Rafael José Esteban de la Rosa

Objective: To evaluate the psychometric properties of the Spanish version of the Chronic Rhinosinusitis Patient-Reported Outcome (CRS-PRO) measure in patients with chronic rhinosinusitis (CRS), including those with and without nasal polyps. Methods: A cross-sectional validation study was conducted with 124 CRS patients recruited from a tertiary otolaryngology center. Internal consistency (Cronbach’s α), test–retest reliability (ICC), construct validity (exploratory factor analysis), concurrent validity (Pearson correlation with NPQ, NOSE-E, and SNOT-22), and discriminative capacity (ROC curve analysis) were assessed. A subsample of 35 patients completed the CRS-PRO twice to evaluate reproducibility. Results: Factor analysis confirmed a three-factor structure (rhinologic symptoms, psychosocial impact, and facial discomfort), explaining 69.4% of the variance. Internal consistency was excellent (α = 0.874), and test–retest reliability was very high (ICC = 0.986; SEM = 2; MDC95 = 3). All items demonstrated moderate to high item-total correlations. The CRS-PRO strongly correlated with NPQ ( r = 0.848), NOSE-E ( r = 0.849), and SNOT-22 ( r = 0.803). ROC analysis yielded an AUC of 0.929, with an optimal cut-off point of > 22 points (sensitivity 86.67%, specificity 86.08%) to identify severe symptom burden. Conclusions: The Spanish CRS-PRO is a valid, reliable, and efficient instrument for assessing disease-specific quality of life in CRS. Its strong psychometric performance, brevity, and diagnostic accuracy support its use in routine clinical practice, research, and digital health applications. These findings establish the CRS-PRO as a core PROM for Spanish-speaking patients with CRS. Clinical trial registration: Not applicable.

Background and objectives: Pain neuroscience education (PNE) is a therapeutic strategy aimed at reconceptualizing pain in patients with chronic low back pain (CLBP). This systematic review with a meta-analysis (SRMA) aimed to assess the effectiveness of PNE in reducing pain, disability, kinesiophobia, and catastrophizing in patients with CLBP at the end of the intervention, and at 1 and 3 months of follow-up. Materials and Methods: Following PRISMA guidelines, an SRMA was conducted after searching in PubMed Medline, Scopus, Web of Science, and PEDro databases from inception up to June 2025. The inclusion criteria agreed with the PICOS tool: population (patients with CLBP), intervention (PNE), comparator (physiotherapy or non-intervention), outcomes (pain, disability, kinesiophobia, and catastrophizing), and study design (randomized controlled trials (RCTs) and pilot RCTs). The PEDro scale was used to assess the methodological quality and risk of bias of the RCTs included. The pooled effect was assessed using the Cohen standardized mean difference (SMD) and its 95% confidence interval (95% CI) in a random-effects model. Results: Fifteen RCTs, including data from 810 patients (43.7 ± 5.2 years; 61% female) with CLBP were included. The mean methodological quality of the RCTs included was good (6.8 ± 1.1 on the PEDro scale). Selection, performance, and detection were the most important biases identified. Our meta-analysis demonstrated, at the end of the intervention, and at 1 and 3 months of follow-up, respectively, that PNE is effective in reducing pain intensity (SMD = −0.65, p = 0.005; SMD = −1.1, p < 0.001; SMD = −1; p < 0.001), disability (SMD = −0.6, p = 0.009; SMD = −0.78, p = 0.002; SMD = −0.84; p = 0.004), and kinesiophobia (SMD = −1.12, p < 0.001; SMD = −1.51, p < 0.001; SMD = −1.57; p = 0.001). In reducing catastrophizing, PNE was largely effective at the end of intervention (SMD = −0.9, p = 0.016) and at 1 month of follow-up (SMD = −1.36, p = 0.007). Conclusions: Our findings demonstrate that PNE is an effective therapeutic approach for the management of CLBP, reducing pain, disability, kinesiophobia, and catastrophizing in patients with CLBP.

Background/Objectives: The objective of this study was to validate the Spanish version of the European Evaluation of Vertigo (EEV) and analyse its test–retest reliability, standard error of measurement (SEM), minimum detectable change (MDC), concurrent validity, and discriminant validity. Methods: A cross-sectional validation study was designed. Subjects were recruited from the Otolaryngology Service of the University Hospital of Jaen. Psychometric properties of the EEV were analysed, including the concurrent validity, the SEM, and the MDC. Discriminant validity was calculated using the receiver operating characteristic (ROC) curve. Results: The EEV test–retest reliability was nearly perfect (Kappa index = 0.97). The SEM and the MDC were set at 0.56 and 1.10, respectively. Regarding the discriminant validity, the area under the curve (AUC) was 0.831 (95% CI; 0.743–0.899) for the BPPV prediction, the AUC = 0.731 (95% CI; 0.633–0.815) for the disability prediction from the ABC-16 score, and the AUC = 0.846 (95% CI; 0.760–0.911) for the disability prediction from the ABC-6 score. Furthermore, a cut-off point greater than 12 was a good predictor of disability and the fall risk measured with the ABC scale, whereas a value of 11 points was a good predictor for discriminating BPPV patients. Conclusions: The Spanish version of the EEV is a valid and reliable instrument for evaluating the clinical symptoms of vestibular syndrome. This instrument demonstrated a nearly perfect test-retest reliability, a low measurement error, and good accuracy in discriminating between patients with vestibular disorders and those with BPPV.

Background: Manual therapy (MT) and occlusal splint therapy (OST) are the most conservative therapies applied on patients with temporomandibular disorders (TMDs). The aim was to compare the efficacy of MT vs. OST in improving pain, maximal mouth opening (MMO), disability, and health related-quality of life (hr-QoL) in these patients. Methods: According to PRISMA guidelines, a meta-analysis (CRD42022343915) was conducted including randomized controlled trials comparing the effectiveness of MT vs. OST in TMD patients, after searching in PubMed, PEDro, SCOPUS, and WOS up to March 2024. Methodological quality and risk of bias were assessed using the PEDro Scale. Cohen’s standardized mean difference (SMD) and its 95% confidence interval (95% CI) were the pooled effect measures calculated. Results: Nine studies, providing data from 426 patients, were included. Meta-analyses revealed that MT is more effective than OST in reducing disability (SMD = −0.81; 95% CI −1.1 to −0.54) and increasing MMO (SMD = 0.52; 95% CI 0.27 to 0.76) without differences for improving pain intensity and hr-QoL. Subgroup analyses revealed the major efficacy of OST in reducing pain in myogenic patients (SMD = 0.65; 95% CI 0.02 to 1.28). Conclusions: With caution, due to the low number of studies included, MT may be more effective than OST for improving disability and MMO in patients with TMDs.

Key Points: Lademirsen, an anti–microRNA-21 therapy, was generally well-tolerated in adults with Alport syndrome at risk of rapid disease progression. There were no significant differences between lademirsen-treated and placebo-treated participants in eGFR at any timepoint. The proportions of participants with prespecified reductions in eGFR at weeks 24 and 48 were not significantly different for lademirsen versus placebo. Background: Preclinical models of disease have suggested that targeting microRNA-21 (miRNA-21) may slow the decline in kidney function in individuals with Alport syndrome (AS). The objective of this study was to investigate the effects of the anti–miRNA-21 oligonucleotide, lademirsen, on rate of eGFR decline in adults with AS at risk of rapid disease progression. Methods: This study was a phase 2 trial of lademirsen, with a randomized, double-blind, placebo-controlled period followed by an open-label period. Adults with AS, eGFR >35 to 2, and evidence of rapidly progressive kidney dysfunction were randomized 2:1 to lademirsen 110 mg subcutaneously once weekly or placebo for 48 weeks. After a planned interim analysis (after 24 of 43 randomized participants completed the week 48 study visit or discontinued before week 48), the trial was terminated for futility. Results: Forty-three adults with AS (26 men, 17 women) participated (mean age 34 years), and 28 (lademirsen: n=19; placebo: n=9) completed 48 weeks of double-blind treatment. All participants in both groups developed treatment-emergent adverse events, mainly respiratory tract infections, headache, dizziness, metabolic/electrolyte disturbances, and anemia. Treatment was discontinued in three lademirsen-treated participants in the double-blind period and one participant in the open-label period, owing to treatment-emergent adverse events. The least squares mean eGFR slope (95% confidence interval) over 48 weeks in the lademirsen and placebo groups was −5 (−8.7 to −1.1) and −5 (−10.2 to 0.8) ml/min per 1.73 m² per year, respectively. No significant differences between groups were identified in eGFR at any timepoint or in proportion of participants with prespecified reductions in eGFR at week 24 or 48. Conclusions: While anti–miRNA-21 therapy with lademirsen was generally well-tolerated with an acceptable safety profile, no meaningful improvement in rate of kidney function decline in adults with AS at risk of rapidly progressive disease was observed. Clinical Trial registration number: NCT02855268.

Introduction: The internal representation of verticality could be disturbed when a lesion in the central nervous system (CNS) affects the centers where information from the vestibular, visual, and/or somatosensory systems, increasing the risk of falling.Objective: The aim was to evaluate the vestibular and somatosensory contribution to the verticality pattern in patients with stroke and other neurological disorders.Methods: A literature search was performed in PubMed, Scopus, Web of Science, and CINAHL databases. Cross‐sectional, case–control, and cohort studies comparing body verticality in patients with stroke or CNS diseases (CNSD) versus healthy controls were selected. Subjective postural vertical (SPV) in roll and pitch planes was used as the primary variable.Results: Ten studies reporting data from 390 subjects were included. The overall effect for CNSD patients showed a misperception of body verticality in roll (standardized mean difference [SMD] = 1.05; 95% confidence interval [CI] .84–1.25) and pitch planes (SMD = 1.03; 95% CI .51–1.55). In subgroup analyses, a high effect was observed in the perception of SPV both in roll and pitch planes in stroke (p = .002) and other CNSD (p < .001).Conclusion: These findings suggest a potential misperception of SPV in patients with stroke and other neurological disturbances. Patients with CNSD could present an alteration of vestibular and somatosensory contribution to verticality construction, particularly stroke patients with pusher syndrome (PS), followed by those with PS combined with hemineglect.

Background: Our study aims to comment on all ADPKD variants identified in our health area and explain how they are distributed geographically, to identify new variants, and relate the more frequent variants with their renal phenotype in terms of kidney survival. Materials and Methods: We identified patients suffering from ADPKD in a specialized consultation unit; genealogical trees were constructed from the proband. According to the ultrasound-defined modified Ravine–Pei criteria, relatives classified as at risk were offered participation in the genetic study. Socio-demographic, clinical, and genetic factors related to the impact of the variant on the survival of the kidney and the patient, such as age at RRT beginning and age of death, were recorded. Results: In 37 families, 33 new variants of the PKD1 gene were identified, which probably produce a truncated protein. These variants included 2 large deletions, 19 frameshifts, and 12 stop-codons, all of which had not been previously described in the databases. In 10 families, six new probably pathogenic variants in the PKD2 gene were identified. These included three substitutions; two deletions, one of which was intronic and not associated with any family; and one duplication. A total of 11 missense variants in the PKD1 gene were grouped in 14 families and classified as probably pathogenic. We found that 33 VUS were grouped into 18 families and were not described in the databases, while another 15 were without grouping, and there was only 1 in the PKD2 gene. Some of these variants were present in patients with a different pathogenic variant (described or not), and the variant was probably benign. Renal survival curves were compared to nonsense versus missense variants on the PKD1 gene to check if there were any differences. A group of 328 patients with a nonsense variant was compared with a group of 264 with a missense variant; mean renal survival for truncated variants was lower (53.1 ± 0.46 years versus non-truncated variant 59.1 ± 1.36 years; Log Rank, Breslow, and Tarone Ware, p < 0.05). Conclusions: To learn more about ADPKD, it is necessary to understand genetics. By describing new genetic variants, we are approaching creation of an accurate genetic map of the disease in our country, which could have prognostic and therapeutic implications in the future.

A significant number of renal patients suffer from some hereditary nephropathy and are unaware of it. The information we have, derived from the clinical history and imaging tests, may be adequate to diagnose cases such as autosomal dominant polycystic kidney disease (ADPKD), but insufficient to diagnose other pathologies and at this point, molecular study provides support. We analyse the agreement between clinical and genetic diagnosis in 383 patients with renal disease to evaluate the usefulness of molecular analysis as a tool to reach an accurate diagnosis. Genetic testing was performed by massive sequencing on probands with chronic renal disease and suspected genetic cause from 2018 to 2022. Clinical-genetic diagnostic agreement in patients with ADPKD was 45%, however, in other less prevalent inherited pathologies, such as Alport syndrome drops to 26%, perhaps due to their diverse phenotypic spectrum, where autosomal dominant inheritance pattern is the most frequent. Additionally, we report the history of a family with hereditary chronic kidney disease where different clinical were proposed. The molecular study identified a new variant in COLA4A gene, present in heterozygosity in all affected individuals and the diagnosis of AS was pointed out. Genetics offers an approach to precision diagnosis of renal disease. Its availability helps clinician to better classify individuals and families, makes it easier for patients to participate in specific clinical trials and to choose reproductive options that prevent the transmission of the disease to offspring, which will contribute to reducing the frequency of hereditary nephropathy in the future.

Dry needling (DN) is an invasive physiotherapy technique employed for reducing myofascial pain. To compare the effectiveness of dry needling (DN) versus manual therapy (MT) in improving pain, active maximal mouth opening (AMMO) and cervical disability in patients with myofascial pain from temporomandibular disorders (TMDs) were investigated against these treatments. A single-blind, randomized controlled trial was carried out. Individuals (n = 50) with TMDs were randomly allocated in a 1:1 ratio to the DN (n = 25) or MT group (n = 25). Each group received three sessions, separated by 4 days, of either DN or MT. Outcomes were assessed according to pain intensity (Numeric Pain Rating Scale), AMMO (cm), disability (Neck Disability Index), and pressure–pain threshold (PPT) (digital algometry) from the active myofascial trigger points. In both groups, pain and neck disability were significantly lower at the end of treatment compared with those measured at baseline (pain: −2.52 with 95% CI: −3.43 to −1.60 for DN group; pain: −2.92 with 95% CI: −3.77 to −2.07 for MT group; disability: −3.2 with 95% CI: −4.31 to −2.09 for DN group; disability: −2.68 with 95% CI: −3.56 to −1.79 for MT group), but not were not lower after the first session, without differences between the groups. AMMO was significantly higher after the first session (0.16 with 95% CI: 0.03 to 0.29 for DN group; 0.30 with 95% CI: 0.20 to 0.41 for MT group) and at the end of treatment in both groups (0.27 with 95% CI: 0.14 to 0.41 for DN group; 0.37 with 95% CI: 0.22 to 0.52 for MT group) compared with the baseline measurements. Finally, PPT results for the masseter and pterygoid muscles were significantly higher at the end of treatment in both groups (without statistically significant differences between groups), but not after the first session. The assessed therapies, DN and MT, are equally effective in improving pain, AMMO, cervical disability, and PPT in the muscles directly involved in the temporomandibular joint biomechanics of patients with myofascial TMDs.

The diagnosis of HD is clarified thanks to the impulse of Genetics, and its approach from the cost-efficient scenario of the preventive strategy through PGT supports the economic sustainability of PHS. All this should be better known by health professionals.