Robust identification of interactions between heat-stress responsive genes in the chicken brain using Bayesian networks and augmented expression data.

Bayesian networks represent a useful tool to explore interactions within biological systems. The aims of this study were to identify a reduced number of genes associated with a stress condition in chickens (Gallus gallus) and to unravel their interactions by implementing a Bayesian network approach. Initially, one publicly available dataset (3 control vs. 3 heat-stressed chickens) was used to identify the stress signal, represented by 25 differentially expressed genes (DEGs). The dataset was augmented by looking for the 25 DEGs in other four publicly available databases. Bayesian network algorithms were used to discover the informative relationships between the DEGs. Only ten out of the 25 DEGs displayed interactions. Four of them were Heat Shock Proteins that could be playing a key role, especially under stress conditions, where maintaining the correct functioning of the cell machinery might be crucial. One of the DEGs is an open reading frame whose function is yet unknown, highlighting the power of Bayesian networks in knowledge discovery. Identifying an initial stress signal, augmenting it by combining other databases, and finally learning the structure of Bayesian networks allowed us to find genes closely related to stress, with the possibility of further exploring the system in future studies.

Childhood-onset Huntignton´s disease. A rare presentation. / Enfermedad de Huntington de inicio en la infancia. Una presentación poco frecuente.

INTRODUCTION: Huntington's disease (HD) is a rare autosomal dominant disease caused by the expansion of CAG triplets in the gene that encodes huntingtin. There are earlier symptoms' onset in offspring due to the phenomenon of anticipation. The clinical features of childhood-onset HD, before age 10 years, differs from adult-onset form. It is characterized by motor impairment, behavioral difficulties and delay or regression in areas of development; while chorea is rarely seen. In this case we describe clinical aspects of a patient with childhood-onset Huntington's disease. CASE REPORT: A 5-year-old girl with a family history of HD and typical development up to 3 years of age. She progressively acquired language impairment with skills that were below her age in expressive and receptive areas, without deficits in pragmatic and social skills. Regarding motor skills, she manifested instability at walking and standing, with rigidity, dystonia and choreic movements. Atrophy of the basal ganglia was evident on MRI, EEG was normal, and molecular confirmation of CAG triplet revealed repeat length of 51 copies. CONCLUSION: Childhood-onset HD differs from adult-form´s clinical manifestations. It should be considered in patients with progressive motor and cognitive impairment. Due to family inheritance, it is important to carefully examine family history and take it into account even without relatives affected, considering the anticipation phenomenon.

TITLE: Enfermedad de Huntington de inicio en la infancia. Una presentación poco frecuente.Introducción. La enfermedad de Huntington (EH) es una enfermedad de herencia autosómica dominante caracterizada por la expansión de tripletes de citosina-adenina-guanina (CAG) en el gen que codifica la huntingtina. Los síntomas en la descendencia suelen ser más tempranos por el fenómeno de anticipación. La clínica de inicio en la infancia, antes de los 10 años, difiere de la observada en la adultez. Se manifiesta por afectación motora, dificultades conductuales y retraso o regresión del desarrollo. La corea es infrecuente. El objetivo del caso es describir aspectos clínicos de una paciente con EH de inicio infantil. Caso clínico. Niña de 5 años con antecedentes familiares de EH y desarrollo típico hasta los 3 años. Presentó progresivamente afectación del lenguaje con habilidades descendidas para su edad en aspectos expresivos y comprensivos, sin afectación en las habilidades pragmáticas y sociales. En cuanto a la motricidad, la marcha y la bipedestación eran inestables, y mostraba rigidez, distonía y movimientos coreicos. Presentó atrofia de los núcleos lenticulares y caudados en la resonancia magnética, y posteriormente se realizó el diagnóstico molecular con la expansión de tripletes CAG (51 copias). Conclusión. La EH de inicio en la infancia presenta manifestaciones clínicas distintas a la forma del adulto. Debe considerarse en pacientes con afectación motora y cognitiva progresiva. Por la herencia familiar, es importante interrogar cuidadosamente sobre los antecedentes familiares y tenerla en cuenta aun sin familiares afectados por el fenómeno de anticipación.

Relationship between dietary characteristics and heel quantitative ultrasound parameters in postmenopausal women from the OsteoLaus cohort.

The role of dietary patterns in the development of osteoporosis is unclear. The heel quantitative ultrasound (QUS) is a potential alternative to Dual X-Ray Absorptiometry. Nutrients, foods, dietary patterns and compliance to dietary guidelines were compared between the lowest and the highest tertiles of QUS parameters [Broadband Ultrasound Attenuation (BUA), Speed of Sound (SOS), Stiffness Index (SI)], using data from the OsteoLaus cohort. Participants in the highest tertiles of QUS parameters (385 for BUA, 397 for SOS, 386 for SI) were younger, of higher body weight, and had less major osteoporotic fractures. Women in the highest tertiles of SI and BUA consumed more fat (35.1 ± 0.4 vs 33.9 ± 0.4 and 34.9 ± 0.4 vs 33.8 ± 0.4 gr/day for SI and BUA, respectively, p < 0.05), and complied less frequently with dairy intake guidelines [odds ratio (95% confidence interval): 0.70 (0.53-0.92) and 0.72 (0.55-0.95) for SI and BUA, respectively, p < 0.05] than women in the lowest tertile. No differences were found regarding dietary patterns, healthy dietary scores, or compliance to dietary guidelines. Postmenopausal women in the highest QUS tertiles were younger, of higher weight and BMI, consumed more monounsaturated fatty acids and less dairy and calcium than women in the lowest tertiles. No differences were found between QUS tertiles regarding dietary patterns.

Hypoxic ischemic encephalopathy (HIE).

Introduction: The morbidity and mortality of acute ischemic hypoxic encephalopathy in newborns have not been dramatically modified over the last 20 years. The purpose of this review is to describe the use of hyperbaric oxygenation therapy (HBOT) in the management of acute ischemic hypoxic encephalopathy in newborns. Methods: A review of the medical literature was conducted on the use of HBOT in the pathophysiology of this condition and its impact on outcomes of patients treated at an early stage. Results: When HBOT is administered promptly, it can promote the survival of the penumbra, modulate the cytokine storm, modify inflammatory cascades, restore mitochondrial function, inhibit apoptosis, reinstate cellular communication and cytoskeleton function, reinstall the functioning of the kinase system, reduce cytotoxic and tissue edema, promote microcirculation, and provide an antioxidant effect. All these secondary mechanisms aid in saving, rescuing, and protecting the marginal tissue. Conclusion: When used promptly, HBOT is a non-invasive adjunct treatment that can preserve the marginal tissue affected by ischemia, hypoxia, meet the metabolic needs of the penumbra, reduce inflammatory cascades, prevent the extension of the damaged tissue, and modulate ischemia-reperfusion injury.

Arrhythmogenic Left Ventricular Mass as the Initial Presentation of Cardiac Sarcoidosis.

Cardiac tumors of the left ventricle are rare, and cardiac magnetic resonance is the preferred imaging tool for evaluation given superior tissue characterization. We present a case of a patient with arrhythmia and left ventricular mass that was ultimately diagnosed with cardiac sarcoidosis, reminding us that tissue is the issue.

EEG subject-dependent neurofeedback training selectively impairs declarative memories consolidation process.

The process of stabilization and storage of memories, known as consolidation, can be modulated by different interventions. Research has shown that self-regulation of brain activity through Neurofeedback (NFB) during the consolidation phase significantly impacts memory stabilization. While some studies have successfully modulated the consolidation phase using traditional EEG-based Neurofeedback (NFB) that focuses on general parameters, such as training a specific frequency band at particular electrodes, they often overlook the unique and complex neurodynamics that underlie each memory content in different individuals, potentially limiting the selective modulation of memories. The main objective of this study is to investigate the effects of a Subject-Dependent NFB (SD-NFB), based on individual models created from the brain activity of each participant, on long-term declarative memories. Participants underwent an experimental protocol involving three sessions. In the first session, they learned images of faces and houses while their brain activity was recorded. This EEG data was used to create individualized models to identify brain patterns related to learning these images. Participants were then divided into three groups, with one group receiving SD-NFB to enhance brain activity linked to faces, another to houses, and a CONTROL sham group that did not receive SD-NFB. Memory performance was evaluated 24 h and seven days later using an 'old-new' recognition task, where participants distinguished between 'old' and 'new' images. The results showed that memory contents (faces or houses) whose brain patterns were trained via SD-NFB scored lower in recognition compared to untrained contents, as evidenced 24 h and seven days post-training. In summary, this study demonstrates that SD-NFB can selectively impact the consolidation of specific declarative memories. This technique could hold significant implications for clinical applications, potentially aiding in the modulation of declarative memory strength in neuropsychiatric disorders where memories are pathologically exacerbated.

Ultrastructural cardiac pathology: the wide (yet so very small) world of cardiac electron microscopy.

Electron microscopy (EM) was a popular diagnostic tool in the 1970s and early 80s. With the adoption of newer, less expensive techniques, such as immunohistochemistry, the role of EM in diagnostic surgical pathology has dwindled substantially. Nowadays, even in academic centers, EM interpretation is relegated to renal pathologists and the handful of (aging) pathologists with experience using the technique. As such, EM interpretation is truly arcane-understood by few and mysterious to many. Nevertheless, there remain situations in which EM is the best or only ancillary test to ascertain a specific diagnosis. Thus, there remains a critical need for the younger generation of surgical pathologists to learn EM interpretation. Recognizing this need, cardiac EM was made the theme of the Cardiovascular Evening Specialty Conference at the 2023 United States and Canadian Academy of Pathology (USCAP) annual meeting in New Orleans, Louisiana. Each of the speakers contributed their part to this article, the purpose of which is to review EM as it pertains to myocardial tissue and provide illustrative examples of the spectrum of ultrastructural cardiac pathology seen in storage/metabolic diseases, cardiomyopathies, infiltrative disorders, and cardiotoxicities.

Characterization of workers or population percentage affected by low-back pain (LPB), sciatica and herniated disc due to whole-body vibrations (WBV).

Whole-body vibrations have several harmful effects on the population's health. The most suitable way to characterize the vibrations is to use the daily vibration exposure A (8) and Vibration Dose Value as specified in Directive 2002/44/EC. Therefore, based on the existing literature, we propose Probit equations that allow us to relate the population percentage affected by the vibration effects (low-back pain, sciatica, and herniated disc) with the A (8) and the Vibration Dose Value. It is worth noting that there is a good correlation between the experimental data and the expressions obtained, especially for low-back pain and herniated discs. Once the expressions have been validated, we analyze the limit values given in the aforementioned legislation, showing that the percentage of the affected population is significant for them. Therefore, this study also proposes new limits based on their own definitions, which are more in line with the results shown in the bibliography.

Pharmacological induction of diabetes mellitus in pregnant female mice: a comparison of two doses and routes of administration.

OBJECTIVE: This study aimed to compare two routes of administration and different dosages of streptozotocin (STZ) for the pharmacological induction of gestational diabetes mellitus (GDM) in pregnant CD1 females. MATERIALS AND METHODS: 35 female CD1 mice were divided into 5 groups (n = 7). Diabetes mellitus (DM) was induced with STZ by two routes and two doses: 1) Control Group without administration of STZ (CL), 2) Intraperitoneal Group with 200 mg of STZ/Kg of weight (IP200), 3) Intraperitoneal Group with 230 mg of STZ/Kg of weight (IP230), 4) Subcutaneous Group with 200 mg of STZ/Kg of weight (SC200) and 5) Subcutaneous Group with 230 mg of STZ/Kg of weight (SC230). Body weight, food and water intake, glycemia, Homeostatic Model Assessment of Insulin Resistance Index (HOMA-IR), survival, and birth rate were identified. RESULTS: The SC230 group turned out to be the most effective dose and route for the induction of GDM in pregnant females. This scheme managed to reproduce sustained hyperglycemia with high HOMA-IR, the presence of polyphagia, polydipsia, and weight loss. In addition, the birth rate and survival were high compared to the other doses and routes of administration. CONCLUSIONS: The administration of a single dose of 230 mg/kg of weight by subcutaneous route supposes advantages compared to previously used models since it decreases the physiological stress due to manipulation and the costs since it does not require repeated doses or adjuvants such as high lipid diets to potentiate the diabetogenic effect of STZ. Graphical Abstract: https://www.europeanreview.org/wp/wp-content/uploads/Graphical-abstract-12.jpg.

[Translated article] Type III acromioclavicular dislocation: Mid term results after operative and non-operative treatment.

INTRODUCTION: Controversy exists in the literature about the best treatment for type III acromioclavicular dislocations. The aim of this study is to compare functional results between surgical and conservative treatment in type III acromioclavicular joint dislocations. MATERIAL AND METHOD: We retrospectively evaluated the records of 30 patients from our area with acute type III acromioclavicular dislocations that were treated from January 1st, 2016 to December 31st, 2020. Fifteen patients were treated surgically and 15 conservatively. Follow-up mean time was 37.93 months in operative group and 35.73 months in non-operative group. Results obtained on the Constant score was the main variable analysed and results obtained on the Oxford score and the Visual Analogue Scale for pain were the secondary variables. Epidemiological variables were analysed, as well as range of mobility in injured shoulder and subjective and radiological variables (distance between the superior border of the acromion and the superior border of the clavicle's distal end and presence of osteoarthritis in the acromioclavicular joint). RESULTS: Functional evaluation scores did not show differences between the two groups (Constant: operative 82/non-operative 86.38, p 0.412; Oxford: operative 42/non-operative 44.80, p 0.126) nor did Visual Analogue Scale (operative 1/non-operative 0.20, p 0.345). Subjective evaluation of the injured shoulder was excellent or good in 80% of the patients in both groups. Measurement of the distance between the superior border of the acromion and the superior border of the clavicle's distal end were significantly higher in non-operative group (operative 8.95/non-operative 14.21, p 0.008). CONCLUSIONS: Although radiographic results were better in the surgical treatment group, functional evaluation scores did not show significant differences between the two groups. These results do not support the routine use of surgical treatment for grade III acromioclavicular dislocations.

A phase I study to evaluate the safety, pharmacokinetics, and pharmacodynamics of PF-06939999 (PRMT5 inhibitor) in patients with selected advanced or metastatic tumors with high incidence of splicing factor gene mutations.

BACKGROUND: Protein arginine methyltransferase 5 (PRMT5) methylates multiple substrates dysregulated in cancer, including spliceosome machinery components. PF-06939999 is a selective small-molecule PRMT5 inhibitor. PATIENTS AND METHODS: This phase I dose-escalation and -expansion trial (NCT03854227) enrolled patients with selected solid tumors. PF-06939999 was administered orally once or twice a day (q.d./b.i.d.) in 28-day cycles. The objectives were to evaluate PF-06939999 safety and tolerability to identify maximum tolerated dose (MTD) and recommended part 2 dose (RP2D), and assess pharmacokinetics (PK), pharmacodynamics [changes in plasma symmetric dimethylarginine (SDMA) levels], and antitumor activities. RESULTS: In part 1 dose escalation, 28 patients received PF-06939999 (0.5 mg q.d. to 6 mg b.i.d.). Four of 24 (17%) patients reported dose-limiting toxicities: thrombocytopenia (n = 2, 6 mg b.i.d.), anemia (n = 1, 8 mg q.d.), and neutropenia (n = 1, 6 mg q.d.). PF-06939999 exposure increased with dose. Steady-state PK was achieved by day 15. Plasma SDMA was reduced at steady state (58%-88%). Modulation of plasma SDMA was dose dependent. No MTD was determined. In part 2 dose expansion, 26 patients received PF-06939999 6 mg q.d. (RP2D). Overall (part 1 + part 2), the most common grade ≥3 treatment-related adverse events included anemia (28%), thrombocytopenia/platelet count decreased (22%), fatigue (6%), and neutropenia (4%). Three patients (6.8%) had confirmed partial response (head and neck squamous cell carcinoma, n = 1; non-small-cell lung cancer, n = 2), and 19 (43.2%) had stable disease. No predictive biomarkers were identified. CONCLUSIONS: PF-06939999 demonstrated a tolerable safety profile and objective clinical responses in a subset of patients, suggesting that PRMT5 is an interesting cancer target with clinical validation. However, no predictive biomarker was identified. The role of PRMT5 in cancer biology is complex and requires further preclinical, mechanistic investigation to identify predictive biomarkers for patient selection.

Clinical and genetic factors involved in Porto-sinusoidal vascular disorder after oxaliplatin exposure.

BACKGROUND AND AIMS: Oxaliplatin (OX) has been described as a potential etiologic agent for porto-sinusoidal vascular disorder (PSVD). Our aim was to describe the natural history of PSVD due to OX in colon cancer (CRC) and identify risk factors for its development. METHODS: We made a multicenter retrospective case-control (ratio 1:3) study with patients diagnosed of PSVD-OX. Baseline data, end of treatment, years of follow-up and diagnosis of PSVD were collected and compared to controls (without PSVD). Besides, 16 different SNPs were selected from bibliography and analyzed by genotyping in the case group to identify potential genetic risk factors. RESULTS: 41 cases were identified, with a median time to PSVD diagnosis after the end of OX of 34 months. Spleen diameter was the strongest predictor of PSVD during treatment (OR 43.94 (14.48-133.336); p < 0.0001). Additionally, thrombocytopenia (<150 × 10^9) at one year was a significant disease risk marker (OR 9.35; 95% CI: 3.71-23.58; p = 0.001). We could not establish any significant association between the selected SNPs and PSVD diagnosis. CONCLUSION: The increase of spleen diameter is the strongest predictor of PSVD in patients treated with OX for CRC. These patients could be candidates for a specific follow-up of portal hypertension-related complications.

Efficacy of an aloe vera, chamomile, and thyme cosmetic cream for the prophylaxis and treatment of mild dermatitis induced by radiation therapy in breast cancer patients (the Alantel study).

Objectives: Radiation-induced dermatitis (RD) is one of the most common toxicities in radiation therapy (RT) patients. Corticosteroids, immunosuppressants, and natural products (NPs) have been used as treatment. The objective was to evaluate the efficacy of a NPs-based cream (Alantel®) to reduce the incidence of RD in women with breast cancer undergoing RT treatment. Design: We conducted a controlled, randomized, double-blind clinical trial. Setting: Radiation Oncology Unit of the Reina Sofía Hospital and 5 Primary Care centers of the Cordoba and Guadalquivir Health District (Spain). Interventions: Patients assigned to the experimental group (GTA) were treated with Alantel, while those in the control group (GTE) were treated with a moisturizer and emollient cream. Main outcome measures: The primary outcome variable was the incidence of RD. RD-free time, duration of RD, quality of life, and product safety were also assessed. Results: Seventy patients were included in the study, 35 in the GTA and 35 in the GTE. The incidence of RD was lower in the GTA (71.4%) than in the GTE (91.4%) after 4 weeks of follow-up (RR = 0.78; NNT = 5; p < 0.031). The Skindex-29 questionnaire showed differences in the statement: "My skin condition makes it hard to work or do hobbies" (17.1% in the GTE vs. 2.9% in GTA; p = 0.024). Conclusions: The higher efficacy of Alantel® compared to the control cream in reducing the incidence of RD in women with breast cancer has been demonstrated.

Factores asociados al diagnóstico tardío del Trastorno del Espectro Autista / Factors associated with delayed diagnosis of Autism Spectrum Disorder

El trastorno del espectro autista (TEA) es una condición crónica del neurodesarrollo caracterizada por déficits persistentes en la comunicación e interacción social y un patrón de intereses restringidos y/o comportamientos repetitivos que pueden afectar el funcionamiento del individuo en la vida diaria familiar y comunitaria. El diagnóstico oportuno intenta mejorar la trayectoria, reducir el impacto funcional y disminuir los efectos de condiciones médicas asociadas. El diagnóstico tardío de TEA es considerado como aquel realizado luego de los 6 años de edad, en coincidencia con el fin de la escolaridad inicial. Si bien esta edad puede resultar arbitraria lo que se busca es una generalización de aquellos casos en los que probablemente hubo múltiples pérdidas de oportunidades diagnósticas y terapéuticas. Objetivo: Reflexionar sobre los determinantes del diagnóstico tardío del TEA con el fin de proponer posibles soluciones a esta problemática. Desarrollo: A partir de tres viñetas clínicas de pacientes que recibieron el diagnóstico en nuestro servicio, luego de los 6 años de edad, nos proponemos identificar y analizar aquellos factores (motivos sociodemográficos, problemas organizacionales, en la etapa de evaluación diagnóstica, respecto al género, cuidadores/ familiares y características clínicas) que determinan la demora diagnóstica. Conclusiones: El diagnóstico tardío del TEA es una problemática compleja y multifactorial, que implica desafíos significativos en el desarrollo de los NNyA con esta condición, sus familias y su entorno. Es importante considerar las causas que demoran el diagnóstico, desde el ámbito clínico, familiar y socio-ambiental para poder intervenir oportunamente (AU)

Autism spectrum disorder (ASD) is a chronic neurodevelopmental condition characterized by persistent deficits in communication and social interaction and a pattern of restricted interests and/or repetitive behaviors that can affect the individual's daily functioning both at home and in the community. Early diagnosis is important to improve the developmental trajectory, reduce functional impairment, and decrease the impact of comorbid medical conditions. Delayed diagnosis of ASD is defined as a diagnosis made after the age of 6 years, coinciding with the end of preschool. Although this age may be arbitrary, it serves to encompass cases in which there were probably multiple missed diagnostic and therapeutic opportunities. Objective: To explore the causes of late diagnosis of ASD in order to propose possible solutions to this problem. Development: Based on three clinical vignettes of patients who were diagnosed at our department after 6 years of age, we aimed to identify and analyze factors influencing diagnostic delays. These factors included sociodemographic causes, organizational challenges, issues during the diagnostic workup, considerations related to gender, caregivers/families, and clinical characteristics. Conclusions: Delayed diagnosis of ASD is a complex and multifactorial problem leading to significant challenges in the development of children and adolescents with this condition as well as their families and their environment. Identification of the causes of diagnostic delay is important from the clinical, family and socio-environmental point of view, in order to start timely interventions (AU)

Consultas de demanda espontánea sobre trastornos del desarrollo en el Hospital Garrahan / Spontaneous consultations for developmental disorders at Garrahan Hospital

Introducción: Los trastornos del desarrollo (TD) constituyen un motivo de consulta muy frecuente en la práctica pediátrica. El Hospital Garrahan recibe por demanda espontánea al servicio de Mediano Riesgo (MR) consultas de cuidadores con preocupaciones sobre el desarrollo de los niños, niñas y adolescentes (NNyA). Allí son valorados por pediatras clínicos, quienes realizan la interconsulta al servicio de Clínicas Interdisciplinarias del Neurodesarrollo (CIND) según necesidad (representan el 10% del total de consultas en MR). El objetivo del trabajo es comparar las características de los pacientes de MR que fueron consultados al área de Maduración de CIND durante el bimestre marzo/abril de 2016, 2021 y 2022. Materiales y métodos: estudio retrospectivo, observacional y comparativo. Se revisaron las historias clínicas analizando las siguientes variables: edad, procedencia, contar con pediatra de cabecera, cobertura de salud, motivo de consulta y sospecha diagnóstica. Resultados: La cantidad de consultas aumentó por encima del 20%, con un descenso en la mediana de edad de alrededor de un año. Aproximadamente el 70% de los pacientes procedían del conurbano en los tres períodos. Observamos un descenso respecto al número de NNyA con seguimiento pediátrico y cobertura social. El lenguaje y la conducta fueron los motivos más frecuentes de consulta y la mayor sospecha diagnóstica fue el Trastorno del Espectro Autista (TEA). Conclusiones: Los datos observados pueden relacionarse con el impacto de la pandemia así como también con las condiciones socio-económicas de los últimos cinco años, con un mayor conocimiento acerca del desarrollo y un probable aumento de la prevalencia de los TD (AU)

Introduction: Developmental disorders (DD) are a frequent reason for consultation in pediatric practice. The Garrahan Hospital receives spontaneous consultations at the department of Intermediate Risk (IR) from caregivers with concerns about the development of children and adolescents. At the IR department, children and adolescents are evaluated by clinical pediatricians, who consult with specialists at the Interdisciplinary Neurodevelopmental Clinic (INDC) as needed (accounting for 10% of the total number of consultations at the IR department). The aim of this study was to compare the characteristics of IR patients who were consulted at the INDC during the bimonthly period March/April 2016, 2021, and 2022. Materials and methods: a retrospective, observational, and comparative study was conducted. Medical records were reviewed analyzing the following variables: age, provenance, having a primary care pediatrician, healthcare insurance, reason for consultation, and diagnostic suspicion. Results: The number of consultations increased by over 20%, with a decrease in median age of around one year. Approximately 70% of the patients came from Greater Buenos Aires in the three periods. A decrease in the number of children and adolescents with pediatric follow-up and a social health insurance was observed. Language and behavior disorders were the most frequent reasons for consultation and autism spectrum disorder (ASD) was most often suspected. Conclusions: The observed data may be related to the impact of the pandemic as well as socio-economic conditions over the last five years, together with increased knowledge about development and a probable increase in the prevalence of ASD (AU)

Evolución cognitiva en la etapa escolar de un grupo de niños con retraso global del desarrollo / Cognitive evolution in the school stage of a group of children with global developmental delay

Introducción: Existen pocos estudios sobre la evolución del retraso global del desarrollo (RGD), por lo que se cuestiona su valor pronóstico. Objetivo: Describir la evolución cognitiva en la edad escolar de niños con diagnóstico inicial de RGD. Pacientes y Métodos: Estudio observacional, transversal, con análisis prospectivo y retrospectivo. Fueron incluidos niños de seis a once años de edad, con diagnóstico previo de RGD. La variable punto final fue la presencia o no del déficit cognitivo (menor a dos desvíos estándares en las pruebas cognitivas), se realizó análisis con el paquete estadístico R. Resultados: Se estudiaron 150 pacientes con diagnóstico inicial de RGD, 86 con compromiso leve y 64 moderado-severo. El déficit cognitivo persistió en 75 pacientes (50%), 34.8% en el grupo leve y 70.3% en el moderado-severo Del resto, un 13% tuvo rendimiento promedio, un 20%, limítrofe y el 17% perfil discrepante. El análisis univariado identificó cuatro factores de riesgo asociados a persistencia del compromiso cognitivo: el grado de compromiso inicial moderado/severo (OR 4,59, 2,24-9,78), el tiempo de tratamiento menor a tres años (OR 2,30 1,02-5,34), las necesidades básicas insatisfechas (OR 1,62 0,76-3,47) y la presencia de síndrome genético (OR 2,99 1,09-8,99). El modelo de regresión logística con mayor poder explicativo incluyó estas cuatro variables (p 0.9998). Conclusiones: La trayectoria cognitiva mostró un 50 % de persistencia del déficit cognitivo. El grado de compromiso inicial, la duración del tratamiento, las necesidades básicas insatisfechas y la presencia de un síndrome genético asociado mostraron asociación con la persistencia del mismo (AU)

Introduction: Studies on the outcome of global developmental delay (GDD) are scarce, and therefore, their prognostic value is questionable. Objective: To describe the cognitive outcome at school age of children initially diagnosed with GDD. Patients and Methods: Cross-sectional, observational study with a prospective and retrospective analysis. Children between six and 11 years of age with a previous diagnosis of GDD were included. The endpoint variable was the presence or not of a cognitive deficit (two standard deviations below the mean on cognitive tests). Analyses were performed using the R Statistical Software. Results: 150 patients with an initial diagnosis of GDD were studied, 86 with mild and 64 with moderate-to-severe involvement. The cognitive deficit persisted in 75 patients (50%); 34.8% of whom were in the mild and 70.3% in the moderate-to-severe group. Of the remaining patients, performance was average in 13%, borderline in 20%, and the profile was discrepant in 17%. Univariate analysis identified four risk factors associated with persistence of the cognitive deficit: initial moderate-to-severe degree of the deficit (OR 4.59, 2.24-9.78), treatment duration less than three years (OR 2.30, 1.02-5.34), unsatisfied basic needs (OR 1.62, 0.76- 3.47), and presence of a genetic syndrome (OR 2.99, 1.09-8.99). The logistic regression model with the strongest explanatory power included these four variables (p 0.9998). Conclusions: In 50% the cognitive course showed a persistent cognitive deficit. The degree of initial compromise, treatment duration, unsatisfied basic needs, and presence of a genetic syndrome were associated with persistence of the deficit. (AU)

Primer consenso cubano sobre el uso de terapia convencional y biológica en pacientes con artritis reumatoide / First Cuban consensus on the use of conventional and biological therapy in patients with rheumatoid arthritis

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Introduction: The development of recommendations for the treatment of rheumatoid arthritis (RA) in the Cuban context may be one of the ways to achieve better control of this disease. Objective: To reach a consensus and update relevant aspects of conventional and biological RA modifier therapy in Cuba. Methods: 18 specialists from 8 Cuban provinces, experts in RA care, were summoned, according to the years of dedication to the specialty, the conferences on this topic and their publications. The first meeting took place in March 2016 in the provincial hospital of Villa Clara, Cuba, with the participation of all the experts. A review of the literature on conventional and biological therapy previously collected by the participants was developed, and two teams were formed: the first would address everything related to conventional therapy in RA (HRCT) and the other, biological therapy in RA (TBAR). Three questionnaires related to the use of corticosteroids, HRCT and TBAR, were prepared, answered by the participants via email. In a second meeting, held in October 2016 in Havana, the analysis of all the responses provided was carried out. Questions with a response of 90% or more votes were considered as recommendations. Results: The questionnaires were answered by 95% of the participants. 9 recommendations and 1 algorithm were established. The recommendations are as follows: methotrexate is the drug of choice in the treatment of RA after diagnosis; The administration of another conventional drug (DMARDc) (azathioprine, salazosulfapyridine, antimalarials and leflunomide) is recommended in patients with a diagnosis of active RA in whom methotrexate is contraindicated or there is a failure in response - consider the administration of low doses of prednisone or equivalent (<7.5 mg/d) associated with DMARDc in patients with active moderate to severe RA, for the shortest possible time; perform serological control including tests for hepatitis B and C viruses and screening for HIV in all patients diagnosed with RA before starting treatment with DMARDc and biologics; in patients in remission or, at least, with a DAS-28 below 3.2, consideration should be given to withdrawing one of the DMARDs or reducing, to the minimum possible expression, the dose of both disease modifiers; if methotrexate fails, tocilizumab in combination with methotrexate or as monotherapy will be indicated. Conclusions: Aspects related to conventional therapy with methotrexate, azathioprine, salazosulfapyridine, antimalarials and leflunomide were agreed. The value of early diagnosis and immediate initiation of DMARDc therapy and the use of glucocorticoids was analyzed. Treatment with tocilizumab, the only biological available in Cuba against RA, will be administered when there is a failure in the response to conventional therapy and combinations between these drugs. It is recommended to hold educational conferences through the mass media aimed at patientshttp(AU)

Telemedicina en las Unidades de Cuidados Intensivos Pediátricos: Desarrollo de una nueva modalidad asistencial / Telemedicinein Pediatric Intensive Care Units: Development of a new care model

Los Programas telemédicos entre unidades de cuidados intensivos han demostrado ser eficaces en el mundo. En Argentina realizamos el primer programa piloto entre una Unidad de Cuidados Intensivos Pediátricos de Buenos Aires (UCIP- BA) y Santiago del Estero (UCIP-S). En el presente trabajo describimos el desarrollo y la evaluación de una nueva modalidad de asistencia para el diagnóstico, tratamiento y seguimiento a distancia de los pacientes en UCIP. Se implementó un programa de atención sincrónica para pacientes internados y seleccionados por la UCIP-S. Se utilizó un sistema de videoconferencia y se realizó un seguimiento en conjunto de los pacientes. La evaluación se realizó con una encuesta de satisfacción de los usuarios. Ingresaron al estudio 29 pacientes, 72 % del sexo masculino. La edad promedio fue de 35 meses (2-168). El diagnóstico más frecuente fue shock séptico y el acompañamiento en el diagnóstico la conducta más frecuente. Solo cinco pacientes obitaron y se registraron 3 derivaciones al Hospital Garrahan. Se realizaron 155 teleconferencias y 396 consultas, con un tiempo promedio diario de 48 minutos, La media de seguimientos por pacientes fue de 20,6 días (2-107). Tele-UCI mejoró la capacidad de comprensión de la situación clínica (96%) y modificó la relación con la familia (65%). El modelo asistencial demostró un 88.5% de satisfacción. A través de estos resultados concluimos que según los profesionales participantes, Tele-UCI respaldó al equipo que se encarga del seguimiento diario de los pacientes, generando una disminución de traslados de pacientes (AU)

Telemedicine programs between intensive care units have proven effective worldwide. In Argentina we conducted the first pilot program between a Pediatric Intensive Care Unit in Buenos Aires (PICU- BA) and another in Santiago del Estero (PICU-S). In this study, we describe the development and evaluation of a new care modality for the diagnosis, treatment, and remote monitoring of patients in the PICU. A synchronous care program for inpatients selected by PICU-S was implemented. A videoconferencing system was used and patients were monitored together. The program was evaluated with a user satisfaction survey. Twenty-nine patients, 72% of the male sex, were included in the study. Mean age was 35 months (2-168). The most common diagnosis was septic shock and in the majority of cases the diagnosis was confirmed. Only five patients died and three were referred to Garrahan Hospital. Overall, 155 teleconferences and 396 consultations were conducted, with a mean daily time of 48 minutes. Mean monitoring time per patient was 20.6 days (2-107). Tele-ICU improved the ability to understand the clinical situation (96%) and changed the relationship with the family (65%). The care model showed an 88.5% satisfaction rate. Based on these results, we conclude that according to the participating professionals, TeleICU supported the team that is in charge of the daily monitoring of patients, leading to a decrease in patient transfers (AU)

Evaluación funcional del neurodesarrollo a los 24-30 meses de edad, de niños que requirieron terapias complejas durante el período neonatal / Functional assessment of neurodevelopment at 24-30 months of life of children requiring complex interventions in the neonatal period

El objetivo de este trabajo fue la evaluación funcional del neurodesarrollo de niños que requirieron terapias complejas neonatales entre los 24 y 30 meses de vida. Se incluyeron 104 pacientes evaluados en el Servicio de Clínicas Interdisciplinarias del Neurodesarrollo del Hospital de Pediatría Juan P. Garrahan, mediante pruebas estandarizadas; cuestionarios auto administrados y datos extraídos del interrogatorio, el examen físico y la historia clínica. A partir de los mismos los pacientes fueron agrupados según el grado de compromiso de su funcionalidad en dos grupos: el primero sin compromiso o compromiso leve y el segundo con compromiso moderado o severo. La evaluación funcional intenta desde una perspectiva biopsicosocial evaluar las habilidades, las dificultades y las características del entorno, que pueden ser tanto facilitadores como barreras para el desarrollo de la persona. De esta manera, permite un abordaje holístico del paciente y muestra como gran fortaleza frente a los diagnósticos categórico y etiológico, la adecuación de los sistemas de apoyos necesarios para cada paciente particular. En concordancia con la bibliografía sobre el riesgo biológico aumentado de esta población, el 44.2% de los niños de la muestra se encontraron dentro del grupo con compromiso funcional moderado/severo. En el análisis univariado las variables que presentaron asociación significativa con el grado de severidad del funcionamiento fueron la prematurez extrema, la displasia broncopulmonar, las lesiones en las ecografías cerebrales neonatales, internaciones neonatales prolongadas y los síndromes genéticos. Entre los factores medio-ambientales, se encontró asociación con progenitor solo y necesidad básicas insatisfechas (AU)

The aim of this study was the functional assessment of the neurodevelopment of children who require complex neonatal interventions between 24 and 30 months of life. Overall, 104 patients were evaluated at the Department of Interdisciplinary Clinics of Neurodevelopment at Hospital de Pediatría Juan P. Garrahan, with standardized tests, self-administered questionnaires and data gleaned from the interview, physical examination, and clinical records. Based on these data, the patients were divided into two groups according to the degree of functional involvement: a first group without or with mild functional compromise and a second group with moderate or severe compromise. From a biopsychosocial perspective, the purpose of functional assessment is the evaluation of skills, difficulties, and environmental characteristics that may be either facilitators or barriers to personal development. Thereby the assessment allows for a holistic approach of the patient and, unlike categorical and etiologic diagnosis, may lead to the adequate selection of the necessary support systems for each individual patient. In agreement with the literature on the increased biological risk in this population, 44.2% of the children in this sample were in the moderate/severe functional compromise group. In univariate analysis, the variables that were statistically significantly associated with degree of severity of function were extreme prematurity, bronchopulmonary dysplasia, lesion on neonatal ultrasonography, prolonged neonatal hospitalization, and genetic syndromes. Among environmental factors a significant association was found with a single parent and unsatisfied basic needs (AU)