Acta Medica Bulgarica最新文献

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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
Acta Medica Bulgarica Pub Date : 2022-04-01 DOI: 10.2478/amb-2022-0001
I. Yankova, A. Shinkov, R. Kovatcheva
{"title":"Evaluation of the Early Results of Percutaneous Ethanol Ablation in Patients with Primary Hyperparathyroidism","authors":"I. Yankova, A. Shinkov, R. Kovatcheva","doi":"10.2478/amb-2022-0001","DOIUrl":"https://doi.org/10.2478/amb-2022-0001","url":null,"abstract":"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.","PeriodicalId":35746,"journal":{"name":"Acta Medica Bulgarica","volume":" ","pages":"5 - 11"},"PeriodicalIF":0.0,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48137166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Acta Medica Bulgarica 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
{"title":"Comparative Evaluation of the Content of Antioxidant Polyphenolic Compounds in Selected Bulgarian Medicinal Plants","authors":"S. Tsanova-Savova, S. Velikov, Slaveyka Stoimenova Paneva, P. Koleva, P. Nikolchova, D. Etugov, Z. Savova","doi":"10.2478/amb-2022-0005","DOIUrl":"https://doi.org/10.2478/amb-2022-0005","url":null,"abstract":"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.","PeriodicalId":35746,"journal":{"name":"Acta Medica Bulgarica","volume":"49 1","pages":"26 - 34"},"PeriodicalIF":0.0,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42546085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Acta Medica Bulgarica Pub Date : 2022-04-01 DOI: 10.2478/amb-2022-0007
G. Yankov, M. Alexieva, M. Kovacheva-Slavova, B. Vladimirov, E. Mekov
{"title":"Surgical Treatment of Patients with Adenocarcinoma of the Distal Esophageal Portion and Gastroesophageal Junction Performed After Neoadjuvant Chemotherapy and Combined Chemoradiation","authors":"G. Yankov, M. Alexieva, M. Kovacheva-Slavova, B. Vladimirov, E. Mekov","doi":"10.2478/amb-2022-0007","DOIUrl":"https://doi.org/10.2478/amb-2022-0007","url":null,"abstract":"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.","PeriodicalId":35746,"journal":{"name":"Acta Medica Bulgarica","volume":"49 1","pages":"40 - 45"},"PeriodicalIF":0.0,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41555431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Acta Medica Bulgarica Pub Date : 2022-04-01 DOI: 10.2478/amb-2022-0009
D. Metodiev, Y. Toshev, K. Anachkov, N. Sarbyanova, S. Nachev
{"title":"Three Cases of Encephalopathy / Disseminated Encephalomyelitis in SARS-COV-2 Infection","authors":"D. Metodiev, Y. Toshev, K. Anachkov, N. Sarbyanova, S. Nachev","doi":"10.2478/amb-2022-0009","DOIUrl":"https://doi.org/10.2478/amb-2022-0009","url":null,"abstract":"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.","PeriodicalId":35746,"journal":{"name":"Acta Medica Bulgarica","volume":"49 1","pages":"51 - 56"},"PeriodicalIF":0.0,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45109766","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Acta Medica Bulgarica Pub Date : 2022-04-01 DOI: 10.2478/amb-2022-0003
O. Antonova, V. Spasova
{"title":"The Role of Genetics in a Personalized Approach in Patients with Feeding Problems, Overweight and Obesity","authors":"O. Antonova, V. Spasova","doi":"10.2478/amb-2022-0003","DOIUrl":"https://doi.org/10.2478/amb-2022-0003","url":null,"abstract":"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.","PeriodicalId":35746,"journal":{"name":"Acta Medica Bulgarica","volume":"49 1","pages":"17 - 21"},"PeriodicalIF":0.0,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42535608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Acta Medica Bulgarica Pub Date : 2022-04-01 DOI: 10.2478/amb-2022-0011
V. Grigorov, E. Grigorov
{"title":"Controversy: Critical Review of the Stich Trial and Assessment of Viability. “Back to the Future” Or Maybe Not","authors":"V. Grigorov, E. Grigorov","doi":"10.2478/amb-2022-0011","DOIUrl":"https://doi.org/10.2478/amb-2022-0011","url":null,"abstract":"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.","PeriodicalId":35746,"journal":{"name":"Acta Medica Bulgarica","volume":"49 1","pages":"63 - 68"},"PeriodicalIF":0.0,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46936702","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Acta Medica Bulgarica Pub Date : 2022-04-01 DOI: 10.2478/amb-2022-0006
E. Arabadzhieva, M. Krupev, A. Yonkov, D. Bulanov, S. Bonev
{"title":"Imaging in a Patient with Recent Cesarean Section and Acute Right Lower Quadrant Pain Due to Torsion OF Ovarian Teratoma – Diagnostic Challenges","authors":"E. Arabadzhieva, M. Krupev, A. Yonkov, D. Bulanov, S. Bonev","doi":"10.2478/amb-2022-0006","DOIUrl":"https://doi.org/10.2478/amb-2022-0006","url":null,"abstract":"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.","PeriodicalId":35746,"journal":{"name":"Acta Medica Bulgarica","volume":"49 1","pages":"35 - 39"},"PeriodicalIF":0.0,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41581714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Acta Medica Bulgarica Pub Date : 2022-04-01 DOI: 10.2478/amb-2022-0010
R. Cherneva, Zheyna V. Cherneva
{"title":"Long COVID-19 Syndrome: Multiorgan Damage and Recommendations for Follow-Up and Rehabilitation","authors":"R. Cherneva, Zheyna V. Cherneva","doi":"10.2478/amb-2022-0010","DOIUrl":"https://doi.org/10.2478/amb-2022-0010","url":null,"abstract":"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.","PeriodicalId":35746,"journal":{"name":"Acta Medica Bulgarica","volume":"49 1","pages":"57 - 62"},"PeriodicalIF":0.0,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45446491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Acta Medica Bulgarica Pub Date : 2022-04-01 DOI: 10.2478/amb-2022-0004
Y. Andonov, P. Parashkevova
{"title":"Direct Fixation of Fractures of the Posterior Malleolus Through a Postero-Medial Approach","authors":"Y. Andonov, P. Parashkevova","doi":"10.2478/amb-2022-0004","DOIUrl":"https://doi.org/10.2478/amb-2022-0004","url":null,"abstract":"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.","PeriodicalId":35746,"journal":{"name":"Acta Medica Bulgarica","volume":"49 1","pages":"22 - 25"},"PeriodicalIF":0.0,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44012199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
Acta Medica Bulgarica 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
{"title":"Targeted Screening of the C9orf72 Gene in Bulgarian Amyotrophic Lateral Sclerosis Patients","authors":"S. Ormandzhiev, T. Todorov, T. Angelov, T. Chamova, V. Mitev, A. Todorova, I. Tournev","doi":"10.2478/amb-2022-0002","DOIUrl":"https://doi.org/10.2478/amb-2022-0002","url":null,"abstract":"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.","PeriodicalId":35746,"journal":{"name":"Acta Medica Bulgarica","volume":"49 1","pages":"12 - 16"},"PeriodicalIF":0.0,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48769567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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