Predictors of overload in parents of children with neuromuscular diseases.

Introduction: Parents of children with neuromuscular diseases experience multiple difficulties in their daily lives that affect their physical and psychological health. The risk factors for these health issues have not been sufficiently investigated. Therefore, the aim of this study was to analyze the potential predictors of overload in these parents, including QoL, somatic symptomatology, life satisfaction, psychological adjustment and certain sociodemographic variables. Methods: A cross-sectional research study was conducted among parents who are caregivers for children with NMD in Spain. A convenience sample of 110 parents who were contacted by associations and hospitals was used. Variables were evaluated using the sociodemographic questionnaire, CarerQol-7D, PHQ-15, Barthel Index, Psychological Adaptation Scale, Zarit Overload Scale and Satisfaction with Life Scale. Results: One of the most relevant findings of the present study is the identification of 3 overload groups (mild to moderate, moderate to severe, and severe overload) based on life satisfaction and somatic symptom scores within the predictive model of the discriminate analysis. Wilk's lambda of the discriminant function was 0.568, χ2 (2, n = 55) = 8.815, p < 0.001. Discussion: This study presents a model that reveals the influence of unemployment, having a child with a severe level of dependency, the presence of somatic symptomatology and life satisfaction on caregiver overload. Likewise, the caregiver's self-esteem could be a protective factor against overload.

Cognitive Functioning in Adults with Phenylketonuria in a Cohort of Spanish Patients.

The early introduction of a low phenylalanine (Phe) diet has been demonstrated to be the most successful treatment in subjects with phenylketonuria (PKU), especially for preventing severe cognitive and neurological damages. However, it still concerns that even if treated in the first months of life with supplements and following a diet, they can show slight scores below people without PKU in neuropsychological assignments. We investigated 20 adults with classical PKU aged 19-48 years (mean age 29 years) and 20 heathy controls matched by age, gender, and years of education. Patients and controls were assessed with an extended neuropsychological battery, as well as psychological aspects and quality of life, also the last Phe level result was obtained. Results showed that the most affected cognitive domains are processing speed, executive functioning, memory, and also theory of mind, but very well-preserved verbal fluency, language, and visuospatial functioning. In quality of life, some significant results were seen specially in anxiety of Phe levels, anxiety of Phe levels during pregnancy, guilt if poor adherence to supplements, and if dietary protein restriction not followed. No significant results were obtained for the psychological variables. In conclusion, it has been shown that a combination of a low Phe diet, supplement intake, and keeping Phe levels in a low range seems appropriate to have the most normal and alike cognitive performance to persons without PKU.

Music therapy and Sanfilippo syndrome: an analysis of psychological and physiological variables of three case studies.

INTRODUCTION: Mucopolysaccharidosis type III (MPS III) or Sanfilippo syndrome is a neurodegenerative disease caused by the accumulation of mucopolysaccharides in the body. As the symptoms are wide ranging, it is a challenge to provide a diagnosis and psychological treatment for affected children. METHOD: The main objective of this study was to describe a form of music therapy treatment applied to three children diagnosed with MPS III. The psychological variables were evaluated by an ad hoc observation recording template, and the physiological variables were measured with a digital meter before and after each session. The perception of the parents was also considered through a semi-structured interview. RESULTS: An improvement in the psychological variables was shown in all cases. Changes in the physiological variables were also noted, although they varied according to each child. The parents report some benefit of music therapy and they share difficulty in assessing the extent of benefits of the music therapy. DISCUSSION: Findings indicate that music therapy can be a useful form of treatment with multiple benefits for children with conditions such as MPS III or similar conditions. However, further research is needed in this area and in the development of specific ways of evaluating music therapy.

Ketogenic diet and cognition in neurological diseases: a systematic review.

CONTEXT: In recent years, the ketogenic diet has gained special relevance as a possible therapeutic alternative to some neurological and chronic diseases. OBJECTIVE: The aim of this systematic review was to answer the following question: Does a ketogenic diet improve cognitive skills in patients with Alzheimer's disease, Parkinson's disease, refractory epilepsy, and type 1 glucose deficiency syndrome? To define the research question, the PICOS criteria were used, following the guidelines of the PRISMA method. DATA SOURCES: Medline/PubMed, Elsevier Science Direct, Dialnet, EBSCOhost, Mediagraphic, Sage Journals, ProQuest, and Wiley Online Library databases were used. DATA EXTRACTION: After applying inclusion and exclusion criteria in accordance with the PRISMA method, a total of 63 entries published between 2004 and 2019 were used. DATA ANALYSIS: The records extracted were analyzed from a qualitative approach, so no statistical analysis was carried out. CONCLUSION: Although scientific literature on the subject is scarce and there has tended to be a lack of scientific rigor, the studies reviewed confirmed the effectiveness of this diet in improving the cognitive symptomatology of the aforementioned diseases.

Evaluation of in vitro bioactivity and in vitro biocompatibility of Polycaprolactone/Hyaluronic acid/Multiwalled Carbon Nanotubes/Extract from Mimosa tenuiflora composites.

BACKGROUND: The development of biomaterial scaffolds and implementation of tissue engineering techniques are necessary. Therefore, Polycaprolactone/Sodium Hyaluronate/Multiwalled Carbon Nanotubes/Extract of Mimosa tenuiflora composites have been produced by a thermally-induced phase separation method. OBJECTIVE: The objective of this research was to evaluate the in vitro bioactivity and in vitro biocompatibility of the composites. METHODS: The in vitro bioactivity of the composites was assessed by soaking them in simulated body fluid for 7, 14, 21, and 28 days. The structure and composition of the composites were analyzed using scanning electron microscopy coupled with energy dispersive spectroscopy and Fourier transform infrared spectroscopy. Also, the in vitro biocompatibility of the composites was evaluated by means of alkaline phosphatase activity of the osteoblasts and by measuring the metabolic activity of the cells using MTT assay. RESULTS: The results show a porous and interconnected morphology with enhanced bioactivity. It was observed that the incorporation of Mimosa tenuiflora in the composites promotes increased viability of osteoblasts in the scaffolds. CONCLUSIONS: The results show the efficiency of bioactive and biocompatible composites and their potential as candidates for tissue engineering applications.

[Update in neurocysticercosis treatment]. / Actualizacion en el tratamiento de la neurocisticercosis.

INTRODUCTION: Neurocysticercosis is the most frequent central nervous system parasitosis, although quite infrequent in our country. Its rising incidence can be explained by immigration from regions of the world where this disease is endemic. OBJECTIVE: This paper reviews treatment options for this condition. PATIENTS AND METHODS. Eight patients have been diagnosed with neurocysticercosis in the last three years in our hospital. Patient age, sex, origin, symptoms, CT and MR images, diagnostic tests, treatment and duration of medical treatment and clinical and neuroradiological evolution are examined. RESULTS: Patient age ranged from 25 to 33 years, all eight came from South America and the most frequent initial symptom was an epileptic crisis. Two patients had a single lesion, six had multiple lesions and all eight showed the lesion in the parenchyma. Only 50% showed a positive serum ELISA test for Taenia solium. Initial treatment was surgical in only one patient and the other seven received albendazol. In one of the latter the drug was ineffective and surgery was undertaken. A ten month follow up period has found a favorable evolution in all the patients, who are all also asymptomatic at the present time. DISCUSSION AND CONCLUSIONS: Neurocysticercosis is more common among immigrants than the local population in Spain. The initial treatment should be medical, with surgery as an option for non responders. We believe that duration of the medical treatment will depend on the patient and the clinico radiological evolution of his/her disease.

Gene therapy in brain tumours: implications of the size of glioblastoma on its curability.

The authors have used the thymidine kinase/ganciclovir system to block glioblastoma multiforme neoplastic cells in vivo, both in experimental animals and in two patients in which the more conventional therapies had been unsuccessful. In the Wistar rat it was found that the curability potential of the system is correlated with tumoral volume. Tumours smaller than 20 mm3 can be cured with defective retrovirus that do not carry the Herpes simplex thymidine kinase (Hsvtk) gene. While tumours smaller than 150 mm3 can regress totally by the kinase/ganciclovir system, those above that size cannot be cured by this treatment. In humans the situation seems very similar in that the authors have been unable either to reduce the tumour size of recurrent patients with tumour volumes larger than 100 cm2 applying the standard thymidine kinase/ganciclovir gene therapy or to prolong their survival time more than 8 months [7]. When a combination of size reduction by neurosurgery and gene therapy was used the survival time increased considerably. Two patients have been treated by partial surgery and repeated treatment with thymidine kinase/ganciclovir through an Ommaya reservoir connected to a catheter leading into the tumour cavity. The magnetic resonance imaging (MRI) of these patients show only a residual tumoral growth along side the tumoral bed. The procedure may be partially controlling the proliferation of cancerous cells, because, these two patients having recurrent glioblastoma, are alive 11 and 17 months after the beginning of the treatment.

Human malignant brain tumor response to herpes simplex thymidine kinase (HSVtk)/ganciclovir gene therapy.

Growing cells from human brain tumors have been treated in vitro and in vivo with murine therapeutic retroviral producer cells. The therapeutic retrovirus carried the potential suicide gene thymidine kinase (tk) from the herpes simplex virus (HSV). After a few days, in which a large proportion of the tumoral cells had the opportunity to acquire a copy of the retrovirus, treatment with ganciclovir was initiated and considered responsible for considerable cell death both in vitro and in vivo. The in vivo experiments were performed in five adult patients who had failed standard therapy and were expected to survive only a few weeks.

Spinal epidural abscess caused by Brucella: case report.

We report a case of a patient with symptoms and signs of sciatica, due to spinal epidural abscess caused by Brucella, which was diagnosed by Magnetic Resonance Image. The literature is reviewed and the radiological features, particularly magnetic resonance image findings, are analyzed.