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Background: Recognition of pain in people with dementia is challenging. Observational scales have been developed, but there is a need to harmonize and improve the assessment process. In EU initiative COST-Action TD1005, 36 promising items were selected from existing scales to be tested further. We aimed to study the observer agreement of each item, and to analyse the factor structure of the complete set.Methods: One hundred and ninety older persons with dementia were recruited in four different countries (Italy, Serbia, Spain and The Netherlands) from different types of healthcare facilities. Patients represented a convenience sample, with no pre-selection on presence of (suspected) pain. The Pain Assessment in Impaired Cognition (PAIC, research version) item pool includes facial expressions of pain (15 items), body movements (10 items) and vocalizations (11 items). Participants were observed by health professionals in two situations, at rest and during movement. Intrarater and interrater reliability was analysed by percentage agreement. The factor structure was examined with principal component analysis with orthogonal rotation.Results: Health professionals performed observations in 40-57 patients in each country. Intrarater and interrater agreement was generally high (≥70%). However, for some facial expression items, agreement was sometimes below 70%. Factor analyses showed a six-component solution, which were named as follows: Vocal pain expression, Face anatomical descriptors, Protective body movements, Vocal defence, Tension and Lack of affect.Conclusions: Observation of PAIC items can be done reliably in healthcare settings. Observer agreement is quite promising already without extensive training.Significance: In this international project, promising items from existing observational pain scales were identified and evaluated regarding their reliability as an alternative to pain self-report in people with dementia. Analysis on factor structure helped to understand the character of the items. Health professionals from four countries using four different European languages were able to rate items reliably. The results contributed to an informed reduction of items for a clinical observer scale (Pain Assessment in Impaired Cognition scale with 15 items: PAIC15). [ABSTRACT FROM AUTHOR]

The extreme, unprecedented situations in the current COVID-19 pandemic are risk factors for psychosocial stress for the entire population. However, strict confinement had a particular impact on people suffering from misophonia and their families. Misophonia is a condition in which hearing certain sounds triggers intense anger, disgust and even severe autonomic nervous system responses. This prospective cohort study examined the impact of strict confinement (Spain, March 14–June 21, 2020) on a sample of 24 people (16 women and eight men) who had been diagnosed with moderate to extreme misophonia and were regularly attending a medical psychology center in Barcelona. The 3-month period of confinement caused general emotional maladjustment, distress, and a transitory crisis. Long-term biomonitoring of their heart variability rate (HRV) enabled to identify a significant increase in physiological arousal after the confinement period, which had already been recorded in a loss of cardiac coherence under basal rest/relaxation conditions. Certain auditory stimuli triggered adverse responses, lowered HRV scores, and an increased stress level and heart rate. Loss of cardiac coherence in their responses to these auditory stimuli (triggering mouth, nose and other sounds), as well as to non-triggering mouth, nose and other sounds was increased when compared to two assessments performed during the previous year. Despite the limited sample size, sex differences were observed in the incidence. Loss of cardiac coherence worsened with the severity of the misophonia. Most importantly, imagined or evoked triggering sounds, as well as real ones, were enough to cause the aversive responses, as displayed by the increased loss of cardiac coherence with respect to the at-rest basal level. A semi-structured interview revealed the exceptional nature of the situations, increased hyper-sensorial sensitivity, fear of being infected with or dying from COVID-19, the patients' coping strategies, and the difficulties and constraints they faced. Finally, the article gives recommendations for better management of misophonia. Improved knowledge of this disorder would help address the current lack of health and social care, hopefully preventing this shortfall's impact on social and affective relationships, which are particulary important for well-being now and in the coming periods of physical distancing measures. [ABSTRACT FROM AUTHOR]

The risk of suffering pain increases significantly throughout life, reaching the highest levels in its latest years. Prevalence of pain in nursing homes is estimated to range from 40 to 80% of residents, most of them old adults affected with dementia. It is already known that pain is under-diagnosed and under-treated in patients with severe cognitive impairment and poor/absent verbal communication, resulting in a serious impact on their quality of life, psychosocial, and physical functioning. Under-treated pain is commonly the cause of behavioral symptoms, which can lead to misuse of antipsychotic treatments. Here, we present two Regional and National Surveys in Spain (2015–2017) on the current practices, use of observational tools for pain assessment, guidelines, and policies. Results, discussed as compared to the survey across central/north Europe, confirm the professional concerns on pain in severe dementia, due to poor standardization and lack of guidelines/recommendations. In Spain, observational tools are scarcely used because of their difficulty and low reliability in severe dementia, since the poor/absent verbal communication and comprehension are considered limiting factors. Behavioral observation tools should be used while attending the patients, in a situation including rest and movement, should be short (3–5 min) and scored using a numeric scale. Among the pain items to score, "Facial expression" and "Verbalization" were considered essential and very useful, respectively. This was in contrast to "Body movements" and "Vocalizations," respectively, according to the survey in central/north Europe. Scarce time availability for pain assessment and monitoring, together with low feasible and time-consuming tools, can make pain assessment a challenge. The presence of confounding factors, the low awareness and poor knowledge/education of specific tools for this population are worrisome. These complaints draw future directions to improve pain assessment. More time available, awareness, and involvement of the teams would also benefit pain assessment and management in cognitive impairment. The experiences and opinions recorded in these surveys in Spain and other E.U. countries were considered sources of knowledge for designing the "PAIC-15 scale," a new internationally agreed-on meta-tool for Pain Assessment in Impaired Cognition and the "Observational pain assessment" in older persons with dementia. [ABSTRACT FROM AUTHOR]

Managing the heterogeneity of Parkinson's disease symptoms and its progressive nature demands strategies targeting the hallmark disrupted neurotransmission but also the comorbid derangements and bolstering neuroprotection and regeneration. Strong efforts are done to find disease-modifying strategies, since slowing disease progression is not enough to hamper its burden and some motor symptoms are resistant to dopamine-replacement therapy. The inclusion of non-pharmacological strategies can provide such a multitarget umbrella approach. The silent long-term biological process that precedes the clinical onset of disease is a challenge but also an opportunity to reinforce healthy lifestyle known to exert preventive/therapeutic effects. These non-pharmacological strategies are foreseen as able to reduce the prevalence and the global impact of long-term diseases demanding strong management of patient-caregiver quality of life. In this regard, European guidelines for Parkinson's disease recommend physical-related activities such as aerobic exercise and dancing known to improve functional mobility and balance in patients. Here, we propose "PasoDoble," a novel dance/music patient-caregiver intervention with additional preventive value. The rationale is founded on evidence-based therapeutic benefits of dance/music therapy and the singular features of this widely extended Hispanic dance/music targeting motor symptoms, mood/cognition, and socialization: (i) As a dance, an easy and simple double-step pattern (back-and-forward and lateral movements) that evolves from a spontaneous individual dance to a partnered dancing, performed in social groups and involving dancing-figures of increasing complexity; (ii) "PasoDoble," as a music that can be sung, has musical rhythmicity with high groove and familiarity that will help to synchronize the steps to the rhythm of music; (iii) Widely extended (Spain, Mexico, Puerto Rico, Colombia, and USA) and easy-to-learn for others. As a regular dancing "PasoDoble" can improve and preserve function, mood and socialization, as an intervention the method is structured to improve gait and balance; facilitate movement, reaching and grasping; muscle power and joint mobility; reduce of risk of falls, and increase of aerobic capacity. Finally, this easy-to-implement into patient care and free-living environments (elderly social centers, home care) rehabilitation programs can promote positive emotions and self-esteem, with added general improvement of social attachment and recognition, thus improving the quality of life of patient-caregiver. [ABSTRACT FROM AUTHOR]

The 3xTg-AD mouse develops a progressive Alzheimer's disease- (AD-) like brain pathology that causes cognitive- and neuropsychiatric-like symptoms of dementia. Since its neuroimmunoendocrine axis is likewise impaired, this mouse is also useful for modelling complex age-related neurodegeneration. This study analyzed behavioral, physiological, neurochemical, pathological and immunoendocrine alterations in male and female 3xTg-AD mice and assayed the effects of a short therapy of forced physical exercise at the moderate pathology stage of 6 months of age. Gender effects were observed in most AD-related pathology and dysfunctions. Five weeks of treadmill training produced beneficial effects, such as the reduction of brain oxidative stress and GABA-A receptor dysfunction in males and improvement of sensorimotor function in females. In both sexes, exercise decreased the brain amyloid β 42/40 ratio levels. The results highlight the importance of analyzing experimental therapies in both mouse model genders in order to improve our understanding of the disease and develop more appropriate therapies. [ABSTRACT FROM AUTHOR]

Women with a family history of breast cancer (FHBC) are at increased risk for developing this disease. In this study, we have investigated the differences between two groups of women; those with family history of breast cancer (N =42) and women at population risk (N =42) in a Spanish cohort. Questionnaires assessed distress, perception of breast cancer risk, screening behaviours, coping skills, personality and quality of life. Neither group received genetic counselling before or after this study. Women with FHBC overestimated their risk of developing breast cancer. They report a subjective risk of developing breast cancer of 50%, with their actual risk, using the risk tables elaborated by Claus et al . (Cancer 1994, 73 : 643), being only 15% (p <0.05). Discriminant function analysis revealed the patients' information about breast cancer, worries about breast cancer, perception of risk based on family history, perception of lifetime risk of breast cancer and quality of life were the five variables that distinguished between both groups. Only 34% of women in the FHBC group performed monthly breast self-examination, 24% (10 subjects) had never attended previously for clinical breast examination and 45% (19 subjects) had never undergone a mammogram. This group of women had a significantly lower level of general satisfaction (p <0.05), an indicator of Quality of Life. The results support the need for developing psychological intervention for women with family history of breast cancer in order to increase adherence to surveillance behaviours, reduce distress, improve quality of life, and assure the earliest detection of breast cancer. Copyright © 2003 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Facial expression is a key aspect in observational scales developed to improve pain assessment in individuals with cognitive impairments. Although these scales are used internationally in individuals with different types of cognitive impairments, it is not known whether observing facial expressions of pain might differ between regions or between different types of cognitive impairments. In a pilot study, facial responses to standardized experimental pressure pain were assessed among individuals with different types of cognitive impairments (dementia, mild cognitive impairment, Huntington's disease, and intellectual disability) from different countries (Denmark, Germany, Italy, Israel, and Spain) and were analyzed using facial descriptors from the PAIC scale (Pain Assessment in Impaired Cognition). We found high inter-rater reliability between observers from different countries. Moreover, facial responses to pain did not differ between individuals with dementia from different countries (Denmark, Germany, and Spain). However, the type of cognitive impairment had a significant impact; with individuals with intellectual disability (all being from Israel) showing the strongest facial responses. Our pilot data suggest that the country of origin does not strongly affect how pain is facially expressed or how facial responses are being scored. However, the type of cognitive impairment showed a clear effect in our pilot study, with elevated facial responses in individuals with intellectual disability. [ABSTRACT FROM AUTHOR]

Simple Summary: Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancer (RCC), with no data on its prevalence worldwide. No genotype-phenotype associations have been described. The aim of our study was to describe the genotypic and phenotypic features of the largest series of patients with HLRCC from Spain reported to date. Of 27 FH germline pathogenic variants, 12 were not previously reported in databases. Patients with missense pathogenic variants showed higher frequencies of CLMs, ULMs and RCys, than those with loss-of-function variants. The frequency of RCCs (10.9%) was lower than those reported in the previously published series. Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancers (RCCs). We aimed to describe the genetics, clinical features and potential genotype-phenotype associations in the largest cohort of fumarate hydratase enzyme mutation carriers known from Spain using a multicentre, retrospective study of individuals with a genetic or clinical diagnosis of HLRCC. We collected clinical information from medical records, analysed genetic variants and looked for genotype-phenotype associations. Analyses were performed using R 3.6.0. software. We included 197 individuals: 74 index cases and 123 relatives. CLMs were diagnosed in 65% of patients, ULMs in 90% of women, RCys in 37% and RCC in 10.9%. Twenty-seven different pathogenic variants were detected, 12 (44%) of them not reported previously. Patients with missense pathogenic variants showed higher frequencies of CLMs, ULMs and RCys, than those with loss-of-function variants (p = 0.0380, p = 0.0015 and p = 0.024, respectively). This is the first report of patients with HLRCC from Spain. The frequency of RCCs was lower than those reported in the previously published series. Individuals with missense pathogenic variants had higher frequencies of CLMs, ULMs and RCys. [ABSTRACT FROM AUTHOR]

Purpose: We aim to describe the characteristics of patients with childhood-onset craniopharyngioma and to analyze factors that impair quality of life (QoL) in this population., Methods: Multicenter national study including patients treated between 2008 and 2022, from 2 to 25 years of age diagnosed with craniopharyngioma. QoL was assessed once during patient's follow-up by age-adapted versions of Pediatric Quality of Life Inventory (PedsQL) questionnaire., Results: Sixty-six patients were included. Median age at diagnosis was 5 years (interquartile range [IQR]: 3-8), while median follow-up was 7.4 years (IQR: 2.8-9.7). Most craniopharyngioma were suprasellar (93.9%), and 59.7% had hypothalamic involvement (HI). All patients underwent surgery, 44.4% received radiotherapy, and 23.6% intracystic therapy. Most frequent long-term complications were visual deficit (72.7%) and endocrine impairment (94.5%). Patients exhibited hypothyroidism requiring hormone replacement (92.4%), hypocortisolism (80.3%), diabetes insipidus (86.4%), and/or growth hormone therapy (50%). When parents evaluated QoL, PedsQL median score was 53.8 points out of 100 (IQR: 41-71.6). Higher scores were noted when patients assessed their own QoL (median score 64.8 [IQR: 57.3-81.8]), observing statistically significant differences (p = .019). QoL was impaired by repeated surgeries (r = -.44; p = .014), HI (median score 51.5 [IQR: 39-63.8] vs. 76.4 [59-84.8]; p = .001), radiotherapy (median score 51.9 [IQR: 38.1-61.3] vs. 63.8 [IQR: 49-82.5]; p = .02) and longer follow-up (r = -.3; p = .01)., Conclusion: In our study, most patients had significant comorbidities and low overall QoL scores, which was mainly affected by repeated surgery, radiation, and hypothalamic involvement. This reflects the need for further research and intensified studies of systemic therapy/alternate strategies to broaden the standard-of-care options, so that treatment-related sequalae can be avoided., (© 2024 Wiley Periodicals LLC.)

Non-medulloblastoma CNS embryonal tumors (former PNET/Pineoblastomas) are aggressive malignancies with poor outcome that have been historically treated with medulloblastoma protocols. The purpose of this study is to present a tumor-specific, real-world data cohort of patients with CNS-PNET/PB to analyze quality indicators that can be implemented to improve the outcome of these patients. Patients 0-21 years with CNS-PNET treated in eight large institutions were included. Baseline characteristics, treatment and outcome [progression-free and overall survival (PFS and OS respectively)] were analyzed. From 2005 to 2014, 43 patients fulfilled entry criteria. Median age at diagnosis was 3.6 years (range 0.0-14.7). Histology was pineoblastoma (9%), ependymoblastoma (5%), ETANTR (7%) and PNET (77%). Median duration of the main symptom was 2 weeks (range 0-12). At diagnosis, 28% presented with metastatic disease. Seventeen different protocols were used on frontline treatment; 44% had gross total resection, 42% craniospinal radiotherapy, 86% chemotherapy, and 33% autologous hematopoietic stem cell transplantation (aHSCT). Median follow-up for survivors was 3.5 years (range 1.7-9.3). 3-year PFS was 31.9% (95% CI 17-47%) and OS 35.1% (95% CI 20-50%). Age, extent of resection and radiotherapy were prognostic of PFS and OS in univariate analysis (p < 0.05). Our series shows a dismal outcome for CNS-PNET, especially when compared to patients included in clinical trials. Establishing a common national strategy, implementing referral circuits and collaboration networks, and incorporating new molecular knowledge into routine clinical practice are accessible measures that can improve the outcome of these patients.

Introduction: Cancer is the leading cause of death between the first year of life and adolescence, and some types of diseases are still a major challenge in terms of cure. There is, therefore, a major need for new drugs. Recent findings in cancer biology open the door to the development of targeted therapies against individual molecular changes, as well as immunotherapy. Promising results in adult anti-cancer drug development have not yet been translated into paediatric clinical practice. A report is presented on the activity in early paediatric oncology trials (phase I-II) in Spain., Material and Methods: All members of the Spanish Society of Paediatric Haematology Oncology (SEHOP) were contacted in order to identify early clinical trials in paediatric cancer opened between 2005 and 2015., Results: A total of 30 trials had been opened in this period: 21 (70%) in solid tumours, and 9 (30%) in malignant haemopathies. A total of 212 patients have been enrolled. The majority was industry sponsored (53%). Since 2010, four centres have joined the international consortium of Innovative Therapies for Children with Cancer (ITCC), which has as its aim to develop novel therapies for paediatric tumours. A significant number of new studies have opened since 2010, improving the treatment opportunities for our children. Results of recently closed trials show the contribution of Spanish investigators, the introduction of molecularly targeted agents, and their benefits., Conclusions: The activity in clinical trials has increased in the years analysed. The SEHOP is committed to develop and participate in collaborative academic trials, in order to help in the advancement and optimisation of existing therapies in paediatric cancer., (Copyright © 2016 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.)

PTLD are the most frequent neoplasms in children postorgan transplantation. We describe our experience in the treatment of 14 children (three with early and 11 with late-onset disease) treated with a step-wise protocol developed at our institution. Treatment consisted of reducing immunosuppressants, followed by rituximab and chemotherapy if required. Rituximab, incorporated into the protocol in 2001, has been determinant for the total chemotherapy burden patients need to achieve remission. In seven patients who did not receive rituximab, anthracycline total dose ranged from 160 to 240 mg/m(2), while only one of the patients receiving rituximab required DOXO (range: 0-120 mg/m(2)) (p = 0.003). The use of alkylating agents was also notably lower in patients receiving rituximab (median dose = 1200 mg/m(2)) compared with those who did not receive rituximab (median dose = 5800 mg/m(2)) (p = 0.006). Twelve patients are in remission and two died, one from refractory disease and the other from septic shock. Two-year OS and EFS were 85.7% and 57%, respectively. In conclusion, our experience with the use of rituximab in children with PTLD after solid organ transplantation appeared to be associated with a lesser requirement for alkylating agents and anthracyclines compared with historical subjects, suggesting a reduction in the side effects of these agents., ((c) 2009 John Wiley & Sons A/S.)