Medicina Moderna - Modern Medicine最新文献

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Mesenteric lymphangioma – a rare tumor of the abdomen 肠系膜淋巴管瘤——一种罕见的腹部肿瘤
Medicina Moderna - Modern Medicine Pub Date : 2022-06-22 DOI: 10.31689/rmm.2021.29.2.165
F. Bobircă, Ionut Melesteu, D. Dumitrescu, Carmen Iorgus, R. Sima, T. Patrascu, A. Bobircă
{"title":"Mesenteric lymphangioma – a rare tumor of the abdomen","authors":"F. Bobircă, Ionut Melesteu, D. Dumitrescu, Carmen Iorgus, R. Sima, T. Patrascu, A. Bobircă","doi":"10.31689/rmm.2021.29.2.165","DOIUrl":"https://doi.org/10.31689/rmm.2021.29.2.165","url":null,"abstract":"Mesenteric lymphangioma (ML) is a cystic tumor developed at the base of the mesentery, which occurs frequently in children, rarely in adults, with nonspecific symptoms, often diagnosed late. The diagnosis is made by computer tomography and the curative treatment is the surgical one with good results and with optimal postoperative outcome. A 44-year-old patient for whom mesh surgery for incisional hernia post appendectomy has been performed was admitted to our clinic for nonspecific gastrointestinal symptoms for which he has also been investigated multiple times in other services. On the right flank and iliac fossa, a tumor of firmelastic consistency is detected, relatively well delimited. Computed tomography (CT) describes the lesion as a mesenteric tumor. Intraoperatively, a cystic tumor is detected, which is punctured, the biochemical result highlighting the lymphatic character. The surgical treatment was represented by segmental intestinal resection with entero-enteroanastomosis. No postoperative events were reported.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"19 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132414969","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
Correlation between Early Diagnosis of Ovarian Neoplasm and Long-Term Prognosis 卵巢肿瘤早期诊断与远期预后的关系
Medicina Moderna - Modern Medicine Pub Date : 2022-06-22 DOI: 10.31689/rmm.2021.29.2.115
A. Baros, A. Potorac, N. Turcan, D. Secară, O. Munteanu, G. Pariza, M. Cirstoiu
{"title":"Correlation between Early Diagnosis of Ovarian Neoplasm and Long-Term Prognosis","authors":"A. Baros, A. Potorac, N. Turcan, D. Secară, O. Munteanu, G. Pariza, M. Cirstoiu","doi":"10.31689/rmm.2021.29.2.115","DOIUrl":"https://doi.org/10.31689/rmm.2021.29.2.115","url":null,"abstract":"Ovarian cancer is the seventh most commonly diagnosed cancer in women, with the highest mortality rate among female genital cancers. Due to the nonspecific symptoms and the lack of effective screening strategies, ovarian cancer is often diagnosed in an advanced stage of the disease, with a 5-year survival rate of 25%. The efforts of specialists are aimed at identifying screening methods, with the lowest possible rates of false positive or false negative results in order to diagnose the disease at an early stage, when the 5-year survival rate is 92%. In this study we analyzed the incidence of ovarian cancer in the last five years in the Bucharest University Emergency Hospital, being registered 153 cases of ovarian cancer. The aim of this paper is to analyze the correlation between the early diagnosis of ovarian cancer and the long-term prognosis.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"173 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124251576","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 Covid-19 Pandemic: A Study on Its Impact on Patients with Dystonia and Related Conditions Treated with Botulinum Toxin in a Tertiary Centre in Romania Covid-19大流行:对罗马尼亚三级中心用肉毒杆菌毒素治疗的肌张力障碍患者及相关病症的影响研究
Medicina Moderna - Modern Medicine Pub Date : 2022-06-22 DOI: 10.31689/rmm.2021.29.2.105
Mioara Avasilichioaiei, O. Băjenaru, N. Blidaru, Sorina Neculai, Liviu Cozma, Iulia Mitrea, Delia Tulba, B. Popescu
{"title":"The Covid-19 Pandemic: A Study on Its Impact on Patients with Dystonia and Related Conditions Treated with Botulinum Toxin in a Tertiary Centre in Romania","authors":"Mioara Avasilichioaiei, O. Băjenaru, N. Blidaru, Sorina Neculai, Liviu Cozma, Iulia Mitrea, Delia Tulba, B. Popescu","doi":"10.31689/rmm.2021.29.2.105","DOIUrl":"https://doi.org/10.31689/rmm.2021.29.2.105","url":null,"abstract":"Background and Objectives: The COVID-19 pandemic triggered significant delays in the treatment of people with movement disorders who depend on face-to-face clinic encounters for receipt of their regular botulinum toxin injections. Against this background, it was the aim of this study to look into pandemic-related characteristics of patients with dystonia and hemifacial spasm treated with botulinum toxin at a tertiary centre in Romania and identify potential correlations between delays in treatment and health perceptions. Materials and Methods: A cross sectional, questionnaire-based, study was conducted between May-September 2021 on the 175 patients in the centre’s botulinum toxin database. Results: Of the 90 patients who qualified for inclusion most were late middle-aged females with long-standing dystonia, of which torticollis and blepharospasm were the most common phenotypes. Treatment was delayed by an average of 8.5 months, whereas the overall quality-of-life health score was 61.1, with 60% of respondents rating themselves above 50. No statistically significant correlation was identified between delays in treatment and overall healthscores. Instead, statistically significant differences were uncovered based on type of disorder (dystonia vs. hemifacial spasm). Conclusion: The results of this study may go on to show that, in the event of similar pandemic surges, patient micromanagement by type of disorder may be part of a well-balanced restriction-cum-access health policy.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"68 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122233875","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
Early atherosclerosis and acute vascular events in ulcerative colitis patients-a case series 溃疡性结肠炎患者的早期动脉粥样硬化和急性血管事件-一个病例系列
Medicina Moderna - Modern Medicine Pub Date : 2022-06-22 DOI: 10.31689/rmm.2021.29.2.123
A. Negreanu, A. Stemate, Teodora Spataru, L. Negreanu
{"title":"Early atherosclerosis and acute vascular events in ulcerative colitis patients-a case series","authors":"A. Negreanu, A. Stemate, Teodora Spataru, L. Negreanu","doi":"10.31689/rmm.2021.29.2.123","DOIUrl":"https://doi.org/10.31689/rmm.2021.29.2.123","url":null,"abstract":"Introduction: In inflammatory bowel disease uncontrolled inflammation may play a role in the early progression of systemic atheromatosis with increased cardiovascular risk. Endothelial dysfunction is mediated by pro-inflammatory cytokines but also by an increased level of CRP which is involved in the expression of adhesion molecules and atheroma plaque rupture. Tailored treatment with better control of the ulcerative colitis and endoscopic healing might result in decrease risk of atherothrombotic events. Aim: We decided to use a well-established method (vascular Doppler ultrasound with media-intimate index measurement) to detect an increased incidence of endothelial lesions as predictors of early atheromatosis in patients with ulcerative colitis treated with biological or conventional therapy. Material and methods: We prospectively analyzed 25 patients with RCUH with a mean age of 40 years, 16 with biological treatment. The Student t test, the Mann Whitney U test and the ANOVA test were used to compare continuous variables. Results: A discriminant analysis was performed with the presence of atheroma plaque as a dependent variable and several predictor variables, such as age, triglycerides, cholesterol of patients with ulcerative colitis. Univariate ANOVA analyzes revealed that the presence or absence of atheroma plaque differs in the variables predicting the age, INR and ecoIMT of patients with ulcerative colitis (in the age of patients (F = 8.511, degrees of freedom = 11, p = 0.014) Patients ‚INR (F = 50,437, degrees of freedom = 11, p = 0.001) and Patients’ ecoIMT (F = 7,398, degrees of freedom = 11, p = 0.020) In another analysis of discriminatory function s -introduced the predictor variables specific to measuring the evolution of ulcerative colitis, respectively Mayo and Mayo E (age (F = 0.8511, degrees of freedom = 11, p = 0.014), INR (F = 50.437, degrees of freedom = 11, p = 0.001), ecoIMT (F = 7.398, df = 11, p = 0.020) and Mayo (F = 14.885, degrees of freedom = 11, p = 0.003). Conclusions: Age, endoscopic activity, and INR were correlated with predictive ultrasound changes for atheromatosis. Strengths are the prospective nature of the study and weaknesses are the limited number of patients and the fact that most patients were in remission and treated with biologicals, which could create bias in the sense of reducing the atherosclerotic risk directly correlated with active inflammation.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"218 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121343320","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
Prediction of Type 2 Diabetes Mellitus Using Soft Computing 用软计算预测2型糖尿病
Medicina Moderna - Modern Medicine Pub Date : 2022-06-22 DOI: 10.31689/rmm.2021.29.2.135
A. Tak, Poonam Punjabi, Anuradha Yadav, M. Sankhla, S. Mathur, Harsh S. Dave, Vaishnavi Patel, Tushar Chavhan, Manisha, Mamta
{"title":"Prediction of Type 2 Diabetes Mellitus Using Soft Computing","authors":"A. Tak, Poonam Punjabi, Anuradha Yadav, M. Sankhla, S. Mathur, Harsh S. Dave, Vaishnavi Patel, Tushar Chavhan, Manisha, Mamta","doi":"10.31689/rmm.2021.29.2.135","DOIUrl":"https://doi.org/10.31689/rmm.2021.29.2.135","url":null,"abstract":"Background: Type 2 Diabetes Mellitus (DM) is another pandemic of 21 century, and its control is of immense importance. Researchers developed many predictor models using soft computing techniques. The present study developed a prediction model for Type 2 DM using machine learning classifiers. The analysis excludes plasma glucose concentration and insulin concentration as predictors to explore relationships with other predictors. Background: Methods: This cross-sectional study enrolled 108 participants aged 25 to 67 years from SMS Medical College, Jaipur (Rajasthan, India), after approval from the ethics committee. The study developed a prediction model using machine learning techniques. The classifiers used in the application include decision trees, support vector machines, K-nearest neighbors, and ensemble learning classifiers. A total of 25 predictors were collected and underwent feature reduction. The response levels include diabetes mellitus, prediabetes, and no diabetes mellitus. The models were run using three predictors and a response variable. The prediction model with the best accuracy and area under the receiver operator characteristic curve was selected. Results: The features that vary among the three groups include age, WHR, biceps skinfold thickness, total lipids, phospholipids, triglycerides, total cholesterol, LDL, VLDL, and serum creatinine, and family history of DM. After feature reduction, the age, biceps skinfold thickness, and serum creatinine were run on the Classification learner application to predict the diabetic category. The best model was subspace discriminant with accuracy, sensitivity, specificity, and AUC under the ROC curve was 62.4%, 74%, 94%, and 0.70, respectively. Conclusion: The present study concludes that age, biceps skinfold thickness, and serum creatinine combination have higher specificity in predicting type 2 DM. The study emphasized the selection of appropriate predictors along with newer machine learning algorithms.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"731 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116068241","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: 2
Prevalence and Risk Factors for Diabetic Complications: 8-Year Retrospective Report from a Single Regional Diabetes Center to the Eastern Region of Morocco 糖尿病并发症的患病率和危险因素:摩洛哥东部地区单一区域糖尿病中心的8年回顾性报告
Medicina Moderna - Modern Medicine Pub Date : 2022-03-30 DOI: 10.31689/rmm.2021.29.1.75
Saliha Mharchi, A. Maamri
{"title":"Prevalence and Risk Factors for Diabetic Complications: 8-Year Retrospective Report from a Single Regional Diabetes Center to the Eastern Region of Morocco","authors":"Saliha Mharchi, A. Maamri","doi":"10.31689/rmm.2021.29.1.75","DOIUrl":"https://doi.org/10.31689/rmm.2021.29.1.75","url":null,"abstract":"Objective: This study aims to investigate the risk factors of diabetes and its complications in the eastern region. Design: This is a retrospective study conducted on diabetic patients followed at the regional center of diabetology and chronic diseases in Oujda for the period 2012-2019. Materials and Methods:Clinical, biological, therapeutic and anthropometric data were collected from patient records. Result: A total of 3.976 patients participated in the study. The frequency of complications is around 1/3. One diabetic out of four has at least one modifiable cardiovascular risk factor: arterial hypertension at 25.35%, dyslipidemia at 12.67%, overweight and obesity at 35.48% and 27.8%. The most discriminating factors in the pathogenesis of diabetic complications in order of importance are age of diabetes, hypertension, HbA1c and dyslipidemia, statistically significant associations were found with p 0.0082, 0.0001, 0.002, 0.0001 respectively). Then a multifactorial analysis coupled with a hierarchical ascending classification in birth data to two large groups of diabetics with complications and those without complications. Discussion: The age of trend T2DM has fallen to less than 40 years, so that the first characteristics of an epidemiological and nutritional transition are being established in our region. In addition, blood pressure and glycemic imbalance in diabetics reflect a problem of medical and therapeutic management that needs to be resolved. Conclusion: The pathogenesis of diabetic complications is multifactorial. However, medical care must be taken to reduce the risk of degenerative complications.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"13 1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116332519","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: 1
Personalized Treatment in Rectal Cancer – a Single Center Study 直肠癌个体化治疗-单中心研究
Medicina Moderna - Modern Medicine Pub Date : 2022-03-30 DOI: 10.31689/rmm.2021.29.1.43
F. Bobircă, Lidia Belega-Mursoi, D. Dumitrescu, A. Bobircă, I. Ancuta, T. Pătraşcu
{"title":"Personalized Treatment in Rectal Cancer – a Single Center Study","authors":"F. Bobircă, Lidia Belega-Mursoi, D. Dumitrescu, A. Bobircă, I. Ancuta, T. Pătraşcu","doi":"10.31689/rmm.2021.29.1.43","DOIUrl":"https://doi.org/10.31689/rmm.2021.29.1.43","url":null,"abstract":"The study aims to evaluate the incidence, characteristics of diagnosis and treatment for patients with rectal cancer, but also the evolution of patients diagnosed with this neoplasia, so that a personalized treatment can be applied and followed, adapted to the patient’s clinical-imaging picture. The study included 127 patients operated on between January 2018 and November 2021. Dixon resection was performed in 63 patients, rectal amputation (Miles) in 42 patients, and Hartmann resection in 22 patients. For the Miles-type intervention, the patients in a more advanced stage were selected, which represented a percentage of 33.07% of the total. This type of intervention involves a permanent colostomy and has a strong impact on the patient’s life. Of the total of 127 patients, the presence of complications was relatively rare, occurring in only 14 patients. Of the 14 patients, the most common complication was abscess, which occurred in 6 patients, while peritonitis and occlusion occurred in only 4 patients. After analyzing the data obtained, it can be seen that the results coincide with world statistics, the highest incidence of rectal cancer occurring in the age range 60-69 years, with an increased incidence among male patients.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130706931","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
Focus on Finerenone, a Non-Steroidal MRA in Diabetic Kidney Disease. What Physicians Should Know? 非甾体MRA在糖尿病肾病中的应用医生应该知道什么?
Medicina Moderna - Modern Medicine Pub Date : 2022-03-30 DOI: 10.31689/rmm.2021.29.1.25
D. Chakraborty, Shouvik Choudhury, S. Lahiry
{"title":"Focus on Finerenone, a Non-Steroidal MRA in Diabetic Kidney Disease. What Physicians Should Know?","authors":"D. Chakraborty, Shouvik Choudhury, S. Lahiry","doi":"10.31689/rmm.2021.29.1.25","DOIUrl":"https://doi.org/10.31689/rmm.2021.29.1.25","url":null,"abstract":"Diabetes mellitus is not only a global concern in recent times but also has become the most common cause of chronic kidney disease which has a great impact on life expectancy, development of cardiovascular diseases, allcause mortality, and morbidity. Despite the recent addition of SGLT2inhibitors along with ACEi and ARBs in the treatment armamentarium of diabetic kidney disease (DKD), there is still an unmet need to minimize the risk of progression to ESKD. Mineralocorticoid Receptor (MR) overactivation has proven to be a significant risk factor in CKD progression which has been targeted as a novel therapeutic modality. Finerenone as a non-steroidal MR Antagonist (MRA) has unique features of the mechanism of action in regards to inhibition of recruitment of transcriptional cofactors implicated in hypertrophic, proinflammatory, and profibrotic gene expression. Salient pharmacokinetic features like shorter half-life, insignificant drug-drug interactions, and not forming any major active metabolite have put the molecule far ahead of its other congener varieties. Pre-clinical and clinical studies have established the safety and efficacy of this molecule in the treatment of DKD. In spite of those results, issues like an appropriate time of initiation of the drug and clinical outcome as add-on therapy have to address on large-scale trial basis.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"24 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125933079","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
Awareness of Diabetic Retinopathy among Adult Population Attending Rural Health Care Center, Uttar Pardesh 印度北方邦农村卫生保健中心成人对糖尿病视网膜病变的认识
Medicina Moderna - Modern Medicine Pub Date : 2022-03-30 DOI: 10.31689/rmm.2021.29.1.53
P. Garg, Mahrukh Khan
{"title":"Awareness of Diabetic Retinopathy among Adult Population Attending Rural Health Care Center, Uttar Pardesh","authors":"P. Garg, Mahrukh Khan","doi":"10.31689/rmm.2021.29.1.53","DOIUrl":"https://doi.org/10.31689/rmm.2021.29.1.53","url":null,"abstract":"Purpose: To study the awareness of diabetes and its multisystem involvement like diabetic retinopathy among population attending the rural health care center of a tertiary care hospital. Methods: A cross sectional study over a period of 2 years was conducted amongst 6000 general adult population attending rural health care center of a tertiary care hospital in Uttar Pradesh. All the patients were subjected to random blood sugar testing and a self-made questionnaire. Data obtained was statistically analyzed using SPSS software version 15.0. (P<0.05) was taken as significant value. Results: In our study, we enrolled 6000 participants of mean age 56.4 years +/- 10years with male: female ratio of 3:5. Based on the questionnaire, we observed that 71.05% of the enrolled participants were unaware about the complications of diabetes. 85.03% did not know that diabetes could affect the eyes per say. While more than 92.18% were particularly unaware about diabetic retinopathy or its treatment modalities. 93.3% of the general adult population said that they would get an eye checkup when their vision is significantly reduced. The awareness about diabetic eye disease was significantly less in females. (p<0.05) Conclusions: As per our study, more than half of the individuals lacked any knowledge about multi system involvement in diabetes. They were particularly unaware about the importance of eye screening in diabetes.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"15 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131468755","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
Clinical Aspects of a Rare Disease: Bardet Biedl Syndrome 一种罕见疾病的临床特征:Bardet Biedl综合征
Medicina Moderna - Modern Medicine Pub Date : 2022-03-30 DOI: 10.31689/rmm.2021.29.1.37
I. Focșa, M. Budisteanu, C. Stoica, F. Nedelea, Claudia Jurca, L. Caba, M. Panzaru, C. Rusu, M. Bălgrădean, L. Butnariu
{"title":"Clinical Aspects of a Rare Disease: Bardet Biedl Syndrome","authors":"I. Focșa, M. Budisteanu, C. Stoica, F. Nedelea, Claudia Jurca, L. Caba, M. Panzaru, C. Rusu, M. Bălgrădean, L. Butnariu","doi":"10.31689/rmm.2021.29.1.37","DOIUrl":"https://doi.org/10.31689/rmm.2021.29.1.37","url":null,"abstract":"Bardet Biedl syndrome (BBS) is a rare primary ciliopathy with a complex and extremely variable clinical presentation. The core features of the disease are rod-cone dystrophy, postaxial polydactyly, central obesity, urogenital anomalies, learning difficulties and kidney disease, however the impairment of any organ may complicate the clinical picture. Here we report on clinical findings of 25 patients diagnosed with BBS. Our study is the first on a cohort of Romanian BBS patients, aiming to emphasize the complexity of the disease that may have a devastating impact on patients and their families. Thus, an early clinical diagnosis is crucial for anticipation of other system and organ involvement. Periodic follow up, by a multidisciplinary team, may prevent several severe complications, which could accelerate or aggravate the most deleterious aspects of the disease: loss of vision or renal impairment.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"12 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134328087","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: 2
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