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Genotypes and Phenotypes of Arab Patients with Familial Mediterranean Fever in North Jordan 约旦北部阿拉伯家族性地中海热患者的基因型和表型
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-01-02 DOI: 10.3329/bjms.v23i1.70674
K. Alawneh, S. Jaradat, Marya Obeidat, Tariq Kewan, D. Zahran, D. Alawneh, N. Sweiss
Objectives: Familial Mediterranean Fever (FMF) is an autosomal-recessive disorder caused by mutations in MEFV gene. Hundreds of mutations have been described in patients with FMF. The aim of this study was to analyze the common genotypes of Arab patients with FMF from Jordan and to establish genotypephenotype correlation patterns. Methods: This cross-sectional retrospective study was performed in a tertiary hospital in the north of Jordan. A total of 123 patients with FMF were recruited from the rheumatology outpatient clinic at King Abdullah University Hospital. Patients were diagnosed according to Tel-Hashomer criteria and a carrier of at least one previously identified MEFV gene mutation. Demographics and clinical manifestations were recorded. Results: Mean age at diagnosis was 17.49 years and M:F ratio was 1.05:1. The following mutations were common among our patients: R202Q (41.4%), M694V (22.1%), E148Q (10.3%), V726A (11.3%), M680I (5.3%), and M694I (3.7%). Among them 26% were homozygous, 11% were compound homozygous, 26% heterozygous, 42% were compound heterozygous, and 18% were other complex genotype including homozygosity and heterozygosity of more than one mutation. As for genotype-phenotype correlation, 65% of the patients with skin rash had R202Q mutation, while M694V mutation was associated with abdominal and chest pain. Amyloidosis correlated most with the M694I mutation (66.7%). Conclusion: The results confirm the frequency of the previously and commonly identified mutations and highlight the association of R202Q polymorphism with skin rash phenotype among adult Jordanian FMF patients. Additionally, both M694V and M694I mutations were associated with different clinical presentations. Bangladesh Journal of Medical Science Vol. 23 No. 01 January’24 Page : 54-62
目的:家族性地中海热(FMF)是一种由 MEFV 基因突变引起的常染色体隐性遗传病。在 FMF 患者中已发现数百种基因突变。本研究旨在分析约旦阿拉伯 FMF 患者的常见基因型,并建立基因型与表型的相关模式。方法:这项横断面回顾性研究在约旦北部的一家三级医院进行。阿卜杜拉国王大学医院风湿病门诊共招募了 123 名 FMF 患者。患者均根据泰尔-哈霍默标准确诊,且至少携带一种之前已发现的 MEFV 基因突变。记录了患者的人口统计学特征和临床表现。结果:确诊时的平均年龄为 17.49 岁,男女比例为 1.05:1。患者中常见的基因突变如下R202Q(41.4%)、M694V(22.1%)、E148Q(10.3%)、V726A(11.3%)、M680I(5.3%)和M694I(3.7%)。其中 26% 为同型,11% 为复合同型,26% 为杂合,42% 为复合杂合,18% 为其他复杂基因型,包括同型和杂合多个突变。在基因型与表型的相关性方面,65%的皮疹患者有 R202Q 突变,而 M694V 突变则与腹痛和胸痛有关。淀粉样变性与 M694I 突变的相关性最大(66.7%)。结论研究结果证实了先前发现的常见突变的频率,并强调了约旦成年 FMF 患者中 R202Q 多态性与皮疹表型的关联。此外,M694V 和 M694I 突变与不同的临床表现有关。孟加拉国医学科学杂志》第 23 卷第 01 期 January'24 Page : 54-62
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引用次数: 0
One Anastomosis Gastric Bypass Surgery: Consequences Over Diabetic Parameters 单吻合胃旁路手术:对糖尿病参数的影响
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-01-02 DOI: 10.3329/bjms.v23i1.70666
Arya Singh, Rahnuma Ahmad, Susmita Sinha, Md. Ahsanul Haq, M. Narwaria, Ankur Sharma, Mainul Haque, Santosh Kumar, Nandita Sanghani
Introduction: Excessive weight gain in individuals leads to various metabolic disorders, such as diabetes mellitus, contributing to a further increase in body mass index (BMI). Thus, the patient enters a vicious cycle that leads to irreversible health damage. Bariatric surgery has displayed positive outcomes of weight loss with the return of BMI towards normal, which may reduce blood glucose levels to near normal. The remission of diabetes mellitus may be attributed to the reduction in inflammation, improvement of insulin resistance, lowering of peptide YY, and overall improved metabolic state of the body. Methods: One fifty patients, both female and male, in the age group of 20-60 years with grade II and grade III obesity having mean BMI of 45.63±6.54 (male) and 41.81± 5.93kg/m2 (female) were randomly selected for this study. Hemoglobin, Fasting Blood sugar (FBS), 2 hours postprandial blood sugar (PP2BS). Hemoglobin A1c (HbA1c) serum insulin was assessed at the visit, marked as a baseline, then again at the visit 3 months, and finally at the visit by the patient 6 months after bariatric surgery. Results: Hemoglobin level increased significantly from baseline at the 3rd-month post-surgery visit. FBS increased substantially from baseline at the 3rd-month postsurgery visit, which decreased considerably at the 6th-month visit following surgery. HbA1c showed a significant decrease in level from baseline following surgery. Conclusion: Improvement in BMI following bariatric surgery may have a positive impact on blood glucose levels in diabetic patients who may hope to see better management of their condition and may enjoy a better quality of life. Bangladesh Journal of Medical Science Vol. 23 No. 01 January’24 Page : 29-38
导言:体重增加过多会导致各种代谢紊乱,如糖尿病,并进一步增加体重指数(BMI)。因此,患者会进入一个恶性循环,导致不可逆转的健康损害。减肥手术在减轻体重、使体重指数恢复正常方面取得了积极成果,可将血糖水平降至接近正常。糖尿病的缓解可归因于炎症的减轻、胰岛素抵抗的改善、YY 肽的降低以及身体代谢状态的整体改善。研究方法随机选取 50 名 20-60 岁的 II 级和 III 级肥胖症患者(男女均有)进行研究,他们的平均体重指数分别为 45.63±6.54(男性)和 41.81±5.93kg/m2(女性)。血红蛋白、空腹血糖(FBS)、餐后 2 小时血糖(PP2BS)。血红蛋白 A1c (HbA1c) 血清胰岛素在患者就诊时进行评估,标记为基线,然后在就诊 3 个月时再次进行评估,最后在减肥手术 6 个月后由患者就诊时进行评估。结果显示术后第 3 个月就诊时,血红蛋白水平较基线有明显升高。在术后第 3 个月的随访中,FBS 从基线大幅上升,而在术后第 6 个月的随访中,FBS 又大幅下降。术后 HbA1c 水平较基线显著下降。结论减肥手术后体重指数的改善可能会对糖尿病患者的血糖水平产生积极影响,糖尿病患者有望得到更好的病情控制,并享受更好的生活质量。孟加拉国医学科学杂志》第 23 卷第 01 期 January'24 Page : 29-38
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引用次数: 0
Serum lipid profile among pediatric folk with idiopathic nephrotic syndrome: An Observational Study 特发性肾病综合征患儿的血清脂质状况:观察研究
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-01-02 DOI: 10.3329/bjms.v23i1.70671
Partha Kumar Chaudhuri, Akanksha Kumari, Ananya Ghosh, Basant Kumar, Pankaj Kumar, Shreya Gajjar, Md. Ahsanul Haq, Susmita Sinha, Mainul Haque, Santosh Kumar
Introduction: The most familiar kidney disease in children is nephrotic syndrome (NS), associated with dyslipidemia and causes various cardiovascular complications. Persistent hyperlipidemia can further raise difficulties of NS and relapse cases. Earlier diagnosis and appropriate intervention increase the possibility of saving other vital organs. Methods: An observational study was conducted with 85 children aged 2-15 years with a history of NS. The study group was divided into first NS and second-episode relapse cases. They were further subgrouped into Frequent Relapse NS (FRNS) and Infrequent Relapse NS (IFRNS). Fasting lipid profiles were performed among active sufferers with a follow-up after 4 weeks. Results: The male-to-female ratio was 1.93:1. In the first episode of NS, all lipid parameters were high in the acute phase and returned to normal during remission. In relapse cases, lipid parameters were significantly higher even in remission. Serum triglyceride and very low-density lipoprotein were significantly more elevated in the FRNS group than in the IFRNS. Low-density lipoprotein was increased considerably in FRNS. Mean high-density lipoprotein was also significantly lower in the FRNS group than in the IFRNS. Conclusion: Persistent hyperlipidemia is most typical among FRNS. Hyperlipidemia management is urgent to prevent among pediatric NS. Bangladesh Journal of Medical Science Vol. 23 No. 01 January’24 Page : 39-46
简介肾病综合征(NS)是人们最熟悉的儿童肾脏疾病,它与血脂异常有关,并导致各种心血管并发症。持续的高脂血症会进一步增加肾病综合征和复发病例的难度。早期诊断和适当干预可增加挽救其他重要器官的可能性。研究方法对 85 名 2-15 岁有 NS 病史的儿童进行观察研究。研究组分为首次 NS 和第二次复发病例。他们又被分为频繁复发的 NS(FRNS)和不频繁复发的 NS(IFRNS)。对活动期患者进行空腹血脂分析,4周后进行随访。结果显示男女比例为 1.93:1。在 NS 首次发病时,所有血脂参数在急性期均偏高,在缓解期恢复正常。在复发病例中,即使在缓解期,血脂参数也明显偏高。FRNS 组的血清甘油三酯和极低密度脂蛋白明显高于 IFRNS 组。FRNS 组的低密度脂蛋白明显升高。FRNS 组的平均高密度脂蛋白也明显低于 IFRNS 组。结论持续性高脂血症在 FRNS 中最为典型。预防小儿 NS 的高血脂症刻不容缓。孟加拉国医学科学杂志》第 23 卷第 01 期 January'24 Page : 39-46
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引用次数: 0
Essential Steps in Writing and Publishing a Scientific Research Paper 撰写和发表科学研究论文的基本步骤
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-01-02 DOI: 10.3329/bjms.v23i1.70663
R. Yousuf, Mushtahid Salam, Shaeri Jahra Amreen, Hasbullani Zakaria, J. Zainol, Abdus Salam, Abu Kholdun Al Mahmood
Abstract not available Bangladesh Journal of Medical Science Vol. 23 No. 01 January’24 Page : 12-17
摘要暂缺 孟加拉国医学杂志》第 23 卷第 01 期 January'24 Page : 12-17
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引用次数: 0
Human-on-Chip Technology: Current State and Future Challenges 片上人体技术:现状与未来挑战
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-01-02 DOI: 10.3329/bjms.v23i1.70657
Santosh Kumar, Namrata Dagli, Mainul Haque
Abstract not available Bangladesh Journal of Medical Science Vol. 23 No. 01 January’24 Page : 7-11
摘要暂缺 孟加拉国医学科学杂志 第 23 卷第 01 期 January'24 Page : 7-11
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引用次数: 0
Comparative in-vitro evaluation of ebastine tablets (10 mg) available in bangladesh 孟加拉国现有依巴斯汀片(10 毫克)的体外比较评估
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-01-02 DOI: 10.3329/bjms.v23i1.70673
S. Mimmi, Saqib Rahman, Prethula Areefin, Md. Shaki Mostaid, Md Ayman Siddique, Md Aminul Haque
Background: The symptoms of allergic responses, such as hay fever or urticaria, can be relieved with the use of ebastine, an efficient anti-allergic medication. Objective & Method: This study’s primary objective was to assess and contrast various quality control parameters, such as weight variation, % friability, hardness, disintegration time, dissolution profile, and potency, of the twelve different brands of Ebastine tablets that were readily available in Bangladesh in accordance with compendia procedures. It’s interesting to note that, according to various official requirements, all of the quality parameters indicated above were within acceptable bounds. Conclusion: Therefore, doctors can advise patients to use any of the Ebastine brands that are sold in Bangladesh. Bangladesh Journal of Medical Science Vol. 23 No. 01 January’24 Page : 47-53
背景:使用高效抗过敏药物依巴斯汀可缓解花粉热或荨麻疹等过敏反应症状。目的和方法:本研究的主要目的是根据药典程序,评估和对比各种质量控制参数,如重量变化、易碎性%、硬度、崩解时间、溶解度曲线和药效,这些参数是孟加拉国现售的 12 种不同品牌的依巴斯汀片剂的质量控制参数。值得注意的是,根据各种官方要求,上述所有质量参数都在可接受范围内。结论因此,医生可以建议患者使用在孟加拉国销售的任何品牌的依巴斯汀。孟加拉国医学科学杂志》第 23 卷第 01 期 24 年 1 月 第 47-53 页
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引用次数: 0
Bibliometric analysis and network visualization on Tuberous Sclerosis Complex 关于结节性硬化综合症的文献计量分析和网络可视化
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-01-02 DOI: 10.3329/bjms.v23i1.70664
Ninie Nadia Zulkipli, Idris Long, H. Wahab, T. H. Sasongko, A. H. Ahmad, Zahiruddin Othman, Aidi Ahmi, R. Zakaria
Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant multisystem disease resulting from hyperactivation of the mammalian target of rapamycin (mTOR) signaling pathway. This study aimed to measure the quantitative impact of publications in TSC. Materials and methods: We analysed TSC literature obtained from the Scopus database using Bibliometrix R Package and VOSviewer software. Annual publication trends, most productive and collaborative authors/institutions/ countries, most cited articles, most popular journals and author’s keywords were presented using standard bibliometric indicators. Results and discussion: A total of 5375 documents on TSC were published from 1960 to December 2020, with an increasing trend. The three primary contributing writers were Curatolo P, Kwiatkowski DJ, and Thiele EA, with the United States and its institutions being the largest contributor. The research identified two of the most referenced papers as TSC’s seminal pieces. The top journals that published TSC research were medical journals, namely Journal of Child Neurology, Epilepsia, and Pediatric Neurology. mTOR inhibitor, everolimus, sirolimus, mTORC1, mTOR pathway, autophagy, inflammation, infant, intellectual disability, white matter, TSC-associated neuropsychiatric disorders, TOSCA and quality of life were relatively newer author’s keywords and may indicate the future research hotspots in TSC research. Conclusion: Over the last few decades, TSC research has grown in importance, particularly in the field of clinical medicine. Therapeutic components targeting TSC-related pathways, the utilisation of TSC as disease models and long-term safety studies will be future research areas. Bangladesh Journal of Medical Science Vol. 23 No. 01 January’24 Page : 18-28
背景:结节性硬化综合征(TSC)是一种罕见的常染色体显性多系统疾病,由哺乳动物雷帕霉素靶标(mTOR)信号通路过度激活所致。本研究旨在衡量发表的论文对 TSC 的定量影响。材料与方法:我们使用 Bibliometrix R 软件包和 VOSviewer 软件分析了 Scopus 数据库中的 TSC 文献。使用标准文献计量学指标展示了年度发表趋势、最有成果和合作的作者/机构/国家、最常被引用的文章、最受欢迎的期刊和作者的关键词。结果与讨论从 1960 年到 2020 年 12 月,共发表了 5375 篇有关 TSC 的文献,且呈上升趋势。三位主要撰稿人分别是 Curatolo P、Kwiatkowski DJ 和 Thiele EA,其中美国及其机构的贡献最大。研究发现,两篇被引用最多的论文是 TSC 的开创性作品。mTOR抑制剂、依维莫司、西罗莫司、mTORC1、mTOR通路、自噬、炎症、婴儿、智力障碍、白质、TSC相关神经精神障碍、TOSCA和生活质量是相对较新的作者关键词,可能预示着TSC研究的未来研究热点。结论过去几十年来,TSC 研究的重要性与日俱增,尤其是在临床医学领域。针对 TSC 相关途径的治疗成分、利用 TSC 作为疾病模型以及长期安全性研究将是未来的研究领域。孟加拉国医学科学杂志》第 23 卷第 01 期 January'24 Page : 18-28
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引用次数: 0
In response to ‘Mastectomy under Local Anesthesia in Locally Advanced Breast Cancer in an Unfit Patient 回应 "在局部麻醉下对不适合的局部晚期乳腺癌患者进行乳房切除术
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-01-01 DOI: 10.3329/bjms.v23i1.70774
BM Munasinghe
Abstract not available Bangladesh Journal of Medical Science Vol. 23 No. 01 January’24 Page : 276-277
摘要暂缺 孟加拉国医学科学杂志 第 23 卷第 01 期 January'24 Page : 276-277
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引用次数: 0
Gallstone Ileus: Unfortunate Encounter 胆石性回肠炎:不幸的遭遇
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-01-01 DOI: 10.3329/bjms.v23i1.70762
Mohammad Zawawi Ya’acob, I. S. Mohamad, Leow Voon Meng, Maya Mazuwin Yahya, Nagarajan T Vellasamy
Gallstone disease is a common burden that affect worldwide that carry broad spectrum of its complications and severities. Gallstone ileus (GSI) remained the rare complication that arise form gallstone disease that mainly affected the elderly population. The mainstay of treatment for GSI is to relieve the small bowel obstruction by extraction of the impacted gallstone. Surgical options for GSI remained the long-standing arguments involve single-staged procedure (enterolithotomy, cholecystectomy and fistula repair) or twostaged procedure (enterolithotomy alone, and cholecystectomy with fistula repair later). We reported a case of a 76-year-old male who presented with symptoms of small bowel obstruction and computed tomography (CT) of abdomen confirmed the presence of calcified lesion at ileum with pneumobilia which was successfully managed with two-staged procedure. Bangladesh Journal of Medical Science Vol. 23 No. 01 January’24 Page : 272-275
胆石症是一种影响全球的常见疾病,其并发症和严重程度多种多样。胆石性回肠梗阻(GSI)是胆石症引起的罕见并发症,主要影响老年人群。GSI 的主要治疗方法是通过取出受影响的胆结石来缓解小肠梗阻。长期以来,GSI 的手术方案一直存在争议,包括单阶段手术(肠取石术、胆囊切除术和瘘管修补术)或两阶段手术(仅进行肠取石术,随后进行胆囊切除术和瘘管修补术)。我们报告了一例 76 岁男性患者的病例,他出现了小肠梗阻症状,腹部计算机断层扫描(CT)证实回肠存在钙化病变,并伴有积气,通过两阶段手术成功治愈。孟加拉国医学杂志》第 23 卷第 01 期 January'24 Page : 272-275
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引用次数: 0
Determining the effect of hypertension and diabetes following stroke in tertiary hospital, Aljouf, Saudi Arabia. 确定沙特阿拉伯 Aljouf 三级医院中风后高血压和糖尿病的影响。
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-01-01 DOI: 10.3329/bjms.v23i1.70714
Rehana Basri, Mubarak Alruwaili, Raed Alruwaili, B. Altaleb, Abdulrahman B. Almazyad, F. Alrayes, S. Albulayhid, Amer Abdulaziz Alharbi, Abdullah Qasem Alruwaili, B. Albilasi, Rehab Ali Alanazi, Hamasat Alsharari, A. N. Alruwaili
Background: Stroke is a common neurological disorder with a high prevalence. The aim of this study was to determine the risk factor, prevalence, and association of types of strokes among diabetes and hypertension patients. Methods: A retrospective study was conducted in King Abdul Aziz, Qurayyat, Sakaka, and Tubarjal hospitals among stroke patients including both sexes within the age > 40 years. Type of stroke was identified by brain computed tomography scans or magnetic resonance imaging and risk factors for stroke and other details were noted on a checklist. Results: Out of 226 stroke patients considered for the present study, in which 48% were males and 52% were females. All lived in the Aljouf region. Most of the patients had risk factors which included Hypertension 49 (21.68%), Diabetes Mellitus 44 (19.46%), Combined (Hypertension and diabetes) 111 (49.11%), and Hyperlipidemia 22 (9.75%). Stroke patients > 60 years of age group showed a higher prevalence of ischemic stroke (p=0.001). The combined risk factor group also showed more prevalence of ischemic stroke (49.11%). Conclusion: Patient having both risk factor Hypertension and diabetes mellitus were major association with ischemic stroke. Majority of the patients with ischemic stroke age at onset > 60 year and irrespectively affected both males and females were equally. Bangladesh Journal of Medical Science Vol. 23 No. 01 January’24 Page : 171-178
背景:中风是一种常见的神经系统疾病,发病率很高。本研究旨在确定糖尿病和高血压患者发生脑卒中的风险因素、患病率和类型关联。研究方法在阿卜杜勒-阿齐兹国王医院、Qurayyat 医院、Sakaka 医院和 Tubarjal 医院对年龄大于 40 岁的中风患者(包括男性和女性)进行了回顾性研究。通过脑计算机断层扫描或磁共振成像确定中风类型,并在核对表上记录中风的危险因素和其他细节。结果本研究共考虑了 226 名中风患者,其中 48% 为男性,52% 为女性。所有患者均居住在阿尔茹夫地区。大多数患者有风险因素,包括高血压 49 例(21.68%)、糖尿病 44 例(19.46%)、合并症(高血压和糖尿病)111 例(49.11%)和高脂血症 22 例(9.75%)。年龄大于 60 岁组的脑卒中患者缺血性脑卒中发病率更高(P=0.001)。综合危险因素组的缺血性中风发病率也更高(49.11%)。结论同时具有高血压和糖尿病这两种危险因素的患者与缺血性中风有很大关系。大多数缺血性中风患者的发病年龄大于 60 岁,男性和女性患者的发病年龄相同。孟加拉国医学杂志》第 23 卷第 01 期 January'24 Page : 171-178
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引用次数: 0
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Bangladesh Journal of Medical Science
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