Clinical phenotype heterogeneity in a family with ε-sarcoglycan gene mutation

Aim of the study. This paper describes six cases of patients with myoclonus-dystonia syndrome who are members of a family in which an SGCE gene mutation has been confirmed.Clinical rationale for the study. Myoclonus-dystonia syndrome is a very rare disease, with an incidence in Europe of about 2 in every million. Due to the fact that only a few case reports of this illness are accessible in the literature, the material we collected seems to be valuable for clinical practice.Materials and methods. A history was taken, and physical and genetic examinations of the patients were performed. Furthermore, the clinical examination of three patients was video-recorded. Results. The clinical picture of the disease varied significantly between the described individuals, from a healthy carrier of the SGCE mutation to patients presenting mild to moderate symptoms. The differences concerned the age at onset of the disease, the initial symptoms, the intensity of involuntary movements, and the predominant symptoms. In addition to the typical movement disorders which are myoclonus and dystonia, in the described family there was also the coexistence of epilepsy, obsessive-compulsive behaviour, dyslexia, dysgraphia, non-harmonious development of cognitive processes, as well as mildphenotypic features of muscular dystrophy. The mutation (NM_001099401.2:c.806-809delACTG) found in the presented family has not been described elsewhere.Conclusions and clinical implications. Our description of six cases of patients demonstrates the heterogeneity of the natural course of the disease, even in patients with the same mutation. It seems reasonable to regularly examine relatives of patients with myoclonus-dystonia syndrome, who should be observed for involuntary movements as well as non-motor symptoms

Technologies of biogas production from different sources – a review

Biogas is produced in the anaerobic digestion of biomass. It is a mixture of methane (mainly), carbon monoxide, hydrogen sulfide and water in vapor form. The concentrations of these gases vary depending on the type of fermentation process substrates, which affect the chemical composition of biogas. The paper presents the characteristics of the biomass subjected to anaerobic processing. Also selected technologies of biogas production from different origin – sewage treatment plants, landfill and agricultural are discussed

Assessment of significance of features acquired from thyroid ultrasonograms in Hashimoto’s disease

Introduction: This paper concerns the analysis of the features obtained from thyroid ultrasound images in left and right transverse and longitudinal sections. In the image analysis, the thyroid lobe is treated as a texture for healthy subjects and patients with Hashimoto's disease. The applied methods of analysis and image processing were profiled to obtain 10 features of the image. Then, their significance in the classification was shown.Material: In this study, the examined group consisted of 29 healthy subjects aged 18 to 60 and 65 patients with Hashimoto's disease. For each subject, four ultrasound images were taken. They were all in transverse and longitudinal sections of the right and left lobe of the thyroid, which gave 376 images in total.Method: 10 different features obtained from each ultrasound image were suggested. The analyzed thyroid lobe was marked automatically or manually with a rectangular element.Results: The analysis of 10 features and the creation for each one of them their own decision tree configuration resulted in distinguishing 3 most significant features. The results of the quality of classification show accuracy above 94% for a non-trimmed decision tree

Influence of the measurement method of features in ultrasound images of the thyroid in the diagnosis of Hashimoto's disease

Introduction: This paper shows the influence of a measurement method of features in the diagnosis of Hashimoto's disease. Sensitivity of the algorithm to changes in the parameters of the ROI, namely shift, resizing and rotation, has been presented. The obtained results were also compared to the methods known from the literature in which decision trees or average gray level thresholding are used.Material: In the study, 288 images obtained from patients with Hashimoto's disease and 236 images from healthy subjects have been analyzed. For each person, an ultrasound examination of the left and right thyroid lobe in transverse and longitudinal sections has been performed.Method: With the use of the developed algorithm, a discriminant analysis has been conducted for the following five options: linear, diaglinear, quadratic, diagquadratic and mahalanobis. The left and right thyroid lobes have been analyzed both together and separately in transverse and longitudinal sections. In addition, the algorithm enabled to analyze specificity and sensitivity as well as the impact of sensitivity of ROI shift, repositioning and rotation on the measured features.Results and summary: The analysis has shown that the highest accuracy was obtained for the longitudinal section (LD) with the method of linear, yielding sensitivity = 76%, specificity = 95% and accuracy ACC = 84%. The conducted sensitivity assessment confirms that changes in the position and size of the ROI have little effect on sensitivity and specificity. The analysis of all cases, that is, images of the left and right thyroid lobes in transverse and longitudinal sections, has shown specificity ranging from 60% to 95% and sensitivity from 62% to 89%. Additionally, it was shown that the value of ACC for the method using decision trees as a classifier is equal to 84% for the analyzed data. Thresholding of average brightness of the ROI gave ACC equal to 76%

Mitochondrial encephalomyopathy: Towards diagnosis. A case report

Mitochondrial diseases may cause a wide range of central and peripheral nervous system disorders, as well as muscle disorders. The diagnostic workup routinely includes electrophysiological, morphological, neuroimaging and genetic studies. In some cases, the diagnosis may be ascertained only when mitochondrial DNA (mtDNA) examination in the muscle is performed. We report on a case of a 24-year-old woman, with a 7-year history of slowly progressive cerebellar syndrome and bilateral ptosis. Mitochondrial encephalomyopathy was suspected, based on the clinical picture and results of examinations, but the typical red ragged fibers were not found in the muscle biopsy. The results of molecular analysis of mtDNA showed a mtDNA deletion in the muscle and, on a level detectable only with polymerase chain reaction method, in blood leukocytes. This case emphasizes the important role of mtDNA studies in muscle in nonspecific multisystem mitochondrial disorders, even without clinical muscle involvement

Anterior abdominal fixation — a new option in the surgical treatment of pelvic organ prolapse

Objectives: To present anterior abdominal fixation — a new surgical technique for the treatment of pelvic organ prolaps (POP) and to evaluate the results of the treatment of patients with stage III and IV POP operated using this technique.Material and methods: Anterior abdominal fixation for treating stage III and IV POP was carried out in 42 women, who were qualified according to the Pelvic Organ Prolapse Quantification System (POP-Q) scale at baseline and after 12 months. The Pelvic Floor Disability Index-20 (PFDI-20), along with its symptom scales, were evaluated.Results: The mean age 42 operated women was 64.5 years, and the average BMI was 27.3 (83% women were overweight). At baseline, 29 (69%) women had POP stage IV, and 13 (31%) women had POP stage III. Overall, 14 (33%) underwent laparoscopy, 28 (67%) underwent laparotomy. At 12 months, 14 (33.3%) women had POP stage I; 21 (50%) women had POP stage II. Seven patients (16.6%) experienced a recurrence of disease with advancement at the degree of III/IV; 4 (9.5%) women required adjuvant surgery in the form of anterior and posterior vaginal wall surgery. No early complications after surgery were observed. The comparison of the results before and after surgery showed statistically significant improvement in terms of the P-QoL score as well as PFDI-20 along with its 3 symptom scales.Conclusions: Anterior abdominal fixation of the uterus to the anterior abdominal wall is effective, safe, and technically easy to perform in the treatment of POP of advanced stage

Why business angels reject investment opportunities: Is it personal?

A major focus of research on business angels has examined their decision-making processes and investment criteria. As business angels reject most of the opportunities that they receive, this article explores the reasons informing such decisions. In view of angel heterogeneity, investment opportunities might be expected to be rejected for differing reasons. Two sources of data are used to examine this issue. Face-to-face interviews with 30 business angels in Scotland and Northern Ireland provided information on typical ‘deal killers’. This was complemented by an Internet survey of United Kingdom that attracted responses from 238 UK business angels. The findings confirm that the main reason for rejection relates to the entrepreneur/management team. However, angel characteristics do not explain the number of reasons given for opportunity rejection nor do they predict the reasons for rejecting investment opportunities. This could be related to the increasing trend for business angels to join organised groups which, in turn, leads to the development of a shared repertoire of investment approaches. We suggest the concept of ‘communities-of-practice’ as an explanation for this finding