Locked Distal Ulna Volar Dislocation Associated with a Malunited Fracture of the Distal Radius.

Background The volar dislocation of the distal ulna is an uncommon injury and often missed due to its rarity. If diagnosed early, it can be managed with a simple closed reduction followed by immobilization. Open reduction is recommended in case of any interposition preventing reduction. Case Description In this case report, we present a rare case of neglected volar distal ulna dislocation associated with a distal radius fracture presenting with a fixed supination deformity that was managed successfully with a Sauvé- Kapandji procedure using a modified approach to restore forearm rotation. At 10 months, the patient had a good union at the distal radio ulnar joint (DRUJ) with improved forearm rotations. Literature Review To our knowledge no previous cases of neglected volar distal ulna dislocation with distal radius fracture has been reported in the literature. Clinical Relevance If DRUJ stability cannot be restored after closed reduction of distal radius fracture, open reduction and internal fixation of the fracture should always be performed to avoid subsequent DRUJ subluxation/dislocations.

Radially Displaced Perilunate Injuries: A Report of Two Cases.

We present two unusual cases of radially displaced perilunate dislocations, one of which involved acute ulnar nerve compression requiring Guyon's canal release. The first case underwent closed reduction and cast immobilization but developed scapholunate instability, necessitating secondary ligament reconstruction. The second case, treated with open reduction and fixation, resulted in persistent volar intercalated segment instability of the proximal row and ulnar nerve paresthesia 1 year after surgery.

The interaction of the ribotoxin α-sarcin with complex model lipid vesicles.

Fungal ribotoxins are extracellular RNases that inactivate ribosomes by cleaving a single phosphodiester bond at the universally conserved sarcin-ricin loop of the large rRNA. However, to reach the ribosomes, they need to cross the plasma membrane. It is there where these toxins show their cellular specificity, being especially active against tumoral or virus-infected cells. Previous studies have shown that fungal ribotoxins interact with negatively charged membranes, typically containing phosphatidylserine or phosphatidylglycerol. This ability is rooted on their long, non-structured, positively charged loops, and its N-terminal ß-hairpin. However, its effect on complex lipid mixtures, including sphingophospholipids or cholesterol, remains poorly studied. Here, wild-type α-sarcin was used to evaluate its interaction with a variety of membranes not assayed before, which resemble much more closely mammalian cell membranes. The results confirm that α-sarcin is particularly sensitive to charge density on the vesicle surface. Its ability to induce vesicle aggregation is strongly influenced by both the lipid headgroup and the degree of saturation of the fatty acid chains. Acyl chain length is indeed particularly important for lipid mixing. Finally, cholesterol plays an important role in diluting the concentration of available negative charges and modulates the ability of α-sarcin to cross the membrane.

In Silico Pipeline to Identify Tumor-Specific Antigens for Cancer Immunotherapy Using Exome Sequencing Data.

Tumor-specific antigens or neoantigens are peptides that are expressed only in cancer cells and not in healthy cells. Some of these molecules can induce an immune response, and therefore, their use in immunotherapeutic strategies based on cancer vaccines has been extensively explored. Studies based on these approaches have been triggered by the current high-throughput DNA sequencing technologies. However, there is no universal nor straightforward bioinformatic protocol to discover neoantigens using DNA sequencing data. Thus, we propose a bioinformatic protocol to detect tumor-specific antigens associated with single nucleotide variants (SNVs) or "mutations" in tumoral tissues. For this purpose, we used publicly available data to build our model, including exome sequencing data from colorectal cancer and healthy cells obtained from a single case, as well as frequent human leukocyte antigen (HLA) class I alleles in a specific population. HLA data from Costa Rican Central Valley population was selected as an example. The strategy included three main steps: (1) pre-processing of sequencing data; (2) variant calling analysis to detect tumor-specific SNVs in comparison with healthy tissue; and (3) prediction and characterization of peptides (protein fragments, the tumor-specific antigens) derived from the variants, in the context of their affinity with frequent alleles of the selected population. In our model data, we found 28 non-silent SNVs, present in 17 genes in chromosome one. The protocol yielded 23 strong binders peptides derived from the SNVs for frequent HLA class I alleles for the Costa Rican population. Although the analyses were performed as an example to implement the pipeline, to our knowledge, this is the first study of an in silico cancer vaccine using DNA sequencing data in the context of the HLA alleles. It is concluded that the standardized protocol was not only able to identify neoantigens in a specific but also provides a complete pipeline for the eventual design of cancer vaccines using the best bioinformatic practices. Supplementary Information: The online version contains supplementary material available at 10.1007/s43657-022-00084-9.

Curative embolization of ruptured pediatric cerebral arteriovenous malformations.

INTRODUCTION: Embolization with the intention to cure has not been well studied in ruptured arteriovenous malformations (AVMs). Furthermore, the role of primary curative embolization of pediatric AVMs is uncertain. Hence, we aimed to characterize the safety and efficacy of curative embolization of ruptured pediatric AVMs and assess predictors of obliteration and complications. METHODS: A retrospective analysis of all pediatric (≤18 years) patients who underwent curative embolization of ruptured AVMs was conducted in two institutions between 2010 and 2022. The efficacy (complete angiographic obliteration after the last embolization session), recurrence (radiological recurrence of the lesion after confirmed obliteration in follow-up imaging), and safety (procedure-related complications and mortality) of the procedure were evaluated. RESULTS: Sixty-eight patients (38 females; mean age 12.4 ± 3.4 years) underwent a total of 109 embolization sessions. Median follow-up time was 18 months after embolization (ranged from 2 to 47 months). Complete angiographic obliteration was achieved in 42 patients (62%). In 30 patients (44%) the AVM was occluded with a single embolization session. Recurrence of a totally embolized lesion occurred in 9 patients (13%). Thirteen complications (11.9% of procedures) were observed, and no deaths were reported. A nidus size > 2 cm was the only independent predictor of complete obliteration (OR = 0.16; 95% CI 0.03 - 0.77; p = 0.030). CONCLUSION: Embolization of pediatric ruptured AVMs with curative intent can achieve acceptable obliteration rates. However, recurrence after complete obliteration and procedure-related complications of curative embolization of these lesions cannot be ignored. Ruptured AVMs ≤ 2 cm are adequate to achieve complete obliteration with curative endovascular management.

Factores relacionados con absentismo laboral en una compañía minera colombiana / Factors Related to Absenteeism in a Colombian Mining Company / Fatores relacionados ao absenteísmo em uma empresa de mineração colombiana

El absentismo laboral es una condición que afecta cada día a un gran número de empresas y que repercute en los ámbitos económico, social y cultural. Objetivo: Caracterizar el absentismo laboral por causa médica durante 2021 en trabajadores del área operativa de una compañía de extracción de minerales en Antioquia (Colombia). Materiales y métodos: Estudio con enfoque cuantitativo, de tipo descriptivo, retrospectivo para caracterizar el ab-sentismo laboral de una empresa minera, teniendo en cuenta una base de datos suministrada por dicha empresa, en la cual se presentaron los registros de absentismo de los trabajadores de la mina y sus diferentes áreas durante 2021, correspondiente a un total de 1069 incapacidades. Resultados: Los factores asociados con un aumento de la frecuencia del absentismo fueron la antigüedad del trabajador en la empresa, el cargo desempeñado y el área al cual se está adscrito, teniendo así que las causas más frecuentes de absentismo fueron las enfermedades de origen común de tipo respiratorio y traumatismos. Conclusión: El absentismo laboral se encuentra relacionado con el patrón de enfermedad o accidente laboral, y su prevalencia, en cuanto a áreas y sexo, se encuentra relacionada con las características propias de la compañía.

Work absenteeism is a condition that affects a large number of companies every day, generating an economic, social and cultural impact. Objective: To characterize absenteeism due to medical reasons during the year 2021 in workers of the operative area of a mineral extraction company in Antioquia, Colombia. Material and Methods: A quantitative, descriptive, retrospective study was conducted to characterize absenteeism in the operational area of a mining extraction company in Colombia, taking into account a database provided by the company, which presents the records of absenteeism of workers in the mine and its different areas during the period of 2021, corresponding to a total of 1,069 incapacities. Results: The factors associated with an increase in the frequency of absenteeism were the worker's seniority in the company, the position held and the area to which he/she is assigned, thus having that the most frequent causes of absenteeism were common respiratory diseases and traumatisms. Conclusion: It can be concluded that absenteeism is related to the pattern of occupational illness or accident, and that the prevalence of absenteeism in terms of areas and sex is related to the company's own characteristics.

O absenteísmo é uma condição que afeta muitas empresas todos os dias e tem repercussões nas esferas econômica, social e cultural. Objetivo: Caracterizar o absenteísmo por motivos médicos durante 2021 em trabalhadores da área operacional de uma empresa de extração mineral em Antioquia (Colômbia). Materiais e métodos: Estudo quantitativo, descritivo e retrospectivo para caracterizar o absenteísmo em uma empresa de mineração, levando em conta um banco de dados fornecido pela empresa, no qual foram apresentados os registros de absenteísmo dos trabalhadores da mina e de suas diferentes áreas durante 2021, correspondendo a um total de 1069 incapacidades. Resultados: Os fatores associados a um aumento na frequência de absenteísmo foram a antiguidade do trabalhador na empresa, o cargo ocupado e a área para a qual ele foi designado, sendo que as causas mais frequentes de absenteísmo foram doenças respiratórias de origem comum e traumatismos. Conclusão: O absenteísmo está relacionado ao padrão de doença ou acidente de trabalho, e sua pre-valência, em termos de áreas e sexo, está relacionada às características próprias da empresa

Achondroplasia: Update on diagnosis, follow-up and treatment.

Achondroplasia requieres multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of life of people who suffer from it and favoring their independence and social inclusion. This review is justified by the multiple publications generated in recent years that have carried out a change in its management. Different guidelines and recommendations have been developed, among which the one made by the American Academy of Pediatrics in 2005 recently updated (2020), the Japanese guide (2020), the first European Consensus (2021) and the International Consensus on the diagnosis, approach multidisciplinary approach and management of individuals with achondroplasia throughout life (2021). However, and despite these recommendations, there is currently a great worldwide variability in the management of people with achondroplasia, with medical, functional and psychosocial consequences in patients and their families. Therefore, it is essential to integrate these recommendations into daily clinical practice, taking into account the particular situation of each health system.

Consensus guide on prophylactic gonadectomy in different sex development.

The risk of suffering from gonadal germ cell tumors (GCT) is increased in some patients with different sexual development (DSD), mainly in those with Y chromosome material. This risk, however, varies considerably depending on a multitude of factors that make the decision for prophylactic gonadectomy extremely difficult. In order to make informed recommendations on the convenience of this procedure in cases where there is potential for malignancy, this consensus guide evaluates the latest clinical evidence, which is generally low, and updates the existing knowledge in this field.

Ultrasound criteria (EU-TIRADS) to identify thyroid nodule malignancy risk in adolescents. Correlation with cyto-histological findings.

INTRODUCTION: Thyroid nodule (TN) harbouring a thyroid carcinoma are more common in paediatric than adult patients. In paediatric population, the evaluation of a TN should require specific paediatric tools for its diagnostic and therapeutic management. High-resolution ultrasonography and cytological evaluation after fine-needle aspiration biopsy (FNAB) remain the cornerstones of evaluation of TN. OBJECTIVES: To evaluate in paediatric TN for the first time the usefulness and precision of the ultrasound criteria defined by the "Thyroid Imaging Reporting and Data System (EU-TIRADS) 2017 in adults" to establish the ultrasound indication for the practice of FNAB and stratify the risk of malignancy. PATIENTS AND METHODS: 24 paediatric patients under age 18 years with thyroid nodules were attended in the last 15 years, 24 of them (31 nodules; age: 15.2 ±â€¯2.2 years; 18 women) met the inclusion criteria: FNAB with Bethesda classification and ultrasound with EU-TIRADS score. EU-TIRADS score were evaluated retrospectively. Fourteen patients underwent surgery and the definitive histological diagnosis was obtained, this allowed the calculations of sensitivity, specificity and positive and negative predictive values of the EU-TIRADS and Bethesda classification. Data on the largest diameters of the nodules were collected. RESULTS: Of the overall 31 nodules, the distribution by EU-TIRADS (T) category was: T1 (3.2%), T2: 2 (6.4%), T3: 7 (22.6%), T4: 16 (51.6%) and T5: 5 (16.1%). All malignant nodules were included in EU-TIRADS category 4 or 5. By the other hand, 13 of the 25 benign nodules were also included in the EU-TIRADS 4 category, and one in the 5. The distribution by categories of Bethesda's classification (B): BI: 6 (19.4%), BII: 14 (45.2%), BIII: 5 (16.1%), BIV: 2 (6.5%), BV: 0 and BVI: 4 (12.9%). The pathological diagnosis of the 14 patients who underwent surgery was: 6 papillary carcinomas and 8 with benign lesions: 6 nodular hyperplasia and 2 follicular adenoma. The percentage of malignancy was 42%. The sensitivity of the EU-TIRADS classification to detect malignant nodules was 100%, the specificity was 25%, PPV 44% and NPV 100%. The sensitivity of the Bethesda classification to detect malignant nodules was 86%, the specificity was 75%, PPV 67% and NPV 90%. The analysis of the largest diameter of the nodules did not show statistically significant differences between benign and malignant lesions. CONCLUSIONS: EU-TIRADS for ultrasonographic criteria classification in combination with the clinical history is an adequate and reproducible method to estimate suspicion of malignancy of paediatric TN. It is also a reliable diagnostic tool to decide which nodules will be candidates for FNAB.

Kinetic Assessment of Mechanical Properties of a Cellulose Board Aged in Mineral Oil and Synthetic Ester.

In oil-immersed power transformers, the insulation system is constituted of a dielectric oil-solid combination. The insulation oil generally used is mineral oil; however, this fluid has started to be substituted by natural and synthetic esters due to their higher biodegradability and flash point. The introduction of a new fluid in the insulation system of power transformers requires kinetic models that can estimate the degradation rate of insulation solids. The aim of this work was to go further in quantifying through different kinetic models the deterioration suffered by a commercial cellulose board (PSP 3055), which is one of the solid materials used in the insulation system of oil-filled transformers. The aging study was extended to cellulose board specimens immersed in two different oils (mineral and synthetic ester). It was obtained that there is a lower degradation when synthetic ester is used in the insulation system. Additionally, it can be concluded that the use of mechanical properties to quantify the degradation of the cellulose board through kinetic models provides information about the different behavior shown by PSP 3055 when different fiber direction angles are considered.

Grado de desajuste entre las características antropométricas y el mobiliario escolar en una muestra de estudiantes españoles de 6 a 12 años: estudio piloto / Degree of mismatch between anthropometric characteristics and school furniture in a sample of Spanish students aged 6-12 years old: A pilot study

Introducción. El mobiliario escolar influye en la postura sedente que adopta el alumnado en el aula, con efectos en su salud y aprendizaje. Por ello, es preciso determinar la existencia de un posible desajuste entre las dimensiones del mobiliario escolar y la antropometría del alumnado, así como realizar una propuesta de tallas en base a la realidad del aula y las normativas de Galicia y la Unión Europea. Población y métodos. Un evaluador experto en antropometría realizó las mediciones de peso, talla, altura poplítea, hombro y codo sentado, con un antropómetro, comparándolas posteriormente con las sillas y mesas utilizadas actualmente. Las técnicas de análisis empleadas fueron: descriptivo (medidas de tendencia central), análisis de la varianza de un factor, prueba t, prueba de chi cuadrado (en software SPSS®) y tamaño del efecto (d de Cohen). El nivel de significación establecido fue de p ≤ 0,05. Resultados. La muestra se compuso de 108 estudiantes españoles de educación primaria (de entre 6 y 12 años). El 91,7 % y el 97,2 % del alumnado emplea, respectivamente, una silla y una mesa que no se ajusta a sus características antropométricas, y utiliza mobiliario con un tamaño superior al que le corresponde. La normativa de tallas de mobiliario que rige actualmente en la población estudiada no es apropiada, al no tener sillas y mesas adecuadas a los primeros cursos de primaria. Conclusiones. Existe un alto grado de desajuste entre el mobiliario y la antropometría del alumnado. Se propone seguir las tallas de la normativa europea, utilizando varias tallas por curso o mobiliario regulable, para adaptarse a las características antropométricas de todo el alumnado.

Introduction. School furniture affects the sitting position of students in the classroom, as well as their health and learning. Therefore, it is necessary to determine the existence of a potential mismatch between school furniture dimensions and students' anthropometric characteristics, as well as to propose dimensions based on classroom actuality and the regulations in place in both Galicia and the European Union. Population and methods. An evaluator with experience in anthropometry measured weight, height, popliteal height, sitting shoulder height, and sitting elbow height using an anthropometer and then compared values with the chairs and desks currently used. Analysis techniques were descriptive (measures of central tendency), single-factor analysis of variance, t test, χ² test (using the SPSS® software), and effect size (Cohen's d test). The significance level was established at p ≤ 0.05.Results. The sample was made up of 108 Spanish children in primary school (aged 6-12 years). Of them, 91.7 % and 97.2 % use, respectively, a chair and a desk that do not adjust to their anthropometric characteristics and use furniture that is larger than what they need. The regulations for furniture dimensions currently in place for the studied population are not adequate because the chairs and desks included are not adequate for the first grades of primary school. Conclusions. There is a high mismatch level between school furniture and students' anthropometric characteristics. We propose the use of the European regulations for furniture dimensions, with varying heights per grade or adjustable furniture that can be adapted to the anthropometric characteristics of all students.

Dolor y discapacidad cervical de los trabajadores públicos usuarios de pantallas de visualización de datos / Pain and cervical disability among public workers who use data visualization display terminals

Resumen Los trastornos del cuello-hombro relacionados con el trabajo son un importante problema de salud. El objetivo de este estudio es establecer el patrón de dolor y discapacidad cervical de trabajadores con pantallas de visualización de datos, así como determinar los factores que predominan en la aparición de un nuevo episodio de dolor de espalda. Se realizó un estudio descriptivo-correlacional, en una muestra de 88 trabajadores usuarios de ordenadores de la Consellería de Sanidade (Xunta de Galicia). Los trabajadores respondieron los cuestionarios: "Neck Disability Index", "Escala analógica visual", "12-item Short Form Health Survey" y se realizó un análisis postural. Para el análisis comparativo se realizaron las pruebas T Student y U de Mann-Whitney. Un análisis de regresión logística binaria se utilizó para la extracción de un modelo predictivo de episodio de dolor cervical. El 58% refirieron dolor cervical. No existieron diferencias significativas entre hombres y mujeres. Las variables que mejor predicen la aparición de un nuevo episodio de dolor son el nivel de discapacidad y la calidad de vida física. Los resultados indican que un trabajador con altos niveles de discapacidad cervical y bajos valores de calidad de vida física, tiene mayor probabilidad de sufrir un episodio de dolor.

Abstract Work-related neck/shoulder disorders are considered an important health issue. This study is aimed at establishing the pain and cervical disability patterns of workers with visual display terminals, as well as at determining the factors that mostly affect the onset of a new episode of back pain. A descriptive, correlational study was carried out on a sample of 88 workers who use visual display terminals, of the Ministry of Health (Xunta de Galicia). The workers completed the following questionnaires: "Neck Disability Index Scale," "Visual Analog Scale," "12-item Short Form Health Survey," and an individual postural analysis was conducted. For the comparative analysis, the Student's t-test, and the Mann-Whitney U test were performed. A binary logistic regression analysis was used to extract a predictive model of a cervical pain episode, and 58% reported cervical pain. There were no differences between men and women. The variables that best predict the onset of a new episode of pain are the level of disability, and the quality of physical life. Study results indicate that a worker who uses visual display terminals, with high levels of cervical disability and low values of physical quality of life, is more likely to suffer an episode of back pain.

Características epidemiológicas de los pacientes atendidos por COVID-19 en el Servicio de Emergencia del Hospital Militar Central Luis Arias Schreiber

Objetivo: Determinar las características epidemiológicas de los pacientes atendidos por COVID-19 en el Servicio de Emergencia del Hospital Militar Central Luis Arias Schreiber en el periodo julio a octubre del 2020. Materiales y métodos: Se realizó un estudio observacional, transversal y descriptivo. Fueron evaluados 89 pacientes que tenían un resultado positivo en una prueba molecular y/o rápida para SARS-CoV-2. La información se recogió del reporte diario de los pacientes hospitalizados en el Servicio de Emergencia del hospital en el periodo de julio a octubre de 2020. Los resultados fueron procesados con el paquete estadístico SPSS V 25.0. Resultados: El sexo masculino fue el más afectado por la COVID-19 (84,27 %). El rango de edad con mayor número de casos fue de 50 a 59 años (34,83 %). El porcentaje más alto de muertes se encontró en el grupo de los mayores de 70 años; y el 71,43 % de los fallecidos fueron mujeres. Las comorbilidades se reportaron a partir de los 40 años, y el 67,41 % de pacientes presentó al menos una de ellas. La obesidad fue la comorbilidad más frecuente, seguida por la hipertensión arterial y la diabetes mellitus tipo 2. El 67,41 % de pacientes usaron ventilación no invasiva y la mayoría fueron hospitalizados. El 21,34 % de pacientes requirió ventilación mecánica y el 68,42 % fueron internados en la unidad de cuidados intensivos. Conclusiones: Las características de mayor prevalencia en los pacientes con COVID-19 son el sexo masculino, la edad entre 50 y 59 años y la obesidad. Asimismo, el empleo de la ventilación no invasiva tuvo mejor pronóstico que el uso de la ventilación invasiva.

Objective: To determine the epidemiological characteristics of COVID-19 patients treated at the Emergency Department of the Hospital Militar Central Luis Arias Schreiber from July to October 2020. Materials and methods: A descriptive, observational and cross-sectional study was carried out with 89 patients who tested positive for SARS-CoV-2 on molecular and/or rapid tests. The information was collected from the daily progress report of the patients treated at the hospital's Emergency Department from July to October 2020. The results were processed using the IBM SPSS Statistics V25.0. Results: Males were more likely to test positive for COVID-19 (84.27 %). Most cases occurred in patients aged between 50 and 59 (34.83 %). The highest percentage of deaths was found in patients older than 70 years, out of whom 71.43 % were females. Comorbidities were reported in patients aged 40 and older, out of whom 67.41 % had at least one of them. Obesity was the most frequent comorbidity, followed by hypertension and type 2 diabetes mellitus. Sixty-seven point four one percent (67.41 %) of the patients required non-invasive ventilation and most of them were hospitalized. Twenty-one point three four percent (21.34 %) of the patients required mechanic ventilation and 68.42 % were admitted to the intensive care unit. Conclusions: The most common characteristics of COVID-19 patients are male sex, ages between 50 and 59 years old, and obesity. Additionally, using non-invasive ventilation had a better prognosis than using mechanical ventilation.

Epidemiological and clinical aspects of Guillain-Barré syndrome and its variants / Aspectos epidemiológicos e clínicos da síndrome de Guillain-Barré e suas variantes

Abstract Background: Guillain-Barré syndrome (GBS), an acute polyradiculoneuropathy that occurs because of an abnormal inflammatory response in the peripheral nervous system, is clinically characterized by acute flaccid paresis and areflexia with or without sensory symptoms. This syndrome can lead to disabling or even life-threatening sequelae. Objective: This study aimed to present the clinical and epidemiological aspects of GBS in patients admitted to a tertiary-level hospital in the Federal District between January 2013 and June 2019. Methods: In this observational, cross-sectional and retrospective study, medical records of patients diagnosed with acute inflammatory demyelinating polyradiculoneuropathy, acute motor axonal neuropathy or acute axonal motor-sensitive neuropathy based on electromyographic findings were included, and clinical data were collected retrospectively. Results: A total of 100 patients (63 males and 37 females; ratio, 1.7:1) aged 2-86 years (mean, 36.4 years) were included. The mean annual incidence rate of GBS was 0.54 cases/100,000 inhabitants, with 52 and 49% of the cases occurring between October and March (rainy season) and between April and September (dry season), respectively. The proportions of patients showing each GBS variant were as follows: demyelinating forms, 57%; axonal forms, 39%; and undetermined, 4%. The mean duration of hospitalization was 8-15 days for most patients (38%). During hospitalization, 14% of the patients required mechanical ventilation and 20% experienced infectious complications. Conclusion: The findings indicate that there was an increase in the incidence of GBS during the rainy season. Moreover, we did not observe the typical bimodal distribution regarding age at onset.

RESUMO Introdução: Síndrome de Guillain-Barré (SGB), uma polirradiculoneuropatia aguda que ocorre devido a uma resposta inflamatória anormal no sistema nervoso periférico, é caracterizada clinicamente por paralisia flácida aguda e arreflexia, com ou sem sintomas sensitivos. Essa síndrome pode deixar sequelas incapacitantes ou até ameaçar a vida. Objetivo: Apresentar os aspectos clínicos e epidemiológicos da SGB em pacientes internados em um hospital terciário do Distrito Federal, no período de janeiro/2013 a junho/2019. Métodos: Estudo observacional, transversal e retrospectivo, no qual pacientes com diagnóstico de polirradiculoneuropatia desmielinizante inflamatória aguda, neuropatia axonal motora aguda ou neuropatia axonal sensitivo motora aguda a partir dos achados eletroneuromiográficos foram selecionados e seus dados clínicos coletados retrospectivamente em seus prontuários. Resultados: Um total de 100 pacientes (63 homens e 37 mulheres; proporção de 1,7:1), com idades entre 2-86 anos (média, 36,4 anos), foram incluídos. A taxa média anual de incidência de SGB foi de 0,54 casos/100.000 habitantes, com 52 e 49% dos casos ocorrendo entre outubro e março (período chuvoso) e entre abril e setembro (período seco), respectivamente. A proporção de pacientes que apresentaram cada variante de SGB foi a seguinte: formas desmielinizantes, 57%; formas axonais, 39%; e indeterminado, 4%. A duração média da hospitalização foi de 8‒15 dias para a maioria dos pacientes (38%). Durante a hospitalização, 14% dos pacientes necessitaram de ventilação mecânica e 20% apresentaram complicações infecciosas. Conclusão: Os resultados indicam aumento na incidência de GBS durante a estação chuvosa. Além disso, não observamos a distribuição bimodal típica em relação à idade de início.

Ultrasound criteria (EU-TIRADS) to identify thyroid nodule malignancy risk in adolescents. Correlation with cyto-histological findings. / Criterios ecográficos (EU-TIRADS) para identificar el riesgo de malignidad de los nódulos tiroideos en adolescentes. Correlación con los hallazgos cito-histológicos.

INTRODUCTION: Thyroid nodule (TN) harboring a thyroid carcinoma are more common in pediatric than adult patients. In pediatric population, the evaluation of a TN should require specific pediatric tools for its diagnostic and therapeutic management. High-resolution ultrasonography and cytological evaluation after fine-needle aspiration biopsy (FNAB) remain the cornerstones of evaluation of TN. OBJECTIVES: To evaluate in pediatric TN for the first time the usefulness and precision of the ultrasound criteria defined by the"Thyroid Imaging Reporting and Data System (EU-TIRADS) 2017 in adults" to establish the ultrasound indication for the practice of FNAB and stratify the risk of malignancy. PATIENTS AND METHODS: 24 pediatric patients under age 18 years with thyroid nodules were attended in the last 15 years, 24 of them (31 nodules; age: 15.2 ± 2.2 years; 18 women) met the inclusion criteria: FNAB with Bethesda classification and ultrasound with EU-TIRADS score. EU-TIRADS score were evaluated retrospectively. Fourteen patients underwent surgery and the definitive histological diagnosis was obtained, this allowed the calculations of sensitivity, specificity and positive and negative predictive values of the EU-TIRADS and Bethesda classification. Data on the largest diameters of the nodules were collected. RESULTS: Of the overall 31 nodules, the distribution by EU-TIRADS (T) category was: T1 (3.2%), T2: 2 (6.4%), T3: 7 (22.6%), T4: 16 (51.6%) and T5: 5 (16.1%). All malignant nodules were included in EU-TIRADS category 4 or 5. By the other hand, 13 of the 25 benign nodules were also included in the EU-TIRADS 4 category, and one in the 5. The distribution by categories of Bethesda's classification (B): BI: 6 (19.4%), BII: 14 (45.2%), BIII: 5 (16.1%), BIV: 2 (6.5%), BV: 0 and BVI: 4 (12.9%). The pathological diagnosis of the 14 patients who underwent surgery was: 6 papillary carcinomas and 8 with benign lesions: 6 nodular hyperplasia and 2 follicular adenoma. The percentage of malignancy was 42%. The sensitivity of the EU-TIRADS classification to detect malignant nodules was 100%, the specificity was 25%, PPV 44% and NPV 100%. The sensitivity of the Bethesda classification to detect malignant nodules was 86%, the specificity was 75%, PPV 67% and NPV 90%. The analysis of the largest diameter of the nodules did not show statistically significant differences between benign and malignant lesions. CONCLUSIONS: EU-TIRADS for ultrasonographic criteria classification in combination with the clinical history is an adequate and reproducible method to estimate suspicion of malignancy of pediatric TN. It is also a reliable diagnostic tool to decide which nodules will be candidates for FNAB.

Contribution of phosphorus and PTH to the development of cardiac hypertrophy and fibrosis in an experimental model of chronic renal failure. / Contribución de fósforo y PTH al desarrollo de hipertrofia y fibrosis cardíaca en un modelo experimental de insuficiencia renal crónica.

BACKGROUND AND OBJECTIVE: Adequate serum phosphorus levels in patients with chronic kidney disease is essential for their clinical management. However, the control of hyperphosphatemia is difficult because is normally associated with increases in serum PTH. In the present study, the effects of hyperphosphatemia, in the presence of elevated and normal PTH, on cardiac inflammation, hypertrophy and fibrosis in an experimental renal failure model were analyzed. MATERIALS AND METHODS: Four groups of rats were formed. Two groups underwent total parathyroidectomy (PTx). Rats with Ca < 7.5 mg/dL and PTH < 50 pg/mL underwent 7/8 nephrectomy (CRF) and a subcutaneous pellet was placed that releases PTH 1-34 (5 µg/kg/day). One group received a diet with normal P (NP) (CRF + PTx + rPTH + NP group) and another with a high P diet (0.9% HP) (CRF + PTx + rPTH + HP group). Other two groups that only had CRF received NP (CRF + NP) and HP (CRF + HP) diet. A SHAM group for nephrectomy and parathyroidectomy was also added. After 14 weeks the rats were sacrificed. RESULTS: The groups with a diet high in phosphorus (CRF + H A and CRF + PTx + rPTH + HP) had a significant reduction in creatinine clearance and also in body weight with an increase in serum phosphorus regardless of parathyroidectomy, but not serum levels of calcium, FGF23 and calcitriol that were 2-3 times higher in the group with secondary hyperparathyroidism (CRF + HP). The diameter of the cardiomyocytes was greater in the CRF + HP group, while parathyroidectomy (CRF + PTx + rPTH + HP) significantly reduced them, despite the high and similar serum phosphorus values. TNF-α, Adam17 and cardiac fibrosis at the histological and molecular level showed a similar pattern with increases in the group with severe secondary hyperparathyroidism (CRF + HP). CONCLUSIONS: Hyperphosphatemia confirmed its importance in the genesis of secondary hyperparathyroidism, but also of kidney damage that was independent of PTH levels. However, inflammation, fibrosis, and cardiomyocyte growth were more closely related to PTH levels, since in the presence of similar severe hyperphosphatemia, parathyroidectomy reduced the values of inflammatory parameters, cardiac hypertrophy, and fibrosis.

Contribution of phosphorus and PTH to the development of cardiac hypertrophy and fibrosis in an experimental model of chronic renal failure.

BACKGROUND AND OBJECTIVE: Adequate serum phosphorus levels in patients with chronic kidney disease is essential for their clinical management. However, the control of hyperphosphatemia is difficult because is normally associated with increases in serum PTH. In the present study, the effects of hyperphosphatemia, in the presence of elevated and normal PTH, on cardiac inflammation, hypertrophy and fibrosis in an experimental renal failure model were analyzed. MATERIALS AND METHODS: 4 groups of rats were formed. Two groups underwent total parathyroidectomy (PTx). Rats with Ca <7.5 mg/dL and PTH < 50 pg/mL underwent 7/8 nephrectomy (CRF) and a subcutaneous pellet was placed that releases PTH 1-34 (5 µg/kg/day). One group received a diet with normal P (NP) (CRF + PTx + rPTH + NP group) and another with a high P diet (0.9% - HP) (CRF + PTx + rPTH + HP group). Other 2 groups that only had CRF received NP (CRF + NP) and HP (CRF + HP) diet. A SHAM group for nephrectomy and parathyroidectomy was also added. After 14 weeks the rats were sacrificed. RESULTS: The groups with a diet high in phosphorus (CRF + H A and CRF + PTx + rPTH + HP) had a significant reduction in creatinine clearance and also in body weight with an increase in serum phosphorus regardless of parathyroidectomy, but not serum levels of calcium, FGF23 and calcitriol that were 2-3 times higher in the group with secondary hyperparathyroidism (CRF + HP). The diameter of the cardiomyocytes was greater in the CRF + HP group, while parathyroidectomy (CRF + PTx + rPTH + HP) significantly reduced them, despite the high and similar serum phosphorus values. TNF-α, Adam17 and cardiac fibrosis at the histological and molecular level showed a similar pattern with increases in the group with severe secondary hyperparathyroidism (CRF + HP). CONCLUSIONS: Hyperphosphatemia confirmed its importance in the genesis of secondary hyperparathyroidism, but also of kidney damage that was independent of PTH levels. However, inflammation, fibrosis, and cardiomyocyte growth were more closely related to PTH levels, since in the presence of similar severe hyperphosphatemia, parathyroidectomy reduced the values ​​of inflammatory parameters, cardiac hypertrophy, and fibrosis.

[50 years of the Neonatal Screening Program in Catalonia.] / 50 años del Programa de Cribado Neonatal en Cataluña.

The Catalonian Newborn Screening Program (CNSP) began in 1969, in Barcelona. It was promoted by Dr. Juan Sabater Tobella and supported by Barcelona Provincial Council and Juan March Foundation. That is how the Institute of Clinical Biochemistry was born, whose aims were diagnosis, research and teaching, along with the spirit of contributing to the prevention of mental retardation. The CNSP began with the detection of phenylketonuria (PKU), and, in 1982, the Program was expanded with the inclusion of congenital hypothyroidism detection. Towards 1990, the Program covered almost 100% of all newborns (NB) in Catalonia. In 1999, the CNSP was expanded with the incorporation of cystic fibrosis. It took fourteen years, until 2013, to make the largest expansion so far, with the incorporation of 19 metabolic diseases to the screening panel. The detection of sickle cell disease began in 2015 and in 2017 the detection of severe combined immunodeficiency was included. Currently, the CNSP includes 24 diseases in its main panel. Since 1969, 2,787,807 NBs have been screened, of whom 1,724 have been diagnosed with any of these diseases, and 252 of other disorders by differential diagnosis with those included in the main panel. The global prevalence is 1: 1,617 NBs affected by any of the diseases included in the CNSP and 1: 1,140 NBs if incidental findings diagnosed through the CNSP are included.

El Programa de Cribado Neonatal de Cataluña (PCNC) se inició en el año 1969, en Barcelona, impulsado por el Dr. Juan Sabater Tobella y apoyado por la Diputación de Barcelona y la Fundación Juan March. Así nació el Instituto de Bioquímica Clínica para acometer funciones asistenciales, de investigación y docencia, con el espíritu de contribuir a la prevención del retraso mental. El PCNC se inició con la detección de la fenilcetonuria (PKU) y en el año 1982 se amplió con la detección del hipotiroidismo congénito. Hacia el año 1990 la cobertura territorial llegó casi al 100% de todos los recién nacidos en Cataluña. En 1999 se amplió el PCNC con la incorporación de la fibrosis quística y tras catorce años, en 2013, se realizó la ampliación más numerosa hasta ahora, con la incorporación de la detección de 19 enfermedades metabólicas hereditarias. En el año 2015 comenzó la detección de la enfermedad de células falciformes y en el 2017 la detección de la inmunodeficiencia combinada grave. Actualmente, el PCNC incluye la detección de 24 enfermedades. Desde su inicio en el año 1969, se han cribado 2.787.807 recién nacidos, de los cuales 1.724 han sido diagnosticados de alguna de las 24 enfermedades que componen nuestro panel principal y 252 por diagnóstico diferencial de las primeras. En total la prevalencia global es de 1:1.617 RN afectos de alguna de las enfermedades incluidas en el PCNC y de 1:1.140 RN si se incluyen los hallazgos incidentales encontrados.