rss_2.0Medicine FeedSciendo RSS Feed for Medicine Feed Palmitoyltransferase-II Deficiency: Case Presentation and Review of the Literature<abstract><title style='display:none'>Abstract</title><p>Carnitine palmitoyltransferase-II deficiency, an autosomal recessive disorder, is the most common cause of recurrent rhabdomyolysis in adults. Recognition and avoidance of triggers, such as heavy exercise and stress, is key in prevention of further episodes; however, even with preventative measures, many patients will continue to experience periodic symptoms, including rhabdomyolysis. Avoidance of renal failure, correction of electrolyte disturbances and halting further muscle breakdown are the goals of treatment. It is essential for clinicians to recognize the signs and symptoms of acute disease in CPT-II deficiency. We present a case of recurrent rhabdomyolysis requiring hospitalization in a patient with CPT-II deficiency and review the literature for common clinical manifestations, diagnostics, and treatment strategies.</p></abstract>ARTICLE2021-06-12T00:00:00.000+00:00Perceptions of coaching success: an exploratory analysis of Czech coaches views on success<abstract><title style='display:none'>Abstract</title><p>A philosophical framework for success in coaching is established, upon which the results of 571 coaches’ views of success in coaching is consequently evaluated. The coaches are Czech nationals from seven sports, who coach all age groups from U8 to adult professional teams, with length of experience ranging from 1 to 26 years (mean 7.1). Success definitions were coded and categorized before being analyzed across sport, age group coached, experience and licensing level. Hal-lowell’s success cycle is used as a standard of evaluation. Results were also assessed in terms of modern coaching philosophies. Overall, it was shown that the most common definition of success by coaches fell into the Sport Growth domain (31.7%), by which they primarily meant Player Development (20.6% of these coaches). The second most common domain for defining success was Performance (28.2%), primarily defined in terms of Winning (15.5%). Emotional Growth (21.1%) and Personal Growth (7.6%), though emphasized in modern coaching philosophies, were largely undervalued by Czech coaches. Enjoyment, a key element of success from Aristotle to Seligman, and essential to Hallowell’s success cycle was evident in only a small number (5.6%) of the success definitions of coaches.</p></abstract>ARTICLE2021-06-12T00:00:00.000+00:00A needs assessment study on refugees’ inclusion through physical education and sport. Are we ready for this challenge?<abstract><title style='display:none'>Abstract</title><p>In recent years, European countries have become hosting destinations for thousands of people who have been forced to leave their home countries. Greece is one of the main European hosting countries of refugees, especially children. Thus, the pupil population is gradually changing and the need for intercultural education is increasing. Physical education (PE) and sports have been recorded as suitable contexts for this process. However, there are still many challenges present in these contexts. The following study attempts to present the perceptions of PE teachers, coaches, and academics on the inclusion of refugees in PE and sports. Fifteen PE teachers/coaches and academics involved in the field of intercultural education participated in the study. A phenomenological approach was followed through semi-structured interviews. The method of thematic analysis was chosen to analyze the data. While all the participants considered PE and sports to be the most suitable contexts for the inclusion of refugees, they emphasized certain barriers to be overcome: the lack of training for PE teachers and coaches, prejudices of the parents of both natives and refugees, and refugees’ socioeconomic status and gender issues. Participants also shared their ideas for an adequate training program to improve PE teachers’ and coaches’ attitudes and promote their knowledge and skills regarding the inclusion of refugees. The participants underlined the need for intercultural education and well-structured training programs to properly manage culturally diverse environments.</p></abstract>ARTICLE2021-06-12T00:00:00.000+00:00Learning to teach and play futsal using digital tablets: What knowledge do sports science students mobilize?<abstract><title style='display:none'>Abstract</title><p>There is little research on the knowledge mobilized by sports science students when they learn to play a sport by learning to teach it. This study focuses on the benefits of using digital tablets to foster this learning during a university teaching module in futsal with students in the second year of a sports science bachelor’s degree. We compare the knowledge mobilized by these students during self-confrontation interviews (based on video recordings of the sessions), game situations, reciprocal coaching and debates of ideas. We then identify the nature of this knowledge and the strategies for its mobilization in context using a framework mainly based on didactics in physical education (Amade-Escot, 2006; Armour, 2011) and on pedagogical content knowledge studies (Shulman, 1986). The students were divided into two experimental conditions following the same pedagogical curriculum. The students in condition 1 used digital tablets to film themselves, tag videos and discuss the recordings. The students in condition 2 did not use tablets. The interviews were conducted twice during the teaching module: first during period 1 (beginning of the module) and then during period 2 (end of the module). The results show that students in condition 1 were more likely to mobilize shared knowledge, make decisions through cooperation and even devolve the construction of tactical reasoning and knowledge by their peers following the didactic approach of the faculty teacher as early as period 1. This promoted access to the construction and meaning of teaching and learning content. These results are discussed in light of the current challenges within educational systems and of the joint development of interactional skills for learning to cooperate and even to teach.</p></abstract>ARTICLE2021-06-12T00:00:00.000+00:00The effect of hopelessness on violence tendency: Turkish football fans<abstract><title style='display:none'>Abstract</title><p>This study aimed to analyze the relationship between the hopelessness and violence tendency of football fans and to investigate the differences between these variables and various demographic variables. The research group was formed by 398 male volunteer football fans who watched the Elazigspor (Sports Toto 1<sup>st</sup> League) matches in the 2018-2019 season in Turkey. In addition to demographic variables in the study, the Violent Trend Scale and Beck Hopelessness Scale were used. The SPSS program was used to analyze the data. Independent sample t-test, one-way ANOVA, pearson correlation, and linear regression analysis were used in the analysis of the data. In the findings of the research, it was determined that there was a moderate positive relationship between the variable of hopelessness and the tendency toward violence. It was determined that there was a statistically significant difference in the tendency toward violence according to the variables of fans going to away games, the duration of watching matches at the stadium, and with whom fans watched the matches. As a result, as the level of fans’ hopelessness increased, it was observed that there was an increase in violent tendencies. In addition, those who went to watch away matches, those who watched matches at the stadium for a long period of time, and those who went to watch matches with friends were found to have high levels of violent tendencies.</p></abstract>ARTICLE2021-06-12T00:00:00.000+00:00Contribution to the study of improving the aesthetics of the smile by repairing and reshaping the incisors with composite materials.<abstract> <title style='display:none'>Abstract</title> <p>Introduction. Dental aesthetics, although it seems something relative and difficult to evaluate, it is governed by a series of laws and rules that connect the dental disciplines, creating a unitary whole. It is structured by rules, perfected by artistic sense and by the inclination towards beauty of all specialists in dento-facial cosmetics.</p> <p>The aim of the study is to highlight an overview of aesthetic factors to consider when restoring anterior teeth with direct composite materials.</p> <p>Material and methods. A total of 25 patients were included in the study where the anterior teeth were restored using Gradia Direct Anterior (from GC) and Filtek Z550 (from3M-ESPE) composite kits, in perfect isolation using rubber damn, with a separate appointment after 24 hours for the polishing step, for which Rainbow Kit Technic and polishing Platina Hi-Gloss (from Prevest) paste were used. While the replacement of the tooth defect, we ensured that the composite increment, which we used should not be more than 2mm in thickness, and light cured for 20 seconds as the producer recommends. In none of all tooth shape modification (elongation in incisal zone) we did not modify the occlusion, by eliminating all premature contacts. All patients included in the study have signed the informed consent and agreed to participate in this research.</p> <p>Results. From a total of 25 patients, we repaired 20 central incisors with the mesial (18 cases) or distal (2 cases) angles fractured, in different accidents, 5 cases with diastema by small shape of the crown or malposition of one of the central incisors.</p> <p>Conclusions. Restoring the incisal angle or the incisal edge and refining a natural and improved smile of the patient is e very frequent dental intervention, especially nowadays when aesthetics plays an important role in the social society.</p> </abstract>ARTICLE2021-06-12T00:00:00.000+00:00Efficiency of different instruments used for composite filling polishing.<abstract> <title style='display:none'>Abstract</title> <p>Introduction: Improper finishing and polishing of fillings leads to surface roughness of the restoration which leads to excessive plaque accumulation, gingival irritation, increased surface staining and poor aesthetics of restored teeth. Therefore, it is essential to use polishing instruments and pastes as a final step of simple caries treatment in order to achieve optimal long-time results. The aim of this study is to evaluate the efficiency of 4 different finishing and polishing instruments used for surface smoothening of aesthetic restorative materials in vitro. Materials and methods: 40 composite (Reality X) samples were prepared in vitro. Their surface irregularities were measured along 3 diagonals before and after polishing. Sof-Lex discs (3M Espe), rubber cones (Kenda), Arkansas stone (Fino) and polishing paste and a professional toothbrush (Kerr) were used for polishing. Each sample was polished under 5N pressure for 30 seconds at 3000 rpm. The surface roughness was than measured using a profilometer. Statistic analysis was performed using ANOVA and unpaired T-tests, the significance level was set at a value of p&lt;0.05. Results: Based on the mean values, the smallest roughness was found in the control group- 0.11, while the highest in the rubber polishers and Arkansas stone group- 0.47 and 0.48. The values for the Sof-Lex disc group and the polishing paste-toothbrush group were 0.40 and 0.39. Statistical analysis showed no significant differences between the four groups. Conclusion: It is mandatory to use polishing tools in order to obtain a smooth surface of the restoration and avoid the unwanted long-term complications. Polishing using brush and abrasive paste produced the smoothest surface of the composite.</p> </abstract>ARTICLE2021-06-12T00:00:00.000+00:00Fear and dental anxiety in children: a study of the contributing factors.<abstract> <title style='display:none'>Abstract</title> <p>Introduction: Dental fear and anxiety are an important issue affecting children’s oral health and clinical management, and also an insufficiently studied subject in dentistry.</p> <p>Aim of the study: The aim of this study was to better understand the child patient - dentist versus dentist - child patient relationship and study the dental fear and anxiety of children in order to improve the dental office practice. Material and methods: In this study a personalized questionnaire was created and applied on a number of 333 children, in 4 schools from Mures county, Romania, on girls and boys between the ages of 8 and 13. The questionnaires used emoticons alongside words in order to better determine the state of anxiety created by the dental appointment and everything that it entails. All data and results obtained were analyzed using Excel and Graph Pad Prism 5.0 software.</p> <p>Results: Out of 333 patients, 133 subjects (40%) were 8-10-year-old, 143 subjects (42.9%) 11 - 13 years and 57 subjects (17.1%) were over 14 years. 175 girls (52.6%) and 158 boys (47.4%) demonstrated their courage and desire in participating in our study. It was determined that fear of dental appointments was caused in children over 14 years of age. The state of relaxation is generally enjoyed by urban children (45%) and those aged 11-13 years (37.1%); the percentage of boys in this category is an interesting aspect (40.5%).</p> <p>Conclusion: Dental anxiety is multifactorial and is far more complex than can be explained by a single contributing factor. The direct involvement of the child from the perspective of maintaining dental health, leads to the elimination of the state of fear and anxiety. Regular visits to the dental office, on the initiative of the child patient itself can reduce the anguish.</p> </abstract>ARTICLE2021-06-12T00:00:00.000+00:00Job strain in German novice physical therapists<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Introduction</title><p>International research shows high levels of job demands and psychological resources for physical therapists, and job strain is considered to be moderate. So far, publications are based on therapists with varying length of service. Little is known about job strain during the first year in the profession.</p></sec> <sec><title style='display:none'>Aim</title><p>To investigate the level of job strain of German novice physical therapists and to identify common workplace stressors.</p></sec> <sec><title style='display:none'>Methods</title><p>We conducted a web-based survey among physical therapists who had been working for 12 month or less. Using a self-administrated questionnaire, job strain was measured by its effects on work commitment, general health, job satisfaction, burnout and turnover intention. Subgroup analyses based on age, sex and rating of professional training were performed. Stressors at work were evaluated by priority and frequency of appearance.</p></sec> <sec><title style='display:none'>Results</title><p>Data of 153 physical therapists was analysed. Low levels of job strain were reported. Novice physical therapists showed high levels of workplace commitment and general health, and low levels of turnover. Moderate ratings were recorded for job satisfaction and symptoms of burnout. Inadequate compensation for work, high caseload, time pressure and physical stress were the most common stressors mentioned. Therapists who rated their professional training as positive reported lower levels of job strain. No significant differences between women and men or between therapists of different age were found.</p></sec> <sec><title style='display:none'>Conclusion</title><p>Although many workplace stressors are reported, novice physical therapists show low levels of job strain. Vocational training may be one important protective factor with regard to job strain.</p></sec> </abstract>ARTICLE2021-06-11T00:00:00.000+00:00Editorial unterstützte interprofessionelle Zusammenarbeit im ambulanten Setting: Bedarfe, Erwartungen und Barrieren in der Ergotherapie, Logopädie und Physiotherapie – eine qualitative Studie<trans-abstract xml:lang="en"> <title style='display:none'>Abstract</title> <p>Complex clinical pictures, networking of the professional groups, and digitalization of the health care system make high demands on health professionals in Germany, especially regarding interprofessional collaboration. The study aims to investigate therapist's needs, expectations, concerns, and ideas, how a digitally supported collaboration can facilitate these challenges in an outpatient setting. Using qualitative methods, two focus groups were conducted. Therapists were initially asked about their perceptions of interprofessional collaboration and their current use of digital media in their work life. The next step was to determine wishes and requirements for a digital medium to support interprofessional collaboration. Applying Qualitative Text Analysis according to Kuckartz, statements were summarized in main categories like “Professional self-image of health professionals”, “Concerns regarding interprofessional collaboration” and “Wishes for a digital medium”. Main categories were consolidated into a concept map. The result is an initial definition of “digital interprofessional cooperation” which describes a digitally supported interprofessional collaboration to improve communication and patient care. In addition, a framework was developed which represents the therapists’ ideas about a digital medium. This framework contains basic conditions for use, e. g. data protection, as well as desired functions and design ideas, like a forum and intuitive user interface. The results confirm barriers as found in literature and underline the discrepancy of therapist's wishes and the system's possibilities. The initial definition of “digital interprofessional collaboration” introduces a new perspective on interprofessional collaboration including digitalization in the health care system. The framework's criteria can be incorporated into the development of a first prototype.</p> </trans-abstract>ARTICLE2021-06-11T00:00:00.000+00:00Editorial enterovirus infections in infants <3 months of age and the importance of medical history<abstract> <title style='display:none'>Abstract</title> <sec id="j_jmotherandchild.20202403.2022.d-20-00007_s_009"> <title style='display:none'>Background</title> <p>Enteroviral infections in infants &lt;3 months of age are frequent and under-diagnosed even though they can be life-threatening. Properly conducted subjective examination, which is repeatedly neglected, plays a key role in the diagnosis and treatment of these infections.</p> </sec> <sec id="j_jmotherandchild.20202403.2022.d-20-00007_s_010"> <title style='display:none'>Materials and methods</title> <p>Analyses included children &lt;3 months of age with confirmed enterovirus infection, hospitalised in the Department of Paediatrics from January 2019 to February 2020. Infections were confirmed by reverse transcription polymerase chain reaction in the cerebrospinal fluid using Neuro9 FTD set and in the stool using PB-03/Neuro; antibodies were determined in one patient.</p> </sec> <sec id="j_jmotherandchild.20202403.2022.d-20-00007_s_011"> <title style='display:none'>Results</title> <p>This study presents a detailed description of three cases with confirmed enterovirus infection and a positive epidemiological history. The cases involve viral sepsis, myocarditis with arrhythmia and circulatory failure, and meningitis with seizures. In addition, the details of 10 patients hospitalised in the Children’s Clinic with a confirmed enterovirus infection are presented. Based on these cases, a significant influence of family history-taking on the diagnosis and implementation of appropriate treatment was found.</p> </sec> <sec id="j_jmotherandchild.20202403.2022.d-20-00007_s_012"> <title style='display:none'>Conclusion</title> <p>In most of the analysed cases, family history of viral infection was positive. In patients with the most severe course of the enterovirus infection, accurate epidemiological history is extremely important, and the suspicion of viral infection and securing appropriate materials for testing may significantly speed up the diagnosis in the newborn and help to implement an appropriate treatment.</p> </sec> </abstract>ARTICLE2021-01-29T00:00:00.000+00:00Overgeneralisation effect in trait inferencing about a child with craniofacial microsomia by medical students and child’s relatives<abstract> <title style='display:none'>Abstract</title> <sec id="j_jmotherandchild.20202403.2025.d-20-00010_s_006"> <title style='display:none'>Background</title> <p>The study uses the <italic>Overgeneralisation Effect Scale</italic> (<italic>OES</italic>) developed by K. Milska and A. Mański to estimate the overgeneralisation effect in trait inferencing about children with craniofacial anomalies, which involved university students (future health professionals) and relatives of children with craniofacial microsomia (<italic>CFM</italic>). The practical purpose of the study was to provide evidence supporting the benefits of using the <italic>OES</italic> to improve the outcomes of child rehabilitation.</p></sec> <sec id="j_jmotherandchild.20202403.2025.d-20-00010_s_007"> <title style='display:none'>Methods</title> <p>The <italic>OES</italic> (Polish: <italic>Skala Efektu Nadgeneralizacji</italic>) was administered to a group of 843 university students of medical/caring professions and 26 parents/guardians of children with craniofacial anomalies. The responses of 757 subjects were included in the analysis.</p></sec> <sec id="j_jmotherandchild.20202403.2025.d-20-00010_s_008"> <title style='display:none'>Results</title> <p>Different trait profiles of a child with <italic>CFM</italic> were obtained. The carer appraisal of their child tended to be very positive across all items. The student appraisals were definitely less positive and more varied. A range of factors which may affect trait impression leading to overgeneralisation in trait inferencing about a child with <italic>CFM</italic> have been identified, including familiarity with the child, craniofacial anomaly suggestive of more severe disability, emotional expression and the relationship to the child.</p></sec> <sec id="j_jmotherandchild.20202403.2025.d-20-00010_s_009"> <title style='display:none'>Conclusion</title> <p>The behaviour of the carers and professionals towards children with <italic>CFM</italic> undergoing diagnostic assessment, treatment and rehabilitation is determined by how each of them perceives the child. The presence of anomaly increases the likelihood of overgeneralisation effect both in carers and professionals. The <italic>OES</italic> may be one of the instruments to detect/measure these differences to improve the outcomes of child rehabilitation</p></sec></abstract>ARTICLE2021-01-29T00:00:00.000+00:00Amniotic fluid lactate level as a diagnostic tool for prolonged labour<abstract> <title style='display:none'>Abstract</title> <p>Prolonged labour can lead to postpartum complications and adverse outcomes for both mother and baby. Measurable parameters can help in the active management of labour, timely diagnosis of dystocia and in the choice of the method of delivery. Progressive uterine contractions are necessary to complete labour successfully. Myometrial fatigue during prolonged labour causes a change from aerobic to anaerobic metabolism, resulting in an accumulation of intramuscular lactic acid and probably a subsequent increase in amniotic fluid lactate concentration. High amniotic fluid lactate level has been associated with ineffective uterine contractions leading to labour arrest. A considerable number of studies conducted so far indicate that the level of lactate in amniotic fluid may be a new non-invasive diagnostic tool for early prediction of prolonged labour and the need for immediate obstetric intervention. Low amniotic fluid lactate level may facilitate a decision to continue vaginal labour by oxytocin augmentation. A high level of amniotic fluid lactate is associated with surgical obstetric procedures. Measuring amniotic fluid lactate level might simplify the patient’s allocation to a group, which will benefit from the administration of oxytocin and to a group that will not benefit from further prolongation of labour. This study aimed to briefly review current knowledge on amniotic fluid lactate concentrations measured using standard biochemical methods during the first stage of labour following normal pregnancy, as a possible diagnostic tool for prolonged labour. For this purpose, PubMed, EMBASE, Medline (1990 to July 2020) trials register and reference lists of relevant articles were searched.</p></abstract>ARTICLE2020-12-03T00:00:00.000+00:00The effects of the addition of a new airway clearance device to chest physiotherapy in children with cystic fibrosis pulmonary exacerbations<abstract> <title style='display:none'>Abstract</title> <sec id="j_jmotherandchild.20202403.2013.d-20-00008_s_005"> <title style='display:none'>Background</title> <p>Chest physiotherapy plays a crucial role in managing cystic fibrosis, especially during pulmonary exacerbations. This study evaluated the effects of adding a new airway clearance device to chest physiotherapy in subjects with cystic fibrosis hospitalised due to pulmonary exacerbations.</p> </sec> <sec id="j_jmotherandchild.20202403.2013.d-20-00008_s_006"> <title style='display:none'>Methods</title> <p>This prospective open-label study was carried out at the Pediatric Cystic Fibrosis Centre in Poland between October 2017 and August 2018. Cystic fibrosis patients aged 10 to 18 years who were admitted to the hospital and required intravenous antibiotic therapy due to pulmonary exacerbations were consecutively allocated (1:1) to either chest physiotherapy alone or chest physiotherapy with a new airway clearance device (Simeox; PhysioAssist). Patients performed spirometry and multiple-breath nitrogen washout for lung clearance index assessment upon admission and prior to discharge.</p> </sec> <sec id="j_jmotherandchild.20202403.2013.d-20-00008_s_007"> <title style='display:none'>Results</title> <p>Forty-eight cystic fibrosis patients were included (24 in each group). Spirometry parameters in both groups improved significantly after intravenous antibiotic therapy. A significant improvement in the maximum expiratory flow at 25% of forced vital capacity was observed only in the group with a new airway clearance device (p &lt; 0.01 vs. baseline). Trends towards a lower lung clearance index ratio were similar in both groups. No adverse events were observed in either group.</p> </sec> <sec id="j_jmotherandchild.20202403.2013.d-20-00008_s_008"> <title style='display:none'>Conclusions</title> <p>Spirometry parameters increased significantly in cystic fibrosis patients treated for pulmonary exacerbations with intravenous antibiotic therapy and intensive chest physiotherapy. The new airway clearance device was safe and well tolerated when added to chest physiotherapy and may be another option for the treatment of pulmonary exacerbation in cystic fibrosis.</p> </sec> </abstract>ARTICLE2021-01-26T00:00:00.000+00:00Immunoglobulins content in colostrum, transitional and mature milk of Bangladeshi mothers: Influence of parity and sociodemographic characteristics<abstract> <title style='display:none'>Abstract</title> <sec id="j_jmotherandchild.20202403.2032.d-20-00001_s_007"> <title style='display:none'>Background</title> <p>The study investigated the concentration of IgA, IgM and IgG in colostrum, transitional and mature milk and the effect of parity, age, BMI and family income on secreted immunoglobulin contents of human milk.</p> </sec> <sec id="j_jmotherandchild.20202403.2032.d-20-00001_s_008"> <title style='display:none'>Methods</title> <p>Sequential samples of colostrum, transitional and mature milk were collected from 38 women. Enzymelinked immunosorbent assay was used to analyse the immunoglobulin concentrations.</p> </sec> <sec id="j_jmotherandchild.20202403.2032.d-20-00001_s_009"> <title style='display:none'>Results</title> <p>The study revealed that IgA was the dominant immunoglobulin and mean concentration in colostrum, transitional and mature milk was 5.92 ± 1.50 g/L, 3.85 ± 0.64 g/L and 3.72 ± 0.68 g/L, respectively. Both IgA and IgM levels of colostrum decreased significantly in both transitional (<italic>P</italic> = 0.000) and mature milk (<italic>P</italic> = 0.000), while the concentration of IgG rises significantly in them (colostrum <italic>vs</italic>. transitional milk, <italic>P</italic> = 0.000; and colostrum <italic>vs</italic>. mature milk <italic>P</italic> = 0.011). While maternal age, BMI and family income had no significant influence on the immunoglobulin levels at different stages of lactation, parity showed significant influence on IgG (<italic>P</italic> = 0.03) and IgM (<italic>P</italic> = 0.05) levels of transitional milk and IgA level of colostrum (<italic>P</italic> = 0.05).</p> </sec> <sec id="j_jmotherandchild.20202403.2032.d-20-00001_s_010"> <title style='display:none'>Conclusion</title> <p>The findings suggest that immunoglobulin composition in breast milk is strongly associated with stage of lactation and is likely to be more susceptible to parity than BMI and socioeconomic characteristics.</p> </sec> </abstract>ARTICLE2021-01-29T00:00:00.000+00:00The haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*)<abstract> <title style='display:none'>Abstract</title> <p>The Mediator complex subunit 13-like is a part of the large Mediator complex. Recently, a large number of patients were diagnosed with mutations in this gene, which makes it one of the most frequent causes of syndromic intellectual disability. In this work, we report a patient with a novel <italic>de novo</italic> likely pathogenic variant c.5941C&gt;T, p.(Gln1981*) in the <italic>MED13L</italic> gene with severe intellectual disability and facial dysmorphism. Uncommon findings like lack of speech, strabismus and self-destructive behaviour present in our patient allowed us to further define the phenotypic spectrum of mental retardation and distinctive facial features with or without cardiac defects syndrome.</p></abstract>ARTICLE2021-04-30T00:00:00.000+00:00Dress syndrome in 7-year-old male child – case report<abstract> <title style='display:none'>Abstract</title> <p>Drug rash with eosinophilia and systemic symptoms (DRESS) is a severe drug-induced hypersensitivity reaction, which, due to the asymptomatic beginning and non-specific nature of symptoms, is hard to identify. This report presents the case of a 7-year-old boy, who was referred to the Department of Paediatric Surgery with fever up to 38°C, vomiting and diarrhoea, accompanied by erythematous, maculopapular rash. Based on laboratory and radiology tests and specific diagnostic criteria, DRESS syndrome was diagnosed. The presented case report emphasises the need to carry out differential diagnosis, including the potentially life-threatening DRESS syndrome, with common symptoms in children such as fever and rash.</p></abstract>ARTICLE2021-01-12T00:00:00.000+00:00Electrical impedance to easily discover undeclared freeze-thaw cycles in slaughtered bovine meat<abstract><title style='display:none'>Abstract</title><p>A portable electrical impedance spectroscopy device was developed to monitor the bioimpedance resistive component of bovine meat by injecting a sinusoidal current of 1 mA at 65 kHz. Both right and left longissimus dorsi muscles were trimmed from 4 slaughtered cows. The left muscle portions were frozen to −18 °C for 7 days while the right ones were meantime maintained at 5 °C. Mean value of impedance per length (Ω/cm) of frozen and thawed left samples was 31% lower than that of right non-frozen one (P = 0.0001). It was concluded that the device is reliable for monitoring the maturation of beef meat in situ with the possibility of revealing undeclared freeze-thaw cycles.</p></abstract>ARTICLE2021-03-30T00:00:00.000+00:00en-us-1