9±3.5岁,健康对照(HC, n= 26)的平均年龄为11.8±2.6岁。在FXS组中,84.6%患有共病性精神障碍,65.3%患有智力残疾。FXS组的社会心理和总生活质量得分低于HC组。此外,儿童心理社会幸福感与“重要他人”(rp = 0.502, p = 0.009)和总感知支持得分(rp = 0.448, p = 0.022)之间存在显著正相关。影响FXS患儿心理社会健康的最主要因素是ASD合并症(F= 30.6, R2, 0.543, p<0.001)。结论:为FXS儿童的母亲提供支持可能会对儿童的健康状况产生积极影响,尤其是心理社会健康。
{"title":"The Psychosocial Well-being of Children with Fragile X Syndrome: Psychopathology, Autism Spectrum Disorder Comorbidity and the Role of Caregivers' Perceived Social Support","authors":"A. M. Res, Hicran Doğru, Yuce Kahraman","doi":"10.5455/annalsmedres.2022.09.297","DOIUrl":"https://doi.org/10.5455/annalsmedres.2022.09.297","url":null,"abstract":"Objective: Fragile X syndrome (FXS) is a rare genetic disease that can have several intellectual and developmental disabilities. Here, we aim to examine psychopathology in children with FXS and investigate the relationship between children's psychosocial well-being and socio-demographic factors, autism spectrum disorder (ASD) comorbidity, and the type and level of caregivers' perceived social support. Materials and Method: Twenty-six children aged 5-18 years with FXS and 26 age- and sex-matched healthy controls (HC) were included. DSM-5-based clinical interviews were conducted with all participants. We also collected parent ratings of health-related quality of life indexes and perceived social support levels and types. Results: The mean age of children with FXS was 10.9 ± 3.5 years, and the mean age of healthy comparisons (HC, n= 26) was 11.8 ± 2.6 years. In the FXS group, 84.6% had comorbid psychiatric disorders, and 65.3% had intellectual disability. FXS group displayed lower psychosocial and total quality of life scores than the HC group. Also, there was significant positive correlations between childrens' psychosocial well-being and \"significant others\" (rp = 0.502, p = 0.009) and total perceived support scores (rp = 0.448, p = 0.022). The most influential factor related to the psychosocial well-being in children with FXS was ASD comorbidity (F= 30.6, R2, 0.543, p<0.001). Conclusion: Providing support to mothers of children with FXS may positively affect the children's health outcomes, especially psychosocial well-being.","PeriodicalId":8248,"journal":{"name":"Annals of Medical Research","volume":"21 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85740682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-01DOI: 10.5455/annalsmedres.2022.04.150
A. Birant, G. Kozdağ, D. Ural, A. Ağır
Study Design: A prospective clinical cohort study. Objective: In this study, it was aimed to examine the effects of metabolic syndrome, which affects many organs, on the autonomic nervous system and to observe the changes after treatment. Materials and Methods: Heart rate variability values of 101 metabolic syndrome patients who were treated at the Kocaeli University Cardiology Outpatient Clinic included in the study. All patients were offered lifestyle change suggestions in addition to their medical treatments. At the end of three months, the heart rate variability parameters of the patients were re-evaluated. Results: Heart rate variability values were found to be significantly lower in metabolic syndrome patients compared to the control group. It was observed that the heart rate variability values improved significantly in half of the patients who applied the given treatment with lifestyle changes. A decrease in heart rate change parameters was found in the group that did not implement lifestyle changes compared to the beginning of the study. Conclusions: Autonomic nervous system functions evaluated by heart rate variability decreased in patients with metabolic syndrome, and the treatment and lifestyle changes had a positive effect on these parameters.
{"title":"The effect of lifestyle change on autonomic nervous system dysfunction in patients with \u0000metabolic syndrome","authors":"A. Birant, G. Kozdağ, D. Ural, A. Ağır","doi":"10.5455/annalsmedres.2022.04.150","DOIUrl":"https://doi.org/10.5455/annalsmedres.2022.04.150","url":null,"abstract":"Study Design: A prospective clinical cohort study. Objective: In this study, it was aimed to examine the effects of metabolic syndrome, which affects many organs, on the autonomic nervous system and to observe the changes after treatment. Materials and Methods: Heart rate variability values of 101 metabolic syndrome patients who were treated at the Kocaeli University Cardiology Outpatient Clinic included in the study. All patients were offered lifestyle change suggestions in addition to their medical treatments. At the end of three months, the heart rate variability parameters of the patients were re-evaluated. Results: Heart rate variability values were found to be significantly lower in metabolic syndrome patients compared to the control group. It was observed that the heart rate variability values improved significantly in half of the patients who applied the given treatment with lifestyle changes. A decrease in heart rate change parameters was found in the group that did not implement lifestyle changes compared to the beginning of the study. Conclusions: Autonomic nervous system functions evaluated by heart rate variability decreased in patients with metabolic syndrome, and the treatment and lifestyle changes had a positive effect on these parameters.","PeriodicalId":8248,"journal":{"name":"Annals of Medical Research","volume":"33 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87400379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}