Pakistan Journal of Medical Sciences最新文献

{"title":"Prevalence-pattern of congenital and hereditary anomalies in Balochistan Province of Pakistan.","authors":"Azmatullah, Muhammad Qasim Khan, Abdullah Jan, Junaid Mehmood, Sajid Malik","doi":"10.12669/pjms.40.9.9158","DOIUrl":"https://doi.org/10.12669/pjms.40.9.9158","url":null,"abstract":"<p><strong>Objectives: </strong>This study was aimed to report the prevalence-pattern of hereditary and congenital anomalies (CA) in general population of Balochistan province of Pakistan, and to elucidate the familial/sporadic presentations and parental consanguinity of CA.</p><p><strong>Methods: </strong>In a multi-center cross-sectional study, patients with CA were ascertained from various district hospitals and public places throughout Balochistan from 2019 to 2023. Online Mendelian Inheritance in Man (OMIM) and International Classification of Diseases (ICD-10) databases were utilized for uniformity in classification. Descriptive statistics was employed.</p><p><strong>Results: </strong>A cohort of 1185 independent patients diagnosed with CA was recruited and the index males were 71%. The CA were classified into nine major and 118 minor entities. In the major categories, neurological disorders had the highest prevalence (n=317; 27%), followed by limb defects (n=161; 14%), blood-heart defects (n=159; 13%), neuromuscular anomalies (n=156; 13%), sensorineural/ear defects (n=140; 12%), eye/visual impairments (n=90; 8%), musculoskeletal defects (n=83; 7%), ectodermal defects (n=31; 3%), and others (48; 4%). Sixty one percent CA were sporadic in nature and 39% were familial; and parental consanguinity was observed in 51% cases. Several rare CA were witnessed.</p><p><strong>Conclusions: </strong>High preponderance of sporadic presentations in neuromuscular anomalies and musculoskeletal defects and low incidence of parental consanguinity in ectodermal defects and musculoskeletal defects may depict a significant etiological role of non-genetic/environmental factors such as prenatal exposures and maternal conditions. In this context, it is important to increase health education, enhance antenatal and perinatal care, and strengthen the health-care system in Balochistan to reduce the burden of CA.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11476130/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472313","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Discovering down's syndrome: An account from A low middle income country.","authors":"Ayeza Ali, Nabiha Ali, Misbah Iqbal Hanif, Syed Rehan Ali","doi":"10.12669/pjms.40.9.9083","DOIUrl":"https://doi.org/10.12669/pjms.40.9.9083","url":null,"abstract":"<p><strong>Objective: </strong>This study aims to establish the frequency of Down's syndrome which will enhance the knowledge of our local population as well to understand our genotypic patterns and variations.</p><p><strong>Methods: </strong>Electronic Medical Records of inborn babies at the Department of Neonatology, Sheikh Saeed Memorial Campus of The Indus Hospital Karachi during the study period from 1^st January 2021 to 31^st December 2022 were retrieved. Chromosomal karyotyping was done for all babies with suspicious clinical features identified on routine new born examination by consultant neonatologists, trainee doctors and experienced nurses.</p><p><strong>Result: </strong>There was a total of 7,433 live births during the study period, out of which 14 babies had features suggestive of DS. repetition of sentence. What about karyotyping result??</p><p><strong>Conclusion: </strong>The frequency of DS in our study is slightly higher than the incidence reported within South East Asia. It is high time to perform effective antenatal screening and efficient prenatal diagnostic services for early detection of chromosomal numerical aberration such as Down syndrome for better management of upcoming pregnancies.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11476133/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dexmedetomidine leads to the amelioration of stress response to surgery.","authors":"Khalida Ajmal, Akbar Waheed, Rashada Farooqi, Qaisar Mansoor","doi":"10.12669/pjms.40.9.8792","DOIUrl":"https://doi.org/10.12669/pjms.40.9.8792","url":null,"abstract":"<p><strong>Objectives: </strong>To determine the impact of intravenous Dexmedetomidine (Dex) administered perioperatively on stress response markers in patients undergoing ENT surgeries.</p><p><strong>Methods: </strong>This randomized interventional study was conducted at POFs Hospital and NUMS affiliated WMC, Wah Cantt, in collaboration with IIMC Rawalpindi, Pakistan, from October 2021 to April 2022. One hundred patients aged between 15-60 years, after satisfying the inclusion standards were randomly divided into two groups C and D. Group-C (n=50) received normal saline in addition to the standard anesthesia protocol. The intervention Group-D (n=50) was administered 1µg/kg dexmedetomidine hydrochloride intravenously over 10 minutes just before the induction followed 0.5μg/kg/hr as maintenance dose till the end of surgery. Serum inflammatory biomarkers (interleukins-6, TNF-α and cortisol) were measured in blood samples in both groups, taken at 0 (T0), 30 minutes(T1), and two hours (T2) time intervals and analyzed by using Enzyme-linked immunosorbent assay (ELISA). Data was statistically analyzed using SPSS 23.</p><p><strong>Results: </strong>The patients receiving Dex showed marked decrease in serum levels of cortisol, TNF- α and interleukins-6, from 139.73 to10.18, 99.51 to 0.96 and 85.09 to 0.96 respectively. Comparison between C and D groups revealed significant differences (p≤0.05) in these serum biomarkers.</p><p><strong>Conclusions: </strong>In the present study, intravenous Dex suppressed the intraoperative rise in levels of cytokine secretion and enhanced smooth recovery with no incidence of nausea and vomiting. These effects could be attributed to the anti-inflammatory effects of dexmedetomidine.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11476164/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk factors associated with respiratory distress syndrome in late preterm infants.","authors":"Hongbin Zhu, Yueyi Wang, Haiwei Yin, Fang Liu, Yanfei Ma, Xinyue Li","doi":"10.12669/pjms.40.9.9078","DOIUrl":"https://doi.org/10.12669/pjms.40.9.9078","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the risk factors for neonatal respiratory distress syndrome (NRDS) in late preterm infants.</p><p><strong>Method: </strong>A retrospective analysis was performed on the clinical data of 86 late preterm infants with a gestational age of 34-36⁺⁶ weeks who were admitted to Maternity & Child Care Center of Qinhuangdao from June 2022 to June 2023 and with complete clinical records. All enrolled infants were divided into the non-NRDS group(<i>n</i>=51) and the NRDS group(<i>n</i>=35) according to the presence or absence of NRDS.</p><p><strong>Result: </strong>No statistically significant differences were observed in birth weight, gestational age and gravidity between the two groups(<i>p></i>0.05), while there were statistically significant differences in fetal gender, mode of delivery and presence or absence of asphyxia(<i>p<</i>0.05). Moreover, no statistically significant differences were found in advanced maternal age, anemia, multiple births, and gestational hypertension(<i>p></i>0.05), while there were statistically significant differences in placental abnormalities, intrauterine distress, premature rupture of membranes, and gestational diabetes mellitus(<i>p<</i>0.05). Logistic regression analysis revealed that fetal gender(male), placental abnormalities, intrauterine distress, premature rupture of membranes, and gestational diabetes mellitus were risk factors for NRDS in late preterm infants(<i>p<</i>0.05).</p><p><strong>Conclusion: </strong>Late preterm infants suffer from NRDS due to a variety of complex pathogenic causes, with numerous complications. Factors such as male fetal gender, placental abnormalities, intrauterine distress, premature rupture of membranes, and gestational diabetes mellitus may increase the risk of NRDS in late preterm infants. In clinical observation, it is necessary to strengthen monitoring efforts and take timely measures to intervene in the course of NRDS.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11476139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatment-Resistant Mood Disorders.","authors":"Nadia Naeem, Rabia Farooqi","doi":"10.12669/pjms.40.9.8245","DOIUrl":"https://doi.org/10.12669/pjms.40.9.8245","url":null,"abstract":"<p><strong>Objective: </strong>The objective of the study was to explore the presentation of symptoms in patients suffering from treatment-resistant mood disorder (TRMD), and associated clinical features, including age, gender, and comorbid conditions, that lead towards the development of treatment-resistant mood disorder. Furthermore, the study analyses the available psychotherapeutic treatment modalities and evidence-based non-medical treatment approaches for TRMD.</p><p><strong>Method: </strong>The current study utilized a systematic review approach where 37 articles were studied and three articles were theoretically sampled to authenticate and signify the findings. PRISMA guidelines were followed and the review was conducted by searching social sciences databases and electronic libraries including Google Scholar, Sage Journal, and Science Direct (1990-2020).</p><p><strong>Results: </strong>The results suggested that psychotherapeutic interventions including cognitive behavior therapy, mindful-based cognitive therapy; and interpersonal and social rhythm therapeutic interventions are efficacious modalities for treatment when in augmentation with psychopharmacological treatment. Bipolar diathesis and comorbid conditions of anxiety and personality disorders are possible causal factors in developing the condition of treatment resistance in mood disorders. The prevalence rate of TRMD is more common in females and in late adulthood. The analysis also suggests that there are numerous risk factors contributing to making a mood disorder treatment-resistant over a period of time; the most observed conditions were physical and psychological comorbidity, inaccurate diagnosis, lack of proper medical treatment, illness severity, and late age diagnosis. In evidence-based non-medical treatment approaches aerobics demonstrated promising results in improving the condition of complex mood disorders.</p><p><strong>Conclusion: </strong>It was concluded that psychotherapeutic interventions in augmentation with pharmacological modalities enhance the efficacy of treatment.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11476141/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy of butylphthalide in the treatment of patients with stroke attributed to intracranial arterial stenosis.","authors":"Xudong Lu, Shuxia Qian, Yanping Wang, Xiaoling Zhang, Yuhua Jin, Bo Yu","doi":"10.12669/pjms.40.9.10100","DOIUrl":"https://doi.org/10.12669/pjms.40.9.10100","url":null,"abstract":"<p><strong>Objective: </strong>To explore the clinical efficacy of butylphthalide in treating patients with stroke attributed to intracranial artery stenosis (ICAS).</p><p><strong>Methods: </strong>In this retrospective study, records of 163 patients with stroke attributed to ICAS admitted to Jiaxing Second Hospital from January 2021 to January 2023 were retrospectively analyzed. Patients were divided into two groups based on the treatment received: control group (patients received routine treatment, n=55) and observation group (patients treated with butylphthalide on a routine basis, n=58). Changes in levels of cerebrovascular reactivity (CVR), breath-holding index (BHI), pulsatility index (PI), and middle cerebral artery mean flow velocity (Vm) between the two groups before and after treatment were compared. In addition, cognitive function, neurological function, and living ability were compared between the two groups before and after treatment, as well as the overall clinical efficacy of the treatment.</p><p><strong>Results: </strong>The baseline data was comparable between the two groups (<i>P</i>>0.05). After the treatment, CVR, BHI, and Vm indicators in the observation group were significantly higher than those in the control group, while the levels of PI indexes were significantly lower than those in the control group (<i>P</i><0.05). Montreal Cognitive Assessment (MoCA) and Barthel scale scores of the observation group were significantly higher compared to the control group, while the scores of National Institutes of Health Stroke Scale (NIHSS) were significantly lower (<i>P</i><0.05).</p><p><strong>Conclusions: </strong>Butylphthalide in addition to routine treatment can effectively improve cerebrovascular reserve function, promote neurological and cognitive dysfunction recovery, and enhance daily living ability of patients with stroke caused by ICAS.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11476165/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of high-flow nasal oxygen therapy combined with ipratropium bromide on Th1/Th2 balance and inflammation in patients with chronic obstructive pulmonary disease and respiratory failure.","authors":"Ting Li, Xuefen Xu","doi":"10.12669/pjms.40.9.10221","DOIUrl":"https://doi.org/10.12669/pjms.40.9.10221","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the effect of a combination of high-flow nasal oxygen therapy (HFNO) and ipratropium bromide (IB) on Th1/Th2 balance and inflammation in patients with chronic obstructive pulmonary disease (COPD) and respiratory failure (RF).</p><p><strong>Methods: </strong>A retrospective analysis was conducted on the clinical data of patients with COPD and RF admitted to the Affiliated Nanjing Brain Hospital of Nanjing Medical University from June 2021 to March 2023. A total of 162 patients were included, with 79 patients received respiratory support using HFNO (HFNO group) and 83 patients who were treated using combined HFNO/IB (combined group). Treatment effect, lung function, levels of Th1/Th2, and inflammatory state were compared before and after the treatment.</p><p><strong>Results: </strong>Total effeicacy of patients in the combined group was significantly higher than that of the HFNO group (<i>P</i><0.05). After the treatment, pulmonary function levels of the two groups was higher than that before the treatment, and was significantly better in the combined group compared to the HFNO group (<i>P</i><0.05). The treatment was associated with a significant increase in the levels of Th1/Th2 in both groups. Post-treatment levels of these indexes in the combined group were markedly higher compared to the HFNO group (<i>P</i><0.05). After the treatment, the inflammatory response of the two groups decreased, and was lower in the combined group that in the HFNO group (<i>P</i><0.05).</p><p><strong>Conclusions: </strong>In COPD patients with RF, HFNO combined with IB is efficient in alleviating the inflammatory state of patients, restoring Th1/Th2 balance, and improving lung function compared to HFNO alone.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11476147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472282","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison between modified and conventional combined Trabeculotomy-Trabeculectomy with Mitomycin-C for intraocular pressure reduction in primary congenital glaucoma.","authors":"Ahmed Raza, Muhammad Ajmal Chaudhary, Asma Mushtaq, Asad Aslam Khan","doi":"10.12669/pjms.40.9.8788","DOIUrl":"https://doi.org/10.12669/pjms.40.9.8788","url":null,"abstract":"<p><strong>Objectives: </strong>To determine the efficacy of modified combined trabeculotomy-trabeculectomy (CTT) with mitomycin-C (MMC) versus conventional CTT with MMC for intraocular pressure (IOP) reduction in patients with primary congenital glaucoma (PCG).</p><p><strong>Methods: </strong>This interventional study was carried out in The Institute of Ophthalmology, Lahore from January 2018 to June 2019. We included 70 patients of either gender, with the age range from birth to ten years and with PCG having IOP >30 mm Hg. These patients were divided in groups A and B with 35 patients in each group. Patients in Group-A underwent modified CTT with MMC and in Group-B conventional CTT with MMC was carried out.</p><p><strong>Results: </strong>The mean age of our patients was 15.17 ± 12.39 months. Regarding gender, 57 (81.4%) were males and 13 (18.6%) were females. Baseline mean IOP in Group-A was 32.49 ± 1.01 mm Hg whereas in Group-B mean IOP was 31.97 ± 1.04 mm Hg. After one month, the mean IOP was 27.60 ± 1.72 mm Hg in Group-A, whereas mean IOP was 27.40 ± 1.82 mmHg in Group-B. After three months, the mean IOP was 21.63 ± 1.09 mm Hg in Group-A, whereas 20.97 ± 1.12 mm Hg in Group-B. In Group-A efficacy was achieved in 14 (40%) patients whereas in Group-B efficacy was achieved in 25 (71.4%) patients.</p><p><strong>Conclusion: </strong>Our study revealed that conventional CTT with MMC showed better efficacy than modified CTT with MMC for reduction of IOP in PCG.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11476172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retrospective cohort study of video-assisted thoracoscopic precise positioning reduction and internal fixation and thoracotomy reduction and internal fixation in treating multiple rib fractures.","authors":"Jinlong Shi, Jing Liu","doi":"10.12669/pjms.40.8.9196","DOIUrl":"https://doi.org/10.12669/pjms.40.8.9196","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to assess the clinical effect of video-assisted thoracoscopic precise positioning reduction and internal fixation and thoracotomy reduction and internal fixation in the therapy of multiple rib fractures.</p><p><strong>Methods: </strong>A total of 80 patients with multiple rib fractures in First People's Hospital of Jingzhou from January 2021 to December 2022 were separated into control group (CG, 40 cases) and research group (RG, 40 cases) by random number table method. Patients in the CG received thoracotomy reduction and internal fixation. Patients in the RG received video-assisted thoracoscopic precise positioning reduction and internal fixation. Surgery-related indexes, serum interleukin, visual analogue scale (VAS) was used to evaluate postoperative pain, arterial oxygen saturation (SaO2) and oxygenation index (PaO2/FiO2), and pulmonary function indexes were measured in the two groups.</p><p><strong>Results: </strong>After surgery, Visual analog scale (VAS) scores at 24 hour after surgery were reduced compared to six hour and 12 hour after surgery (P<0.05). VAS score at 12 hour after surgery was increased relative to 6 h after surgery (P<0.05), and VAS score at six hour, 12 hour as well as 24 hour after surgery in the RG was lessened in comparison with the CG (P<0.05). One day after surgery, SaO₂ and PaO₂/FiO₂ in two groups were elevated compared to before surgery, and those in RG was increased in contrast to the CG (P<0.05). forced expiratory volume (FEV1), forced vital capacity (FVC), peak expiratory flow velocity (PEF) along with FEV1/FVC levels in two groups were increased (P<0.05).</p><p><strong>Conclusion: </strong>Compared with thoracotomy reduction and internal fixation, video-assisted thoracoscopic accurate positioning and internal fixation in treating patients with multiple rib fractures had a short treatment time, obvious advantages, and strong feasibility.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11395377/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142293060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Variants in Vitamin-D Metabolism Genes (rs1155563, rs12785878 and rs10500804) among Females with Type-2 Diabetes Mellitus in Saudi Arabia.","authors":"Shatha Alharazy","doi":"10.12669/pjms.40.8.9318","DOIUrl":"https://doi.org/10.12669/pjms.40.8.9318","url":null,"abstract":"<p><strong>Background & objective: </strong>Hypovitaminosis D has shown to be linked with T2DM development and control in numerous studies. The association of SNPs in genes related to VitD metabolism with T2DM has not been sufficiently studied. Consequently, our aim in the present study was to explore the association between genetic variants in genes connected with VitD, mainly a SNP in GC (rs1155563), a SNP in DHCR7 (rs12785878) and a SNP in CYP2R1 (rs10500804) with glycaemic parameters in females with T2DM in Saudi Arabia.</p><p><strong>Methods: </strong>The cross-sectional study included 149 females (age 38-52 years) with T2DM from Jeddah, Saudi Arabia (September 2022-March 2023). Blood was extracted from the participants for biochemical tests including measuring VitD [25(OH)D] concentration, parameters of glycaemia (HbA1c, insulin, fasting glucose and insulin sensitivity indices including HOMA2-IR and HOMA2-%β), and for genomic DNA isolation. Sanger DNA sequencing was used to screen for VitD genetic polymorphisms (rs1155563, rs12785878 and rs10500804).</p><p><strong>Results: </strong>Minor allele frequency for rs1155563C, rs12785878T and rs10500804G was 0.21, 0.23 and 0.37, respectively. Levels of 25(OH)D and glycaemic parameters as well did not show any significant difference between the genotypes of each SNP.</p><p><strong>Conclusion: </strong>This study showed lack of association of rs1155563 in GC, rs12785878 in DHCR7 and rs10500804 in CYP2R1 with VitD level primarily and with glycaemic parameters secondarily. Additional research is required to explore further other VitD genetic polymorphisms influencing T2DM which might lead consequently to genetically-based personalized management for T2DM.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11395384/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142293035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}