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Evaluation of the Early Results of Percutaneous Ethanol Ablation in Patients with Primary Hyperparathyroidism 经皮乙醇消融治疗原发性甲状旁腺功能亢进早期疗效的评价
Q4 Medicine Pub Date : 2022-04-01 DOI: 10.2478/amb-2022-0001
I. Yankova, A. Shinkov, R. Kovatcheva
Abstract Percutaneous ethanol ablation (PEA) is an alternative non-surgical method for the treatment of patients with primary hyperparathyroidism (PHPT), suitable in cases with comorbidities and high surgical risk. The aim of the present study was to evaluate the results of PEA in patients with PHPT at the early stages of follow-up. Materials and methods: The study included 35 patients (30 women and 5 men, mean age 59.7 ± 12.4 years) with biochemical and hormonal data of PHPT and localized parathyroid adenoma (PTA) by ultrasound, nuclear scan, FNB with cytology and evaluation of PTH in the needle washout. All patients were at high surgical risk or refused surgical treatment. PEA was applied and changes in the PTA volume and calcium-phosphate metabolism were monitored at the third (M3) and sixth (M6) months after the procedure. Results: Normocalcaemia was achieved in 26 patients (74.3%) at M3 and persisted at M6 in 22 of them. A second course of PEA was administered in 11 patients with persistent hypercalcaemia at M3 and M6, respectively. Compared to the baseline, the mean PTA volume decreased significantly by 53% at M3 and 67% at M6 (p < 0.001). Side effects including local pain, edema and dysphonia were observed in 5 patients (14.3%). Conclusion: PEA is an efficient and safe treatment modality for the management of PHPT. A significant reduction in PTA volume and a normalization of serum calcium and PTH levels were observed at the early stages of follow-up.
经皮乙醇消融(PEA)是治疗原发性甲状旁腺功能亢进症(PHPT)的一种非手术治疗方法,适用于有合并症和手术风险高的患者。本研究的目的是评估PEA在PHPT患者随访早期的结果。材料与方法:本研究纳入35例患者(女性30例,男性5例,平均年龄59.7±12.4岁),经超声、核扫描、FNB带细胞学检查及针洗法评价PTH的生化和激素资料,诊断为PHPT和局限性甲状旁腺瘤(PTA)。所有患者手术风险高或拒绝手术治疗。应用PEA,在术后第3个月(M3)和第6个月(M6)监测PTA体积和磷酸钙代谢的变化。结果:26例患者(74.3%)在M3水平达到正常钙血症,22例患者在M6水平持续。11例持续高钙血症患者分别在M3和M6处接受第二疗程的PEA治疗。与基线相比,M3组平均PTA体积显著下降53%,M6组显著下降67% (p < 0.001)。5例(14.3%)出现局部疼痛、水肿、发音障碍等不良反应。结论:PEA是一种安全有效的治疗PHPT的方法。在随访早期观察到PTA体积显著减少,血清钙和甲状旁腺激素水平正常化。
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引用次数: 0
Comparative Evaluation of the Content of Antioxidant Polyphenolic Compounds in Selected Bulgarian Medicinal Plants 保加利亚药用植物中抗氧化多酚类化合物含量的比较评价
Q4 Medicine Pub Date : 2022-04-01 DOI: 10.2478/amb-2022-0005
S. Tsanova-Savova, S. Velikov, Slaveyka Stoimenova Paneva, P. Koleva, P. Nikolchova, D. Etugov, Z. Savova
Abstract Polyphenols are strong antioxidants of plant origin that exhibit protective role against the development of several chronic degenerative diseases. Quantitative data on the content of polyphenolic antioxidants in Bulgarian medicinal plants are sporadic and unsystematic. The aim of the study is to determine polyphenols content in series of extracts, infusions and decocts of selected Bulgarian medicinal plants and fruits and to compare their polyphenolic profile. Materials and Methods: In the present study 18 Bulgarian medicinal plants and fruits have been analyzed for Total Phenolic and Total Flavonoids content, along with HPLC analysis for their level of the individual flavonoids (+)-Catechin, (-)-Epicatechin and Rutin. Comparative evaluation of the content of antioxidant polyphenolic compounds was performed by hierarchical cluster analysis. The results show that infusions of Hawthorn (Crategus monogyna) flowers have the highest values of Total Phenolic and Total Flavonoids content, forming a separate Cluster in the analysis of the Agglomeration schedule coefficients. Within fruits, data for Total Phenolics and Total Flavonoids content are more homogenic as the cluster analysis shows distribution of 6 elements in a high mean value group. Elderberry (Sambicus nigra) flowers and fruits are the richest source of Rutin in the selected plants studied. Conclusion: In the present study new data for polyphenolic content in selected Bulgarian medicinal plants and fruits are presented and their degree of similarity in methanolic extracts, infusions and decocts have been assessed in order to provide new data for development of effective antioxidant medicinal plant compositions.
摘要多酚是植物来源的强抗氧化剂,对几种慢性退行性疾病的发展具有保护作用。关于保加利亚药用植物中多酚抗氧化剂含量的定量数据是零散和不系统的。本研究的目的是测定保加利亚药用植物和水果的一系列提取物、浸液和煎剂中的多酚含量,并比较它们的多酚含量。材料和方法:在本研究中,分析了18种保加利亚药用植物和水果的总酚和总黄酮含量,并用高效液相色谱法分析了它们各自的黄酮类化合物(+)-儿茶素、(-)-表儿茶素和芦丁的含量。通过层次聚类分析对抗氧化多酚类化合物的含量进行了比较评价。结果表明,山楂花的总酚和总黄酮含量最高,在团聚时间表系数分析中形成了一个单独的聚类。在水果中,总酚和总黄酮含量的数据更加一致,因为聚类分析显示6种元素在高平均值组中的分布。接骨木(Sambicus nigra)的花和果实是所研究植物中芦丁最丰富的来源。结论:本研究提供了保加利亚药用植物和水果中多酚含量的新数据,并评估了它们在甲醇提取物、浸液和煎剂中的相似程度,为开发有效的抗氧化药用植物成分提供了新的数据。
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引用次数: 0
Three Cases of Encephalopathy / Disseminated Encephalomyelitis in SARS-COV-2 Infection SARS-COV-2感染中脑病/播散性脑脊髓炎3例分析
Q4 Medicine Pub Date : 2022-04-01 DOI: 10.2478/amb-2022-0009
D. Metodiev, Y. Toshev, K. Anachkov, N. Sarbyanova, S. Nachev
Abstract Аs many other viral pandemics, the current SARS-CoV-2 is also characterized by nervous system involvement, mainly in elderly patients with comorbidities. Recent scientific reports indicate that involvement of the nervous system is manifested by a variety of clinical symptoms related to the severity and extent of brain damage. Encephalopathy, encephalitis and polyneuritis are among the complications reported in patients with SARSCoV- 2. These complications have been morphologically proven. As an immune-privileged structure, neural tissue is particularly vulnerable to autoimmune attacks. Therefore, various neurological diseases such as MS, Guillain-Barre syndrome, as well as autoimmune encephalitis and psychosis have also been reported in patients with SARS-CoV-2 infection. Herein, we present three cases of patients who died after infection with the SARS-CoV-2 virus. We emphasize on the pathomorphological changes found in a detailed study of the brain and cervical spine. The analysis of the inflammatory findings, mainly manifested by perivenous lymphocytic infiltrates, serodiapedesis and erythrocyte depots around the vessels, showed a presence of initial demyelination (in two of the cases). The blood supply of most venous vessels with different size and a pronounced “sludge” phenomenon were the most impressive findings, as in some sections these changes were demonstrated by a presence of thrombosis. Inflammatory manifestations were also observed in the brainstem near to the stem nuclei. The SARS-CoV-2 virus induces a variety of immune system responses. In some patients there is a negligible or no reaction, while in others there is a “cytokine storm” with a system damage of multiple organs – often including the brain.
摘要А与许多其他病毒性流行病一样,目前的严重急性呼吸系统综合征冠状病毒2型也以神经系统受累为特征,主要发生在患有合并症的老年患者中。最近的科学报告表明,神经系统的受累表现为与脑损伤的严重程度和程度相关的各种临床症状。脑病、脑炎和多神经炎是严重急性呼吸系统综合征冠状病毒2型患者的并发症。这些并发症已在形态学上得到证实。作为一种免疫特权结构,神经组织特别容易受到自身免疫攻击。因此,在严重急性呼吸系统综合征冠状病毒2型感染患者中也有各种神经系统疾病的报道,如多发性硬化症、格林-巴利综合征,以及自身免疫性脑炎和精神病。在此,我们报告了三例感染严重急性呼吸系统综合征冠状病毒2型后死亡的患者。我们强调在对大脑和颈椎的详细研究中发现的病理形态学变化。炎症表现的分析主要表现为静脉周淋巴细胞浸润、血清渗出和血管周围的红细胞贮库,显示存在最初的脱髓鞘(其中两例)。大多数大小不同的静脉血管的血液供应和明显的“污泥”现象是最令人印象深刻的发现,因为在某些部位,血栓形成证明了这些变化。在靠近脑干核团的脑干中也观察到炎症表现。严重急性呼吸系统综合征冠状病毒2型病毒诱导多种免疫系统反应。一些患者的反应可以忽略不计或没有反应,而另一些患者则出现了“细胞因子风暴”,对包括大脑在内的多个器官造成系统损伤。
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引用次数: 0
Surgical Treatment of Patients with Adenocarcinoma of the Distal Esophageal Portion and Gastroesophageal Junction Performed After Neoadjuvant Chemotherapy and Combined Chemoradiation 新辅助化疗联合放化疗后食管远端及胃食管交界处腺癌的手术治疗
Q4 Medicine Pub Date : 2022-04-01 DOI: 10.2478/amb-2022-0007
G. Yankov, M. Alexieva, M. Kovacheva-Slavova, B. Vladimirov, E. Mekov
Abstract Esophageal carcinoma is an extremely aggressive cancer with an early distant spread, high rate of local recurrence, and low overall survival. Herewith we present 3 patients with advanced moderately and low differentiated adenocarcinomas, who underwent neoadjuvant chemotherapy (nCT) (two patients) and combined nCT with neoadjuvant radiation therapy (nRT) (one patient), followed by radical surgery. Subtotal esophageal resection, proximal gastric resection, and intrathoracic right gastroesophagoplasty a modo Ivor-Lewis were performed in the first two patients, while total gastrectomy, distal third esophageal resection, splenectomy and left intrathoracic esophagojejunoplasty a modo Roux were performed in the third one. A literature review of the role of neoadjuvant chemoradiotherapy (nCRT) as part of a trimodality therapy for advanced esophageal carcinoma is presented.
食管癌是一种侵袭性极强的肿瘤,早期远处扩散,局部复发率高,总生存率低。我们报告了3例晚期中、低分化腺癌患者,接受了新辅助化疗(nCT)(2例)和新辅助放疗(nRT)(1例),并行根治性手术。前2例患者行食管次全切除术、胃近端切除术、胸内右胃食管成形术a modo Ivor-Lewis;第三例患者行全胃切除术、远端第三食管切除术、脾切除术、左胸内食管空肠成形术a modo Roux。文献综述了新辅助放化疗(nCRT)作为晚期食管癌三段式治疗的一部分的作用。
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引用次数: 0
The Role of Genetics in a Personalized Approach in Patients with Feeding Problems, Overweight and Obesity 遗传学在喂养问题、超重和肥胖患者个性化治疗中的作用
Q4 Medicine Pub Date : 2022-04-01 DOI: 10.2478/amb-2022-0003
O. Antonova, V. Spasova
Abstract Aim: For the last 20 years a large amount of data was gathered showing a genetic predisposition to overweight and obesity. The aim of this study was to demonstrate a personalized, genetic-based approach in normalizing the patients’ weight and eating habits. Materials and methods: Eight patients – seven women and one man – aged 28-51 years with BMI ranging from 17,58 to 38,95 kg/m2 were examined. Two of them were underweight, two – with normal weight, two – overweight, and two – obese. Patients were genotyped for: APOA2 (rs5082), ADIPOQ, (rs17300539), FTO (rs9939609), KCTD10 (rs10850219), LIPC (rs1800588), MMAB (rs2241201), PPARG (rs1801282), ANKK1/DRD2 (rs1800497), TAS2R38 (rs1726866), LEPR (rs2025804) and SLC2A2 (rs5400). Based on the genetic results, the type of diet (balanced, Mediterranean, low-fat and low-carbohydrate) was determined; the predisposition to unhealthy eating habits was described and followed by a genetic counseling to clarify the findings as well as a dietitian consultation to formulate a personalized diet. Results: Our results showed that the patients’ actual diet was equivocally different from the genetically determined one. Аll patients, except for one, had hereditary predispositions to a particular unhealthy eating habit. Conclusion: The inclusion of genetic testing and personalization of the diet facilitates the long-term maintenance of optimal body weight.
摘要目的:在过去的20年里,收集了大量数据,显示超重和肥胖的遗传易感性。这项研究的目的是展示一种个性化的、基于基因的方法来规范患者的体重和饮食习惯。材料和方法:8名患者——7名女性和1名男性——年龄28-51岁,BMI范围为17,58至38,95 kg/m2。其中两人体重不足,两人体重正常,两人超重,两人肥胖。对患者进行基因分型:APOA2(rs5082)、ADIPOQ(rs17300539)、FTO(rs9939609)、KCTD10(rs10850219)、LIPC(rs1800588)、MMAB(rs2241201)、PPARG(rs1801282)、ANKK1/DRD2(rs1800497)、TAS2R38(rs1726866)、LEPR(rs2025804)和SLC2A2(rs5400)。根据遗传结果,确定了饮食类型(均衡、地中海、低脂和低碳水化合物);描述了不健康饮食习惯的倾向,随后进行了基因咨询以澄清研究结果,并咨询了营养师以制定个性化饮食。结果:我们的研究结果表明,患者的实际饮食与基因决定的饮食有着明显的不同。除一名患者外,所有患者都有特定不健康饮食习惯的遗传倾向。结论:纳入基因检测和个性化饮食有助于长期保持最佳体重。
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引用次数: 0
Controversy: Critical Review of the Stich Trial and Assessment of Viability. “Back to the Future” Or Maybe Not 争议:针具试验和可行性评估的批判性回顾。《回到未来》又或者不是
Q4 Medicine Pub Date : 2022-04-01 DOI: 10.2478/amb-2022-0011
V. Grigorov, E. Grigorov
Abstract The management of patients with coronary artery disease and heart failure has been debated for years. In the 1980’s Braunwald coined the words “viability” and “stunning”. Multiple trials have been done since then. Since the early eighties coronary bypass grafting was considered as gold standard for patients with impaired left ventricular fraction and coronary artery disease. Since then, nuclear imaging studies have been used to evaluate the “viability” of the impaired areas and to decide if revascularisation would be reasonable. Beginning with the CASS study and ending with the more recent STICH study we aim to provide a “bird’s eye view” of the pros and cons for revascularisation. In addition, we aim to shed some light on the daily advancements in medical management, including devices and not just medication. We therefore chose the title “Back to the future” or maybe not.
冠状动脉疾病合并心力衰竭患者的治疗已经争论多年。在20世纪80年代,布劳恩瓦尔德创造了“生存能力”和“惊人”这两个词。从那时起,已经进行了多次试验。自八十年代初以来,冠状动脉旁路移植术被认为是治疗左室分数受损和冠状动脉疾病患者的金标准。从那时起,核成像研究已被用于评估受损区域的“生存能力”,并决定是否应该进行血管重建。从CASS研究开始,到最近的STICH研究结束,我们的目标是提供血管重建的利弊的“鸟瞰图”。此外,我们的目标是阐明医疗管理的日常进步,包括设备,而不仅仅是药物。因此,我们选择了“回到未来”的标题,也许不是。
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引用次数: 0
Imaging in a Patient with Recent Cesarean Section and Acute Right Lower Quadrant Pain Due to Torsion OF Ovarian Teratoma – Diagnostic Challenges 近期剖宫产并卵巢畸胎瘤扭转引起急性右下腹疼痛患者的影像学诊断挑战
Q4 Medicine Pub Date : 2022-04-01 DOI: 10.2478/amb-2022-0006
E. Arabadzhieva, M. Krupev, A. Yonkov, D. Bulanov, S. Bonev
Abstract Introduction: Ovarian teratomas are common pathology, manifested by various clinical and imaging findings, as well as different complications. The differential diagnosis can be challenging in cases with acute right lower quadrant (ARLQ) pain. Aim: to present typical imaging findings in this pathology and possible pitfalls in their interpretation, focusing on a case with torsion of ovarian teratoma. Methods: We describe a case of a 41-yearold female patient with a recent Cesarean section and a history of kidney stones and previous appendectomy, who presented with acute right lower quadrant pain. Her pregnancy was uneventful. The plain abdominal X-ray, ultrasound and computer tomography images revealed air-fluid levels, a fecaloma in the ascending colon and a pelvic mass of unclear origin, misinterpreted as a foreign body or postoperative complication. Results: The patient underwent a surgical procedure that revealed an ovarian teratoma torsion. A right adnexectomy was performed. The diagnosis was confirmed by histological examination. Conclusion: An excellent knowledge of the imaging findings in the diseases presented with ARLQ pain is of vital importance, however patient’s co-morbidities and recent surgical procedures may hinder the correct interpretation.
摘要简介:卵巢畸胎瘤是常见的病理,表现为各种临床和影像学表现,以及不同的并发症。在急性右下象限(ARLQ)疼痛的病例中,鉴别诊断可能具有挑战性。目的:介绍卵巢畸胎瘤扭转的典型影像学表现及其解释中可能存在的缺陷。方法:我们描述了一例41岁的女性患者,她最近剖腹产,有肾结石和阑尾切除术的病史,表现为急性右下象限疼痛。她的怀孕平安无事。腹部平片、超声波和计算机断层扫描图像显示了空气液位、升结肠中的粪块和来源不明的盆腔肿块,被误解为异物或术后并发症。结果:患者接受了手术,发现卵巢畸胎瘤扭转。进行了右侧附件切除术。组织学检查证实了诊断。结论:了解ARLQ疼痛疾病的影像学表现至关重要,但患者的合并症和最近的手术可能会阻碍正确的解释。
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引用次数: 0
Long COVID-19 Syndrome: Multiorgan Damage and Recommendations for Follow-Up and Rehabilitation 长期COVID-19综合征:多器官损伤及随访和康复建议
Q4 Medicine Pub Date : 2022-04-01 DOI: 10.2478/amb-2022-0010
R. Cherneva, Zheyna V. Cherneva
Abstract The majority of the SARS-CoV-2 infected patients fully recover within a few weeks. However, a significant proportion of them, independently of their age, still have multi-organ damage, similar to that during the acute phase of infection, or symptoms for a longer term afte r recovery. “Postacute-COVID-19 (Long COVID-19 Syndrome)” is a term used for COVID-19 patients who are still symptomatic 4 and 12 weeks after the onset of acute symptoms and “Post-COVID-19-syndrome” ‒ for those with symptoms for longer than 12 weeks after the onset of acute symptoms. The severity of the initial infection does not correlate with the probability for and with the severity of long-term symptoms. This review comments on the multiorgan effects of Long COVID-19 Syndrome: respiratory, cardiovascular, hematological, renal, gastrointestinal, neurological, and metabolic ones. Recommendations for follow-up and rehabilitation for the recovery of Long COVID-19 Syndrome patients are discussed in detail.
摘要大多数严重急性呼吸系统综合征冠状病毒2型感染患者在几周内完全康复。然而,与年龄无关,他们中的很大一部分人仍然有多器官损伤,类似于感染急性期的损伤,或康复后的长期症状。“急性COVID-19后(新冠肺炎长期综合征)”是一个术语,用于急性症状出现4周和12周后仍有症状的新冠肺炎患者,“急性COVID-19后综合征”是指急性症状出现后症状超过12周的患者。初次感染的严重程度与长期症状的概率和严重程度无关。这篇综述评论了Long新冠肺炎综合征的多器官影响:呼吸、心血管、血液、肾脏、胃肠道、神经和代谢综合征。详细讨论了长期新冠肺炎综合征患者康复的随访和康复建议。
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引用次数: 0
Direct Fixation of Fractures of the Posterior Malleolus Through a Postero-Medial Approach 后内侧入路直接固定后踝骨折
Q4 Medicine Pub Date : 2022-04-01 DOI: 10.2478/amb-2022-0004
Y. Andonov, P. Parashkevova
Abstract Background and objective: Fractures of the posterior malleolus have long been neglected in the past. The decision for their fixation should be based on plain lateral radiographs. Recent studies have emphasized the important biomechanical function of the posterior tibial ridge. This has caused a trend towards more aggressive surgical treatment. The aim of this study was to present our experience with the direct fixation of complex ankle fractures engaging the posterior malleolus. We also tried to clarify the advantages and limitations of the posterior-medial surgical approach. Materials and Methods: For a period of 1,5 years we have operated 14 patients with posterior malleolus fractures. Their average age was 51 years. Eight of the patients were male, the rest 6 were females. Fractures were classified according to Bartoníček classification system. All patients had type 3 fractures. Direct open reduction was performed in all cases. Posterior buttress plate was used for the fixation of the fracture. Bone grafting was found necessary in one case. Functional assessment was done according to the criteria of the AOFAS (American Orthopedic Foot and ankle score). Follow up was done for an average period of 10 months. Results: All fractures united for an average period of 9 weeks (8-10 weeks). Six patients achieved an excellent functional result, 5 – a good one and 3 had an average result. The average AOFAS rating score was 84,02 (54-100). The average range of motion was 38° (15°-50°). There were no deep infections or septic arthritis. Three ankles had superficial skin necrosis that healed without any additional procedures. One patient had prolonged and substantial swelling of the leg, despite of the routine antithrombotic prophylaxis. Five patients needed their fibular plates removed due to local irritation. Conclusion: The direct reduction and fixation of the posterior malleolus fractures allow anatomical restoration of the ankle mortise. This is a prerequisite for an optimal functional recovery and appears to be a safe treatment strategy.
背景与目的:后踝骨折在过去一直被忽视。其固定的决定应基于平侧位x线片。最近的研究强调了胫骨后脊的重要生物力学功能。这导致了更积极的手术治疗的趋势。本研究的目的是介绍我们直接固定累及后踝的复杂踝关节骨折的经验。我们也试图澄清后内侧手术入路的优点和局限性。材料与方法:在15年的时间里,我们对14例后踝骨折进行了手术治疗。他们的平均年龄为51岁。其中男性8例,女性6例。按照Bartoníček分类系统对骨折进行分类。所有患者均为3型骨折。所有病例均行直接切开复位。采用后路支撑钢板固定骨折。一例发现需要植骨。根据AOFAS (American Orthopedic Foot and ankle score)评分标准进行功能评估。随访时间平均为10个月。结果:所有骨折愈合时间平均为9周(8-10周)。6例功能良好,5例良好,3例一般。平均AOFAS评分为84,02分(54-100分)。平均活动范围为38°(15°-50°)。没有深部感染或脓毒性关节炎。三个踝关节有浅表皮肤坏死,没有任何额外的手术就愈合了。1例患者有长期和实质性肿胀的腿,尽管常规抗血栓预防。5例患者因局部刺激需要取下腓骨板。结论:后踝骨折直接复位固定可实现踝关节的解剖修复。这是最佳功能恢复的先决条件,似乎是一种安全的治疗策略。
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引用次数: 0
Targeted Screening of the C9orf72 Gene in Bulgarian Amyotrophic Lateral Sclerosis Patients 保加利亚肌萎缩侧索硬化症患者C9orf72基因的靶向筛选
Q4 Medicine Pub Date : 2022-04-01 DOI: 10.2478/amb-2022-0002
S. Ormandzhiev, T. Todorov, T. Angelov, T. Chamova, V. Mitev, A. Todorova, I. Tournev
Abstract Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease, characterized by progressive degeneration of the upper and lower motor neurons, leading to muscle weakness, hypotrophy, swallowing and respiratory failure. The cause of ALS is not yet fully elucidated, but there are 35 associated genes and 2 gene loci with an unidentified gene. The most common are C9orf72, SOD1, TARDBP and FUS found in approximately 10% of patients. Variants in the C9orf72 gene are the main cause of fALS – 25-40% of cases (and a small percentage of sALS). The goal of the present study was to evaluate the significance of the C9orf72 hexanucleotide repeat expansion in Bulgarian patients with ALS, through the means of in house and triplet repeat-primed PCR assay (TP-PCR). From 171 patients diagnosed with ALS and included in the current study, we have identified the repeat expansion with more than 145 GGGGCC repeats in 7 (4,1%). Short expansions or borderline values (24 to 30 repeats) were not detected. Due to absence of sufficient data, we have established an ALS-focused research for the association of the C9orf72 gene in clinically well-characterized Bulgarian ALS patients. Published data show variable percentage ratios for genetically verified cases (4-40%), which is mainly due to small sample counts and sALS-fALS ratios. Our patients’ group also contains sALS and fALS cases, which explains the low percentage of genetic verification. The obtained results enrich the worldwide database and shed light onto genetically characterized Bulgarian ALS patients. Affected patients and their families can receive adequate medical-genetic consultation and prenatal diagnostic testing.
摘要肌萎缩侧索硬化症(Amyotrophic lateral sclerosis, ALS)是一种神经退行性疾病,其特征是上下运动神经元进行性变性,导致肌肉无力、萎缩、吞咽和呼吸衰竭。ALS的病因尚未完全阐明,但有35个相关基因和2个基因位点与一个未知的基因。最常见的是C9orf72, SOD1, TARDBP和FUS,约10%的患者发现。C9orf72基因的变异是导致fALS的主要原因,占fALS病例的25-40%(占sALS的一小部分)。本研究的目的是通过室内和三重重复引物PCR (TP-PCR)的方法,评估保加利亚ALS患者C9orf72六核苷酸重复扩增的意义。从被诊断为ALS的171例患者中,我们发现了7例(4.1%)中超过145个GGGGCC重复扩增。未检测到短扩展或边界值(24至30次重复)。由于缺乏足够的数据,我们建立了一项针对临床特征良好的保加利亚ALS患者的C9orf72基因相关性的ALS研究。已公布的数据显示,基因验证病例的百分比比例不同(4-40%),这主要是由于样本数少和als - fals比率。我们的患者组中也有als和fALS病例,这也解释了为什么基因验证的比例很低。获得的结果丰富了全球数据库,并阐明了保加利亚ALS患者的遗传特征。受影响的患者及其家属可以得到充分的医学遗传咨询和产前诊断检测。
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引用次数: 0
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Acta Medica Bulgarica
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