Stepwise Functional Brain Architecture Correlates with Atrophy in Progressive Supranuclear Palsy.

BACKGROUND: Stepwise functional connectivity (SFC) detects whole-brain functional couplings of a selected region of interest at increasing link-step topological distances. OBJECTIVE: This study applied SFC to test the hypothesis that stepwise architecture propagating from the disease epicenter would shape patterns of brain atrophy in patients with progressive supranuclear palsy-Richardson's syndrome (PSP-RS). METHODS: Thirty-six patients with PSP-RS and 44 age-matched healthy control subjects underwent brain magnetic resonance imaging on a 3-T scanner. The disease epicenter was defined as the peak of atrophy observed in an independent cohort of 13 cases with postmortem confirmation of PSP pathology and used as seed region for SFC analysis. First, we explored SFC rearrangements in patients with PSP-RS, as compared with age-matched control subjects. Subsequently, we tested SFC architecture propagating from the disease epicenter as a determinant of brain atrophy distribution. RESULTS: The disease epicenter was identified in the left midbrain tegmental region. Compared with age-matched control subjects, patients with PSP-RS showed progressively widespread decreased SFC of the midbrain with striatal and cerebellar regions through direct connections and sensorimotor cortical regions through indirect connections. A correlation was found between average link-step distance from the left midbrain in healthy subjects and brain volumes in patients with PSP-RS (r = 0.38, P < 0.001). CONCLUSIONS: This study provides comprehensive insights into the topology of functional network rearrangements in PSP-RS and demonstrates that the brain architectural topology, as described by SFC propagating from the disease epicenter, shapes the pattern of atrophic changes in PSP-RS. Our findings support the view of a network-based pathology propagation in this primary tauopathy. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Factors associated with vasoplegic shock in the postoperative period of cardiac surgery and influence on morbidity and mortality of the use of arginine vasopressin as rescue therapy.

OBJECTIVES: Analyzing associated factors with vasoplegic shock in the postoperative period of Cardiac Surgery. Analyzing the influence of vasopressin as rescue therapy to first-line treatment with norepinephrine. DESIGN: Cohort, prospective and observational study. SETTING: Main hospital Postoperative Cardiac ICU. PATIENTS: Patients undergoing cardiac surgery with subsequent ICU admission from January 2021 to December 2022. INTERVENTIONS: Record of presurgical, perioperative and ICU discharge clinical variables. MAIN VARIABLES OF INTEREST: chronic treatment, presence of vasoplegic shock, need for vasopressin, cardiopulmonary bypass time, mortality. RESULTS: 773 patients met the inclusion criteria. The average age was 67.3, with predominance of males (65.7%). Post-CPB vasoplegia was documented in 94 patients (12.2%). In multivariate analysis, vasoplegia was associated with age, female sex, presurgical creatinine levels, cardiopulmonary bypass time, lactate level upon admission to the ICU, and need for prothrombin complex transfusion. Of the patients who developed vasoplegia, 18 (19%) required rescue vasopressin, associated with pre-surgical intake of ACEIs/ARBs, worse Euroscore score and longer cardiopulmonary bypass time. Refractory vasoplegia with vasopressin requirement was associated with increased morbidity and mortality. CONCLUSIONS: Postcardiopulmonary bypass vasoplegia is associated with increased mortality and morbidity. Shortening cardiopulmonary bypass times and minimizing products blood transfusion could reduce its development. Removing ACEIs and ARBs prior to surgery could reduce the incidence of refractory vasoplegia requiring rescue with vasopressin. The first-line treatment is norepinephrine and rescue treatment with VSP is a good choice in refractory situations. The first-line treatment of this syndrome is norepinephrine, although rescue with vasopressin is a good complement in refractory situations.

Dissecting the Clinical Heterogeneity and Genotype-Phenotype Correlations of MAPT Mutations: A Systematic Review.

BACKGROUND: Microtubule-associated protein tau (MAPT) mutations are one of the main causes of genetic Frontotemporal dementia (FTD) and are characterised by high clinical heterogeneity. A behavioural variant of FTD is the principal phenotype, but other rarer phenotypes are described, mostly reported as single cases. In this review, we provide an overview of the clinical phenotypes associated with MAPT mutations in order to define their characteristics and explore genotype-phenotype correlations. METHODS: We performed systematic bibliographic research on the Pubmed database, focusing on articles published between 1998 and 2022. We analysed the clinical phenotype of 177 patients carrying MAPT mutations, focusing on the rarest ones. We performed a narrative synthesis of the results. RESULTS: Regarding language phenotypes, the most frequent were the non-fluent variant and the semantic variant of Primary Progressive Aphasia (nfvPPA, svPPA), approximately in the same proportion. Almost 20% of the whole group of patients present a clinical phenotype belonging to the corticobasal syndrome-progressive supranuclear palsy (CBS-PSP) spectrum. While no clear genotype-phenotype correlation could be identified, some mutations were associated with a specific phenotype, while others gave origin to multiple clinical pictures and mixed phenotypes. CONCLUSIONS: A high clinical heterogeneity exists in FTD associated with MAPT mutations without a clear phenotype-genotype correlation in most cases. However, some characteristics can be helpful to drive genetic testing. Deep phenotyping of patients, together with functional studies of single mutations, particularly those associated with atypical phenotypes, are necessary to better understand the biological mechanisms underlying this clinical variability.

Validation of Indirect Calorimetry in Children Undergoing Single-Limb Non-Invasive Ventilation: A Proof of Concept, Cross-Over Study.

BACKGROUND: The accurate assessment of resting energy expenditure (REE) is essential for personalized nutrition, particularly in critically ill children. Indirect calorimetry (IC) is the gold standard for measuring REE. This methodology is based on the measurement of oxygen consumption (VO2) and carbon dioxide production (VCO2). These parameters are integrated into the Weir equation to calculate REE. Additionally, IC facilitates the determination of the respiratory quotient (RQ), offering valuable insights into a patient's carbohydrate and lipid consumption. IC validation is limited to spontaneously breathing and mechanically ventilated patients, but it is not validated in patients undergoing non-invasive ventilation (NIV). This study investigates the application of IC during NIV-CPAP (continuous positive airway pressure) and NIV-PS (pressure support). METHODS: This study was conducted in the Pediatric Intensive Care Unit of IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, between 2019 and 2021. Children < 6 years weaning from NIV were enrolled. IC was performed during spontaneous breathing (SB), NIV-CPAP, and NIV-PS in each patient. A Bland-Altman analysis was employed to compare REE, VO2, VCO2, and RQ measured by IC. RESULTS: Fourteen patients (median age 7 (4; 18) months, median weight 7.7 (5.5; 9.7) kg) were enrolled. The REE, VO2, VCO2, and RQ did not differ significantly between the groups. The Limits of Agreement (LoA) and bias of REE indicated good agreement between SB and NIV-CPAP (LoA +28.2, -19.4 kcal/kg/day; bias +4.4 kcal/kg/day), and between SB and NIV-PS (LoA -22.2, +23.1 kcal/kg/day; bias 0.4 kcal/kg/day). CONCLUSIONS: These preliminary findings support the accuracy of IC in children undergoing NIV. Further validation in a larger cohort is warranted.

Clinical and neuroanatomical characterization of the semantic behavioral variant of frontotemporal dementia in a multicenter Italian cohort.

BACKGROUND: Semantic behavioral variant frontotemporal dementia (sbvFTD) is a neurodegenerative condition presenting with specific behavioral and semantic derangements and predominant atrophy of the right anterior temporal lobe (ATL). The objective was to evaluate clinical, neuropsychological, neuroimaging, and genetic features of an Italian sbvFTD cohort, defined according to recently proposed guidelines, compared to semantic variant primary progressive aphasia (svPPA) and behavioral variant FTD (bvFTD) patients. METHODS: Fifteen sbvFTD, sixty-three bvFTD, and twenty-five svPPA patients and forty controls were enrolled. Patients underwent clinical, cognitive evaluations, and brain MRI. Symptoms of bvFTD patients between onset and first visit were retrospectively recorded and classified as early and late. Grey matter atrophy was investigated using voxel-based morphometry. RESULTS: sbvFTD experienced early criteria-specific symptoms: world, object and person-specific semantic loss (67%), complex compulsions and rigid thought (60%). Sequentially, more behavioral symptoms emerged (apathy/inertia, loss of empathy) along with non-criteria-specific symptoms (anxiety, suspiciousness). sbvFTD showed sparing of attentive/executive functions, especially compared to bvFTD and better language functions compared to svPPA. All sbvFTD patients failed at the famous face recognition test and more than 80% failed in understanding written metaphors and humor. At MRI, sbvFTD had predominant right ATL atrophy, almost specular to svPPA. Three sbvFTD patients presented pathogenic genetic variants. CONCLUSION: We replicated the application of sbvFTD diagnostic guidelines in an independent Italian cohort, demonstrating that the presence of person-specific semantic knowledge loss and mental rigidity, along with preserved executive functions and a predominant right ATL atrophy with sparing of frontal lobes, should prompt a diagnosis of sbvFTD.

Valoración de la implantación de un programa de disfagia en una unidad de recuperación funcional / Assessment of the implementation of a dysphagia program at the functional recovery unit

Introducción: La disfagia se presenta cuando se produce una dificultad para la preparación o la contención bucal de los alimentos o los líquidos, con o sin dificultad para iniciar con seguridad la deglución o la propulsión del bolo a través de la faringe. Sus principales complicaciones son malnutrición, deshidratación y neumonía. El 80% de los ciudadanos europeos no están diagnosticados ni reciben tratamiento. Objetivos: Conocer las características de los pacientes afectados con disfagia en una unidad de recuperación funcional, y evaluar la educación dada a estos pacientes y a sus cuidadores. Metodología: Estudio descriptivo transversal que tuvo como muestra a pacientes con sospecha de disfagia ingresados entre el período del 1 de febrero de 2019 al 31 de enero de 2020. La valoración se llevó a cabo mediante una revisión previa de la historia clínica, entrevista, exploración detallada y la realización del MECV-V. Tras su confirmación se llevaron a cabo cuidados dietéticos, cuidados bucales, posturales y educativos. Resultados: De los 101 pacientes valorados, un 87,1% presentaron disfagia orofaríngea. Se diagnosticó un 46,59% con disfagia leve, un 39,77% moderada y un 13,64% grave. Un 80,6% fue tratado por la logopeda. La educación realizada a los cuidadores se realizó en un 94,3% de los casos. Se revaluó un 13,6%, y todos presentaron mejoría. Conclusiones: La frecuente presencia de disfagia en pacientes con edad avanzada hace necesaria la implantación de programas para su valoración y tratamiento, con ellos se mejora la calidad asistencial y se previenen importantes complicaciones (AU)

Introduction: Dysphagia presents itself when there is difficulty in the preparation or management of food or liquids, with or without difficulty safely initiating swallowing or propulsion of the bolus through the pharynx. Its main complications are malnutrition, dehydration and pneumonia. 80% of European citizens are not diagnosed nor receive any treatment. Objectives: Understand the characteristics of patients affected with dysphagia in a functional recovery unit, and evaluate the training given to such patients and their care providers. Methodology: Descriptive cross-sectional study showing patients with suspected dysphagia, attended between the period February 1st, 2019and January 31st, 2020. The evaluation was carried out through a previous review of the patient’s medical records, interviews, detailed tests and execution of the MECV-V. Once all information was gathered, adequate dietary, oral, postural and training care were carried out. Results: Of the 101 patients assessed, 87.1% had oropharyngeal dysphagia. 46.59%of those were diagnosed with mild dysphagia, whilst 39.77% were moderate and 13.64% severe. 80.6% were treated by the center’s speech therapist. The training given for care providers was completed in 94.3% of cases. It was re-evaluated for 13.6%, all showing improvement. Conclusions: The frequent presence of dysphagia in elderly patients makes it necessary to implement programs for their evaluation and treatment, which would improve the quality of care and prevent significant complications afterwards (AU)

Prevalencia de enfermedades reumáticas en población adulta en España (estudio EPISER 2016). Objetivos y metodología / Prevalence of rheumatic diseases in adult population in Spain (EPISER 2016 study): Aims and methodology

Objetivos: Describir la metodología del estudio de prevalencia de las enfermedades reumáticas en la población adulta en España, EPISER 2016, así como sus fortalezas y limitaciones. El objetivo del proyecto es estimar la prevalencia de artritis reumatoide (AR), artropatía psoriásica (APs), espondilitis anquilosante (EA), lupus eritematoso sistémico (LES), síndrome de Sjögren (SS), artrosis (de rodilla, cadera, manos, columna cervical y lumbar), fibromialgia, gota y fractura osteoporótica clínica. Material y método: Estudio transversal multicéntrico de base poblacional en el que participan 45 municipios de las 17 comunidades autónomas. La población de referencia está compuesta por adultos de 20 o más años residentes en España. La recogida de información se llevará a cabo mediante encuesta telefónica empleando el sistema Computer Assisted Telephone Interview (CATI). Las sospechas diagnósticas y los diagnósticos autorreferidos serán estudiadas por reumatólogos del hospital de referencia de los municipios seleccionados. Análisis estadístico: se calcularán las prevalencias de enfermedades reumáticas mediante estimadores y sus IC del 95%. Se calcularán factores de ponderación en función de la probabilidad de selección en cada una de las etapas del muestreo. Se tendrá en cuenta la distribución de la población en España según datos del Instituto Nacional de Estadística. Conclusiones: Los cambios sociodemográficos y en hábitos de vida durante los últimos 16 años justifican la realización de EPISER 2016. El estudio ofrecerá datos actualizados de prevalencia en AR, EA, APs, LES, SS, artrosis, fibromialgia, gota y fractura osteoporótica clínica. Los resultados permitirán comparar los datos con estudios de otros países y con el EPISER 2000

Aims: To describe the methodology of the EPISER 2016 (study of the prevalence of rheumatic diseases in adult population in Spain), as well its strengths and limitations. The aim of this study is to estimate the prevalence of rheumatoid arthritis (RA), psoriatic arthritis (PsA), ankylosing spondylitis (AS), systemic lupus erythematosus (SLE), Sjögren's syndrome (SS), osteoarthritis (knee, hip, hands, and cervical and lumbar spine), fibromyalgia, gout and clinical osteoporotic fracture. Material and method: Population-based, multicenter, cross-sectional study, with the participation of 45 municipalities in the 17 Spanish autonomous communities. The reference population will consist of adults aged 20 years and over residing in Spain. A computer-assisted telephone interview (CATI) system will be used for data collection. Diagnostic suspicions and diagnoses received by the participants will be studied by rheumatologists in the referral hospitals in the selected municipalities. Statistical analysis: the prevalence of the rheumatic diseases will be calculated using estimators and their 95% confidence intervals. Weights will be calculated in each of the sampling stages in accordance with the probability of selection. The distribution of the population in Spain will be obtained from the Spanish Statistics Institute. Conclusions: Sociodemographic and lifestyle changes over the last 16 years justify EPISER 2016. This study will provide current data about the prevalences of RA, AS, PsA, SLE, SS, osteoarthritis, fibromyalgia, gout and clinical osteoporotic fracture. The results will allow comparisons with studies from other countries and EPISER 2000

Falange de marfil: un hallazgo específico y poco conocido en artritis psoriásica / Ivory phalanx: a specific and not widely known finding in psoriatic arthritis

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Síndrome de Lemierre en paciente adulto con circulación de Fontan / Lemierre Syndrome in an adult patient with Fontan circulation

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Presentación simultánea de espondilitis anquilosante e hiperostosis esquelética idiopática difusa (enfermedad de Forestier-Rotès-Quérol) / Simultaneous occurrence of ankylosing spondylitis and diffuse idiopathic skeletal hyperostosis (Forestier-Rotès-Quérol disease)

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Respuesta a: Uveítis por bifosfonatos: ¿un raro efecto secundario? / Response to: Uveitis due to bisphosphonates: a rare side effect?

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Artritis reactiva secundaria a la instilación intravesical de bacilo de Calmette-Guérin / Reactive arthritis after the intravesical instillation of BCG

La instilación intravesical de bacilo de Calmette-Guérin (BCG) es un procedimiento ampliamente utilizado y eficaz para el tratamiento del carcinoma vesical superficial de grado intermedio y alto. La aparición de efectos colaterales osteoarticulares es infrecuente comparado con el número de dosis administradas, y dentro de estos se incluye la artritis reactiva. Presentamos el caso de un paciente varón de 54 años, HLA B27 (+), que desarrolló un cuadro de artritis reactiva caracterizado por oligoartritis asimétrica y dactilitis tras la segunda instilación intravesical de BCG, y que se resolvió con el tratamiento con etoricoxib e isoniazida (AU)

The intravesical instilation of bacillus Calmette-Guérin (BCG) is a widely used and efficacious procedure for treatment of intermediate to high-grade superficial bladder cancer. The occurrence of osteoarticular side effects is infrequent compared to the number of administrated doses, and reactive arthritis is included within these effects. We present the case of a 54 years old HLA-27 (+) male, who developed reactive arthritis featuring asymmetric olygoarthritis and dactylitis after the second intravesical BCG instillation, which was resolved with administration of Etoricoxib and Isoniazid (AU)

Prader Willi Syndrome: Saliva quantification and culture in 10 patients

Prader Willi Syndrome (PWS) is a relatively rare neurogenetic illness. It is of interest to dentists for its clinical characteristics.The aim of this study was to evaluate the amount of saliva and the presence of Streptococcus mutans (Smutans) in patients with this syndrome. We measured saliva stimulated by chewing paraffin tablets for 5 minutes, andcultured saliva samples in order to determine the colony-forming units (CFUs) of S mutans. The study was conductedin a group of 10 children with PWS at the Hospital Sant Joan de Déu, Barcelona. Results showed that patients withPWS had lower saliva secretion than considered normal for a standard population and most cultures presented ahigh number of colony-forming units. We conclude that these patients are likely to present caries, and stress the needto place special emphasis on prevention (AU)

Visitas inapropiadas al servicio de urgencias de un hospital general / Inappropiate visits to emergency department of a general hospital

Fundamento: Entre el 20 y el 80 por ciento de las visitas a los servicios de urgencias hospitalarios son inapropiadas. Pacientes y métodos: Se evaluaron las visitas a un servicio de urgencias hospitalarias mediante un Protocolo de Adecuación de Urgencias Hospitalarias, previamente validado. Resultados: El 37,9 por ciento de las visitas fueron inapropiadas y más frecuentes en la población pediátrica. Los pacientes enviados por un médico, con traumatismos o proceso quirúrgico visitaron las urgencias más adecuadamente. Conclusiones: La adecuación de las visitas al servicio de urgencias se relaciona con el tipo de enfermedad. (AU)