Scientific output on validation and adaptation of depression screening instruments in peruvian population. / Producción científica sobre validación y adaptación de instrumentos de tamizaje de la depresión en población peruana.

The aim of the research was to describe the scientific output of psychometric studies on screening instruments for depression in the Peruvian population. We carried out a descriptive study of the scientific literature in Scopus, Web of Science, PubMed and SciELO, with descriptors for depression, psychometric properties, and Peru. After the review process, we included 22 studies. We found validations of screening instruments for older adults, adults, adults with depression, adult women, pregnant women, health professionals, university students, high school students and children. The Patient Health Questionnaire (PHQ-9) was the most widely used instrument. Psychometric studies cover most populations; however, native people and clinical populations remain to be studied. The PHQ-9, due to its characteristics, could be implemented in mental health policies in Peru.

El objetivo de la investigación fue describir la producción científica sobre estudios psicométricos de instrumentos de tamizaje para la depresión en población peruana. Para ello, se realizó un estudio descriptivo de la literatura científica en Scopus, Web of Science, PubMed y SciELO, con descriptores para depresión, propiedades psicométricas y Perú. Luego del proceso de revisión se incluyeron 22 estudios. Se encontraron validaciones de instrumentos de tamizaje en adultos mayores, adultos, adultos con depresión, mujeres adultas, mujeres embarazadas, profesionales de salud, estudiantes universitarios, estudiantes de secundaria y niños. El Patient Health Questionnaire (PHQ-9) fue el instrumento más estudiado. A pesar de que los estudios psicométricos cubren la mayoría de las poblaciones, quedan pendientes los pueblos originarios y poblaciones clínicas. El PHQ-9, por sus características, podría implementarse en las políticas de salud mental del Perú.

Manejo de cetoacidose diabética: revisão sistemática / Management of diabetic ketoacidosis: a systematic review / Manejo de la cetoacidosis diabética: una revisión sistemática

Introdução: A cetoacidose diabética ocorre devido à diminuição da insulina no plasma, associada a elevação de hormônios contrarreguladores. A doença pode se apresentar como quadro inicial do diabetes tipo 1 ou como pouca concordância com a terapia de insulina administrada ao paciente já diagnosticado, com diabetes mellitus tipo 1 ou 2, insulino-dependente. São sintomas associados à desordem insulínica: vômitos, dor abdominal, diarreia, polidipsia, poliúria, polifagia, perda de peso e cefaleia. Métodos: Estudo de Revisão Sistemática da literatura, guiada pelos critérios PRISMA, realizada nas bases de dados: PubMed, Lilacs, SciELO, UpToDate e MedLine, por meio da Biblioteca Virtual em Saúde (BVS) e Portal de Periódicos da Capes, com uso dos descritores "diabetic ketoacidosis" e "management", em artigos publicados entre 2016 e 2021. Resultados: Foram identificados 4942 estudos, sendo incluídos 21 na síntese qualitativa e quantitativa, seguindo os critérios de inclusão e exclusão. Discussão: Foi dividida em 7 etapas, sendo elas: critérios clínicos, reposição de fluídos, administração de insulina, medição de glicose, medição de cetonas, gasometria arterial, reposição de eletrólitos e encaminhamento para serviço especializado. Conclusão: Sendo uma condição grave, deve ser rapidamente diagnosticada, pois o tratamento deve ser imediato com base em guidelines para evitar complicações graves

Introduction: Diabetic ketoacidosis occurs due to the decrease of insulin in plasma, associated with elevation of counter-regulatory hormones. The disease may present as the initial picture of type 1 diabetes or as little agreement with insulin therapy administered to the already diagnosed patient, with insulin-dependent diabetes mellitus type 1 or 2. Symptoms are associated with insulin disorder: vomiting, abdominal pain, diarrhea, polydipsia, polyuria, polyphagia, weight loss and headache. Methods: Systematic Review of the literature, guided by the PRISMA criteria, conducted in the databases: PubMed, Lilacs, SciELO, uptodate and Medline, through the Virtual Health Library (VHL) and Portal of Capes Journals, using the descriptors "diabetic ketoacidosis" and "management", in articles published between 2016 and 2021. Results: 4942 studies were identified and 21 were included in the qualitative and quantitative synthesis, following the inclusion and exclusion criteria. Discussion: It was divided into 7 stages: clinical criteria, fluid replacement, insulin administration, glucose measurement, ketone measurement, blood gas, electrolyte replacement and referral to specialized service. Conclusion: Being a serious condition, it should be quickly diagnosed, because the treatment should be immediate based on guidelines to avoid serious complications

Introducción: La cetoacidosis diabética se produce por una disminución de la insulina plasmática, asociada a un aumento de las hormonas contrarreguladoras. La enfermedad puede presentarse como un cuadro inicial de diabetes tipo 1 o como poca concordancia con la terapia con insulina administrada a pacientes ya diagnosticados con diabetes mellitus tipo 1 o 2 insulinodependiente. Los síntomas asociados con el trastorno de la insulina son: vómitos, dolor abdominal, diarrea, polidipsia, poliuria, polifagia, pérdida de peso y dolor de cabeza. Métodos: Revisión sistemática de la literatura guiada por los criterios PRISMA. Conservados en las siguientes bases de datos: PubMed, Lilacs, SciELO, UpToDate y MedLine, a través de la Biblioteca Virtual en Salud (BVS) y el Portal de la Revista Capes, utilizando los descriptores "cetoacidosis diabética" y "manejo", en artículos publicados entre 2016 y 2021. Resultados: Se identificaron 4942 estudios, de los cuales 21 fueron incluidos en la síntesis cualitativa y cuantitativa, siguiendo los criterios de inclusión y exclusión. Discusión: Se dividió en 7 etapas, a saber: criterios clínicos, reposición de líquidos, administración de insulina, medición de glucosa, medición de cenones, gases arteriales y reposición de electrolitos y derivación a un servicio especializado. Conclusión: Al ser una condición grave, debe ser diagnosticada rápidamente, ya que el tratamiento debe ser inmediato con base en las pautas y para evitar complicaciones graves.

Producción científica sobre validación y adaptación de instrumentos de tamizaje de la depresión en población peruana / Scientific output on validation and adaptation of depression screening instruments in peruvian population

RESUMEN: El objetivo de la investigación fue describir la producción científica sobre estudios psicométricos de instrumentos de tamizaje para la depresión en población peruana. Para ello, se realizó un estudio descriptivo de la literatura científica en Scopus, Web of Science, PubMed y SciELO, con descriptores para depresión, propiedades psicométricas y Perú. Luego del proceso de revisión se incluyeron 22 estudios. Se encontraron validaciones de instrumentos de tamizaje en adultos mayores, adultos, adultos con depresión, mujeres adultas, mujeres embarazadas, profesionales de salud, estudiantes universitarios, estudiantes de secundaria y niños. El Patient Health Questionnaire (PHQ-9) fue el instrumento más estudiado. A pesar de que los estudios psicométricos cubren la mayoría de las poblaciones, quedan pendientes los pueblos originarios y poblaciones clínicas. El PHQ-9, por sus características, podría implementarse en las políticas de salud mental del Perú.

ABSTRACT The aim of the research was to describe the scientific output of psychometric studies on screening instruments for depression in the Peruvian population. We carried out a descriptive study of the scientific literature in Scopus, Web of Science, PubMed and SciELO, with descriptors for depression, psychometric properties, and Peru. After the review process, we included 22 studies. We found validations of screening instruments for older adults, adults, adults with depression, adult women, pregnant women, health professionals, university students, high school students and children. The Patient Health Questionnaire (PHQ-9) was the most widely used instrument. Psychometric studies cover most populations; however, native people and clinical populations remain to be studied. The PHQ-9, due to its characteristics, could be implemented in mental health policies in Peru.

Bibliometric Analysis and Review of Literature on the Relationship Between Voice Production and Bilingualism.

BACKGROUND: The spoken language may influence the way we produce our voice. Therefore, speak more than one language could affect voice production. However, there is limited evidence on the relationship between voice production and bilingualism. AIM: To characterize the relationship between bilingualism and voice production determined by means of voice acoustic parameters and voice perception. METHODS: A review of literature was performed using four computerized databases. The keywords used were voice, bilingualism, and multilingualism. Relevant data were extracted from the publications on country and year of study, participants, sample size, characterization of voice production (acoustics, perceptual), and languages. A bibliometric analysis was performed for co-occurrence analysis. Quality assessment was conducted with the EPHPP tool. RESULTS: A total of 10 publications met our inclusion criteria. Nine of the articles compared English productions with another language. Included studies reported changes in fundamental frequency between English and Spanish, Cantonese Chinese, Mandarin, Russian, Finnish, Arabic, Korean, Welsh, and Hebrew. The co-occurrence analysis shows that fundamental frequency is the most reported parameter, and English is the most compared language among studies including bilingual speakers. CONCLUSION: Speaking a second language influences voice production determined by voice acoustic parameters, such as fundamental frequency. Therefore, language may be an important factor to take into consideration when planning assessment and intervention programs on the field of voice.

Obesidade infantil: recomendações para orientação inicial / Childhood obesity: recommendation for initial guidance / Obesidad infantil: recomendaciones para orientación inicial

Introdução: A obesidade infantil é definida como o acúmulo excessivo de gordura no organismo, com origem atribuída a causas multifatoriais e o método mais utilizado para sua medição é o Índice de Massa Corporal. Segundo estudos do Ministério da Saúde do Brasil, uma em cada três crianças brasileiras está acima do peso. Diante do atual cenário, em que muitas crianças vivem em ambientes obesogênicos, torna-se evidente a importância da conscientização sobre obesidade infantil. Objetivos e Método: Para guiar os profissionais de saúde na orientação sobre as consequências da obesidade, alimentação e os hábitos de vida adequados à prevenção, foram levantadas as recomendações dos principais órgãos nacionais: Associação Brasileira para estudos da Obesidade e Síndrome Metabólica, Sociedade Brasileira de Pediatria, Sociedade Brasileira de Endocrinologia e Metabologia, e mundial, como a Organização Mundial da Saúde, além de literatura disponível. Resultados: Foram resumidas as recomendações para que profissionais de saúde iniciem a orientação dos responsáveis pelo paciente durante uma primeira consulta ambulatorial. Estas são: esclarecimento sobre as consequências e comorbidades da obesidade, como diabetes, dislipidemias, doença cardiovascular, câncer; estímulo ao aleitamento materno, em especial nos primeiros seis meses de vida; importância do envolvimento da família e da escola no estímulo à ingestão de alimentos saudáveis e aumento de atividade física recreativa; diminuição de tempo de tela, diminuição do consumo de alimentos processados; higiene do sono; e orientação nutricional básica. Conclusão: Dessa forma, aproveitar a consulta ambulatorial em Pediatria pode ser uma estratégia para abordagem adequada da obesidade infantil.(AU)

Introduction: Childhood obesity is defined as the excessive amount of fat in the organism, which origin is associated to multifactorial causes and the most used method to its measurement is the Body Mass Index. According to Brazil's Health Ministry's studies, one among three Brazilian children is overweight. Facing the current scenario, with several children living in obesogenic environments, it is evident the importance of conscientization about childhood obesity. Objectives and Method: In order to guide healthcare professionals during orientation about the consequences of obesity, adequate food and lifestyle to prevent it, recommendations were raised from the main Brazilian health organizations: Brazilian Association for Studies of Obesity and Metabolic Syndrome, Brazilian Society of Pediatrics, Brazilian Society of Endocrinology and Metabolism; and global, such as the World Health Organization, beyond available literature. Results: The recommendations were summarized for healthcare professionals to start orientating the patient's parents during the first outpatient appointment. They approach: elucidation about obesity's consequences and comorbidities, such as diabetes, dyslipidemias, cardiovascular disease, cancer; stimulating breastfeeding, especially during the first six months of life; importance of family and school's encouragement to children to ingest healthy food and to practice recreational physical activities; decreasing screen time; decreasing processed food; sleep hygiene; and basic nutritional orientation. Conclusion: Therefore, utilizing Pediatric's outpatient appointment may be a good strategy for an adequate approach of childhood obesity.(AU)

Introducción: La obesidad infantil se define como la acumulación excesiva de grasa en el organismo, con origen atribuido a causas multifactoriales y el método más utilizado para su medición es el Índice de Masa Corporal. Según estudios del Ministerio de Salud de Brasil, uno de cada tres niños brasileños tiene sobrepeso. Ante el escenario actual, en el que muchos niños viven en ambientes obesogénicos, se hace evidente la importancia de la conciencia sobre la obesidad infantil. Objetivos y Método: Con el fin de orientar a los profesionales de la salud en la orientación sobre las consecuencias de la obesidad, la alimentación y los hábitos de vida adecuados para la prevención, se plantearon las recomendaciones de los principales organismos nacionales: Asociación Brasileña de Estudios sobre Obesidad y Síndrome Metabólico, Sociedad Brasileña de Pediatría, Sociedad Brasileña de Endocrinología y Metabología, y en todo el mundo, como la Organización Mundial de la Salud, además de la literatura disponible. Resultados: Se resumieron las recomendaciones para que los profesionales de la salud comiencen a orientar a los responsables del paciente durante una primera consulta externa. Estos son: aclaración sobre las consecuencias y comorbilidades de la obesidad, como diabetes, dislipidemia, enfermedades cardiovasculares, cáncer; fomentar la lactancia materna, especialmente en los primeros seis meses de vida; la importancia de la participación de la familia y la escuela para fomentar la ingesta de alimentos saludables y una mayor actividad física recreativa; disminución del tiempo de pantalla, disminución del consumo de alimentos procesados; higiene del sueño; y orientación nutricional básica. Conclusión: Así, aprovechar la consulta externa en Pediatría puede ser una estrategia para un abordaje adecuado de la obesidad infantil.(AU)

Association of all forms of malnutrition and socioeconomic status, educational level and ethnicity in Colombian children and non-pregnant women.

OBJECTIVE: To examine the association of all forms of malnutrition and socioeconomic status (SES), educational level and ethnicity in children <5 years, non-pregnant adolescent women (11-19 years) and non-pregnant adult women (20-49 years) in Colombia. DESIGN: Cross-sectional analysis of data from the 2010 Colombian National Nutrition Survey. The prevalence of malnutrition was compared across categories of SES, educational level and ethnicity. SETTING: Colombia. PARTICIPANTS: The sample for the current analysis comprised children <5 years, non-pregnant adolescent women (11-19 years) and non-pregnant adult women (20-49 years). RESULTS: In children <5 years, a low SES and maternal educational level were significantly associated with a lower prevalence of overweight/obesity compared with high levels of SES and maternal education, that is, the prevalence of overweight/obesity was 1·4 and 1·6 times lower in categories of low SES and educational levels, respectively. In contrast, the prevalence of wasting, stunting and anaemia was higher in the lowest SES and maternal educational categories (the prevalence was between 1·1 and 1·8 times higher for these indicators). In women, the lowest SES (11 and 19 years) and educational levels (20 and 49 years) exhibited a higher prevalence in all forms of malnutrition compared with their counterparts in the highest categories (i.e. overweight/obesity, stunting and anaemia). Additionally, indigenous or Afro-Colombian children and women had the highest prevalence of malnutrition in comparison with other ethnicities. CONCLUSIONS: These results suggest that public policies should address all forms of malnutrition that occur in the most vulnerable populations in Colombia using multiple strategies.

Elaboração de protocolo de investigação de neuropatia periférica em pacientes diabéticos / Elaboration of a protocol for peripheral neuropathy investigation in diabetic patients / Elaboración de protocolo de investigación de neuropatía periférica en pacientes diabéticos

Introdução: A neuropatia distal diabética é uma das principais complicações do diabetes mellitus, acometendo metade dos pacientes com diabetes, e pode ser a causa de deformidades, úlceras e amputações. Mais de 70% dos pacientes com pé diabético apresentam neuropatias. A investigação e o reconhecimento precoce da presença da neuropatia distal diabética são importantes, pois permitem detectar pacientes que apresentam neuropatia distal diabética, que podem evoluir para úlcera e/ou amputação...(AU)

Introduction: Diabetic distal neuropathy is one of the main complications of diabetes mellitus, affecting half of diabetes patients, and may be the cause of deformities, ulcers and amputations. More than 70% of diabetic foot patients have neuropathies. Investigation and early recognition of the presence of diabetic distal neuropathy is important because it allows the detection of patients with diabetic distal neuropathy, which may progress to ulcer and / or amputation ... (AU)

Introducción: la neuropatía distal diabética es una de las principales complicaciones de la diabetes mellitus, afecta a la mitad de los pacientes con diabetes y puede ser la causa de deformidades, úlceras y amputaciones. Más del 70% de los pacientes con pie diabético tienen neuropatías. La investigación y el reconocimiento temprano de la presencia de neuropatía distal diabética es importante porque permite la detección de pacientes con neuropatía distal diabética, que puede progresar a úlcera y / o amputación ... (AU)

Caracterización de 130 pacientes sometidos a gastrectomía por cáncer gástrico en el Instituto de Cancerología-Clínica Las Américas de Medellín / Characteristics of 130 patients who underwent gastrectomy for gastric cancer in the Instituto de Cancerología-Clínica Las Américas Medellín

Objetivo: Describir las características sociodemográficas, clínicas e histopatológicas de pacientes con cáncer gástrico y su supervivencia a 1, 3 y 5 años luego de ser sometidos a gastrectomía en el Instituto de Cancerología (IDC)---Las Américas de Medellín entre el 2006 y 2011. Métodos: Se hizo una descripción retroprospectiva de pacientes diagnosticados con adenocarcinoma gástrico en un período de 5 años, usando estadísticas descriptivas y el método de Kaplan-Meier para estimar la supervivencia. Resultados: Se incluyeron 130 pacientes con una edad promedio de 62,2 años y la mayoría residentes en el Valle de Aburrá (78,5%). El tipo de cáncer más frecuente fue el intestinal (52%), con un alto predominio del tipo difuso; 30% de los pacientes tenía Helicobacter pylori, 20% de ellos tenía antecedentes familiares de cáncer gástrico y 35% eran tipo células en anillo de sello. Se realizó gastrectomía subtotal al 64% y el 47% recibió quimioterapia adyuvante. La supervivencia global fue del 81%, 54% y 48% a 1, 3 y 5 años, con mayor supervivencia en los pacientes menores de 55 años con cáncer de tipo difuso. Conclusiones: Los resultados de este estudio describen la presencia de cáncer gástrico usualmente en hombres, adultos mayores y de áreas montañosas, con algunos factores asociados como el antecedente familiar en primer grado y la presencia de H. pylori.

Objective: To describe the sociodemographic, clinical and histopathology characteristics of patients with gastric cancer and their survival at 1, 3 and 5 years after undergoing gastrectomy in the Instituto de Cancerología (IDC)-Las Américas between 2006 and 2011. Methods: A descriptive, retrospective and prospective study was conducted with patients diagnosed with gastric adenocarcinoma during a period of five years. An analysis was performed using descriptive statistics and the Kaplan-Meier method to estimate survival. Results: The study included 130 patients, with a mean age of 62.2 years, and the majority (78.5%) were residents in the Valle de Aburrá. The most common histological finding was the intestinal type (52%), with a high frequency of diffuse type. Helicobacter pyloriwas found in 30% of patients, 20% of them had a family history of gastric cancer, and 35% were signet ring cells type. Subtotal gastrectomy was performed on 64%, and 47% required adjuvant chemotherapy. Overall survival was 81%, 54%, and 48% at 1, 3 and 5 years, respectively, with longer survival in patients younger than 55 years with diffuse type of cancer. Conclusions: The results of this study describe the presence of gastric cancer, more often in men, older adults, and mountainous area residents, with associated factors such as first-degree family history and the presence of H. pylori.

Baseline characteristics and risk factors for ulcer, amputation and severe neuropathy in diabetic foot at risk: the BRAZUPA study.

BACKGROUND: Studies on diabetic foot and its complications involving a significant and representative sample of patients in South American countries are scarce. The main objective of this study was to acquire clinical and epidemiological data on a large cohort of diabetic patients from 19 centers from Brazil and focus on factors that could be associated with the risk of ulcer and amputation. METHODS: This study presents cross sectional, baseline results of the BRAZUPA Study. A total of 1455 patients were included. Parameters recorded included age, gender, ethnicity, diabetes and comorbidity-related records, previous ulcer or amputation, clinical symptomatic score, foot classification and microvascular complications. RESULTS: Patients with ulcer had longer disease duration (17.2 ± 9.9 vs. 13.2 ± 9.4 years; p < 0.001), and poorer glycemic control (HbA1c 9.23 ± 2.03 vs. 8.35 ± 1.99; p < 0.001). Independent risk factors for ulcer were male gender (OR 1.71; 95 % CI 1.2-3.7), smoking (OR 1.78; 95 % CI 1.09-2.89), neuroischemic foot (OR 20.34; 95 % CI 9.31-44.38), region of origin (higher risk for those from developed regions, OR 2.39; 95 % CI 1.47-3.87), presence of retinopathy (OR 1.68; 95 % CI 1.08-2.62) and absence of vibratory sensation (OR 7.95; 95 % CI 4.65-13.59). Risk factors for amputation were male gender (OR 2.12; 95 % CI 1.2-3.73), type 2 diabetes (OR 3.33; 95 % CI 1.01-11.1), foot at risk classification (higher risk for ischemic foot, OR 19.63; 95 % CI 3.43-112.5), hypertension (lower risk, OR 0.3; 95 % CI 0.14-0.63), region of origin (South/Southeast, OR 2.2; 95 % CI 1.1-4.42), previous history of ulcer (OR 9.66; 95 % CI 4.67-19.98) and altered vibratory sensation (OR 3.46; 95 % CI 1.64-7.33). There was no association between either outcome and ethnicity. CONCLUSIONS: Ulcer and amputation rates were high. Age at presentation was low and patients with ulcer presented a higher prevalence of neuropathy compared to ischemic foot at risk. Ischemic disease was more associated with amputations. Ethnical differences were not of great importance in a miscegenated population.

Validación de un ELISA para la cuantificación de las impurezas proteicas de la cepa hospedera en el principio activo de la vacuna recombinante cubana contra la hepatitis B / Validation of an ELISA for the quantification of protein impurities from host strain on the active principle of the Cuban recombinant vaccine against hepatitis B

Se validó un inmunoensayo tipo sandwich de doble anticuerpo para cuantificar las impurezas proteicas de la cepa hospedera que pueden estar presentes en el principio activo de la vacuna cubana contra la hepatitis B. Seprepararon los reactivos biológicos empleados en el ELISA. Las proteínas de la cepa hospedera se obtuvieron bajo las mismas condiciones que el proceso de producción de la proteína recombinante hasta un paso de semipurificación o purificación primaria. Los antisueros dirigidos contra las proteínas de la cepa hospedera segeneraron en conejos por un proceso de inmunización en cascada. Para la validación se analizaron los siguientesparámetros: linealidad, límite de detección y cuantificación, exactitud, rango y precisión. El ensayo establecido resultó específico, con una exactitud entre 89 por ciento y 109 por ciento para todos los tampones estudiados; se demostró un ajuste parabólico y un rango de trabajo entre 0,63 y 1,25 ng/mL, la repetibilidad y la precisión intermedia mostraron coeficientes de variación inferiores al 10 y 20 por ciento respectivamente(AU)

be present in the active pharmaceutical ingredient of Cuban vaccine against hepatitis B. All biological reagentsused in the ELISA were prepared and characterized. The proteins from the host strain were obtained under thesame conditions as the production process of the recombinant protein until a purification or primary emipurificationstep. The antisera addressed against those proteins were generated in rabbits by an immunization process incascade. For validation the parameters analyzed were: linearity, limit of detection and quantification, accuracy,range and precision. The established assay was specific, and the calculated accuracy was from 89 por ciento to 109por ciento for all studied buffers. A parabolic fit and a working range from 0.63 to 1,25 ng/mL were emonstrated. The repeatability and intermediate precision showed variation coefficients below 10 por ciento and 20 por ciento respectively(AU)

Establecimiento y validación de un ensayo inmunoenzimático tipo ELISA, empleado en el control de calidad del Interferón alfa 2b humano recombinante / Establishment and validation of an ELISA-type immunoenzymatic assay, used for quality control of human recombinant alpha-2b Interferon

Se estableció y validó un ELISA para la cuantificación del Interferón alfa 2b humano recombinante en el Ingrediente Farmacéutico Activo, definiéndose los criterios de validez del ensayo y basado en el cumplimiento de las Buenas Prácticas de Laboratorio. Se evaluaron los parámetros de: linealidad, especificidad, exactitud, rango, precisión y robustez. El ensayo establecido resultó específico, con una exactitud entre 84,3 por ciento y 102,4 por ciento, se demostró un ajuste cuadrßtico y un rango de trabajo entre 1 y 10 ng/mL; la repetibilidad y la precisión intermedia mostraron coeficientes de variación inferiores al 10 por ciento y 20 por ciento respectivamente, y se comprobó la robustez del método con respecto al efecto borde y la estabilidad de las soluciones(AU)

An ELISA for quantification of human recombinant alpha-2b Interferon in the Active Pharmaceutical Ingredient (API) was established and validated, and the validity criteria for the assay were defined, based on Good Laboratory Practices compliance. The following parameters were evaluated: linearity, specificity, accuracy, range, precision and robustness. The assay was specific, with accuracy from 84,3 to 102,4 percent, a quadratic adjustment and a working range from 1 to 10 ng/mL, repetibility and intermediate precision with coefficients of variation lower than 10 percent and 20 percent respectively, and robustness confirmed in relation to the edge effect and the stability of solutions(AU)

New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.

Mutations of the steroid 5alpha-reductase type 2 (SRD5A2) gene in 46,XY subjects cause masculinization defects of varying degrees, due to reduced or impaired enzymatic activity. In this study, sequence abnormalities of the SRD5A2 gene were assessed by polymerase chain reaction with specific primers and automated sequencing analysis in DNA samples from 20 patients with suspected steroid 5alpha-reductase type 2 deficiency from 18 Brazilian families. Eleven subjects presented SRD5A2 homozygous single-base mutations (two first cousins and four unrelated patients with G183S, two with R246W, one with del642T, one with G196S, and one with 217_218insC plus the A49T variant in heterozygosis), whereas four were compound heterozygotes (one with Q126R/IVS3+1G>A, one with Q126R/del418T, and two brothers with Q126R/G158R). Three patients were heterozygous for A207D, G196S, and R266W substitutions. The V89L polymorphism was found in heterozygosis in one of them (with A207D) and in one case with an otherwise normal gene sequence. The A49T variant was also detected in heterozygosis in the second case without other sequencing abnormalities. Four patients harbor yet non-described SRD5A2 gene mutations: a single nucleotide deletion (del642T), a G158R amino acid substitution, a splice junction mutation (IVS3+1G>A), and the insertion of a cytosine (217_218insC) occurring at a CCCC motif. This is the first report of a single-nucleotide insertion in the coding sequence of the SRD5A2 gene. In addition to these new mutations, this investigation reveals the prevalence of G183S substitution among a subset of African-Brazilian patients and presents evidences of the recurrence of already known mutations.

Deficiência de 5alfa-redutase tipo 2: experiências de Campinas (SP) e Salvador (BA) / 5alpha-reductase type 2 deficiency: experiences from Campinas (SP) and Salvador (BA)

OBJETIVO: Apresentar a experiência relativa a pacientes com deficiência da enzima 5alfa-redutase tipo 2 provenientes de três serviços distintos no Brasil. CASUíSTICA E MÉTODOS: Foram incluídos 25 pacientes com sinais clínicos e hormonais de deficiência da 5alfa-redutase 2 pertencentes a 23 famílias, 15 oriundas da Bahia, 7 de São Paulo e 1 de Minas Gerais. Foram avaliados dados clínicos, hormonais e moleculares. A análise molecular dos 5 éxons do gene SRD5A2 foi feita por meio da técnica de PCR, seguida de seqüenciamento automático ou manual. RESULTADOS: Em 10 famílias havia mutações no gene SRD5A2 em homozigose (5 com G183S, 2 com R246W, 1 com G196S, 1 com del642T, 1 com 217_218insC) e em 3 em heterozigose composta (1 com Q126R/IVS3+1G>A, 1 com Q126R/del418T e 1 com Q126R/G158R); em 3 casos os afetados eram heterozigotos, apresentando apenas uma mutação deletéria (1 com G196S, 1 com A207D e 1 com R246W). Em 7 casos não foram detectadas anormalidades ao seqüenciamento. Observou-se maior freqüência da G183S em pacientes miscigenados (Afro-Euro-Brasileiros) oriundos da Bahia. Os achados clínicos e hormonais não diferiram entre os casos com e sem mutação, à exceção da freqüência de consangüinidade e da maior gravidade da ambigüidade genital nos primeiros. CONCLUSÕES: Os resultados encontrados salientam a importância da investigação molecular para o diagnóstico dessa doença, ressaltando o achado de uma mutação bastante freqüente em nosso meio (G183S), especialmente em pacientes miscigenados oriundos da Bahia, e a descrição de mutações que até o momento só foram relatadas em pacientes brasileiros.

[5alpha-reductase type 2 deficiency: experiences from Campinas (SP) and Salvador (BA)]. / Deficiência de 5alfa-redutase tipo 2: experiências de Campinas (SP) e Salvador (BA).

OBJECTIVE: To report the experience regarding patients with steroid 5alpha-reductase type 2 deficiency from three different clinical services in Brazil. CASUISTIC AND METHODS: Twenty five patients with clinical and hormonal features of 5alpha-reductase deficiency from 23 families (15 from Bahia, 7 from São Paulo and 1 from Minas Gerais) were included in this study. Clinical, hormonal and molecular data were evaluated. The molecular analysis of the five exons of the SRD5A2 gene was done by automatic or manual sequencing of PCR products. RESULTS: In ten families, SRD5A2 mutations were found in homozygosis (5 with G183S, 2 with R246W, 1 with G196S, 1 with del642T, 1 with 217_218insC), in three in compound heterozygosis (1 with Q126R/IVS3+1G>A, 1 with Q126R/del418T, 1 with Q126R/G158R) while other three were heterozygous, with only one deleterious mutation (1 with G196S, 1 with A207D, and 1 with R246W). In seven cases, no sequencing abnormalities were detected. The G183S substitution was the most frequently found among miscegenated patients (Afro-Euro-Brazilians) from Bahia. Hormonal and clinical findings did not differ between patients with or without mutations, exception made to a higher frequency of consanguinity and greater severity of genital ambiguity in the first group. CONCLUSION: Our results reinforce the importance of molecular investigation for the diagnosis of this disease and point out to the finding of a very frequent mutation (G183S) in our series, especially in patients with mixed ethnic background from Bahia, and the description of mutations that have only been reported in Brazilian patients so far.

Diagnosis of 5alpha-reductase type 2 deficiency: contribution of anti-Müllerian hormone evaluation.

AIM: To evaluate anti-Müllerian hormone (AMH) levels in patients with clinical and molecular diagnosis of 5alpha-reductase 2 deficiency. PATIENTS AND METHODS: Data from 14 patients whose age ranged from 21 days to 29 years were analyzed according to age and pubertal stage. Sexual ambiguity was rated as Prader III in 11 patients. LH, FSH, testosterone (T), dihydrotestosterone (DHT) and AMH serum levels were measured in all but two patients, who had been previously submitted to gonadectomy; T and DHT were also measured in 20 age-matched controls. RESULTS: Gonadotropin levels were normal in all but one patient who retained gonads (six of whom had reached puberty) and T/DHT ratio was elevated in all patients when compared to controls. All prepubertal patients had AMH levels < -1 SD for age, while most pubertal patients had AMH levels compatible with pubertal stage. CONCLUSIONS: Prepubertal patients with 5alpha-reductase 2 deficiency have AMH values in the lower part of the normal range. These data indicate that T does not need to be converted to DHT to inhibit AMH secretion by Sertoli cells.

Hormônio anti-mülleriano: revisäo e contribuiçäo para a investigaçäo das ambigüidades genitais / Antimullerian hormone: review and contribution for the investigations of genital ambiguities

A investigaçäo etiológica das ambigüidades genitais com cariótipo 46,XY apresenta dificuldades freqüentes. A funçäo testicular tem sido tradicionalmente avaliada pela capacidade esteroidogênica das célulacs de Leydig e pela espermatogênese. Recentemente, demonstrou-se qua a avaliaçäo sérica do hormônio anti-mülleriano (HAM)como marcador da funçäo das célilas de Sertoli pode ser de grande valia nesta investigaçäo. O objetivo desta revisäo é apresentar aspectos históricos e fisiológicos do HAM, e sua utilidade na investigaçäo diagnóstica de pacientes com intersexo. Também é mostrada a experiência dos autores na avaliaçäo de intersexo com dosagens combinadas de andrógenos, HAM e testosterona.