Reply to “Association of Serum Uric Acid Concentration With Metabolic Risk Factors in Patients With Type 2 Diabetes”

In our subsample of diabetic patients, serum UA was associated with other features of the metabolic syndrome and with signs of target organ damage in a similar way to that observed in the whole population of elderly, mostly obese, Neapolitan patients. However, on the basis of the different actions of UA described in the literature, it is theoretically conceivable that in select cases, as in the lean, male diabetics observed by Yanai and Hirowatari, UA might exert a protective role

Primer registro del nido de abeja fósil Elipsoideichnus meyeri de Argentina (Colón, provincia de Entre Ríos)

Se presenta el primer registro de la traza fósil Elipsoideichnus meyeri Roselli, 1987, de afloramientos de la cantera Prefectura Naval Argentina, Parque Nacional El Palmar, Colón (provincia de Entre Ríos), Argentina. E. meyeri consiste en un nido de abeja fósil helicoidal, hasta la fecha solo registrado en la Formación Asencio (Cuenca Norte) del suroeste de Uruguay. El nuevo espécimen fue encontrado en rocas tradicionalmente asignadas a la Formación Puerto Yeruá (Cuenca Chaco Paraná), consideradas del Cretácico Superior sobre la base del contenido paleontológico de estratos correlativos en el área, conformado por restos de dinosaurios y plantas. Sin embargo, el marco estratigráfico más confiable para la localidad de estudio debería mantener los nombres litoestratigráficos de la Cuenca Norte de Uruguay, siendo el principal argumento para la presencia de una discordancia regional entre las formaciones Guichón y Mercedes, lo que imposibilita la asignación de este nuevo registro a la Formación Puerto Yeruá. Las facies observadas y este nuevo registro en sí permitieron la asignación preliminar de los estratos portadores de E. meyeri de la Prefectura Naval Argentina a la Formación Asencio, reforzado por el registro que aquí se presenta ya que no existe evidencia tafonómica que apoye un transporte significativo horizontal o vertical del mismo. Sobre la asignación cronoestratigráfica de este registro, no existen elementos concluyentes para ubicarlo dentro del Cretácico Superior o Eoceno, siendo un hecho aún en análisis. Este registro amplía la distribución geográfica de este icnotaxón, permitiendo el desarrollo de nuevas investigaciones en el área, reabriendo interrogantes relacionados con la paleobiología y la cronoestratigrafía de abejas antiguas en esta zona del sur de América del Sur.We present the first record of the trace fossil Elipsoideichnus meyeri Roselli, 1987, from outcrops of the Prefectura Naval Argentina quarry, Parque Nacional El Palmar, Colón (Entre Ríos province), Argentina. E. meyeri consists of a singular helicoidal fossil bee nest, to date only recorded from the Asencio Formation (Norte Basin) of southwestern Uruguay. The new specimen came from rocks traditionally assigned to the Puerto Yeruá Formation (Chaco Paraná Basin), considered Upper Cretaceous in age based on paleontological content of correlative strata in the area, composed of dinosaur and plant remains. However, the most reliable stratigraphic framework for the studied locality should keep the lithostratigraphic names of the Norte Basin of Uruguay, being the main argument for the presence of a regional unconformity between Guichón and Mercedes formations, which precludes the assignment of this new record to the Puerto Yeruá Formation. Observed facies and this new record itself allowed the preliminary assignation of Prefectura Naval Argentina E. meyeri-hosting strata to the Asencio Formation, which is reinforced by the record presented here itself due to there are no taphonomic evidence supporting significant transport horizontally or vertically. About the chronostratigraphic assignment of this record, there are no concluding elements to locate it within the Upper Cretaceous or Eocene, being a matter of fact and still in flux. This record expands the geographical distribution of this ichnotaxon, allowing the development of further research in this area and, re-opening questions related to the palaeobiology and chronostratigraphy of ancient bees in this area of southern South America.Fil: Cónsole Gonella, Carlos Alfredo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán. Instituto Superior de Correlación Geológica. Universidad Nacional de Tucumán. Facultad de Ciencias Naturales e Instituto Miguel Lillo. Departamento de Geología. Cátedra Geología Estructural. Instituto Superior de Correlación Geológica; ArgentinaFil: Verde, Mariano. Universidad de la República; UruguayFil: de Valais, Silvina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Patagonia Norte. Instituto de Investigación en Paleobiología y Geología; ArgentinaFil: Apesteguía, Sebastián. Fundación de Historia Natural Félix de Azara; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Díaz Martínez, Ignacio. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Patagonia Norte. Instituto de Investigación en Paleobiología y Geología; ArgentinaFil: Gallina, Pablo Ariel. Universidad Maimónides; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Gianechini, Federico Abel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - San Luis. Instituto Multidisciplinario de Investigaciones Biológicas de San Luis. Universidad Nacional de San Luis. Facultad de Ciencias Físico Matemáticas y Naturales. Instituto Multidisciplinario de Investigaciones Biológicas de San Luis; ArgentinaFil: Citton, Paolo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Patagonia Norte. Instituto de Investigación en Paleobiología y Geología; ArgentinaFil: Aceñolaza, Florencio Gilberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán. Instituto Superior de Correlación Geológica. Universidad Nacional de Tucumán. Facultad de Ciencias Naturales e Instituto Miguel Lillo. Departamento de Geología. Cátedra Geología Estructural. Instituto Superior de Correlación Geológica; Argentin

Epileptic Capgras-Like Delusions in a Patient with Right Frontal Meningioma: Case Report

Capgras syndrome is a condition characterized by the belief that a relative has been replaced by an almost identical imposter. The disorder has been reported in several neurological diseases. We describe the uncommon case of a transient Capgras syndrome manifesting as focal temporal seizures in a woman with a right frontal meningioma. Our patient represents an exceptional case of Capgras syndrome for several reasons, namely, the association with meningioma, very rarely reported before, the transient manifestation of symptoms, and, most importantly, the epileptic etiology of reduplicative paramnesias. Lastly, our report also confirms the importance of frontal and right hemisphere dysfunction in generating Capgras syndrome-like delusions

Advancing Italian Biomedical Information Extraction with Large Language Models: Methodological Insights and Multicenter Practical Application

The introduction of computerized medical records in hospitals has reduced burdensome operations like manual writing and information fetching. However, the data contained in medical records are still far underutilized, primarily because extracting them from unstructured textual medical records takes time and effort. Information Extraction, a subfield of Natural Language Processing, can help clinical practitioners overcome this limitation, using automated text-mining pipelines. In this work, we created the first Italian neuropsychiatric Named Entity Recognition dataset, PsyNIT, and used it to develop a Large Language Model for this task. Moreover, we conducted several experiments with three external independent datasets to implement an effective multicenter model, with overall F1-score 84.77%, Precision 83.16%, Recall 86.44%. The lessons learned are: (i) the crucial role of a consistent annotation process and (ii) a fine-tuning strategy that combines classical methods with a "few-shot" approach. This allowed us to establish methodological guidelines that pave the way for future implementations in this field and allow Italian hospitals to tap into important research opportunities

The impact of upper motor neuron involvement on clinical features, disease progression and prognosis in amyotrophic lateral sclerosis

ObjectivesIn amyotrophic lateral sclerosis (ALS) both upper (UMNs) and lower motor neurons (LMNs) are involved in the process of neurodegeneration, accounting for the great disease heterogeneity. We evaluated the associations of the burden of UMN impairment, assessed through the Penn Upper Motor Neuron Score (PUMNS), with demographic and clinical features of ALS patients to define the independent role of UMN involvement in generating disease heterogeneity, predicting disease progression and prognosis.MethodsWe collected the following clinical parameters on a cohort of 875 ALS patients: age and site of onset, survival, MRC scale, lower motor neuron score (LMNS), PUMNS, ALSFRS-R, change in ALSFRS-R over time (DFS), MITOS and King’s staging systems (KSS). Transcranial magnetic stimulation was performed on a subgroup of patients and central motor conduction time (CMCT) and cortical silent period (CSP) were calculated.ResultsWe observed that patients with an earlier age at onset and bulbar onset had higher PUMNS values. Higher values were also associated to lower ALSFRS-R and to higher DFS scores, as well as to higher MITOS and KSS, indicating that a greater UMN burden correlates with disease severity. Conversely, we did not appreciate any association between UMN involvement and survival or markers of LMN impairment. Moreover, PUMNS values showed a positive association with CMCT and a negative one with CSP values.InterpretationOur results suggest that the burden of UMN pathology, assessed through PUMNS, has an important independent role in defining clinical characteristics, functional disability, disease progression and prognosis in ALS patients. We also support the role of TMS in defining severity of UMN involvement

An exploratory study on counterfactual thinking in amyotrophic lateral sclerosis

ObjectivesThis study aimed at exploring (1) the motor and non-motor correlates of counterfactual thinking (CFT) abilities in non-demented amyotrophic lateral sclerosis (ALS) patients and (2) the ability of CFT measures to discriminate these patients from healthy controls (HCs) and patients with and without cognitive impairment.MethodsN = 110 ALS patients and N = 51 HCs were administered two CFT tasks, whose sum, resulting in a CFT Index (CFTI), was addressed as the outcome. Patients further underwent an in-depth cognitive, behavioral, and motor-functional evaluation. Correlational analyses were run to explore the correlates of the CFTI in patients. Logistic regressions were performed to test whether the CFTI could discriminate patients from HCs.ResultsThe CFTI was selectively associated (p ≤ 0.005) with fluency and memory subscales of the Edinburgh Cognitive and Behavioral ALS Screen (ECAS), but not with other variables. CFTI scores discriminated patients from HCs (p < 0.001) with high accuracy (82%), but not patients with a normal vs. defective performance on the ECAS-Total.ConclusionCFT measures in non-demented ALS patients were associated with verbal fluency and memory functions, and they were also able to discriminate them from HCs

PRISM (Polarized Radiation Imaging and Spectroscopy Mission): A White Paper on the Ultimate Polarimetric Spectro-Imaging of the Microwave and Far-Infrared Sky

PRISM (Polarized Radiation Imaging and Spectroscopy Mission) was proposed to ESA in response to the Call for White Papers for the definition of the L2 and L3 Missions in the ESA Science Programme. PRISM would have two instruments: (1) an imager with a 3.5m mirror (cooled to 4K for high performance in the far-infrared---that is, in the Wien part of the CMB blackbody spectrum), and (2) an Fourier Transform Spectrometer (FTS) somewhat like the COBE FIRAS instrument but over three orders of magnitude more sensitive. Highlights of the new science (beyond the obvious target of B-modes from gravity waves generated during inflation) made possible by these two instruments working in tandem include: (1) the ultimate galaxy cluster survey gathering 10e6 clusters extending to large redshift and measuring their peculiar velocities and temperatures (through the kSZ effect and relativistic corrections to the classic y-distortion spectrum, respectively) (2) a detailed investigation into the nature of the cosmic infrared background (CIB) consisting of at present unresolved dusty high-z galaxies, where most of the star formation in the universe took place, (3) searching for distortions from the perfect CMB blackbody spectrum, which will probe a large number of otherwise inaccessible effects (e.g., energy release through decaying dark matter, the primordial power spectrum on very small scales where measurements today are impossible due to erasure from Silk damping and contamination from non-linear cascading of power from larger length scales). These are but a few of the highlights of the new science that will be made possible with PRISM.Comment: 20 pages Late

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a new screening strategy, we performed gene-burden analyses trained with established ALS genes and identified a significant association between loss-of-function (LOF) NEK1 variants and FALS risk. Independently, autozygosity mapping for an isolated community in the Netherlands identified a NEK1 p.Arg261His variant as a candidate risk factor. Replication analyses of sporadic ALS (SALS) cases and independent control cohorts confirmed significant disease association for both p.Arg261His (10,589 samples analyzed) and NEK1 LOF variants (3,362 samples analyzed). In total, we observed NEK1 risk variants in nearly 3% of ALS cases. NEK1 has been linked to several cellular functions, including cilia formation, DNA-damage response, microtubule stability, neuronal morphology and axonal polarity. Our results provide new and important insights into ALS etiopathogenesis and genetic etiology