Challenges A ecting Access to Health and Social Care Resources and Time Management among Parents of Children with Rett Syndrome: A Qualitative Case Study.

Rare diseases face serious sustainability challenges regarding the distribution of resources geared at health and social needs. Our aim was to describe the barriers experienced by parents of children with Rett Syndrome for accessing care resources. A qualitative case study was conducted among 31 parents of children with Rett syndrome. Data were collected through in-depth interviews, focus groups, researchers’ field notes and parents’ personal documents. A thematic analysis was performed and the Standards for Reporting Qualitative Research (SRQR) guidelines were followed. Three main themes emerged from the data: (a) essential health resources; (b) bureaucracy and social care; and (c) time management constraints. Parents have difficulties accessing appropriate health services for their children. Administrative obstacles exist for accessing public health services, forcing parents to bear the financial cost of specialized care. Time is an essential factor, which conditions the organization of activities for the entire family. Qualitative research offers insight into how parents of children with Rett syndrome experience access to resources and may help improve understanding of how Rett syndrome impacts the lives of both the children and their parentspost-print353 K

"Living an Obstacle Course": A Qualitative Study Examining the Experiences of Caregivers of Children with Rett Syndrome

Background: Rett syndrome has considerable effects on the quality of life of affected children, impairing everyday activities and potentially impacting the life of both the caregivers and the family. Our aim was to explore the experiences of a group of caregivers of children with Rett syndrome with regards to living and caring for their children. Methods: We conducted a qualitative case study to examine how 31 caregivers of children with Rett syndrome perceived living with their children. Data were collected through in-depth interviews, focus groups, researchers? field notes and caregivers? personal documents. A thematic analysis was performed following the Consolidated Criteria for Reporting Qualitative Research (COREQ) guideline. Results: The experience of being a caregiver of a child with Rett syndrome was expressed as being akin to an ?obstacle course?, and was described via three main themes: (a) looking for answers, with two subthemes identified, namely ?the first symptoms?, and ?the need for a diagnosis?; (b) managing day to day life, with the subthemes ?applying treatments?, and ?learning to care?; and (c) money matters. Conclusions: Rett syndrome has a considerable impact on the lives of the caregivers involved. The health-care process and the management of economic resources are some of the aspects highlighted by caregivers. These findings have important implications for the planning of support services, health systems and health policies

Exploring the genetic background of the botulism neurotoxin BoNT/B2 in Spain

To determine whether the neurotoxin BoNT/B2 causing botulism in Spain is clonal, the genetic diversity and phylogenetic relationships of Clostridium botulinum from food-borne episodes and infant cases of the condition were explored. The botulinum toxin gene (bont) subtype, the variable region of the flagellin gene (flaVR), and a seven-gene multi-locus sequence type were examined by sequencing 37 BoNT-positive cultures obtained over the period 2010 to 2022. Out of 37 botulism events, 16 food-borne episodes and 16 infant cases were associated with bont/b2. Eight bont/b2 alleles were detected [nucleotide distance range 0.0259-0.415%, Hunter and Gaston discrimination index (HGDI) 0.71]. The most common bont/b2 allele corresponded to that of strain Prevot 25 NCASE and its single and double locus variations (87.5%). Four known flaVR types were identified (HGDI 0.79), along with one previously unknown (flaVR-15). Sixteen sequence types (STs) (HGDI 0.89) were recorded including seven new STs (ST164-ST170; 10 new alleles) and five new STs (ST171-ST175; with new allele combinations) were also noted. Correlations among some STs and flaVR types were seen. Overall, the present results show that the combined analysis of bont/b2-flaVR-ST at the nucleotide level could be used to track botulism events in Spain. The neurotoxin BoNT/B2 has largely been responsible for human botulism in Spain. The polymorphism analysis of bont/b2, flaVR typing, and sequence type determinations, revealed a wide variety of clones to be responsible for human botulism, ruling out a common source of acquisition. IMPORTANCE Botulism, a potentially fatal disease, is classically characterized by a symmetrical descending flaccid paralysis, which if left untreated can lead to respiratory failure and death. Botulinum neurotoxin (BoNT), produced by certain species of Clostridium, is the most potent biological toxin known, and the direct cause of botulism. This study characterizes the acquisition in Spain of two forms of botulism, i.e., food-borne and infant botulism, which are largely caused by the main neurotoxin BoNT/B2. Polymorphism analysis of the bont/b2 gene, typing of the flagellin variable region sequence (flaVR), and multilocus sequence typing, were used to explore the genetic background of Clostridium botulinum group I. To our knowledge, this is the first phylogenetic and typing study of botulism undertaken in Spain.This study was partially funded via Ministerio de Ciencia e Innovación (MCIN) and the Agencia Estatal de Investigación (AEI) grant PID2021127477OBI00 through the Plan Estatal de Investigación Científica, Técnica y de Innovación. N.G. is contracted via MCIN/AEI grant PTA-2019-016623-I. M.V. is contracted via grant PEJ CAM 2021-/TL/BMD-21100 from the Programa Operativo Empleo Juvenil e Iniciativa Empleo Juvenil (YEI).S

Resistance gene pool to co-trimoxazole in non-susceptible Nocardia strains

The soil-borne pathogen Nocardia sp. causes severe cutaneous, pulmonary, and central nervous system infections. Against them, co-trimoxazole (SXT) constitutes the mainstay of antimicrobial therapy. However, some Nocardia strains show resistance to SXT, but the underlying genetic basis is unknown. We investigated the presence of genetic resistance determinants and class 1-3 integrons in 76 SXT-resistant Nocardia strains by PCR and sequencing. By E test, these clinical strains showed SXT minimum inhibitory concentrations of ≥32:608 mg/L (ratio of 1:19 for trimethoprim: sulfamethoxazole). They belonged to 12 species, being the main representatives Nocardia farcinica (32%), followed by N. flavorosea (6.5%), N. nova (11.8%), N. carnea (10.5%), N. transvalensis (10.5%), and Nocardia sp. (6.5%). The prevalence of resistance genes in the SXT-resistant strains was as follows: sul1 and sul2 93.4 and 78.9%, respectively, dfrA(S1) 14.7%, blaTEM-1 and blaZ 2.6 and 2.6%, respectively, VIM-2 1.3%, aph(3')-IIIa 40.8%, ermA, ermB, mefA, and msrD 2.6, 77.6, 14.4, and 5.2%, respectively, and tet(O), tet(M), and tet(L) 48.6, 25.0, and 3.9%, respectively. Detected amino acid changes in GyrA were not related to fluoroquinolone resistance, but probably linked to species polymorphism. Class 1 and 3 integrons were found in 93.42 and 56.57% strains, respectively. Class 2 integrons and sul3 genes were not detected. Other mechanisms, different than dfrA(S1), dfrD, dfrF, dfrG, and dfrK, could explain the strong trimethoprim resistance shown by the other 64 strains. For first time, resistance determinants commonly found in clinically important bacteria were detected in Nocardia sp. sul1, sul2, erm(B), and tet(O) were the most prevalent in the SXT-resistant strains. The similarity in their resistome could be due to a common genetic platform, in which these determinants are co-transferred.This study was presented at the 54th Interscience Conference on Antimicrobial Agents and Chemotherapy, ICAAC2014, Washington, DC, USA. We thank Adrian Burton for editing and language assistance (http://physicalevidence.es/english/welcome). We are very grateful to all persons who took part in this study, and to the sample providers.S

Identification and antimicrobial susceptibility of Streptomyces and other unusual Actinobacteria clinical isolates in Spain

Two hundred and eighty-six isolates from human clinical samples were identified between 1996 and 2019 as belonging to 8 families, 19 genera and 88 species of Actinobacteria. The most identified genera were Streptomyces (182 strains from 45 species), Actinomadura (29 strains, 5 species), Nocardiopsis (21 strains, 6 species) and Dietzia (18 strains, 5 species). The rest of the identified genera (15) contained 27 species with 36 isolates. Of the species studied, only 13/88 had been documented previously as isolates from clinical samples, and in some cases, as true pathogens. In this sense, a literature review of the species found in infections or in clinical samples without clear involvement in pathology has been carried out. Finally, the susceptibility to 8 antimicrobial agents has been studied. Streptomyces showed high resistance (80.8%) against cefotaxime and cotrimoxazole (55.5%), and no isolate resistance to amikacin and linezolid have been found. Lower percentages of resistance have been found in other genera, except in Dietzia (100% against cotrimoxazole and 44.4% against erythromycin). The greatest resistance in these genera was to cotrimoxazole (29.8) and erythromycin (27,9%), and no resistance to linezolid has been found in these genera. In Microbispora, Nonomuraea and Umezawaea, no resistant isolates have been found against any antibiotic studied. Only 3/104 isolates were resistant to amikacin in Amycolatopsis, Crossiella, and Micromonosopora. One isolate of Amycolatopsis was resistant to imipenem.S

Prevalence of chronic head, neck and low back pain and associated factors in women residing in the Autonomous Region of Madrid (Spain)

AbstractObjectiveTo compare the prevalence of chronic headache (CH), chronic neck pain (CNP) and chronic low back pain (CLBP) in the autonomous region of Madrid by analyzing gender differences and to determine the factors associated with each pain location in women in 2007.MethodsWe analyzed data obtained from adults aged 16 years or older (n = 12,190) who participated in the 2007 Madrid Regional Health Survey. This survey includes data from personal interviews conducted in a representative population residing in family dwellings in Madrid. The presence CH, CNP, and CLBP was analyzed. Sociodemographic features, self-perceived health status, lifestyle habits, psychological distress, drug consumption, use of healthcare services, the search for alternative solutions, and comorbid diseases were analyzed by using logistic regression models.ResultsThe prevalence of CH, CNP and CLBP was significantly higher (P<0.001) in women (7.3%, 8.4%, 14.1%, respectively) than in men (2.2%, 3.2%, 7.8%, respectively). In women, CH, CNP and CBLP were significantly associated with having ≥3 chronic diseases (OR 7.1, 8.5, 5.8, respectively), and with the use of analgesics and drugs for inflammation (OR: 3.5, 1.95, 2.5, respectively). In the bivariate analysis, the factors associated with pain in distinct body locations differed between men and women.ConclusionsThis study found that CH, CNP and CLBP are a major public health problem in women in central Spain. Women have a higher overall prevalence of chronic pain than men. Chronic pain was associated with a higher use of analgesics and healthcare services

Pain management and coping strategies for primary dysmenorrhea: A qualitative study among female nursing students.

Aim Primary dysmenorrhea is a problem that affects both young and adult women, with a significant impact on their daily lives. This pain is primarily managed through the consumption of non-steroidal anti-inflammatories and non-pharmacological approaches such as exercise, acupressure and heat. The present study aimed to describe how Spanish university students manage dysmenorrhea. Design Qualitative case study. Methods Nursing students (N = 33) from the region of Andalusia (Spain) participated in focus groups. A purposive sampling method was used, and the data were collected through videoconferencing and subsequently analysed thematically. The guidelines for conducting qualitative studies established by the consolidated criteria for reporting qualitative research (COREQ) and the standards for reporting qualitative research (SRQR) were followed. Results Four principal themes were identified: (a) Strategies for pain management; (b) using painkillers; (c) choosing the ideal treatment; (d) non-pharmacological interventions. Conclusions The nursing students experienced difficulties in managing primary dysmenorrhea, they self-medicated, expressed reluctance to seek professional medical advice, used non-pharmacological strategies and seeked advice from other women within their family/social circle.post-print434 K

Negative impact of chronic obstructive pulmonary disease on the health-related quality of life of patients. Results of the EPIDEPOC study

BACKGROUND: COPD is currently the fourth cause of morbidity and mortality in the developed world. Patients with COPD experience a progressive deterioration and disability, which lead to a worsening in their health-related quality of life (HRQoL). The aim of this work is to assess the Health-Related Quality of Life (HRQoL) of patients with stable COPD followed in primary care and to identify possible predictors of disease. METHODS: It is a multicenter, epidemiological, observational, descriptive study. Subjects of both sexes, older than 40 years and diagnosed of COPD at least 12 months before starting the study were included. Sociodemographic data, severity of disease, comorbidity, and use of health resources in the previous 12 months were collected. All patients were administered a generic quality-of-life questionnaire, the SF-12, that enables to calculate two scores, the physical (PCS-12) and the mental (MCS-12) component summary scores. RESULTS: 10,711 patients were evaluated (75.6% men, 24.4% women), with a mean age of 67.1 years (SD 9.66). The mean value of FEV(1 )was 35.9 ± 10.0%. Mean PCS-12 and MCS-12 scores were 36.0 ± 9.9 and 48.3 ± 10.9, respectively. Compared to the reference population, patients with COPD had a reduction of PCS-12, even in mild stages of the disease. The correlation with FEV(1 )was higher for PCS-12 (r = 0.38) than for MCS-12 (r = 0.12). Predictors for both HRQoL components were sex, FEV(1), use of oxygen therapy, and number of visits to emergency rooms and hospital admissions. Other independent predictors of PCS-12 were age, body mass index and educational level. CONCLUSION: Patients with stable COPD show a reduction of their HRQoL, even in mild stages of the disease. The factors determining the HRQoL include sex, FEV(1), use of oxygen therapy, and number of visits to emergency rooms and hospital admissions