Spanish Patients Research Articles

Validating the Spanish translation of the posttraumatic stress disorder checklist (PCL-5) in a sample of individuals with traumatic brain injury.

There is controversy regarding the comorbidity of posttraumatic stress disorder (PTSD) and traumatic brain injury (TBI). The present study translated the PTSD Checklist for DSM-5 (PCL-5) to Spanish and validated it in a sample of patients with TBI 6 months after the injury. The study included 233 patients (162 males and 71 females) recruited from four Spanish hospitals within 24 h of traumatic brain injury. A total of 12.2% of the sample met the provisional PTSD diagnostic criteria, and the prevalence was equal between male and female participants. The analysis confirmed the internal consistency of the translated instrument (α = 0.95). The concurrent validity of the instrument was confirmed based on high correlation coefficients of 0.7 and 0.74 with the General Anxiety Disorder-7 (GAD-7) and Patient Health Questionnaire (PHQ-9), respectively. Exploratory factor analysis also confirmed that the items on the PCL-5 can be differentiated from the GAD-7 and PHQ-9 items. Confirmatory factor analysis (CFA) was used to examine the structural validity of the Spanish translation of the PCL-5 with three different models. CFA partially confirmed the four-factor PTSD model, whereas both the six-factor anhedonia model and the seven-factor hybrid model showed adequate fit. However, the difference between the anhedonia and hybrid models was not statistically significant; moreover, both models showed signs of overfitting. Therefore, the utility of these models should be reexamined in future studies. Overall, the results suggest that the Spanish translation of the PCL-5 is a reliable and valid instrument for screening PTSD symptoms among Spanish TBI patients. The Spanish translation of the PCL-5 is also presented in the manuscript.

Real-world insights on anticoagulation therapies in non-valvular atrial fibrillation: a comprehensive electronic health record-based study using natural language processing and machine learning

Abstract Background Limited evidence exists regarding real-world practices and outcomes of oral anticoagulation in patients with Non-Valvular Atrial Fibrillation (NVAF). Purpose To conduct a retrospective real-world data (RWD) study using Natural Language Processing (NLP) and Machine Learning (ML) on Electronic Health Records (EHRs) to evaluate the efficacy and safety of Direct Oral Anticoagulants (DOACs) and vitamin K antagonists (VKAs) in NVAF patients. Methods Retrospective study in 15 Spanish hospitals between 2014-2020 including adult NVAF patients treated with oral anticoagulants without anticoagulation history, recent thrombotic events, rheumatic mitral valvular heart disease, mitral valve stenosis, venous thromboembolism, nor pregnancy. We employed EHRead®, a free text analysis engine utilizing NLP and ML to extract RWD from EHRs based in SNOMED CT (standardized coding system). Free-text information was extracted and organized in an anonymized database for population-based descriptive and comparative analysis. After matching patients using propensity-score matching (PSM), we used Kaplan-Meier curves to compare VKA vs DOAC efficacy on thrombotic prevention, safety, and mortality. Results After evaluating 138,773,332 EHRs from 4.6 million patients, 44,292 NVAF patients were included; 35,267 (79.6%) treated with VKA and 9,025 (20.4%) with DOAC. Half of them were men (53.0%) with a mean (SD) age of 76.3 (12.7) years. VKA-treated patients tended to be older, with more cardiovascular comorbidities and higher CHA2DS2-VASc scores than DOACs-treated patients (Table 1). Using PSM, 8,930 patients were matched per subgroup with standardized mean differences below 10% for all confounders. The comparative analysis showed that DOAC-treated patients had a significant lower risk of thrombotic, minor bleeding events, and mortality than VKA-treated ones, with no significant differences in major bleeding (Figure 1). Conclusion The application of NLP and ML allowed us to create an extensive, plausible, and detailed database of Spanish NVAF patients from RWD in EHRs. In our cohort, we found a higher efficacy and lower mortality and minor bleeding events with DOACs over VKAs, without differences in major bleeding events. This study was sponsored by Pfizer and Bristol Myers Squibb. JCS, MA & CS were paid consultants to Pfizer and Bristol Myers Squibb in connection with the development of this abstract. CAC & LMS are employes of the SAVANA who were paid consultants to Pfizer and Bristol Myers Squibb in connection with the development of this abstract. DA & SFC are employees of Pfizer.Table 1Figure 1

Transcultural adaptation and validation of IMPACT-III and IMPACT-III-P in Spanish families: a multicenter study from SEGHNP.

The SEGHNP versions of IMPACT-III and IMPACT-III-P are valid and reliable instruments for Spanish p-IBD families. • IMPACT-III and parent-proxy IMPACT-III (IMPACT-III-P) are useful questionnaires for assessing health-related quality of life (HRQoL) in pediatric inflammatory bowel disease (p-IBD) patients and their parents/caregivers and have been translated and validated in several countries. • To date, no transcultural adaptation and validation of these questionnaires have been published for Spanish patients with p-IBD and their families. • This is the first transcultural adaptation and validation of IMPACT-III and IMPACT-III-P for Spanish p-IBD families. • These are valid and reliable instruments for assessing HRQoL in Spanish families of patients with p-IBD.

Quality of Life and Clinical Impairment in Spanish Adolescent Anorexia Nervosa Patients.

Eating disorders have serious physical, mental and social consequences that can affect the quality of life of the sufferer. This study aimed to evaluate the relationship between the severity of ED-related psychopathology and clinical impairment in adolescents with anorexia nervosa (AN) as well as their perception of health-related quality of life. Eighty-six Spanish young women with AN completed a set of questionnaires assessing eating disorder pathology, clinical impairment, and quality of life. The set included the following instruments: the Eating Disorder Examination Questionnaire, Clinical Impairment Assessment, Short Form-12 Item Health Survey, and the Eating Disorder-Specific Heath-Related Quality of Life instrument. Descriptive and regression analyses were applied to identify associations between variables. Higher scores on clinical impairment domains were associated with greater impairment of mental and physical health. Moreover, clinical impairment domains and concerns due to ED were related to a lower quality of life. In conclusion, adolescents with AN have a poor quality of life. Moreover, the findings suggest that the clinical features of impairment may serve as severity indicators of quality of life.

Higher Concentrations of Essential Trace Elements in Women Undergoing IVF May Be Associated with Poor Reproductive Outcomes Following Single Euploid Embryo Transfer.

Essential trace elements are micronutrients whose deficiency has been associated with altered fertility and/or adverse pregnancy outcomes, while surplus may be toxic. The concentrations of eight essential trace elements were measured using inductively coupled mass spectrometry (ICP-MS) and assessed with respect to clinical in vitro fertilization (IVF) outcomes in a population of 51 women undergoing IVF with intracytoplasmic sperm injection (ICSI), pre-implantation genetic screening for aneuploidy (PGT-A), and single frozen euploid embryo transfer (SET/FET). Specifically, copper (Cu), zinc (Zn), molybdenum, selenium, lithium, iron, chromium, and manganese were quantified in follicular fluid and whole blood collected the day of vaginal oocyte retrieval (VOR) and in urine collected the day of VOR and embryo transfer. We found that the whole blood Cu/Zn ratio was significantly associated with superior responses to ovarian stimulation. Conversely, the whole blood zinc and selenium concentrations were significantly associated with poor ovarian response outcomes. Higher levels of whole blood zinc and selenium, urinary selenium, lithium, and iron had significant negative associations with embryologic outcomes following IVF. Regarding clinical IVF outcomes, higher urinary molybdenum concentrations the day of VOR were associated with significantly lower odds of implantation and live birth, while higher urinary Cu/Mo ratios on the day of VOR were associated with significantly higher odds of implantation, clinical pregnancy, and live birth. Our results suggest that essential trace element levels may directly influence the IVF outcomes of Spanish patients, with selenium and molybdenum exerting negative effects and copper-related ratios exerting positive effects. Additional studies are warranted to confirm these relationships in other human populations.

Cross-cultural adaptation and validation of the shoulder rating questionnaire in Spanish patients with chronic nonsurgical shoulder pain

Chronic shoulder pain is characterized by persistent discomfort in the shoulder joint that can be due to various causes, affecting the patient's quality of life. One hundred twenty three participants (54.83±11.73 years) completed the Spanish SRQ. Internal consistency, floor and ceiling effect, and test-retest reliability were analyzed. We also studied construct validity, as well as convergent (quick Disabilities of the Arm, Shoulder, and Hand questionnaire) and concurrent (12-item Short Form Health Survey) validity. The ability and accuracy to discriminate between patients with and without anxiety and depression cases was evaluated with the Hospital Anxiety and Depression Scale; a receiver-operating characteristic curve analysis was used. The Spanish SRQ showed an appropriate level of internal consistency and test-retest reliability. Factor analysis revealed a 2-factor structure. The Spanish SRQ total score and domains showed good convergent and concurrent validity. The total score was significantly able to discriminate between participants with and without symptoms related to probable presence of anxiety or depression (cut-off point of 34.17). The Spanish SRQ was found to be a valid and reliable instrument for assessing shoulder symptoms and function and discriminating the probable presence of anxiety and depression in patients with chronic nonsurgical shoulder pain.

"Caminando Con Riesgo": perceptions of occupational injury, workplace safety and workers rights among Spanish-speaking hospitalized patients.

Occupational health disparities are well documented among immigrant populations and occupational injury remains a high cause of morbidity and mortality among immigrant populations. There are several factors that contribute to the high prevalence of work-related injury among this population and those without legal status are more likely to experience abusive labor practices that can lead to injury. While the work-related injuries and experiences of Spanish-speaking workers have been explored previously, there is a paucity of literature documenting injury among hospitalized patients. Additionally, there are few documented hospital-based occupational injury prevention programs and no programs that implement workers rights information. The purpose of this study was to further explore the context of work related injuries primarily experienced by Spanish speaking patients and knowledge of their rights in the workplace. This was a semi-structured qualitative interview study with Spanish speaking patients admitted to the hospital for work related injuries. The study team member conducting interviews was bilingual and trained in qualitative methodology. An interview guide was utilized for all interviews and was developed with an immigrant workers rights organization and study team expertise, and factors documented in the literature. Participants were asked about the type and context of the injury sustained, access and perceptions of workplace safety, and knowledge of participants rights as workers. All interviews were conducted in Spanish, recorded, transcribed in Spanish and then translated into English. A codebook was developed and refined iteratively and two independent coders coded all English transcripts using Dedoose. Interviews were conducted until thematic saturation was reached and data was analyzed using a thematic analysis approach. A total of eight interviews were completed. All participants reported working in hazardous conditions that resulted in an injury. Participants expressed a relative acceptance that their workplace environment was dangerous and acknowledged that injuries were common, essentially normalizing the risk of injury. There were varying reports of access to and utilization of safety information and equipment and employer engagement in safety was perceived as a facilitator to safety. Most participants did have some familiarity with Occupational Safety and Health Administration (OSHA) inspections but were not as familiar with OSHA procedures and their rights as workers. We identified several themes related to workplace injury among Spanish speaking patients, many of which raise concerns about access to workplace safety, re-injury and long-term recovery. The context around immigration is particularly important to consider and may lead to unique risk factors for injury, recovery, and re-injury both in the workplace and beyond the workplace, suggesting that perhaps immigration status alone may serve as a predisposition to injury. Thus, it is critical to understand the context around work related injuries in this population considering the tremendous impact of employment on one's health and financial stability. Further research on this topic is warranted, specifically the exploration of multiple intersecting layers of exposure to injury among immigrant populations. Future work should focus on hospital-based strategies for injury prevention and know your rights education tailored to Spanish speaking populations.

Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity.

Telomeres are nucleoprotein structures at the end of chromosomes that maintain their integrity. Mutations in genes coding for proteins involved in telomere protection and elongation produce diseases such as dyskeratosis congenita or idiopathic pulmonary fibrosis known as telomeropathies. These diseases are characterized by premature telomere shortening, increased DNA damage and oxidative stress. Genetic diagnosis of telomeropathy patients has identified mutations in the genes TERT and TERC coding for telomerase components but the functional consequences of many of these mutations still have to be experimentally demonstrated. The activity of twelve TERT and five TERC mutants, five of them identified in Spanish patients, has been analyzed. TERT and TERC mutants were expressed in VA-13 human cells that express low telomerase levels and the activity induced was analyzed. The production of reactive oxygen species, DNA oxidation and TRF2 association at telomeres, DNA damage response and cell apoptosis were determined. Most mutations presented decreased telomerase activity, as compared to wild-type TERT and TERC. In addition, the expression of several TERT and TERC mutants induced oxidative stress, DNA oxidation, DNA damage, decreased recruitment of the shelterin component TRF2 to telomeres and increased apoptosis. These observations might indicate that the increase in DNA damage and oxidative stress observed in cells from telomeropathy patients is dependent on their TERT or TERC mutations. Therefore, analysis of the effect of TERT and TERC mutations of unknown function on DNA damage and oxidative stress could be of great utility to determine the possible pathogenicity of these variants.

Readability of online patient education materials for shoulder instability surgery in English and Spanish

Online patient education materials (OPEMs) exist to inform patient medical decisions, yet the average adult in the United States reads at an eighth-grade level and 50% of Medicaid patients read at or below a fifth-grade level. To appropriately meet US health literacy needs, the American Medical Association and National Institutes of Health recommend that patient education materials not exceed a sixth-grade level. The purpose of this study was to assess and compare the readability of English and Spanish online patient education materials pertaining to shoulder instability surgery. Google searches of the terms "shoulder instability surgery" and "cirugía de inestabilidad de hombro'' were conducted to include 25 eligible online patient education materials OPEMs per language. English OPEM readability was calculated using Flesch-Kincaid Grade Level, Flesch Reading Ease, Flesch Reading Ease Grade Level, Gunning-Fog Index, Coleman-Liau Index, and Simple Measure of Gobbledygook. Spanish OPEM readability was assessed using Fernandez-Huerta Index (FHI) (the Spanish equivalent of Flesch Reading Ease), FHI Grade Level, Gutiérrez de Polini's Fórmula de comprensibilidad, and INFLESZ. Readability index analysis revealed that the mean Flesch Reading Ease of English online patient education materials was significantly lower than the mean FHI of Spanish online patient education materials. English materials were also found to be written at a significantly higher grade level than Spanish materials. Shoulder instability surgery online patient education materials in both English and Spanish are written at higher reading levels than recommended by the American Medical Association and National Institutes of Health, though Spanish online patient education materials were more readable on average.

Clinical prediction of opioid use disorder in chronic pain patients: a cohort-retrospective study with a pharmacogenetic approach.

Opioids are widely used in chronic non-cancer pain (CNCP) management. However, they remain controversial due to serious risk of causing opioid use disorder (OUD). Our main aim was to develop a predictive model for future clinical translation that include pharmacogenetic markers. An observational study was conducted in 806 pre-screened Spanish CNCP patients, under long-term use of opioids, to compare cases (with OUD, N.=137) with controls (without OUD, N.=669). Mu-opioid receptor 1 (OPRM1, A118G, rs1799971) and catechol-O-methyltransferase (COMT, G472A, rs4680) genetic variants plus cytochrome P450 2D6 (CYP2D6) liver enzyme phenotypes were analyzed. Socio-demographic, clinical and pharmacological outcomes were also registered. A logistic regression model was performed. The model performance and diagnostic accuracy were calculated. OPRM1-AA genotype and CYP2D6 poor and ultrarapid metabolizers together with three other potential predictors: 1) age; 2) work disability; 3) oral morphine equivalent daily dose (MEDD), were selected with a satisfactory diagnostic accuracy (sensitivity: 0.82 and specificity: 0.85), goodness of fit (P=0.87) and discrimination (0.89). Cases were ten-year younger with lower incomes, more sleep disturbances, benzodiazepines use, and history of substance use disorder in front of controls. Functional polymorphisms related to OPRM1 variant and CYP2D6 phenotypes may predict a higher OUD risk. Established risk factors such as young age, elevated MEDD and lower incomes were identified. A predictive model is expected to be implemented in clinical setting among CNCP patients under long-term opioids use.

Real life experience of tafamidis for the treatment of Spanish patients with Val30Met transthyretin amyloidosis with polyneuropathy

IntroductionTafamidis is the only approved transthyretin stabiliser approved for the treatment of variant transthyretin amyloidosis (A-ATTRv) related polyneuropathy (PNP). The aim of this study is to analyse the effectiveness of tafamidis in a real-world setting in Spain. MethodsThis is a national multicenter study in which patients with V30M A-ATTR related PN treated with tafamidis for at least 1 year were included. Clinical, demographic, analytical and neurophysiological variables were analysed. Results100 patients were recruited. Overall, 47 patients (47%) were classified as complete responders, 32 (32%) as partial responders and 21 (21%) as non-responders. The median duration of treatment with tafamidis was 35 months. Better treatment response was shown in patients with in polyneuropathy disability score (PND) I, lower neuropathy impairment score (NIS), compound muscle action potential (CMAP) and Norfolk QoL questionnaire. Higher albumin levels and lower NTproBNP levels were also associated with better treatment response. A basal NIS≥15 predicts that the patient could be a non-responder with a 60% probability. ConclusionsOur results reinforce the tafamidis efficacy to treat A-ATTRv-PNP if started early in the disease course. Patients with the V30M variant, NIS<15 and PND I are the most appropriate subjects for this treatment.

Combined use of QRISK3 and SCORE2 increases identification of ankylosing spondylitis patients at high cardiovascular risk: Results from the CARMA Project cohort after 7.5 years of follow-up

ObjectiveTo establish the predictive value of the QRESEARCH risk estimator version 3 (QRISK3) algorithm in identifying Spanish patients with ankylosing spondylitis (AS) at high risk of cardiovascular (CV) events and CV mortality. We also sought to determine whether to combine QRISK3 with another CV risk algorithm: the traditional SCORE, the modified SCORE (mSCORE) EULAR 2015/2016 or the SCORE2 may increase the identification of AS patients with high-risk CV disease. MethodsInformation of 684 patients with AS from the Spanish prospective CARdiovascular in ReuMAtology (CARMA) project who at the time of the initial visit had no history of CV events and were followed in rheumatology outpatient clinics of tertiary centers for 7.5 years was reviewed. The risk chart algorithms were retrospectively tested using baseline data. ResultsAfter 4,907 years of follow-up, 33 AS patients had experienced CV events. Linearized rate=6.73 per 1000 person-years (95 % CI: 4.63, 9.44). The four CV risk scales were strongly correlated. QRISK3 correctly discriminated between people with lower and higher CV risk, although the percentage of accumulated events over 7.5 years was clearly lower than expected according to the risk established by QRISK3. Also, mSCORE EULAR 2015/2016 showed the same discrimination ability as SCORE, although the percentage of predicted events was clearly higher than the percentage of actual events. SCORE2 also had a strong discrimination capacity according to CV risk. Combining QRISK3 with any other scale improved the model. This was especially true for the combination of QRISK3 and SCORE2 which achieved the lowest AIC (406.70) and BIC (415.66), so this combination would be the best predictive model. ConclusionsIn patients from the Spanish CARMA project, the four algorithms tested accurately discriminated those AS patients with higher CV risk and those with lower CV risk. Moreover, a model that includes QRISK3 and SCORE2 combined the best discrimination ability of QRISK3 with the best calibration of SCORE2.

Cost-Utility of Attachment-Based Compassion Therapy (ABCT) and Mindfulness-Based Stress Reduction (MBSR) in the Management of Depressive, Anxious, and Adjustment Disorders in Mental Health Settings: Economic Evaluation Alongside a Randomized Controlled Trial

ObjectivesThe main objective of this paper was to examine the cost-utility of attachment-based compassion therapy (ABCT) compared to Mindfulness-Based Stress Reduction (MBSR) and treatment-as-usual (TAU) on patients with depressive and/or anxious disorder, or adjustment disorder with depressive and/or anxious symptomatology in terms of effects on quality-adjusted life years (QALYs) as well as healthcare costs from a public healthcare system perspective.MethodA 6-month randomized controlled trial was conducted. Ninety Spanish patients with mental disorders (depressive, anxious, or adjustment disorders) received 8 weekly group sessions of TAU + ABCT, TAU + MBSR, or TAU alone. Data collection took place at pre- and 6-month follow-up. Cost-utility of the two treatment groups (ABCT vs MBSR vs TAU) was compared by examining treatment outcomes in terms of QALYs (obtained with the EQ-5D-3L) and healthcare costs (data about service use obtained with the Client Service Receipt Inventory).ResultsBoth MBSR and ABCT were more efficient than TAU alone, although the results did not reach statistical significance. Compared to ABCT, MBSR produced an increase both in terms of costs (€53.69, 95% CI [− 571.27 to 513.14]) and effects (0.004 QALYs, 95% CI [− 0.031 to 0.049]); ICUR = €13,422.50/QALY). Both interventions significantly reduced the number of visits to general practice compared to TAU.ConclusionsThis study has contributed to the evidence base of mindfulness- and compassion-based programs and provided promising information about the cost-utility of MBSR for patients with emotional disorders. However, the small sample size and short follow-up period limit the generalizability of the findings.PreregistrationClinicaltrials.gov; NCT03425487.

Experiences of using the MINDSET Self-Management mobile health app among Hispanic Patients:Results of a qualitative study

BackgroundInterventions focusing on epilepsy self-management (ESM) are vital for promoting the health of people living with epilepsy. E-technology and mobile health (mHealth) tools are becoming increasingly integrated into practice to promote self-management strategies for chronic diseases, enhance care delivery, and reduce health disparities. Management Information and Decision Support Epilepsy Tool (MINDSET), a bilingual decision support tool (available in English and Spanish), was found to be both feasible and effective in facilitating goal-based ESM in the clinic. PurposeTo assess the experience of using MINDSET as an ESM intervention among Hispanic patients with epilepsy to inform future interventional studies. MethodsThis study used a Qualitative Descriptive (QD) framework to provide a rich and straightforward description of patients’ subjective experiences using MINDSET. Participants were enrolled in the intervention group of a larger parent study (RCT) to assess the efficacy of MINDSET among Hispanic People with Epilepsy (PWE). The purposive, convenient, criterion-based sample for this qualitative analysis comprised of 42 patients who agreed to participate in a semi-structured interview at the end of the larger RCT. This RCT was conducted between August 2017 and January 2019. Spanish and English-speaking Hispanic adult patients (n = 94) with epilepsy in Arizona (n = 53) and Texas (n = 41) were randomly assigned within 6 neurology clinics to treatment (MINDSET plus Usual Care, hereafter referred to as MINDSET; n = 46) and comparison (Usual Care Only; n = 48) conditions. ResultsPatient demographics, epilepsy conditions, and ESM behavioral characteristics were representative of the intervention group. Study participants were Hispanic, mainly of Mexican descent (94 %), with a mean age of 39 years, mostly female (53 %), and most of the participants reported having had one or more seizures per month (54 %). The MINDSET intervention revealed five ESM themes: (1) Awareness and Realization of Epilepsy Self-Management, (2) Communication and Partnership with Health Care Providers HCP, (3) Epilepsy Self-Management and Quality of Life, (4) Seizure Control, and (5) Optimism and Agency. ConclusionThe participants who used MINDSET as a self-management intervention reported an overall positive experience. Qualitative data in this study show that MINDSET is a valuable ESM tool for Hispanic patients with epilepsy. Findings from this qualitative study were consistent with results from a larger parent study that recognized MINDSET as an effective platform for improving epilepsy self-management adherence.

The management of paediatric acute pain in Spain in 2021: Results of a national survey among paediatric anaesthesiologists

ObjectiveTo improve knowledge about routine clinical practice in the management of paediatric acute pain in Spain. MethodsA telematic survey was conducted via the Internet on a representative sample of healthcare professionals involved in the management of paediatric acute pain (specifically anaesthesiologists) in Spain. The survey included 28 questions about their usual clinical practice in the assessment and treatment of acute pain, and also training and organisational aspects in paediatric acute pain. ResultsThe survey was completed during March 2021 by 150 specialists in anaesthesiology. The respondents widely experienced in the management of acute paediatric pain (mean years of experience: 14.3: SD: 7.8), essentially in acute postoperative pain (97% of cases). Although 80% routinely used validated paediatric acute pain assessment scales, only 2.6% used specific scales adapted for patients with cognitive impairment. Most of the respondents routinely used analgesic drugs such as paracetamol (99%) or metamizole (92%), but only 84% complemented these drugs with a loco-regional blocking technique or other non-steroidal anti-inflammatory drugs (62%). Furthermore, only 62.7% acknowledged having received specific training in paediatric acute pain, only 45% followed hospital institutional protocols, and a scant 28% did so through paediatric pain units. ConclusionsThe survey identified important points for improvement in the training and organisation of acute pain management in Spanish paediatric patients.

RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy

BackgroundSpinal Muscular Atrophy (SMA) is a rare neuromuscular disorder characterized by progressive degeneration of motor neurons and muscle weakness resulting in premature death or severe motor disability. Over the last decade, SMA has dramatically changed thanks to new advances in care and the emergence of disease-specific treatments. RegistrAME is a self-reported specific disease registry with an accurate curation system. It has collected data on SMA patients in Spain since 2015, gathering demographic, clinical, and patient-reported outcome data, all of which are patient-relevant. RegistrAME is part of the TREAT NMD network. This study aims to describe the advantages and disadvantages of a self–reported SMA registry, as well as the different variables of interest in the health status of RegistrAME patients.ResultsIn total, 295 living patients with a confirmed diagnosis of SMA-5q were included (aged 1 to 77 years; mean 20.28). Half of the patients (50.2%) were ≥ 16 years old; 22.03% were type 1, 48.47% were type 2, 28.82% were type 3, and 0.7% were type 4. All functional statuses (non-sitter, sitter, and walkers) could be observed in each SMA type. Adult patients harbored the least aggressive SMA types, however, they presented the greatest level of disability. Patients with SMA type 1 had scoliosis surgery about five years earlier than patients with SMA type 2. None of the type 1 patients who achieved ambulation were wheelchair-free outdoors. This was also evident in 62.5% of type 2 walker patients and 44% of type 3 walker patients. Of the SMA type 1 patients, 40% had a gastrostomy (of which 84% had two SMN2 copies). One in five children with SMA type 1 (one to seven years of age) were ventilation-free.ConclusionsThe information provided by RegistrAME in a “real-world” setting allows better management of family expectations, an adequate approach to the disease and patients’ needs, as well as a better understanding of the impact of the disease. It also helps monitor the evolution of care, which will result in the need for updated guidelines.

Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.

We report the cases of two Spanish pediatric patients with hypotonia, muscle weakness and feeding difficulties at birth. Whole-exome sequencing (WES) uncovered two new homozygous VAMP1 (Vesicle Associated Membrane Protein 1) splicing variants, NM_014231.5:c.129+5 G > A in the boy patient (P1) and c.341-24_341-16delinsAGAAAA in the girl patient (P2). This gene encodes the vesicle-associated membrane protein 1 (VAMP1) that is a component of a protein complex involved in the fusion of synaptic vesicles with the presynaptic membrane. VAMP1 has a highly variable C-terminus generated by alternative splicing that gives rise to three main isoforms (A, B and D), being VAMP1A the only isoform expressed in the nervous system. In order to assess the pathogenicity of these variants, expression experiments of RNA for VAMP1 were carried out. The c.129+5 G > A and c.341-24_341-16delinsAGAAAA variants induced aberrant splicing events resulting in the deletion of exon 2 (r.5_131del; p.Ser2TrpfsTer7) in the three isoforms in the first case, and the retention of the last 14 nucleotides of the 3' of intron 4 (r.340_341ins341-14_341-1; p.Ile114AsnfsTer77) in the VAMP1A isoform in the second case. Pathogenic VAMP1 variants have been associated with autosomal dominant spastic ataxia 1 (SPAX1) and with autosomal recessive presynaptic congenital myasthenic syndrome (CMS). Our patients share the clinical manifestations of CMS patients with two important differences: they do not show the typical electrophysiological pattern that suggests pathology of pre-synaptic neuromuscular junction, and their muscular biopsies present hypertrophic fibers type 1. In conclusion, our data expand both genetic and phenotypic spectrum associated with VAMP1 variants.

Adaptation and validation of a patient-reported compassion measure in the Spanish population: The Spanish version of the Sinclair Compassion Questionnaire (SCQesp).

International practice guidelines and policies recognize compassion as a fundamental dimension of quality care. A key element in enhancing compassion in healthcare settings is having reliable patient-reported experience measures. In the Spanish context, there is a need for a valid Spanish patient-reported compassion measure for use in both research and clinical practice. The Sinclair Compassion Questionnaire (SCQ) represents the gold standard for patient-reported compassion measures in English-speaking settings. The primary aim of this study is to culturally adapt and validate the SCQ in a Spanish population. A Spanish version of the SCQ (SCQesp) was used to collect data from 303 Spanish patients (in two contexts: hospitalized and medical visit). Confirmatory factor analysisconfirmed a one-factor solution in the 15-item (SCQesp) and five-item (SCQesp-SF) short form version. The SCQesp showed excellent values of reliability: Cronbach's α = 0.98; composite variance = 0.98 (0.905-0.854); and stratified variance = 0.78. The SCQesp-SF showed similar values of reliability. The SCQesp has excellent psychometric properties, making it a valid and reliable measure for assessing compassion in healthcare research and clinical care. This scientifically rigorous and psychometrically robust compassion measure in Spanish could allow healthcare providers, researchers, and leaders to routinely assess compassion.

A Systematic Review on the Genetic Contribution to Tinnitus

PurposeTo assess the available evidence to support a genetic contribution and define the role of common and rare variants in tinnitus.MethodsAfter a systematic search and quality assessment, 31 records including 383,063 patients were selected (14 epidemiological studies and 17 genetic association studies). General information on the sample size, age, sex, tinnitus prevalence, severe tinnitus distribution, and sensorineural hearing loss was retrieved. Studies that did not include data on hearing assessment were excluded. Relative frequencies were used for qualitative variables to compare different studies and to obtain average values. Genetic variants and genes were listed and clustered according to their potential role in tinnitus development.ResultsThe average prevalence of tinnitus estimated from population-based studies was 26.3% for any tinnitus, and 20% of patients with tinnitus reported it as an annoying symptom. One study has reported population-specific differences in the prevalence of tinnitus, the white ancestry being the population with a higher prevalence. Genome-wide association studies have identified and replicated two common variants in the Chinese population (rs2846071; rs4149577) in the intron of TNFRSF1A, associated with noise-induced tinnitus. Moreover, gene burden analyses in sequencing data from Spanish and Swede patients with severe tinnitus have identified and replicated ANK2, AKAP9, and TSC2 genes.ConclusionsThe genetic contribution to tinnitus is starting to be revealed and it shows population-specific effects in European and Asian populations. The common allelic variants associated with tinnitus that showed replication are associated with noise-induced tinnitus. Although severe tinnitus has been associated with rare variants with large effect, their role on hearing or hyperacusis has not been established.

Bone involvement outcomes in Spanish patients with Gaucher disease type 1 treated with eliglustat: Sub-study International Collaborative Gaucher Group (ICGG)

Bone involvement outcomes in Spanish patients with Gaucher disease type 1 treated with eliglustat: Sub-study International Collaborative Gaucher Group (ICGG)