The HSACAT Project: A Prospective Multicentre Observational Study of Spontaneous Subarachnoid Haemorrhage in Catalonia (Spain).

BACKGROUND: Incidence, clinical course, and fatality of spontaneous subarachnoid haemorrhage (SAH) are evolving, with prevalence of risk factors diminishing, implementation of early detection programs and strategies for priority aneurysm exclusion, technical refinement towards less invasive procedures, and improvements in neurocritical care. Modern epidemiological and prognostic data are lacking, especially in southern European and Mediterranean populations. METHODS: A prospective multicentre observational study on SAH was held in Catalonia, Northeast Spain, 2020-2022 (HSACat project). All public tertiary hospitals participated in a common registry. Primary endpoints were functional outcomes (modified Rankin Scale, mRS) and mortality at 12-months. Secondary aims included epidemiological data, flux of patients between referral and tertiary hospitals, diagnostic and treatment delays, and in-hospital complications. RESULTS: Of 550 SAH cases reported in Catalonia (2020-2022), 474 had a complete registry for analysis. Death rate was 20.6% during hospital admission and 26.9% at one year. Good functional outcome (mRS 0-2) was observed in 63.4%, 70.1% and 76.0% at 3, 6 and 12 months. Age at presentation was lower in men, smokers, and hypertensives (p<0.05). The female:male ratio was 3:2, except in non-aneurysmal group. Time from onset to tertiary-hospital admission was longer in rural than metropolitan zones (7.0h vs 4.7h, p<0.01). Aneurysm occlusion in the first 72h was achieved in 83.3%; mainly endovascularly (77.5%) than microsurgically (19.3%). CONCLUSION: Even when most patients received timely aneurysmal treatment, rates of case fatality are considerably high. Data provided by the HSAcat project may have public health repercussions and be used to guide prevention programs and screening strategies.

Kinetics and toxicity of nanoplastics in ex vivo exposed human whole blood as a model to understand their impact on human health.

The ubiquitous presence of nanoplastics (NPLs) in the environment is considered of great health concern. Due to their size, NPLs can cross both the intestinal and pulmonary barriers and, consequently, their presence in the blood compartment is expected. Understanding the interactions between NPLs and human blood components is required. In this study, to simulate more adequate real exposure conditions, the whole blood of healthy donors was exposed to five different NPLs: three polystyrene NPLs of approximately 50 nm (aminated PS-NH2, carboxylated PS-COOH, and pristine PS- forms), together with two true-to-life NPLs from polyethylene terephthalate (PET) and polylactic acid (PLA) of about 150 nm. Internalization was determined in white blood cells (WBCs) by confocal microscopy, once the different main cell subtypes (monocytes, polymorphonucleated cells, and lymphocytes) were sorted by flow cytometry. Intracellular reactive oxygen species (iROS) induction was determined in WBCs and cytokine release in plasma. In addition, hemolysis, coagulation, and platelet activation were also determined. Results showed a differential uptake between WBC subtypes, with monocytes showing a higher internalization. Regarding iROS, lymphocytes were those with higher levels, which was observed for different NPLs. Changes in cytokine release were also detected, with higher effects observed after PLA- and PS-NH2-NPL exposure. Hemolysis induction was observed after PS- and PS-COOH-NPL exposure, but no effects on platelet functionality were observed after any of the treatments. To our knowledge, this is the first study comprehensively evaluating the bloodstream kinetics and toxicity of NPL from different polymeric types on human whole blood, considering the role played by the cell subtype and the NPLs physicochemical characteristics in the effects observed after the exposures.

Cancer-Associated Thrombotic Microangiopathy: Literature Review and Report of Five Cases.

Thrombotic microangiopathy (TMA) is an anatomopathological lesion mediated by endothelial dysfunction and characterized by the creation of microthrombi in small vessels. In patients with cancer, it may be due to toxicity secondary to chemotherapy, tumor embolization, or hematopoietic progenitor transplantation. Cancer-associated TMA is an underestimated entity that generally appears in the final stages of the disease, although it may also be the initial manifestation of an underlying cancer. Support treatment is necessary in all cases and, depending on the cause, different targeted therapies may be used. The prognosis is very poor. In this article we present a comprehensive review of the existing literature on the physiological mechanisms of cancer-associated TMA. Afterwards, five clinical cases will be presented of patients who developed TMA and were diagnosed in our Department in 2023. We present a discussion of the different causes that triggered the condition, the possible reasons behind the underestimation of this pathology, and the measures that may be adopted.

Ultrafiltration: Impact of process temperature (7 and 50°C) on process performance and protein beverage physical, chemical, and sensory properties.

Our objectives were to determine the impact of ultrafiltration (UF) of skim milk at 7 and 50°C on UF processing, lactose removal, mineral partitioning, and skim milk retentate physical, chemical, and sensory properties at 3 (3.4 7.5, and 10.5%) protein concentration with 2 different heat processing treatments high temperature short time (HTST) pasteurization and autoclave). Pasteurized skim milk was split into 2 portions and the 7°C UF processing run was done on one day and the 50°C UF processing run was done on the next day. Skim milk was ultrafiltered and diafiltered at 7 and 50°C and as permeate was removed, deionized water at 7 or 50°C was added in an equal amount by weight as permeate removed to maintain constant protein concentration in the retentate during UF until 98% or more of lactose and low molecular weight soluble milk components were removed. All skim milk-based beverage bases from the 7 and 50°C UF of skim milk were HTST (78°C for 15 s) processed or autoclaved (116°C for 6 min). The physical, chemical, and sensory properties of all treatments were measured. This process was replicated twice with a new batch of pasteurized skim milk in a different week with the 7 and 50°C UF processing runs ran in reverse order. Overall, lactose-free skim milk at 3.4, 7.5, and 10.5% protein produced by UF with DF, was more bland, more white and less heat stable (i.e., stable to retorting but not direct steam injection at 142°C for 2 to 3 s) than skim milk based on both sensory scores and instrumental measures. A 98 to 99% removal of lactose from skim milk was achieved (final lactose concentration <0.06 g/100g) with a diafiltration ratio of water to milk of about 4 to 1 was used at both 7°C and 50°C. The processing time to achieve that lactose removal from the same starting weight of milk was about twice as long when filtering at 7°C than 50°C because of the lower flux (23 versus 48 kg/m2/h). The continuous DF at constant protein concentration maintained constant flux for a processing time of 4 and 8 h at 50 and 7°C, respectively. The final freezing point of the lactose and soluble mineral reduced milk was close to that of water (-0.015°C versus -0.525°C for skim milk) and the pH of the lactose-free milk at 20°C increased from about 6.5 for skim to about 7.33 and 7.46 for UF/DF skim milk at 7 and 50°C, respectively. Removal of compounds that absorb light (in the range of 360 to 500 nm) from milk in the permeate, increased light reflectance and whiteness and decreased yellowness relative to the starting skim milk.

Impact of hormone receptor status and tumor subtypes of breast cancer in young BRCA carriers.

BACKGROUND: Hormone receptor expression is a known positive prognostic and predictive factor in breast cancer; however, limited evidence exists on its prognostic impact on prognosis of young patients harboring a pathogenic variant (PV) in the BRCA1 and/or BRCA2 genes. PATIENTS AND METHODS: This international, multicenter, retrospective cohort study included young patients (aged ≤40 years) diagnosed with invasive breast cancer and harboring germline PVs in BRCA genes. We investigated the impact of hormone receptor status on clinical behavior and outcomes of breast cancer. Outcomes of interest [disease-free survival (DFS), breast cancer-specific survival (BCSS), and overall survival (OS)] were first investigated according to hormone receptor expression (positive versus negative), and then according to breast cancer subtype [luminal A-like versus luminal B-like versus triple-negative versus human epidermal growth factor receptor 2 (HER2)-positive breast cancer]. RESULTS: From 78 centers worldwide, 4709 BRCA carriers were included, of whom 2143 (45.5%) had hormone receptor-positive and 2566 (54.5%) hormone receptor-negative breast cancer. Median follow-up was 7.9 years. The rate of distant recurrences was higher in patients with hormone receptor-positive disease (13.1% versus 9.6%, P < 0.001), while the rate of second primary breast cancer was lower (9.1% versus 14.7%, P < 0.001) compared to patients with hormone receptor-negative disease. The 8-year DFS was 65.8% and 63.4% in patients with hormone receptor-positive and negative disease, respectively. The hazard ratio of hormone receptor-positive versus negative disease changed over time for DFS, BCSS, and OS (P < 0.05 for interaction of hormone receptor status and survival time). Patients with luminal A-like breast cancer had the worst long-term prognosis in terms of DFS compared to all the other subgroups (8-year DFS: 60.8% in luminal A-like versus 63.5% in triple-negative versus 65.5% in HER2-positive and 69.7% in luminal B-like subtype). CONCLUSIONS: In young BRCA carriers, differences in recurrence pattern and second primary breast cancer among hormone receptor-positive versus negative disease warrant consideration in counseling patients on treatment, follow-up, and risk-reducing surgery.

KIBRA anchoring the action of PKMζ maintains the persistence of memory.

How can short-lived molecules selectively maintain the potentiation of activated synapses to sustain long-term memory? Here, we find kidney and brain expressed adaptor protein (KIBRA), a postsynaptic scaffolding protein genetically linked to human memory performance, complexes with protein kinase Mzeta (PKMζ), anchoring the kinase's potentiating action to maintain late-phase long-term potentiation (late-LTP) at activated synapses. Two structurally distinct antagonists of KIBRA-PKMζ dimerization disrupt established late-LTP and long-term spatial memory, yet neither measurably affects basal synaptic transmission. Neither antagonist affects PKMζ-independent LTP or memory that are maintained by compensating PKCs in ζ-knockout mice; thus, both agents require PKMζ for their effect. KIBRA-PKMζ complexes maintain 1-month-old memory despite PKMζ turnover. Therefore, it is not PKMζ alone, nor KIBRA alone, but the continual interaction between the two that maintains late-LTP and long-term memory.

[Neuropsychological profile of Mexican paediatric patients with pharmacoresistant focal epilepsy]. / Perfil neuropsicológico de pacientes pediátricos mexicanos con epilepsia focal farmacorresistente.

INTRODUCTION: At least 20% of paediatric patients with epilepsy present resistance to multiple anti-crisis drugs in trials, which has a negative impact on their neuropsychological state, quality of life and prognosis; it is therefore necessary to document their neuropsychological profile in order to improve the clinical approach to them. AIMS: To describe the neuropsychological profile (cognitive, academic, behavioural, emotional, adaptive, sleep disturbances and quality of life) of paediatric patients with drug-resistant focal epilepsy in the frontal, temporal and occipital lobes, and to compare performance between patients with frontal and temporal foci, and to assess the link between the duration of the condition, the frequency of seizures and the amount of anti-crisis drugs and the neuropsychological profile. PATIENTS AND METHODS: The neuropsychological profile of 19 paediatric patients with a diagnosis of pharmacoresistant epilepsy with a mean age of 10.89 years was evaluated. RESULTS: 57.9% of the 19 patients were men. 63.2% presented frontal focus; 26.3% presented temporal focus; and 10.5% presented occipital focus. Deficiencies in attention, comprehension, verbal memory, working memory and processing speed, in addition to adaptive difficulties were observed. When the patients with frontal and temporal focus were compared, the former were found to present greater deficits in planning, while the patients with temporal focus presented more severe symptoms of anxiety. Patients with a longer disease duration were found to present greater impairment to their intelligence quotient and adaptive behavioural skills. CONCLUSIONS: Pharmacoresistant epilepsy in paediatric patients affects intelligence quotient and adaptive skills, as well as attention, memory and executive functions, and neuropsychological intervention programmes must therefore be implemented to improve these patients' quality of life.

TITLE: Perfil neuropsicológico de pacientes pediátricos mexicanos con epilepsia focal farmacorresistente.Introducción. Al menos el 20% de los pacientes pediátricos con epilepsia muestra resistencia a los ensayos de múltiples fármacos anticrisis, que impactan negativamente en su estado neuropsicológico, calidad de vida y pronóstico; por tal motivo, es necesario documentar ampliamente su perfil neuropsicológico para mejorar su abordaje clínico. Objetivos. Describir el perfil neuropsicológico (cognitivo, académico, conductual, emocional, adaptativo, alteraciones del sueño y calidad de vida) de pacientes pediátricos con epilepsia focal farmacorresistente de los lóbulos frontal, temporal y occipital, así como comparar el desempeño entre los pacientes con foco frontal y temporal, y evaluar la asociación entre la duración del padecimiento, la frecuencia de las crisis y la cantidad de fármacos anticrisis con el perfil neuropsicológico. Pacientes y métodos. Se evaluó el perfil neuropsicológico de 19 pacientes pediátricos con diagnóstico de epilepsia farmacorresistente, con una edad promedio de 10,89 años. Resultados. De los 19 pacientes, el 57,9% fueron hombres. El 63,2% presentó foco frontal; el 26,3%, temporal; y el 10,5%, occipital. Se encontraron deficiencias en atención, comprensión, memoria verbal, memoria de trabajo y velocidad de procesamiento, además de dificultades adaptativas. Al comparar a los pacientes con foco frontal y temporal, se encontró que los primeros presentaron mayores deficiencias en planificación, mientras que los pacientes con foco temporal presentaron mayores síntomas de ansiedad. Con respecto a la duración de la enfermedad, se encontró que los pacientes con mayor duración del padecimiento presentaron mayor afectación en el cociente intelectual y en las habilidades en la conducta adaptativa. Conclusiones. La epilepsia farmacorresistente en pacientes pediátricos afecta el cociente intelectual y las habilidades adaptativas, así como a la atención, la memoria y las funciones ejecutivas, por lo que es necesaria la implementación de programas de intervención neuropsicológica para mejorar la calidad de vida de estos pacientes.

Uric acid and acute kidney injury in high-risk patients for developing acute kidney injury undergoing cardiac surgery: A prospective multicenter study.

PURPOSE: It is unclear whether preoperative serum uric acid (SUA) elevation may play a role in the development of acute kidney injury (AKI) associated with cardiac surgery (CSA-AKI). We conducted a cohort study to evaluate the influence of preoperative hyperuricemia on AKI in patients at high risk for developing SC-AKI. DESIGN: Multicenter prospective international cohort study. SETTING: Fourteen university hospitals in Spain and the United Kingdom. PARTICIPANTS: We studied 261 consecutive patients at high risk of developing CSA-AKI, according to a Cleveland score ≥ 4 points, from July to December 2017. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: AKIN criteria were used for the definition of AKI. Multivariable logistic regression models and propensity score-matched pairwise analysis were used to determine the adjusted association between preoperative hyperuricemia (≥7 mg/dL) and AKI. Elevated preoperative AUS (≥7 mg/dL) was present in 190 patients (72.8%), whereas CSA-AKI occurred in 145 patients (55.5%). In multivariable logistic regression models, hyperuricemia was not associated with a significantly increased risk of AKI (adjusted Odds Ratio [OR]: 1.58; 95% confidence interval [CI]: 0.81-3; P = .17). In propensity score-matched analysis of 140 patients, the hyperuricemia group experienced similar adjusted odds of AKI (OR 1.05, 95%CI 0.93-1.19, P = .37). CONCLUSIONS: Hyperuricemia was not associated with an increased risk of AKI in this cohort of patients undergoing cardiac surgery at high risk of developing CSA-AKI.

Comparison of dehydration systems in quality and chemical effects on sunflower seeds.

The present work investigates the quality and the chemical effects of dehydration, using a novel dehydration system based on an electromagnetic induction and low pressures technique, comparing it with the thermo-solar drying system. High oleic sunflower seeds, which are an important oil seed crop, were used due to the fact that they have a special place in the food industry. The seed samples were exposed to electromagnetic induction and low pressures by 0.5 and 1 h, then several chemical characterizations were carried out, in the electrophoresis study, it was found that most proteins in the hull were degraded or denatured, some of them were lost during the time in the thermosolar dryer while in kernel keeps 94.9% of the concentration in control proteins. Otherwise, the electromagnetic induction dryer did not lose the most of proteins in the kernel keeping 99.1% in 0.5 h and 98.4% in 1 h, just degrading its concentration. Germination viability results did not show changes after 0.5 h in the electromagnetic fields, but they decreased in 1 h from 66 to 40% until the thermosolar method fell to 24% in 4 h, both analysis results change proportionally with the treatment time and moisture content and the amount of the oxygen.

Diorganotin (IV) amino acid complexes as potential anticancer agents. Synthesis, structural characterization, and in vitro assays.

Nine new organotin (IV) derivatives from L-amino acids (l-lysine, L-ornithine, L-glutamic acid, and L-aspartic acid) were synthesized by one-pot ultrasound-assisted methodology. All compounds were characterized by ATR-FTIR (Attenuated Total Reflectance-Fourier Transform Infrared), LRMS (Low-Resolution Mass Spectrometry), and solution NMR (1H, 13C, 119Sn Nuclear Magnetic Resonance) spectroscopies. Complexes Bu2Sn(Lys) (1), Ph2Sn(Lys) (2), Bu2Sn(Orn) (3), and Ph2Sn (Glu-OMe) (6a) were crystallized, and the structures were established by single-crystal X-ray diffraction analysis. Diffraction results evidenced that complexes 1 to 3 were five-coordinated mononuclear species while the phenyl substituted derivative Ph2Sn (Glu-OMe) (6a) forms a polymeric network via Sn-O-Sn bridging whereby the tin atom is six-coordinated. In turn, 119Sn NMR results revealed that all tin complexes exist as mononuclear penta-coordinated species in solution. The tin derivatives were screened for ADME (Adsorption, Distribution, Metabolism, and Excretion) properties via the freely available tools SWISS ADME, and the results were analyzed hereafter. The antiproliferative activity of the complexes was tested against three human cancer cell lines: colorectal adenocarcinoma HT-29, breast adenocarcinoma MDA-MB-231, and chondrosarcoma SW-1353 using a non-tumoral cell line of human osteoblast as control, demonstrating selective inhibitory activities against cancer cells. Hence, these compounds could be a promising alternative to classical chemotherapy agents.

Approach and management of patients injured by bullfighting trauma. / Abordaje y manejo médico-quirúrgico del paciente herido por traumatismo taurino.

INTRODUCTION: Bullfighting festivals are attributed to the cultural idiosyncrasies of the Ibero-American people, posing an extreme risk to the physical integrity of the participants. Spain is considered the country with the highest number of bull-related celebrations worldwide and, therefore, with the highest number of patients injured by bullfighting trauma treated, thus justifying a public health problem. The generalities associated with this type of trauma define the people injured as polytraumatised patients. In addition, it is important to know the kinematics of the injuries and their specific characteristics, in order to implement quality medical-surgical care. METHODS: scientific review of the literature to promote a comprehensive guide for the medical-surgical management of patients injured by bullfighting trauma. RESULTS: We described the guidelines to standardise protocols for in-hospital approach of patients injured by bullfighting trauma. CONCLUSIONS: Bullfighting trauma is considered a real health problem in the emergency departments of the ibero-Americans countries, especially in Spain, where bullfighting is part of the national culture. The inherent characteristics of these animals cause injuries with special aspects, so it is important to know the generalities of bullfighting trauma. Because of the multidisciplinary approach, this guidelines are adressed to all healthcare providers involved in the management of these patients. It is essential to establish particular initial care for this type of injury, specific therapeutic action and follow-up based on the medical-surgical management of the trauma patient in order to reduce the associated morbidity and mortality.

Estimation of differential pathlength factor from NIRS measurement in skeletal muscle.

The utilization of continuous wave (CW) near-infrared spectroscopy (NIRS) device to measure non-invasively muscle oxygenation in healthy and disease states is limited by the uncertainties related to the differential path length factor (DPF). DPF value is required to quantify oxygenated and deoxygenated heme groups' concentration changes from measurement of optical densities by NIRS. An integrated approach that combines animal and computational models of oxygen transport and utilization was used to estimate the DPF value in situ. The canine model of muscle oxidative metabolism allowed measurement of both venous oxygen content and tissue oxygenation by CW NIRS under different oxygen delivery conditions. The experimental data obtained from the animal model were integrated in a computational model of O2 transport and utilization and combined with Beer-Lambert law to estimate DPF value in contracting skeletal muscle. A 2.1 value was found for DPF by fitting the mathematical model to the experimental data obtained in contracting muscle (T3) (Med.Sci.Sports.Exerc.48(10):2013-2020,2016). With the estimated value of DPF, model simulations well predicted the optical density measured by NIRS on the same animal model but with different blood flow, arterial oxygen contents and contraction rate (J.Appl.Physiol.108:1169-1176, 2010 and 112:9-19,2013) and demonstrated the robustness of the approach proposed in estimating DPF value. The approach used can overcome the semi-quantitative nature of the NIRS and estimate non-invasively DPF to obtain an accurate concentration change of oxygenated and deoxygenated hemo groups by CW NIRS measurements in contracting skeletal muscle under different oxygen delivery and contraction rate.

Validación de la versión española de la escala de Harris modificada / Validation of the Spanish version of the modified Harris score

Antecedentes y objetivos: La escala de Harris modificada (EHM) es una de las herramientas más utilizadas para valorar pacientes con patología de cadera. A pesar de contar con una adaptación transcultural al español realizada por Lara et al., no cuenta con estudios que sustenten su validez. Se pretende obtener una validación de la versión adaptada de la EHM (ES-EHM), comparándola con la escala WOMAC. Materiales y métodos: La ES-EHM se aplicó a 100 pacientes operados de prótesis total de cadera: (1) previamente a la cirugía (ES-EHM prequirúrgica), (2) 2 años tras la cirugía (ES-EHM posquirúrgica) y (3) 6 meses después de la aplicación de la ES-EHM posquirúrgica (ES-EHM final). Se aplicó también, en una ocasión, el cuestionario WOMAC. Se compararon las medias de la ES-EHM prequirúrgica, posquirúrgica y final, así como la totalidad y los parámetros de dolor y función de la ES-EHM con la escala WOMAC. Se obtuvieron parámetros de fiabilidad, validez y sensibilidad al cambio. Resultados: Al comparar la ES-EHM prequirúrgica y la posquirúrgica, se observó una mejoría clínicamente relevante (46,54 puntos). Al comparar la ES-EHM posquirúrgica y la final, no se detectaron diferencias. Se obtuvo una correlación fuerte entre: (1) la ES-EHM posquirúrgica y la ES-EHM final, (2) ES-EHM y WOMAC y (3) parámetros de dolor y función de la ES-EHM y la WOMAC. El índice de respuesta media estandarizada fue de 2,99, la fiabilidad test-retest representada por el coeficiente de correlación intraclase de 0,90 y el índice de consistencia interna alfa de Cronbach de 0,95. Conclusiones: La adaptación transcultural de la ES-EHM muestra ser fiable, válida y sensible al cambio. Por lo tanto, el personal médico de la población española podrá aplicar la ES-EHM con el respaldo científico y la certeza de estar midiendo los parámetros deseados.(AU)

Background and objectives: Modified Harris Hip Score (HHS) is one of the most used scales in the assessment of patients with hip pathology. Although a Spanish cross-cultural adaptation has been recently published, there are many studies supporting its validity yet. Therefore, the aim of this study is to validate the newly adapted Spanish version of the HHS (ES-EHM), comparing it with the WOMAC scale. Materials and methods: The ES-EHM scale was applied to 100 patients who underwent a total hip replacement, in three different situations: (1) prior to surgery (pre-surgical ES-EHM), (2) after surgery, with at least 2 years of follow up (after surgery ES-EHM), and (3) 6 months after the postsurgical registration (final ES-EHM). WOMAC questionnaire was also applied once. We analyzed data of scale main score, pain score, function-related score as well as the mean of pre-surgical, postsurgical and final postsurgical ES-EHM scale, in both the ES-EHM and the WOMAC scales. Parameters of reliability, validity and sensitivity to change were obtained. Results: Clinically relevant improvement was observed (46.55 points) when comparing pre-surgical and post-surgical ES-EHM scores. However, no differences between postsurgical and final ES-EHM were detected. Even so, strong correlation was obtained between the following: (1) postsurgical ES-EHM and final ES-EHM scores, (2) ES-EHM and WOMAC scores, and (3) pain and function-related parameters of ES-EHM and WOMAC scores. Standardized response mean (SRM) was 2.99, test–retest reliability expressed by the intraclass correlation coefficient was 0.90 and Cronbach index 0.95. ConclusionsThe Spanish cross-cultural adaptation of the EHM scale shows to be reliable, valid and sensitive to change. Thus, the Spanish medical staff will be able to apply the ES-EHM scale with good scientific support.(AU)

Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.

INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain. MATERIAL AND METHODS: These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons. RECOMMENDATIONS: The diagnosis of CMT is clinical, with patients usually presenting a common or classical phenotype. Clinical assessment should be followed by an appropriate neurophysiological study; specific recommendations are established for the parameters that should be included. Genetic diagnosis should be approached sequentially; once PMP22 duplication has been ruled out, if appropriate, a next-generation sequencing study should be considered, taking into account the limitations of the available techniques. To date, no pharmacological disease-modifying treatment is available, but symptomatic management, guided by a multidiciplinary team, is important, as is proper rehabilitation and orthopaedic management. The latter should be initiated early to identify and improve the patient's functional deficits, and should include individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transfer. The follow-up of patients with CMT is exclusively clinical, and ancillary testing is not necessary in routine clinical practice.

Objective nasal airflow measures in relation to subjective nasal obstruction, trigeminal function, and olfaction in patients with chronic rhinosinusitis.

BACKGROUND: This study aimed to determine how nasal airflow measures and trigeminal function vary among patients with chronic rhinosinusitis (CRS) versus healthy controls and whether these measures are correlated with subjective nasal obstruction (SNO), olfactory function, and CRS control. METHODOLOGY: Participants included CRS patients and healthy controls. After a structured medical history, nasal airflow (peak nasal inspiratory flow [PNIF]; active anterior rhinomanometry [AAR]), trigeminal function (trigeminal lateralization test, CO2 sensitivity), and olfactory "Sniffin's Sticks" odor identification test) tests were performed. SNO ratings were also obtained. RESULTS: Sixty-nine participants were included (37 men, 32 women, mean age 51 years). There was no significant difference for objective nasal airflow between patients and controls, but CRS patients had worse SNO, trigeminal function, and olfaction compared to controls. SNO, but not objective nasal airflow tests, was negatively correlated with CO2 sensitivity and odor identification. CONCLUSION: The perception of nasal obstruction does not only depend on nasal airflow, but may also be modulated by trigeminal function and other factors. Thus, the role of objective nasal airflow measures as a sole method of functional nasal obstruction assessment in CRS remains limited.

Impact of stimulant treatment on refractive errors and pupil diameter in attention deficit hyperactivity disorder.

PURPOSE: The relationship between attention deficit hyperactivity disorder (ADHD) and visual impairment remains poorly understood, and the impact of visual impairment on the development of ADHD is uncertain. The aim of this study was to investigate the refractive profile and ocular biometric characteristics in patients diagnosed with ADHD and compare them with a control group. Additionally, we aimed to explore the potential influence of sex and medication intake. METHODS: A cohort of 100 participants, including 50 individuals with ADHD and 50 age- and sex-matched control subjects, was included in this study. Ocular biometric parameters were measured, and refractive error was assessed using cycloplegic and non-cycloplegic autorefraction. Subgroup analyses were performed within the ADHD group based on sex, medication intake and age to investigate potential associations with the ocular findings. RESULTS: We observed no statistically significant differences in axial length, corneal topography parameters or anterior chamber characteristics between ADHD and control subjects. However, subgroup analysis within the ADHD group revealed that the prevalence of ametropia under cycloplegia was significantly higher in unmedicated (69.6%) compared to medicated (37.5%) (X2(2) = 7.320, p = 0.026) participants. Pupil diameter was significantly larger in medicated (3.91 mm) compared to unmedicated (3.58 mm; p = 0.017) individuals. Males had flatter (p = 0.004) and thicker (p = 0.008) corneas than females. Older ADHD participants had higher refractive error (p = 0.008 for non-cycloplegic and p = 0.0.003 for cycloplegic), axial length (p = 0.002) and corneal astigmatism (p = 0.049). CONCLUSIONS: Our study provides compelling evidence that individuals diagnosed with ADHD exhibit a similar incidence of refractive errors and ocular parameters compared to normal subjects. Nonetheless, the prevalence of refractive errors appears to be higher in unmedicated ADHD patients, suggesting the potential benefit of stimulant treatment. Additionally, stimulant use is associated with an increase in pupil diameter.

Clinical and Surgical Outcomes of Endoscopic Endonasal Approach for Giant Pituitary Adenomas: Analysis of Predictive Factors.

BACKGROUND: Giant pituitary adenomas (GPAs) are defined as tumors with ≥40 mm in any maximum diameter, and these tend to invade multiple intracranial compartments. Hence, treatment remains a surgical challenge. OBJECTIVE: To describe the clinical and surgical outcomes of the endoscopic endonasal approach (EEA) for GPA in a pituitary referral center in Latin America and to analyze associated predictive factors. METHODS: 37 patients with histologically-confirmed GPA treated solely through the EEA between a 2-year period were included. Preoperative and postoperative clinical and neuroimaging findings; surgical morbidity and mortality; and binary logistic regression analysis to assess predictive factors were analyzed. RESULTS: Preoperative visual impairment prevalence was 97.3%. Mean tumor volume was 32 cc and gross total resection rate was 40.5%. Favorable visual acuity and visual fields outcome rate was 75% and 82.9%, respectively. In the multivariate analysis, bilateral cavernous sinus invasion (P = 0.018) and postoperative cerebrospinal fluid (CSF) leak (P = 0.036) were associated with an unfavorable visual acuity outcome, while radiation therapy (P = 0.035) was for visual fields. Similarly, intraoperative CSF leak was a predictive factor for postoperative CSF leak (10.8%) (P = 0.042) and vascular injury (13.5%) (P = 0.048). CONCLUSIONS: In this first Mexican clinical series, we demonstrated that the EEA is a safe and effective technique for GPA, although early diagnosis and prompt intervention may promote further visual function preservation without significant endocrine morbidity.