Mid-Term and Long-Lasting Psycho-Cognitive Benefits of Bidomain Training Intervention in Elderly Individuals with Mild Cognitive Impairment.

Background: This study investigated whether combining simultaneous physical and cognitive training yields superior cognitive outcomes compared with aerobic training alone in individuals with mild cognitive impairment (MCI) and whether these benefits persist after four weeks of detraining. Methods: Forty-four people with MCI (11 males and 33 females) aged 65 to 75 years were randomly assigned to an 8-week, twice-weekly program of either aerobic training (AT group, n = 15), aerobic training combined with cognitive games (ACT group, n = 15), or simply reading for controls (CG group, n = 14). Selective attention (Stroop), problem-solving (Hanoi Tower), and working memory (Digit Span) tasks were used to assess cognitive performances at baseline, in the 4th (W4) and 8th weeks (W8) of training, and after 4 weeks of rest (W12). Results: Both training interventions induced beneficial effects on all tested cognitive performance at W4 (except for the number of moves in the Hanoi tower task) and W8 (all p <0.001), with the ACT group exhibiting a more pronounced positive impact than the AT group (p < 0.05). This advantage was specifically observed at W8 in tasks such as the Stroop and Tower of Hanoi (% gain ≈40% vs. ≈30% for ACT and AT, respectively) and the digit span test (% gain ≈13% vs. ≈10% for ACT and AT, respectively). These cognitive improvements in both groups, with the greater ones in ACT, persisted even after four weeks of detraining, as evidenced by the absence of a significant difference between W8 and W12 (p > 0.05). Concerning neuropsychological assessments, comparable beneficial effects were recorded following both training regimens (all p < 0.05 from pre- to post-intervention). The control group did not show any significant improvement in most of the cognitive tasks. Conclusions: The greater mid-term and long-lasting effects of combined simultaneous physical-cognitive training underscores its potential as a cost-effective intervention for the prevention and management of cognitive decline. While these results are valuable in guiding optimal physical and mental activity recommendations for adults with MCI, further neurophysiological-based studies are essential to offer robust support and deepen our understanding of the mechanisms underlying these promising findings.

BRAF V600E and Novel Somatic Mutations in Thyroid Cancer of Libyan Patients.

BACKGROUND: Thyroid cancer (TC) is a common endocrine malignancy that frequently harbours the oncogenic V600E BRAF mutation. This mutation has received considerable attention in recent years for its potential utility in the risk stratification and management of TC. This study aims to investigate BRAF mutational status in thyroid cancer of Libyan patients and their association with clinicopathological factors. METHODS: 44 thyroid tissue samples were analysed for mutations in exon 15 of the BRAF gene by performing polymerase chain reaction and Sanger sequencing. The results of BRAF mutation screening were correlated to clinical and pathological characteristics of the studied thyroid cancer patients. Statistical analyses were performed using SPSS. RESULTS: The BRAF exon 15 mutations were detected in 19 (43.2%) of the thyroid cancer cases. The V600E was the most frequent one found in 15/44 (34.1%) cases. We also detected 6 other variants in 7 patients (15.9%), the S616F, the W619R and the T599S. Three mutations were associated with V600E, the L584I, the D587Y and the synonymous L597L. None of these mutations were reported previously in thyroid cancers. No statistical association was found between BRAF mutations and clinicopathological factors except with papillary thyroid cancer type (p= 0,032). CONCLUSIONS: Novel BRAF mutations and V600E were frequently detected in thyroid cancer of Libyan patients; this suggests a potential role of these novel mutations in carcinogenesis and in anti-EGFR therapy resistance.

Acute Exercise and Cognitive Function in Alzheimer's Disease.

BACKGROUND: Many studies have shown the impact of acute aerobic exercises (AAE) on cognition in healthy adults or at a pre-dementia stage. Few studies, however, have explored the positive effects of AAE in moderate Alzheimer's disease (ADM) patients. OBJECTIVE: Evaluating the effect of AAE on cognitive functions in ADM patients. METHODS: Overall, 79 (age: 69.62±0.99) ADM patients were recruited. Participants were divided into three groups according to the task: aerobic exercises done alone or combined with cognitive games presented on a screen, and a control group who performed a reading task. The aerobic exercise protocol consisted of a 20-min cycling exercise of moderate intensity, corresponding to 60%of the individual target maximal heart rate recorded in a 6-minute walking test. The participants' cognition was monitored before and after the intervention using the Tower of Hanoi, Digit Span, and Stroop tasks. RESULTS: After the exercise, the participants' attention in both the physical and combined groups improved for the Stroop, the forward and backward Digit Span tasks, as well as the time taken to solve the Tower of Hanoi, although no significant differences were found in the number of moves taken in the latter. By contrast, the control group did not show any significant improvement for most of the cognitive tasks after the reading session. CONCLUSION: Current evidence suggests that AAE may help to improve cognitive functions in ADM patients. This improvement is enhanced when the exercise is combined with cognitive games. Safe and progressive types of exercises should be promoted among ADM patients.

Vision-based serious games and virtual reality systems for motor rehabilitation: A review geared toward a research methodology.

BACKGROUND: Nowadays, information technologies are being widely adopted to promote healthcare and rehabilitation. Owing to their affordability and use of hand-free controllers, vision-based systems have gradually been integrated into motor rehabilitation programs and have greatly drawn the interest of healthcare practitioners and the research community. Many studies have illustrated the effectiveness of these systems in rehabilitation. However, the report and design aspects of the reported clinical trials were disregarded. OBJECTIVE: In this paper, we present a systematic literature review of the use of vision-based serious games and virtual reality systems in motor rehabilitation programs. We aim to propose a research methodology that engineers can use to improve the designing and reporting processes of their clinical trials. METHODS: We conducted a review of published studies that entail clinical experiments. Searches were performed using Web of Science and Medline (PubMed) electronic databases, and selected studies were assessed using the Downs and Black Checklist and then analyzed according to specific research questions. RESULTS: We identified 86 studies and our findings indicate that the number of studies in this field is increasing, with Korea and USA in the lead. We found that Kinect, EyeToy system, and GestureTek IREX are the most commonly used technologies in studying the effects of vision-based serious games and virtual reality systems on rehabilitation. Findings also suggest that cerebral palsy and stroke patients are the main target groups, with a particular interest on the elderly patients in this target population. The findings indicate that most of the studies focused on postural control and upper extremity exercises and used different measurements during assessment. CONCLUSIONS: Although the research community's interest in this area is growing, many clinical trials lack sufficient clarity in many aspects and are not standardized. Some recommendations have been made throughout the article.

Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins.

BACKGROUND: Lynch syndrome (LS) is a highly penetrant inherited cancer predisposition syndrome, characterized by autosomal dominant inheritance and germline mutations in DNA mismatch repair genes. Despite several genetic variations that have been identified in various populations, the penetrance is highly variable and the reasons for this have not been fully elucidated. This study investigates whether, besides pathogenic mutations, environment and low penetrance genetic risk factors may result in phenotype modification in a Tunisian LS family. PATIENTS AND METHODS: A Tunisian family with strong colorectal cancer (CRC) history that fulfill the Amsterdam I criteria for the diagnosis of Lynch syndrome was proposed for oncogenetic counseling. The index case was a man, diagnosed at the age of 33 years with CRC. He has a monozygotic twin diagnosed at the age of 35 years with crohn disease. Forty-seven years-old was the onset age of his paternal uncle withCRC. An immunohistochemical (IHC) labeling for the four proteins (MLH1, MSH2, MSH6 and PMS2) of the MisMatchRepair (MMR) system was performed for the index case. A targeted sequencing of MSH2, MLH1 and a panel of 85 DNA repair genes was performed for the index case and for his unaffected father. RESULTS: The IHC results showed a loss of MSH2 but not MLH1, MSH6 and PMS2 proteins expression. Genomic DNA screening, by targeted DNA repair genes sequencing, revealed an MSH2 pathogenic mutation (c.1552C>T; p.Q518X), confirmed by Sanger sequencing. This mutation was suspected to be a causal mutation associated to the loss of MSH2 expression and it was found in first and second degree relatives. The index case has smoking and alcohol consumption habits. Moreover, he harbors extensive genetic variations in other DNA-repair genes not shared with his unaffected father. CONCLUSION: In our investigated Tunisian family, we confirmed the LS by IHC, molecular and in silico investigations. We identified a novel pathogenic mutation described for the first time in Tunisia. These results come enriching the previously reported pathogenic mutations in LS families. Our study brings new arguments to the interpretation of MMR expression pattern and highlights new risk modifiers genes eventually implicated in CRC. Twins discordance reported in this work underscore that disease penetrance could be influenced by both genetic background and environmental factors.

Mucosal human papillomavirus detection and TP53 immunohistochemical expression in non-melanoma skin cancer in Tunisian patients.

BACKGROUND: Several studies have reported the oncogenic role of human papillomavirus (HPV) in non-melanoma skin cancer (NMSC) carcinogenesis. Considering that HPV could affect tumor protein 53 (TP53) degradation via E6 oncoprotein, we evaluated the expression of TP53 according to HPV infection and E6 expression. METHODS: Biopsy specimens from 79 NMSCs (28 squamous cell carcinomas, 21 keratoacanthomas and 30 basal cell carcinomas) were enrolled. Nested PCR was used to detect mucosal HPV (mHPV) DNA. Genotyping was performed by reverse line hybridization. Expression of TP53 and E6 was evaluated by immunohistochemistry. RESULTS: mHPVs were detected in 34.2% (27/79) of NMSC, with 92.6% (25/27) of high-risk HPV (HR-HPV) types. HPV16-E6-positive expression was observed in all HPV16-positive samples. TP53 high expression was found in 51.4% (37/72) of specimens. In this group, 78.4% were HPV-negative (P = 0.014). TP53 expression was negative in 8/10 of HPV E6-positive specimens. Multivariate analysis showed that TP53 was associated with HPV infection independently of histopathologic type (P = 0.005). CONCLUSION: This study showed a high prevalence of mHPV in NMSC. Active infections assessed by E6 expression are associated with loss of p53 function, highlighting the involvement of mHPV in NMSC carcinogenesis.

Feasibility of Kinect-Based Games for Balance Rehabilitation: A Case Study.

We aimed at determining the effects of prototype games on older adults attending a rehabilitation program in an elderly house in this work. We conducted an initial case study where two participants underwent a 5-week intervention. Feasibility was assessed by examining recruitment, adherence, and safety. The Tinetti balance test was used as pretest and posttest assessments. Results show that adherence was very high and no adverse effects were registered during the sessions. The included participants also reported enjoyment during the playtime and exhibited improvements in Tinetti scores. The findings suggest that game-based rehabilitation can be useful for improving balance in elderly people and can be incorporated in a fall prevention program.

Global and regional lung function in cystic fibrosis measured by electrical impedance tomography.

BACKGROUND: Electrical impedance tomography (EIT) delivers information about global and regional ventilation. Linearity of EIT during tidal breathing is known. We investigated the feasibility of EIT during lung function tests in pediatric patients with cystic fibrosis (CF) and healthy controls. METHODS: Eleven CF patients and 11 age-matched controls underwent spirometry and simultaneous EIT. Global EIT results were scaled to spirometric forced vital capacity (FVC). Subsequently, global and regional "EIT-spirometry" was calculated and correlated with clinical findings, radiology, and lung function results before and after bronchospasmolysis (BSL). RESULTS: Spirometry and global EIT results correlated essentially (r2 = 0.71-1.0, P < 0.001). While lung function results were comparable for both groups, EIT demonstrated inhomogeneous ventilation and individual changes after BSL. CONCLUSIONS: EIT changes during forced expiration correlate with lung function parameters, clinical findings, and radiology. Regional analysis of EIT illustrates regional lung function and visualizes individual therapeutic effects. Pediatr Pulmonol. 2016;51:1191-1199. © 2016 Wiley Periodicals, Inc.