Continuous Positive Airway Pressure Treatment in Patients with Alzheimer's Disease: A Systematic Review

Background: Epidemiological studies have suggested a pathophysiological relationship between obstructive sleep apnea syndrome (OSAS) and Alzheimer's disease (AD). The aim of this study is to evaluate the treatment of obstructive sleep apnea with continuous positive airway pressure (CPAP) in AD and its relationship with neurocognitive function improvement. Methods: Systematic review conducted following PRISMA's statements. Relevant studies were searched in MEDLINE, PEDro, SCOPUS, PsycINFO, Web of Science, CINAHL and SportDicus. Original studies in which CPAP treatment was developel in AD patients have been included. Results: 5 studies, 3 RCTs (Randomized controlled trials) and 2 pilot studies. In all RCTs the CPAP intervention was six weeks; 3 weeks of therapeutic CPAP vs. 3 weeks placebo CPAP (pCPAP) followed by 3 weeks tCPAP in patients with AD and OSA. The two pilot studies conducted a follow-up in which the impact on cognitive impairment was measured. Conclusions: CPAP treatment in AD patients decreases excessive daytime sleepiness and improves sleep quality. There are indications that cognitive deterioration function measured with the Mini Mental Scale decreases or evolves to a lesser extent in Alzheimer's patients treated with CPAP. Caregivers observe stabilization in disease progression with integration of CPAP. More research is needed on the topic presented

Preliminary Study on the Effect of an Early Physical Therapy Intervention after Sentinel Lymph Node Biopsy: A Multicenter Non-Randomized Controlled Trial

Selective sentinel lymph node biopsy (SLNB) represents a minimally invasive surgery in patients with breast cancer. The purpose of this study was to explore the possible effect of an early physiotherapy intervention for the recovery of the upper limb and the surgical scars after SLNB in comparison with usual care. A total of 40 patients were enrolled in either the control group (n = 20) or the experimental group (n = 20). The intervention group performed an early physiotherapy program based on functional exercises, scar manual therapy, and educational tips. The control group received usual care. Shoulder range of motion (ROM), grip strength, upper limb pain and disability (SPADI), scar recovery (POSAS), myofascial adhesions (MAP-BC), quality of life (EORTCQLA-BR-23) and the presence of axillary web syndrome (AWS) and lymphoedema were assessed at baseline and immediately after intervention. A follow-up period of 6 months was performed for lymphoedema surveillance. Between groups significant differences in favor of the intervention were found for ROM (r = 0.43), grip strength (r = 0.32), SPADI (d = 0.45), POSAS (d = 1.28), MAP-BC (d = 1.82) and EORTCQLQ-BR 23 general function subscale (d = 0.37) (p < 0.05 for all variables). Our results suggest that an early physical therapy program seems to be more effective than usual care in women after SLNB. However, results should be interpreted with caution and future randomized trial with a larger sample size is neededThis research was partially supported by ICPFA. Grant number 04722/19P/MA. The funder had no role in the design of the study and collection, analysis, and interpretation of data, and in writing the manuscript. Partial funding for open access charge: Universidad de Málag

Respiratory Physiotherapy Intervention Strategies in the Sequelae of Breast Cancer Treatment: A Systematic Review

Breast cancer treatments can trigger respiratory sequelae. Respiratory physiotherapy helps to eliminate or mitigate the sequelae by optimizing respiratory function. This systematic review aims to synthesize the scientific evidence and assess its quality regarding the use of respiratory physiotherapy in the sequelae of breast cancer. The Cochrane Library, Physiotherapy Evidence Database, PubMed, Web of Science, Scientific Electronic Library Online, Cumulative Index of Nursing and Allied Literature Complete, and Scopus were searched. Study quality was determined using the PEDro scale, STROBE Statement, and Single-Case Experimental Design Scale. Ten studies, six clinical trials, one case study, and three observational studies were selected. The mean methodological quality of the clinical trials was 5.6, that of the case study was 7, and that of the observational studies was 56%. Respiratory physiotherapy has been observed to improve respiratory capacity, lung function, respiratory muscle strength, effort tolerance, dyspnea, fatigue, thoracic mobility, upper limb volume, sleep quality and quality of life, as well as sensitivity to adverse physiological reactions, nausea, vomiting, and anxiety. However, it is not effective for vasomotor symptoms. More clinical trials are needed. These studies should homogenize the techniques used, as well as improve their methodological qualityThis research was funded by the Department of Nursing and Physiotherapy (University of Cadiz). Partial funding for open access charge: Universidad de Málaga

Pharmaceutical intervention in the usage of inhalers with COPD patients that have an appointment in a health center to do an spirometry

Background: the usage of inhalers is something complex. This work with COPD patients pretends that, after the pharmacist intervention, the correct usage of these drugs is guaranteed so as to improve the quality of life.  Methods: the nurse set a date to do an spirometry to the patients. On the other hand, the pharmacist assessed the usage of the inhalers and carried out the adherence and quality of life tests. Three months after, the patients came back to the consultation and the pharmacist repeated the same procedure to detect any possible change after the intervention. Results: on those patients that attended both appointments, it was seen that there were statistically significant changes between the adherence punctuation regarding both appointments. The average of punctuation is higher in the second appointment (49.09) in respect to the first one (46.45), this is a significant difference with a p<0.05. The quality of life was the same in both appointments and the errors average in the usage of inhalators in the second appointment decreased (1773) significantly in respect to the errors average in the first appointment (4727). Conclusion: the intervention of a pharmacist in a multidisciplinary team to the following of COPD patients is advantageous to these patients, mainly in relation to the usage of inhalers and the adherence to treatment

Pharmaceutical intervention in the usage of inhalers with COPD patients that have an appointment in a health center to do an spirometry

Background: the usage of inhalers is something complex. This work with COPD patients pretends that, after the pharmacist intervention, the correct usage of these drugs is guaranteed so as to improve the quality of life.  Methods: the nurse set a date to do an spirometry to the patients. On the other hand, the pharmacist assessed the usage of the inhalers and carried out the adherence and quality of life tests. Three months after, the patients came back to the consultation and the pharmacist repeated the same procedure to detect any possible change after the intervention. Results: on those patients that attended both appointments, it was seen that there were statistically significant changes between the adherence punctuation regarding both appointments. The average of punctuation is higher in the second appointment (49.09) in respect to the first one (46.45), this is a significant difference with a p<0.05. The quality of life was the same in both appointments and the errors average in the usage of inhalators in the second appointment decreased (1773) significantly in respect to the errors average in the first appointment (4727). Conclusion: the intervention of a pharmacist in a multidisciplinary team to the following of COPD patients is advantageous to these patients, mainly in relation to the usage of inhalers and the adherence to treatment

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425 and PI19/00321), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), European Regional Development Fund (FEDER), the Organización Nacional de Ciegos Españoles (ONCE), Fundación Ramón Areces, Fundación Conchita Rábago and the University Chair UAM-IIS-FJD of Genomic Medicine. Irene Perea-Romero is supported by a PhD fellowship from the predoctoral Program from ISCIII (FI17/00192). Ionut F. Iancu is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017-AI/BMD7256). Marta del Pozo-Valero is supported by a PhD grant from the Fundación Conchita Rábago. Berta Almoguera is supported by a Juan Rodes program from ISCIII (JR17/00020). Pablo Minguez is supported by a Miguel Servet program from ISCIII (CP16/00116). Marta Corton is supported by a Miguel Servet program from ISCIII (CPII17/00006). The funders played no role in study design, data collection, data analysis, manuscript preparation and/or publication decisions

Cabbage and fermented vegetables : From death rate heterogeneity in countries to candidates for mitigation strategies of severe COVID-19

Large differences in COVID-19 death rates exist between countries and between regions of the same country. Some very low death rate countries such as Eastern Asia, Central Europe, or the Balkans have a common feature of eating large quantities of fermented foods. Although biases exist when examining ecological studies, fermented vegetables or cabbage have been associated with low death rates in European countries. SARS-CoV-2 binds to its receptor, the angiotensin-converting enzyme 2 (ACE2). As a result of SARS-CoV-2 binding, ACE2 downregulation enhances the angiotensin II receptor type 1 (AT(1)R) axis associated with oxidative stress. This leads to insulin resistance as well as lung and endothelial damage, two severe outcomes of COVID-19. The nuclear factor (erythroid-derived 2)-like 2 (Nrf2) is the most potent antioxidant in humans and can block in particular the AT(1)R axis. Cabbage contains precursors of sulforaphane, the most active natural activator of Nrf2. Fermented vegetables contain many lactobacilli, which are also potent Nrf2 activators. Three examples are: kimchi in Korea, westernized foods, and the slum paradox. It is proposed that fermented cabbage is a proof-of-concept of dietary manipulations that may enhance Nrf2-associated antioxidant effects, helpful in mitigating COVID-19 severity.Peer reviewe

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods: For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings: Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8-13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05-6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50-75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation: Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life

Nrf2-interacting nutrients and COVID-19 : time for research to develop adaptation strategies

There are large between- and within-country variations in COVID-19 death rates. Some very low death rate settings such as Eastern Asia, Central Europe, the Balkans and Africa have a common feature of eating large quantities of fermented foods whose intake is associated with the activation of the Nrf2 (Nuclear factor (erythroid-derived 2)-like 2) anti-oxidant transcription factor. There are many Nrf2-interacting nutrients (berberine, curcumin, epigallocatechin gallate, genistein, quercetin, resveratrol, sulforaphane) that all act similarly to reduce insulin resistance, endothelial damage, lung injury and cytokine storm. They also act on the same mechanisms (mTOR: Mammalian target of rapamycin, PPAR gamma:Peroxisome proliferator-activated receptor, NF kappa B: Nuclear factor kappa B, ERK: Extracellular signal-regulated kinases and eIF2 alpha:Elongation initiation factor 2 alpha). They may as a result be important in mitigating the severity of COVID-19, acting through the endoplasmic reticulum stress or ACE-Angiotensin-II-AT(1)R axis (AT(1)R) pathway. Many Nrf2-interacting nutrients are also interacting with TRPA1 and/or TRPV1. Interestingly, geographical areas with very low COVID-19 mortality are those with the lowest prevalence of obesity (Sub-Saharan Africa and Asia). It is tempting to propose that Nrf2-interacting foods and nutrients can re-balance insulin resistance and have a significant effect on COVID-19 severity. It is therefore possible that the intake of these foods may restore an optimal natural balance for the Nrf2 pathway and may be of interest in the mitigation of COVID-19 severity