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Risk Factors of Malnutrition in Children with Cystic Fibrosis: A 14-year Retrospective Study from Saudi Arabia. 囊性纤维化儿童营养不良的危险因素:一项来自沙特阿拉伯的14年回顾性研究
IF 1.5 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-01 Epub Date: 2025-10-14 DOI: 10.4103/sjmms.sjmms_94_25
Farah A Albrahim, Yazan S Said, Kholoud A Althobaiti, Razan M Bader, Reem A Aljunaid, Wesam A Alyahya, Rabie Y Khattab

Background: Malnutrition is a common concern in children with cystic fibrosis, impacting their growth and lung function. Despite its significance, research on malnutrition risk factors in children with cystic fibrosis is limited in Saudi Arabia.

Objectives: This study aimed to determine the nutritional status and its associated factors in children with cystic fibrosis.

Methods: This retrospective study included all pediatric patients (aged <18 years) with cystic fibrosis who were followed in the pediatric pulmonology clinic at a tertiary care hospital in Dammam, Saudi Arabia, between January 2010 and July 2023.

Results: A total of 48 children with cystic fibrosis were included (mean age: 9.7 ± 5.6 years; females: 70.8%). The mean body mass index-for-age/weight-for-length z-score value was -1.61 ± 1.87. Most children were malnourished (60.4%). Compared to those who were not malnourished, malnourished children had significantly delayed diagnosis (P = 0.004), higher hospital admission rates (P = 0.015), uncontrolled fat malabsorption (P = 0.034), and poor appetite (P < 0.001). Independent factors associated with the risk of malnutrition were age (P = 0.014) and fair/poor appetite and intake (P = 0.008 and 0.002, respectively).

Conclusions: In this cohort from Saudi Arabia, the prevalence of malnutrition among children with cystic fibrosis was high. In addition, factors associated with malnutrition in this population were age, poor appetite and intake, delayed diagnosis, and uncontrolled fat malabsorption.

背景:营养不良是囊性纤维化儿童常见的问题,影响其生长和肺功能。尽管具有重要意义,但对囊性纤维化儿童营养不良危险因素的研究在沙特阿拉伯是有限的。目的:本研究旨在确定囊性纤维化儿童的营养状况及其相关因素。方法:本回顾性研究纳入所有儿童患者(年龄)。结果:共纳入48例囊性纤维化儿童(平均年龄:9.7±5.6岁;女性:70.8%)。平均体重指数年龄/体重长度z-score值为-1.61±1.87。大多数儿童营养不良(60.4%)。与非营养不良儿童相比,营养不良儿童的诊断明显延迟(P = 0.004),住院率较高(P = 0.015),脂肪吸收不受控制(P = 0.034),食欲不佳(P < 0.001)。与营养不良风险相关的独立因素是年龄(P = 0.014)和正常/不良的食欲和摄入量(P分别= 0.008和0.002)。结论:在这个来自沙特阿拉伯的队列中,囊性纤维化儿童中营养不良的发生率很高。此外,与该人群营养不良相关的因素有年龄、食欲和摄入不良、诊断延迟以及不受控制的脂肪吸收不良。
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引用次数: 0
Endovascular Treatment of Acute Ischemic Stroke: A 10-year Experience from Saudi Arabia. 急性缺血性中风的血管内治疗:沙特阿拉伯的10年经验。
IF 1.5 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-01 Epub Date: 2025-10-14 DOI: 10.4103/sjmms.sjmms_101_25
Ismail A Khatri, Zaid AlSaaran, Mohammed AlNafisah, Mufadhi AlShammari, Nouran Taher, Muhammad E Ahmed, Nazish Masud

Background: Since 2015, endovascular therapy (EVT) has become the standard of care for acute ischemic stroke with large vessel occlusion (LVO).

Objectives: To study the clinical and radiological features and outcomes of patients who underwent EVT at a tertiary care center in Saudi Arabia.

Methods: This retrospective study included all patients who underwent EVT between January 2012 and December 2022 at King Abdulaziz Medical City, Riyadh. Demographic, clinical, and radiological variables were analyzed.

Results: A total of 159 patients were included (males: 61%; mean age: 56.8 ± 14.1 years). Most patients had moderate (39%) to severe (45%) stroke. The commonest LVO was right middle cerebral artery (MCA; 38%), followed by left MCA (37%), and basilar artery (19%). The initial ASPECT score was 8.2 ± 1.4. The median door-to-groin time was 126 (IQR 102-152) minutes. Most (84%) received EVT within 6 hours, and intravenous tissue plasminogen activator was used in 78 (49%) patients. Successful recanalization (TICI2b and above) was achieved in 78%, with stent retriever 137 (87%) and aspiration 62 (40%) being the most common techniques. Peri-procedural complications and intraparenchymal hemorrhage were seen in 13% and 12% of the patients, respectively, while 9% required decompressive craniectomy. At discharge, 44 (28%) had modified Rankin score of 0-2; 37 (23%) died. Cardioembolic and large vessel strokes were more common in patients aged >60 years (P < 0.001). Females were more likely to have general anesthesia (P = 0.036) and require decompressive craniectomy (P = 0.003). Patients who had EVT after >6 hours were more likely to have very severe stroke (P = 0.005) and mortality (P = 0.001).

Conclusions: EVT was associated with good procedural outcomes, despite slightly delayed door-to-groin time. Patients in whom EVT was initiated after >6 hours were significantly more likely to have very severe stroke and higher mortality.

背景:2015年以来,血管内治疗(EVT)已成为急性缺血性脑卒中合并大血管闭塞(LVO)的标准治疗方法。目的:研究沙特阿拉伯某三级医疗中心EVT患者的临床和影像学特征及预后。方法:本回顾性研究包括2012年1月至2022年12月在利雅得阿卜杜勒阿齐兹国王医疗城接受EVT的所有患者。分析了人口统计学、临床和放射学变量。结果:共纳入159例患者,其中男性占61%,平均年龄56.8±14.1岁。大多数患者为中度(39%)至重度(45%)脑卒中。最常见的左左动脉是右大脑中动脉(MCA),占38%,其次是左MCA(37%)和基底动脉(19%)。初始ASPECT评分为8.2±1.4。门到腹股沟的中位时间为126分钟(IQR 102-152)。大多数(84%)患者在6小时内接受EVT治疗,78例(49%)患者静脉注射组织型纤溶酶原激活剂。78%的患者成功再通(TICI2b及以上),其中支架回收器137(87%)和抽吸器62(40%)是最常见的技术。术中并发症和脑实质出血分别在13%和12%的患者中出现,9%的患者需要行颅骨减压切除术。出院时,44例(28%)的Rankin评分为0-2;死亡37例(23%)。心脏栓塞性和大血管卒中在60 ~ 60岁患者中更为常见(P < 0.001)。女性更倾向于全麻(P = 0.036)和开颅减压术(P = 0.003)。在bbbb6小时后发生EVT的患者更容易发生非常严重的卒中(P = 0.005)和死亡率(P = 0.001)。结论:EVT与良好的手术结果相关,尽管门到腹股沟的时间略有延迟。在60 ~ 60小时后开始EVT的患者更有可能发生非常严重的中风和更高的死亡率。
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引用次数: 0
Gastrointestinal Hemorrhage in Patients Receiving Antithrombotic Therapy: Clinical Patterns and Prognosis from Two Tertiary Care Hospitals. 接受抗栓治疗的患者消化道出血:两家三级医院的临床模式和预后
IF 1.5 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-01 Epub Date: 2025-10-14 DOI: 10.4103/sjmms.sjmms_713_24
Hamdan S AlGhamdi, Mohammed A Koshan, Nasser F AlOtaibi, Fahad M AlOtaibi, Faisal F AlSubaie, Hussain A Ekhuraidah, Rayan H Al Zahrani, Abed A AlLehibi, Najd S AlGazlan, Abdulrahman A Aljumah

Objectives: To evaluate clinical patterns and prognosis of gastrointestinal hemorrhage (GIH) in patients on antithrombotic therapy (AT).

Materials and methods: This retrospective study included patients hospitalized with GIH between January 2010 and January 2020 at two tertiary care centers in Riyadh, Saudi Arabia. Demographics, clinical/laboratory/endoscopic findings, and outcomes were analyzed.

Results: The study included 759 GIH patients: 354 AT users and 405 non-users. AT users were older (69.2 ± 13.9 vs 59.7 ± 17.1 years; P < 0.0001) with more cardiovascular comorbidities: hypertension (72.0% vs 38.5%), diabetes (63.3% vs 31.4%), ischemic heart disease (28.0% vs 4.7%), and stroke (15.0% vs 3.0%) (for all, P < 0.0001). Endoscopy showed AT users had higher erosive gastritis (19.2% vs 10.4%; P = 0.001) and colonic ulcers (9.9% vs 5.7%; P = 0.029), while non-users had more esophageal varices (24.4% vs 12.4%; P < 0.0001) and hemorrhoids (25.9% vs 16.4%; P = 0.001). AT users required more transfusions (1.43 ± 2.5 vs. 0.95 ± 1.8 units; P = 0.005), had lower hemoglobin (98.9 ± 29.1 vs. 105.7 ± 30.9 g/L; P = 0.002), higher creatinine (137.89 ± 138.5 vs. 111.3 ± 136.3 µmol/L; P = 0.011), more ICU admissions (28.5% vs. 19.0%; P = 0.002), and higher mortality (15.8% vs. 8.9%; P = 0.042). Independent predictors of mortality were AT (adjusted odds ratio [aOR]: 2.067, 95% CI: 1.102-3.879; P = 0.024), alongside liver cirrhosis (aOR: 2.573, 95% CI: 1.26-5.252; P = 0.009), malignancy (aOR: 2.836, 95% CI: 1.481-5.431; P = 0.002), transfusions (aOR: 1.246, 95% CI: 1.141-1.361; P < 0.001), and serum urea (aOR: 1.037; 95% CI: 1.017-1.057; P < 0.001).

Conclusion: Patients on antithrombotic therapy with gastrointestinal hemorrhage present with distinct risk profiles, severe anemia/renal impairment, higher resource utilization, and significantly increased mortality. These high-risk patients require careful management to improve their clinical outcomes.

目的:探讨抗血栓治疗(AT)患者胃肠道出血(GIH)的临床特点及预后。材料和方法:本回顾性研究纳入了2010年1月至2020年1月在沙特阿拉伯利雅得的两个三级医疗中心因GIH住院的患者。分析了人口统计学、临床/实验室/内窥镜检查结果和结果。结果:研究纳入759例GIH患者,其中354例使用AT, 405例不使用AT。AT使用者年龄较大(69.2±13.9岁vs 59.7±17.1岁;P < 0.0001),心血管合并症较多:高血压(72.0% vs 38.5%)、糖尿病(63.3% vs 31.4%)、缺血性心脏病(28.0% vs 4.7%)和中风(15.0% vs 3.0%)(所有患者均P < 0.0001)。内镜检查显示,AT使用者有更高的糜烂性胃炎(19.2% vs 10.4%, P = 0.001)和结肠溃疡(9.9% vs 5.7%, P = 0.029),而非AT使用者有更多的食管静脉曲张(24.4% vs 12.4%, P < 0.0001)和痔疮(25.9% vs 16.4%, P = 0.001)。AT使用者需要更多的输血量(1.43±2.5比0.95±1.8单位,P = 0.005)、更低的血红蛋白(98.9±29.1比105.7±30.9 g/L, P = 0.002)、更高的肌酐(137.89±138.5比111.3±136.3µmol/L, P = 0.011)、更多的ICU入院率(28.5%比19.0%,P = 0.002)和更高的死亡率(15.8%比8.9%,P = 0.042)。死亡率的独立预测因子为AT(校正优势比[aOR]: 2.067, 95% CI: 1.102-3.879; P = 0.024)、肝硬化(aOR: 2.573, 95% CI: 1.26-5.252; P = 0.009)、恶性肿瘤(aOR: 2.836, 95% CI: 1.481-5.431; P = 0.002)、输血(aOR: 1.246, 95% CI: 1.141-1.361; P < 0.001)和血清尿素(aOR: 1.037; 95% CI: 1.017-1.057; P < 0.001)。结论:接受抗血栓治疗的胃肠道出血患者存在明显的风险特征,严重贫血/肾功能损害,资源利用率高,死亡率显著增加。这些高危患者需要精心管理以改善其临床结果。
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引用次数: 0
Visual Outcomes in Patients with Mixed Astigmatism after Photorefractive Keratectomies with Different Ablation Zones: A Single-center Study from Saudi Arabia. 不同消融区光屈光性角膜切除术后混合性散光患者的视力结局:一项来自沙特阿拉伯的单中心研究
IF 1.5 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-01 Epub Date: 2025-10-14 DOI: 10.4103/sjmms.sjmms_724_24
Mohammed A M AlRubaish

Background: Studies from Saudi Arabia regarding the use of photorefractive keratectomies (PRK) and the optimum optical zones in the treatment of adults with mixed astigmatism are lacking.

Objective: To determine the outcome of PRK treatment in adult patients with mixed astigmatism and the difference in efficacy between different optical zones sizes.

Methods: This retrospective study included consecutive patients with mixed astigmatism who underwent PRK at an ophthalmology clinic in Dammam, Saudi Arabia, between January 2016 and December 2019. Examination of patients included uncorrected distal visual acuity and corrected distal visual acuity. All surgeries were conducted by a single surgeon using the standard PRK technique with different optical zones: ≤6.5 mm and >6.5 mm (i.e., 7 mm and 7.5 mm). Patients were followed up monthly for 3 months.

Results: This study included a total of 65 eyes of 36 consecutive patients who underwent the PRK procedure during the study period. In the Snellen chart assessment, there was a steady increase in the number of patients whose postoperative uncorrected visual acuity was within 1 line of the preoperative corrected visual acuity. In terms of the efficacy of different optical zones, the difference between both groups (i.e., the 6.5 mm and >6.5 mm groups) in each of the three follow-ups was statistically insignificant (first follow-up, P = 0.59; second follow-up, P = 0.39; third follow-up, P = 0.28).

Conclusion: This study demonstrates that the optical zone ranging from 6.5 mm to 7.5 mm yields comparable results.

背景:沙特阿拉伯关于使用光屈光性角膜切除术(PRK)治疗成人混合性散光的最佳光学区域的研究缺乏。目的:探讨PRK治疗成人混合性散光的疗效及不同光区大小的疗效差异。方法:本回顾性研究纳入了2016年1月至2019年12月在沙特阿拉伯达曼的一家眼科诊所接受PRK手术的混合性散光患者。检查包括未矫正的远端视力和矫正的远端视力。所有手术均由一名外科医生进行,采用标准的PRK技术,不同的光学区域:≤6.5 mm和>6.5 mm(即7 mm和7.5 mm)。患者每月随访3个月。结果:本研究包括36例连续患者的65只眼睛,这些患者在研究期间接受了PRK手术。在Snellen图表评估中,术后未矫正视力在术前矫正视力1线以内的患者数量稳步增加。在不同视区疗效方面,三次随访中,两组(即6.5 mm组和>6.5 mm组)的差异均无统计学意义(第一次随访,P = 0.59;第二次随访,P = 0.39;第三次随访,P = 0.28)。结论:本研究表明,从6.5 mm到7.5 mm的光学区产生类似的结果。
{"title":"Visual Outcomes in Patients with Mixed Astigmatism after Photorefractive Keratectomies with Different Ablation Zones: A Single-center Study from Saudi Arabia.","authors":"Mohammed A M AlRubaish","doi":"10.4103/sjmms.sjmms_724_24","DOIUrl":"10.4103/sjmms.sjmms_724_24","url":null,"abstract":"<p><strong>Background: </strong>Studies from Saudi Arabia regarding the use of photorefractive keratectomies (PRK) and the optimum optical zones in the treatment of adults with mixed astigmatism are lacking.</p><p><strong>Objective: </strong>To determine the outcome of PRK treatment in adult patients with mixed astigmatism and the difference in efficacy between different optical zones sizes.</p><p><strong>Methods: </strong>This retrospective study included consecutive patients with mixed astigmatism who underwent PRK at an ophthalmology clinic in Dammam, Saudi Arabia, between January 2016 and December 2019. Examination of patients included uncorrected distal visual acuity and corrected distal visual acuity. All surgeries were conducted by a single surgeon using the standard PRK technique with different optical zones: ≤6.5 mm and >6.5 mm (i.e., 7 mm and 7.5 mm). Patients were followed up monthly for 3 months.</p><p><strong>Results: </strong>This study included a total of 65 eyes of 36 consecutive patients who underwent the PRK procedure during the study period. In the Snellen chart assessment, there was a steady increase in the number of patients whose postoperative uncorrected visual acuity was within 1 line of the preoperative corrected visual acuity. In terms of the efficacy of different optical zones, the difference between both groups (i.e., the 6.5 mm and >6.5 mm groups) in each of the three follow-ups was statistically insignificant (first follow-up, <i>P</i> = 0.59; second follow-up, <i>P</i> = 0.39; third follow-up, <i>P</i> = 0.28).</p><p><strong>Conclusion: </strong>This study demonstrates that the optical zone ranging from 6.5 mm to 7.5 mm yields comparable results.</p>","PeriodicalId":21442,"journal":{"name":"Saudi Journal of Medicine & Medical Sciences","volume":"13 4","pages":"295-298"},"PeriodicalIF":1.5,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12560990/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145401955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nalbuphine as a Potential Alternative to Morphine in Sickle Cell Disease Patients with Vaso-occlusive Crisis: A Retrospective Cohort Study. 纳布啡作为镰状细胞病患者血管闭塞危象吗啡的潜在替代品:一项回顾性队列研究
IF 1.5 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-07-01 Epub Date: 2025-07-14 DOI: 10.4103/sjmms.sjmms_601_24
Mohannad Alghamdi, Mohamed Almulhim, Qasem Almulihi, Yousef A Alhamaid, Mohammad Assiri, Abdullah Alzahid, Basmah Al Ghanim, Lama Albaish, Lama Alkhunaizi, Shahad Alali, Layan Alshehri

Background: The use of morphine in managing vaso-occlusive crisis (VOC) in patients with sickle cell disease (SCD) can result in significant side effects. Nalbuphine, a mixed agonist-antagonist opioid, may offer an alternative with fewer complications.

Objective: To compare the efficacy and safety of nalbuphine and morphine in pain management among adult SCD patients presenting with VOC.

Methods: This retrospective study included adult patients with SCD treated at King Fahad Hospital, Hofuf, Saudi Arabia, between 2019 and 2023. Patients were classified into two groups (receiving morphine and nalbuphine). Pain levels were assessed using the Visual Analog Scale (VAS) at baseline, 1-h, 6-h, and 24-h post-administration. Additional outcomes included the need for rescue medication and discharge rates from the emergency department.

Results: A total of 234 patients were included (morphine: 120; nalbuphine: 114). The mean age of the cohort was 30.5 ± 8.7 years, and 63.8% were female. Baseline laboratory data indicated mean hemoglobin of 8.5 g/dL and elevated lactate dehydrogenase (576.9 U/L). At 6 h, 10% and 20% of patients on morphine and nalbuphine, respectively, reported no pain (P = 0.013). At 24 h, 30% and 40% of patients on nalbuphine and 15% and 25% on morphine experienced no pain and mild pain, respectively (P = 0.00002). Nalbuphine patients required less rescue medication (41% vs. 59%, P = 0.009) and had higher discharge rates from the emergency department (70% vs. 46%, P = 0.0003). No significant difference was found in the incidence of acute chest syndrome or ICU admissions between the two groups.

Conclusion: Nalbuphine can be a potential alternative for vaso-occlusive crisis pain management in sickle cell disease patients, as it demonstrated superior efficacy compared with morphine, especially at later time points, with reduced need for rescue medication and earlier discharge.

背景:使用吗啡治疗镰状细胞病(SCD)患者的血管闭塞危象(VOC)可能导致明显的副作用。纳布芬,一种混合激动剂-拮抗剂阿片类药物,可能是一种并发症较少的选择。目的:比较纳布啡与吗啡治疗伴有VOC的成年SCD患者疼痛的疗效和安全性。方法:本回顾性研究纳入了2019年至2023年在沙特阿拉伯胡富夫法赫德国王医院治疗的成年SCD患者。患者分为两组(吗啡组和纳布啡组)。采用视觉模拟评分(VAS)在给药后基线、1小时、6小时和24小时评估疼痛水平。其他结果包括急救药物的需求和急诊科的出院率。结果:共纳入234例患者(吗啡120例,纳布啡114例)。该队列的平均年龄为30.5±8.7岁,女性占63.8%。基线实验室数据显示平均血红蛋白为8.5 g/dL,乳酸脱氢酶升高(576.9 U/L)。6小时时,分别有10%和20%使用吗啡和纳布啡的患者报告无疼痛(P = 0.013)。24 h时,纳布啡组30%和40%的患者无疼痛感,吗啡组15%和25%的患者有轻微疼痛感(P = 0.00002)。使用纳布芬的患者需要较少的抢救药物(41%对59%,P = 0.009),急诊科的出院率更高(70%对46%,P = 0.0003)。两组急性胸综合征发生率及ICU入院率无显著差异。结论:纳布啡可作为镰状细胞病患者血管闭塞性危重疼痛治疗的潜在替代方案,与吗啡相比,其疗效优于吗啡,特别是在较晚的时间点,减少了对抢救药物的需求,提前出院。
{"title":"Nalbuphine as a Potential Alternative to Morphine in Sickle Cell Disease Patients with Vaso-occlusive Crisis: A Retrospective Cohort Study.","authors":"Mohannad Alghamdi, Mohamed Almulhim, Qasem Almulihi, Yousef A Alhamaid, Mohammad Assiri, Abdullah Alzahid, Basmah Al Ghanim, Lama Albaish, Lama Alkhunaizi, Shahad Alali, Layan Alshehri","doi":"10.4103/sjmms.sjmms_601_24","DOIUrl":"10.4103/sjmms.sjmms_601_24","url":null,"abstract":"<p><strong>Background: </strong>The use of morphine in managing vaso-occlusive crisis (VOC) in patients with sickle cell disease (SCD) can result in significant side effects. Nalbuphine, a mixed agonist-antagonist opioid, may offer an alternative with fewer complications.</p><p><strong>Objective: </strong>To compare the efficacy and safety of nalbuphine and morphine in pain management among adult SCD patients presenting with VOC.</p><p><strong>Methods: </strong>This retrospective study included adult patients with SCD treated at King Fahad Hospital, Hofuf, Saudi Arabia, between 2019 and 2023. Patients were classified into two groups (receiving morphine and nalbuphine). Pain levels were assessed using the Visual Analog Scale (VAS) at baseline, 1-h, 6-h, and 24-h post-administration. Additional outcomes included the need for rescue medication and discharge rates from the emergency department.</p><p><strong>Results: </strong>A total of 234 patients were included (morphine: 120; nalbuphine: 114). The mean age of the cohort was 30.5 ± 8.7 years, and 63.8% were female. Baseline laboratory data indicated mean hemoglobin of 8.5 g/dL and elevated lactate dehydrogenase (576.9 U/L). At 6 h, 10% and 20% of patients on morphine and nalbuphine, respectively, reported no pain (<i>P</i> = 0.013). At 24 h, 30% and 40% of patients on nalbuphine and 15% and 25% on morphine experienced no pain and mild pain, respectively (<i>P</i> = 0.00002). Nalbuphine patients required less rescue medication (41% vs. 59%, <i>P</i> = 0.009) and had higher discharge rates from the emergency department (70% vs. 46%, <i>P</i> = 0.0003). No significant difference was found in the incidence of acute chest syndrome or ICU admissions between the two groups.</p><p><strong>Conclusion: </strong>Nalbuphine can be a potential alternative for vaso-occlusive crisis pain management in sickle cell disease patients, as it demonstrated superior efficacy compared with morphine, especially at later time points, with reduced need for rescue medication and earlier discharge.</p>","PeriodicalId":21442,"journal":{"name":"Saudi Journal of Medicine & Medical Sciences","volume":"13 3","pages":"181-188"},"PeriodicalIF":1.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12366906/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144966978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of Biological Therapy on Fatigue, Functional Status, and Health-Related Quality of Life in Rheumatoid Arthritis Patients: Results from Real-Life Practice. 生物疗法对类风湿关节炎患者疲劳、功能状态和健康相关生活质量的影响:来自现实生活实践的结果
IF 1.5 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-07-01 Epub Date: 2025-07-14 DOI: 10.4103/sjmms.sjmms_747_24
Samar Tharwat, Fatma Hamdy, Enas S Zahran, Abderahman Mohamed Elsayed, Mohammed Kamal Nassar

Background: Rheumatoid arthritis (RA) is an autoimmune inflammatory condition that adversely affects health-related quality of life (HRQoL) by causing joint damage, pain, functional impairment, and fatigue.

Objectives: The aim of this study was to assess the impact of biological disease-modifying antirheumatic drugs (bDMARDs) on fatigue, functional disability, and HRQoL in an Egyptian cohort with RA.

Methods: This observational analytical prospective cohort study included RA patients who needed to start bDMARDs immediately after the enrolment visit at two Rheumatology and Immunology Units. Clinical, therapeutic, and laboratory data were assessed at baseline and 4 months after administration of bDMARDs, along with the Functional Assessment of Chronic Illness Therapy-Fatigue 13 items, Health Assessment Questionnaire Disability Index (HAQ-DI), and Short Form-12 Health Survey (SF-12) questionnaires.

Results: A total of 85 patients with RA were included (mean age: 41.7 years). Most of the participants were female (87.1%). The most commonly administered bDMARDs were adalimumab (n = 26), golimumab (24), and etanercept (15). After bDMARD administration, there was significant improvement in the severity of fatigue (P <0.001, 95% CI: 14.59, 20.29) and median HAQ-DI scores (from 1.68 to 0.68; P <0.001, 95% CI: -1.06, -0.92). The number of patients with severe to very severe disability decreased significantly from 29 at baseline to 4 after 4 months after administration of bDMARDs (P <0.001). Additionally, the SF-12 domains showed significantly better scores after 4 months compared with baseline.

Conclusions: Administration of bDMARDs is associated with significant improvement in fatigue, functional disability, and health-related quality of life in patients with rheumatoid arthritis.

背景:类风湿关节炎(RA)是一种自身免疫性炎症,通过引起关节损伤、疼痛、功能损害和疲劳,对健康相关生活质量(HRQoL)产生不利影响。目的:本研究的目的是评估生物疾病改善抗风湿药物(bDMARDs)对埃及RA患者的疲劳、功能残疾和HRQoL的影响。方法:这项观察性分析性前瞻性队列研究纳入了在两个风湿病和免疫学单位就诊后需要立即开始bDMARDs的RA患者。临床、治疗和实验室数据在基线和服用bDMARDs后4个月进行评估,同时评估慢性疾病治疗-疲劳功能评估13项、健康评估问卷残疾指数(HAQ-DI)和简短表格-12健康调查(SF-12)问卷。结果:共纳入85例RA患者(平均年龄:41.7岁)。参与者以女性居多(87.1%)。最常用的bdmard是阿达木单抗(26例)、戈利木单抗(24例)和依那西普(15例)。结论:bDMARD治疗与类风湿关节炎患者的疲劳、功能残疾和健康相关生活质量的显著改善相关。
{"title":"Impact of Biological Therapy on Fatigue, Functional Status, and Health-Related Quality of Life in Rheumatoid Arthritis Patients: Results from Real-Life Practice.","authors":"Samar Tharwat, Fatma Hamdy, Enas S Zahran, Abderahman Mohamed Elsayed, Mohammed Kamal Nassar","doi":"10.4103/sjmms.sjmms_747_24","DOIUrl":"10.4103/sjmms.sjmms_747_24","url":null,"abstract":"<p><strong>Background: </strong>Rheumatoid arthritis (RA) is an autoimmune inflammatory condition that adversely affects health-related quality of life (HRQoL) by causing joint damage, pain, functional impairment, and fatigue.</p><p><strong>Objectives: </strong>The aim of this study was to assess the impact of biological disease-modifying antirheumatic drugs (bDMARDs) on fatigue, functional disability, and HRQoL in an Egyptian cohort with RA.</p><p><strong>Methods: </strong>This observational analytical prospective cohort study included RA patients who needed to start bDMARDs immediately after the enrolment visit at two Rheumatology and Immunology Units. Clinical, therapeutic, and laboratory data were assessed at baseline and 4 months after administration of bDMARDs, along with the Functional Assessment of Chronic Illness Therapy-Fatigue 13 items, Health Assessment Questionnaire Disability Index (HAQ-DI), and Short Form-12 Health Survey (SF-12) questionnaires.</p><p><strong>Results: </strong>A total of 85 patients with RA were included (mean age: 41.7 years). Most of the participants were female (87.1%). The most commonly administered bDMARDs were adalimumab (<i>n</i> = 26), golimumab (24), and etanercept (15). After bDMARD administration, there was significant improvement in the severity of fatigue (<i>P</i> <0.001, 95% CI: 14.59, 20.29) and median HAQ-DI scores (from 1.68 to 0.68; <i>P</i> <0.001, 95% CI: -1.06, -0.92). The number of patients with severe to very severe disability decreased significantly from 29 at baseline to 4 after 4 months after administration of bDMARDs (<i>P</i> <0.001). Additionally, the SF-12 domains showed significantly better scores after 4 months compared with baseline.</p><p><strong>Conclusions: </strong>Administration of bDMARDs is associated with significant improvement in fatigue, functional disability, and health-related quality of life in patients with rheumatoid arthritis.</p>","PeriodicalId":21442,"journal":{"name":"Saudi Journal of Medicine & Medical Sciences","volume":"13 3","pages":"189-196"},"PeriodicalIF":1.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12366905/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144966916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Survival and Outcome of Patients with Diffuse Large B-cell Lymphoma According to the Central Nervous System-International Prognostic Index. 根据中枢神经系统-国际预后指数,弥漫性大b细胞淋巴瘤患者的生存和预后。
IF 1.5 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-07-01 Epub Date: 2025-07-14 DOI: 10.4103/sjmms.sjmms_654_24
Musa Fares Alzahrani, Thamer Basahih, Ghazi Alotaibi, Sarah Sewaralthahab, Fatimah Alshalati, Ibrahim Alrumaih, Kazi Nur Asfina, Ahmed Gamal, Farjah Algahtani, Aamer Aleem

Background: Diffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin lymphoma. Several prognostic scores exist in DLBCL, including the International Prognostic Index (IPI). More recently, a modification of the IPI that estimates the risk of progression to the central nervous system (CNS-IPI) was published. Whether the CNS-IPI index is sufficient to prognosticate DLBCL survival is yet untested.

Objectives: We aim to describe the outcomes of DLBCL patients based on CNS-IPI risk groups.

Methods: We retrospectively reviewed all DLBCL cases diagnosed from January 2015 until April 2022 at an academic tertiary hospital in Riyadh, Saudi Arabia. CNS-IPI was calculated at the time of diagnosis. The outcomes were compared between two CNS-IPI risk categories: low and intermediate/high-risk groups. Logrank method was used to calculate P value, and Kaplan-Meier method to estimate survival.

Results: A total of 136 patients were included (median age: 56.5 years), of which 38 (28%) died: 5 in the low-risk group and 33 in the intermediate/high-risk group. Low-risk and intermediate/high-risk CNS-IPI were found in 41 (30%) and 95 (70%) patients, respectively. The median survival in the low-risk and intermediate/high-risk CNS-IPI groups was 66 months [95% CI: 60-not-reached (NR)] and NR (95% CI: 24-NR) (P = 0.007), respectively. Only seven (5%) patients developed progression to the CNS, of which 6 (86%) were in the intermediate/high-risk group.

Conclusion: The risk of progression to the central nervous system was moderate in our diffuse large B-cell lymphoma population. Patients with intermediate/high-risk CNS-IPI had worse survival compared with low-risk patients. The CNS-IPI was found to a good model to not only estimate the risk of disease progression to the central nervous system but also overall survival.

背景:弥漫性大b细胞淋巴瘤(DLBCL)是最常见的非霍奇金淋巴瘤类型。DLBCL中存在几种预后评分,包括国际预后指数(IPI)。最近,对IPI进行了修改,用于估计中枢神经系统进展的风险(CNS-IPI)。CNS-IPI指数是否足以预测DLBCL的生存尚未得到检验。目的:我们的目的是描述基于CNS-IPI风险组的DLBCL患者的预后。方法:我们回顾性分析了沙特阿拉伯利雅得一家三级医院2015年1月至2022年4月诊断的所有DLBCL病例。在诊断时计算CNS-IPI。比较两种CNS-IPI风险类别:低和中/高风险组的结果。采用Logrank法计算P值,Kaplan-Meier法估计生存率。结果:共纳入136例患者(中位年龄:56.5岁),其中38例(28%)死亡:低危组5例,中高危组33例。低危和中/高危CNS-IPI患者分别为41例(30%)和95例(70%)。低危和中/高危CNS-IPI组的中位生存期分别为66个月[95% CI: 60-未达到(NR)]和NR (95% CI: 24-NR) (P = 0.007)。只有7例(5%)患者进展到中枢神经系统,其中6例(86%)属于中/高危组。结论:弥漫性大b细胞淋巴瘤患者进展到中枢神经系统的风险中等。中/高危CNS-IPI患者的生存率较低危患者差。发现CNS-IPI不仅是估计疾病进展到中枢神经系统的风险,而且是估计总体生存的良好模型。
{"title":"Survival and Outcome of Patients with Diffuse Large B-cell Lymphoma According to the Central Nervous System-International Prognostic Index.","authors":"Musa Fares Alzahrani, Thamer Basahih, Ghazi Alotaibi, Sarah Sewaralthahab, Fatimah Alshalati, Ibrahim Alrumaih, Kazi Nur Asfina, Ahmed Gamal, Farjah Algahtani, Aamer Aleem","doi":"10.4103/sjmms.sjmms_654_24","DOIUrl":"10.4103/sjmms.sjmms_654_24","url":null,"abstract":"<p><strong>Background: </strong>Diffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin lymphoma. Several prognostic scores exist in DLBCL, including the International Prognostic Index (IPI). More recently, a modification of the IPI that estimates the risk of progression to the central nervous system (CNS-IPI) was published. Whether the CNS-IPI index is sufficient to prognosticate DLBCL survival is yet untested.</p><p><strong>Objectives: </strong>We aim to describe the outcomes of DLBCL patients based on CNS-IPI risk groups.</p><p><strong>Methods: </strong>We retrospectively reviewed all DLBCL cases diagnosed from January 2015 until April 2022 at an academic tertiary hospital in Riyadh, Saudi Arabia. CNS-IPI was calculated at the time of diagnosis. The outcomes were compared between two CNS-IPI risk categories: low and intermediate/high-risk groups. Logrank method was used to calculate <i>P</i> value, and Kaplan-Meier method to estimate survival.</p><p><strong>Results: </strong>A total of 136 patients were included (median age: 56.5 years), of which 38 (28%) died: 5 in the low-risk group and 33 in the intermediate/high-risk group. Low-risk and intermediate/high-risk CNS-IPI were found in 41 (30%) and 95 (70%) patients, respectively. The median survival in the low-risk and intermediate/high-risk CNS-IPI groups was 66 months [95% CI: 60-not-reached (NR)] and NR (95% CI: 24-NR) (<i>P</i> = 0.007), respectively. Only seven (5%) patients developed progression to the CNS, of which 6 (86%) were in the intermediate/high-risk group.</p><p><strong>Conclusion: </strong>The risk of progression to the central nervous system was moderate in our diffuse large B-cell lymphoma population. Patients with intermediate/high-risk CNS-IPI had worse survival compared with low-risk patients. The CNS-IPI was found to a good model to not only estimate the risk of disease progression to the central nervous system but also overall survival.</p>","PeriodicalId":21442,"journal":{"name":"Saudi Journal of Medicine & Medical Sciences","volume":"13 3","pages":"205-209"},"PeriodicalIF":1.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12366903/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144966962","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prevalence and Predictors of Common Sleep Disorders among the Elderly in a Major Family Practice Center in Saudi Arabia. 沙特阿拉伯主要家庭实践中心老年人常见睡眠障碍的患病率和预测因素
IF 1.5 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-07-01 Epub Date: 2025-07-14 DOI: 10.4103/sjmms.sjmms_16_25
Ali I AlHaqwi, Hamdan H Al-Jahdali, Mouath A Alturaymi, Fahad K Alrzouq, Khalid M Alduraibi, Fahad S Alhamad, Yazeed S Almohaimeed, Mohammed Saeed Aljaizani, Mostafa A Abolfotouh

Background: Sleep disorders in the geriatric age group in Saudi Arabia are not adequately studied.

Objective: To estimate the prevalence of insomnia, excessive daytime sleepiness (EDS), and obstructive sleep apnea (OSA) among adults aged ≥60 years and to identify the predictors of these sleep disorders.

Methods: A cross-sectional study was conducted on 171 participants aged ≥60 years in a major family practice center in Riyadh, Saudi Arabia, using a self-administered questionnaire composed of previously validated Arabic versions of the Insomnia Severity Index (ISI), Epworth Sleepiness Scale (ESS), and Berlin Questionnaire (BQ). Data on demographic characteristics, lifestyles, and comorbidities were collected.

Results: The prevalence of insomnia was 29.2% (95% CI: 22.6%-36.7%). The majority had severe EDS (77.8%, 95% CI: 70.8%-83.8%), and 22.2% (95% CI: 16.2%-29.2%) were considered at high risk for OSA. Gastroesophageal reflux disease was a significant risk factor for insomnia (OR = 5.72, 95% CI: 2.06-15.87, P = 0.001), while being married was significantly associated with a lower prevalence (OR = 0.18, 95% CI: 0.06-0.54, P = 0.002). Diabetes mellitus was significantly associated with a lower prevalence of EDS (OR = 0.08, 95% CI: 0.01-0.65, P = 0.018). Significant predictors of OSA were obesity (OR = 3.71, 95% CI: 1.34-10.29, P = 0.012) and hypertension (OR = 24.6, 95% CI: 4.35-139.27, P <0.001).

Conclusions: This study showed alarming levels of sleep disorders among the elderly in Riyadh, Saudi Arabia. Diabetes mellitus was significantly associated with a lower prevalence of excessive daytime sleepiness, while obesity and hypertension were significant predictors of obstructive sleep disorder.

背景:沙特阿拉伯老年年龄组的睡眠障碍尚未得到充分研究。目的:估计60岁以上成年人中失眠、日间嗜睡(EDS)和阻塞性睡眠呼吸暂停(OSA)的患病率,并确定这些睡眠障碍的预测因素。方法:对沙特阿拉伯利雅得一家主要家庭医疗中心的171名年龄≥60岁的参与者进行横断研究,使用由先前验证的阿拉伯语版失眠严重程度指数(ISI)、Epworth嗜睡量表(ESS)和柏林问卷(BQ)组成的自我管理问卷。收集了人口统计学特征、生活方式和合并症的数据。结果:失眠症患病率为29.2% (95% CI: 22.6% ~ 36.7%)。大多数患者有严重EDS (77.8%, 95% CI: 70.8%-83.8%), 22.2% (95% CI: 16.2%-29.2%)被认为是OSA的高危人群。胃食管反流病是失眠的重要危险因素(OR = 5.72, 95% CI: 2.06-15.87, P = 0.001),而已婚与较低的患病率显著相关(OR = 0.18, 95% CI: 0.06-0.54, P = 0.002)。糖尿病与较低的EDS患病率显著相关(OR = 0.08, 95% CI: 0.01-0.65, P = 0.018)。阻塞性睡眠呼吸暂停的显著预测因子为肥胖(OR = 3.71, 95% CI: 1.34-10.29, P = 0.012)和高血压(OR = 24.6, 95% CI: 4.35-139.27, P)。结论:本研究显示沙特阿拉伯利雅得老年人的睡眠障碍水平令人担忧。糖尿病与较低的日间过度嗜睡发生率显著相关,而肥胖和高血压是阻塞性睡眠障碍的显著预测因子。
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引用次数: 0
Allergic Bronchopulmonary Aspergillosis Misdiagnosed as Non-resolving Pneumonia: A Case Report. 过敏性支气管肺曲霉病误诊为非溶解性肺炎1例。
IF 1.5 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-07-01 Epub Date: 2025-07-14 DOI: 10.4103/sjmms.sjmms_28_25
Reem Alsowayan

Allergic bronchopulmonary aspergillosis (ABPA) is a hypersensitivity reaction triggered by Aspergillus fumigatus colonization of the airways that primarily affects immunocompetent individuals, particularly those with asthma. ABPA can often be misdiagnosed as severe asthma or non-resolving pneumonia, leading to delays in appropriate management. Early recognition of ABPA is crucial to prevent disease progression and unnecessary antibiotic use. We report a case of a 28-year-old female with a long-standing history of poorly controlled asthma who presented with fever, productive cough, and radiographic findings initially suggestive of non-resolving pneumonia. Despite receiving multiple courses of antibiotics, her symptoms persisted. Further investigations, including elevated total serum IgE levels, Aspergillus-specific IgE, eosinophilia, and negative mycobacterial cultures, confirmed a diagnosis of ABPA. The patient was successfully treated with systemic corticosteroids (prednisone) and itraconazole, leading to significant clinical and radiological improvement over 2 months. Her IgE levels markedly decreased, supporting resolution of the hypersensitivity reaction. This case underscores the importance of recognizing ABPA in patients with recurrent asthma exacerbations and unexplained pulmonary symptoms. Given the potential for misdiagnosis as pneumonia, clinicians should maintain a high index of suspicion for ABPA, particularly in cases of non-resolving pneumonia where antibiotic therapy fails to achieve improvement.

过敏性支气管肺曲霉病(ABPA)是一种由烟曲霉定殖气道引起的超敏反应,主要影响免疫能力强的个体,特别是哮喘患者。ABPA常被误诊为严重哮喘或非缓解性肺炎,导致适当治疗的延误。早期识别ABPA对于预防疾病进展和不必要的抗生素使用至关重要。我们报告一例28岁的女性患者,她有长期控制不佳的哮喘病史,她表现为发烧,咳嗽,放射检查结果最初提示非溶解性肺炎。尽管接受了多个疗程的抗生素治疗,她的症状仍然存在。进一步的调查,包括血清总IgE水平升高、曲霉菌特异性IgE、嗜酸性粒细胞增多和阴性分枝杆菌培养,证实了ABPA的诊断。患者成功接受全身皮质类固醇(强的松)和伊曲康唑治疗,2个月后临床和放射学均有显著改善。她的IgE水平明显下降,支持超敏反应的解决。本病例强调了在哮喘反复发作和不明原因肺部症状患者中识别ABPA的重要性。鉴于有可能被误诊为肺炎,临床医生应保持对ABPA的高度怀疑,特别是在抗生素治疗未能改善的非解决性肺炎的情况下。
{"title":"Allergic Bronchopulmonary Aspergillosis Misdiagnosed as Non-resolving Pneumonia: A Case Report.","authors":"Reem Alsowayan","doi":"10.4103/sjmms.sjmms_28_25","DOIUrl":"10.4103/sjmms.sjmms_28_25","url":null,"abstract":"<p><p>Allergic bronchopulmonary aspergillosis (ABPA) is a hypersensitivity reaction triggered by <i>Aspergillus fumigatus</i> colonization of the airways that primarily affects immunocompetent individuals, particularly those with asthma. ABPA can often be misdiagnosed as severe asthma or non-resolving pneumonia, leading to delays in appropriate management. Early recognition of ABPA is crucial to prevent disease progression and unnecessary antibiotic use. We report a case of a 28-year-old female with a long-standing history of poorly controlled asthma who presented with fever, productive cough, and radiographic findings initially suggestive of non-resolving pneumonia. Despite receiving multiple courses of antibiotics, her symptoms persisted. Further investigations, including elevated total serum IgE levels, Aspergillus-specific IgE, eosinophilia, and negative mycobacterial cultures, confirmed a diagnosis of ABPA. The patient was successfully treated with systemic corticosteroids (prednisone) and itraconazole, leading to significant clinical and radiological improvement over 2 months. Her IgE levels markedly decreased, supporting resolution of the hypersensitivity reaction. This case underscores the importance of recognizing ABPA in patients with recurrent asthma exacerbations and unexplained pulmonary symptoms. Given the potential for misdiagnosis as pneumonia, clinicians should maintain a high index of suspicion for ABPA, particularly in cases of non-resolving pneumonia where antibiotic therapy fails to achieve improvement.</p>","PeriodicalId":21442,"journal":{"name":"Saudi Journal of Medicine & Medical Sciences","volume":"13 3","pages":"231-233"},"PeriodicalIF":1.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12366901/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144966855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correlation between Neurotransmitter Transporter Gene Variants and Childhood Autism Spectrum Disorder: A Case-control Study. 神经递质转运基因变异与儿童自闭症谱系障碍的相关性:一项病例对照研究。
IF 1.5 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-07-01 Epub Date: 2025-07-14 DOI: 10.4103/sjmms.sjmms_106_25
Chen Shen, Limeng Shen, Fei Qu, Chenye He, Hong Yu, Zengyu Zhang, Jun Liu

Objective: This case-control study aimed to determine the correlation between single nucleotide polymorphisms (SNPs) in the neurotransmitter transporter genes SLC6A3 and SLC6A4 and childhood autism spectrum disorder (ASD), as well as the severity of the disease.

Patients and methods: Children with ASD and age- and sex-matched healthy controls were recruited from a hospital and schools, respectively. Seven SNPs in the SLC6A3 gene and three SNPs in the SLC6A4 gene were analyzed in blood cell DNA using the TaqMan probe approach. The severity of the disease was evaluated using the Childhood Autism Rating Scale (CARS).

Results: A total of 249 children with ASD and 343 controls were included. The genotype frequencies of the examined SNPs were not correlated with childhood ASD. Only the T allele of the SNP rs140700 displayed a non-significant association with a reduced risk of childhood ASD (OR = 0.6, 95% CI: 0.4-1.0, P = 0.0517). Interestingly, the C allele of rs140701 was significantly correlated with lower disease severity (OR = 0.6, 95% CI: 0.4-0.9, P = 0.0093). Additionally, the genotype of rs27072 was significantly associated with the score of the body use domain of CARS; however, no examined SNPs showed a significant association with the overall score.

Conclusion: Certain SNPs on neurotransmitter transporter SLC6A3 and SLC6A4 genes are correlated with the severity of childhood autism spectrum disorder but not with the risk of developing the disease. Further studies are needed to explore the underlying mechanisms and potential clinical applications.

目的:本病例对照研究旨在确定神经递质转运基因SLC6A3和SLC6A4单核苷酸多态性(snp)与儿童自闭症谱系障碍(ASD)及其严重程度的相关性。患者和方法:分别从医院和学校招募ASD患儿和年龄和性别匹配的健康对照。使用TaqMan探针方法分析了血细胞DNA中SLC6A3基因的7个snp和SLC6A4基因的3个snp。使用儿童自闭症评定量表(CARS)评估疾病的严重程度。结果:共纳入249例ASD患儿和343例对照组。所检测的snp基因型频率与儿童ASD无关。只有SNP rs140700的T等位基因显示与儿童ASD风险降低无显著关联(OR = 0.6, 95% CI: 0.4-1.0, P = 0.0517)。有趣的是,rs140701的C等位基因与较低的疾病严重程度显著相关(OR = 0.6, 95% CI: 0.4-0.9, P = 0.0093)。rs27072基因型与CARS机体使用域得分显著相关;然而,没有检测到snp与总体得分有显著关联。结论:神经递质转运体SLC6A3和SLC6A4基因的某些snp与儿童自闭症谱系障碍的严重程度相关,但与发病风险无关。需要进一步的研究来探索潜在的机制和潜在的临床应用。
{"title":"Correlation between Neurotransmitter Transporter Gene Variants and Childhood Autism Spectrum Disorder: A Case-control Study.","authors":"Chen Shen, Limeng Shen, Fei Qu, Chenye He, Hong Yu, Zengyu Zhang, Jun Liu","doi":"10.4103/sjmms.sjmms_106_25","DOIUrl":"10.4103/sjmms.sjmms_106_25","url":null,"abstract":"<p><strong>Objective: </strong>This case-control study aimed to determine the correlation between single nucleotide polymorphisms (SNPs) in the neurotransmitter transporter genes <i>SLC6A3</i> and <i>SLC6A4</i> and childhood autism spectrum disorder (ASD), as well as the severity of the disease.</p><p><strong>Patients and methods: </strong>Children with ASD and age- and sex-matched healthy controls were recruited from a hospital and schools, respectively. Seven SNPs in the <i>SLC6A3</i> gene and three SNPs in the <i>SLC6A4</i> gene were analyzed in blood cell DNA using the TaqMan probe approach. The severity of the disease was evaluated using the Childhood Autism Rating Scale (CARS).</p><p><strong>Results: </strong>A total of 249 children with ASD and 343 controls were included. The genotype frequencies of the examined SNPs were not correlated with childhood ASD. Only the T allele of the SNP rs140700 displayed a non-significant association with a reduced risk of childhood ASD (OR = 0.6, 95% CI: 0.4-1.0, <i>P</i> = 0.0517). Interestingly, the C allele of rs140701 was significantly correlated with lower disease severity (OR = 0.6, 95% CI: 0.4-0.9, <i>P</i> = 0.0093). Additionally, the genotype of rs27072 was significantly associated with the score of the body use domain of CARS; however, no examined SNPs showed a significant association with the overall score.</p><p><strong>Conclusion: </strong>Certain SNPs on neurotransmitter transporter <i>SLC6A3</i> and <i>SLC6A4</i> genes are correlated with the severity of childhood autism spectrum disorder but not with the risk of developing the disease. Further studies are needed to explore the underlying mechanisms and potential clinical applications.</p>","PeriodicalId":21442,"journal":{"name":"Saudi Journal of Medicine & Medical Sciences","volume":"13 3","pages":"173-180"},"PeriodicalIF":1.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12366910/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144966897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Saudi Journal of Medicine & Medical Sciences
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