Programa de cribado para el déficit De alfa 1-antitripsina en el servicio de neumonología del Hospital Tránsito Cáceres de Allende / Alpha-1-antitrypsin deficiency screening program at the Pneumonology Department of Hospital Tránsito Cáceres de Allende

El déficit de alfa -1 Antitripsina (DAAT) es una enfermedad genética rara, asociada a un incremento a padecer enfisema pulmonar y hepatopatía crónicas en niños y adultos, frecuentemente subdiagnosticada, con largos retrasos entre el inicio de los síntomas y el diagnóstico definitivo. La alfa 1-antitripsina (AAT) es el inhibidor de proteasas más abundante en el organismo humano. Se considera déficit grave y es a lo que habitualmente se refiere la literatura científica a los siguientes fenotipos: SZ, ZZ y Null. Es necesario programas de cribado para su detección precoz, por lo que se ha descripto y validado un método sencillo y específico, mediante el cual se cuantifica el valor de AAT por nefelometría en muestras de gota de sangre en papel secante y se realiza genotipificación rápida de las variantes Z y S. Objetivos: Determinar la proporción de individuos con DAAT en una población de pacientes con enfermedades respiratorias crónicas. Identificar y caracterizar a aquellos con déficit de AAT. Materiales y Método: Estudio Observacional, Descriptivo de corte Transversal de cribado de déficit de AAT, entre el 2 de enero de 2014 a 30 de marzo de 2015. De 80 personas que cumplieron con los criterios de inclusión y que concurrieron de forma espontánea o por derivación al Servicio de Neumonología del Hospital Tránsito Cáceres de Allende, Córdoba, Argentina, se analizaron 62 pacientes que aceptaron realizarse el estudio. Se realizó dosaje de alfa1-antitripsina mediante gota de sangre en papel secante a los pacientes que cumplieron los criterios de inclusión. Se solicitó espirometría, Tomografía Computada de Tórax de Alta Resolución y genotipificación rápida solo a aquellos pacientes con valores de alfa 1-antitripsina < 1,8 mg/dL. Resultados: En el presente trabajo se estudió un total de 62 pacientes, 28 (45,2%) fueron de sexo femenino y 34 (54,8%) de sexo masculino, 37 (59,7%) tuvieron valores de alfa 1-antitripsina ≥ 1,8 mg/dL y 25 (40,3%) < 1,8 mg/dL. La obtención del genotipo por la técnica de gota seca a 25 (40,3%; 25:62) pacientes con valores < 1,8 mg/dL mostró que: 22 (88%; 22:25) fueron NoS NoZ, 2 (8%; 2:25) Heterocigoto para Z y 1 (4%; 1:25) Heterocigoto para S. El patrón espirométrico predominante según criterio de ATS/ERS fue el obstructivo (88%). El patrón en TCAR fue de enfisema en 22 pacientes (88%): 7 (31,8%) centrolobulillar, 8 (36,4%) paraseptal, 7 (31,8%) panlobulillar. Hubo 2 pacientes (8%) con bronquiectasias, y 1 (4%) fue normal. Conclusión: En una población seleccionada por síntomas y/o antecedentes se pueden identificar con el cribado con técnica de gota seca a pacientes con DAAT, que en su expresión grave es poco frecuente en la Argentina, probablemente subdiagnosticado, siendo superior el número de portadores heterocigotos PIS y PIZ. El diagnóstico precoz de DAAT es poco frecuente. Es difícil establecer conclusiones sobre el grupo de alfa 1-antitripsina <1,8 mg/dL sin ser deficiencias graves, en relación a las variables estudiadas en la muestra debido a la escases de estudios y bibliografía encontradas sobre el tema. Consideramos que los pacientes que presentan un genotipo No S No Z y los que presentan discordancia deben ser confirmados cuantitativamente y tener una caracterización del fenotipo en muestras de suero por Isoelectoenfoque y ocasionalmente el análisis molecular del gen para variantes alélicas poco frecuentes, nuevas o nulas.

Alpha-1-antitrypsin deficiency screening program at the Pneumonology Department of Hospital Tránsito Cáceres de Allende

Alpha-1-antitrypsin deficiency (AATD) is a rare genetic disease associated with an increased risk of suffering from pulmonary emphysema and chronic hepatopathy in children and adults alike. It is often underdiagnosed, with long periods elapsing between the onset of symptoms and a definite diagnosis. Alpha-1-antitrypsin (AAT) is the most abundant protease inhibitor in the human body. Scientific literature considers severe deficiency to be associated with the following phenotypes: SZ, ZZ and Null. Screening programs are required for early detection, this is why an easy and specific method has been described and validated. Through this method, AAT values are quantified using nephelometry in blood drop samples on blotting paper, then genotyping of the Z and S variants is quickly performed. Objectives: To determine the number of individuals with AATD within a population of patients with chronic respiratory diseases. To identify and define those with AAT deficiency. Materials and Method: Observational, descriptive and cross-sectional study of AAT deficiency screening, between January 2nd, 2014 and March 30th, 2015. Out of 80 individuals who fulfilled the inclusion criteria and who spontaneously attended or were referred to the Pneumonology Department of Hospital Tránsito Cáceres de Allende, Córdoba, Argentina, 62 patients who agreed to the study were analyzed. A test to determine the concentration of alpha-1-antitrypsin was performed to the patients who met all the inclusion criteria using blood drops on blotting paper. Only patients with alpha-1-antitrypsin levels < 1.8 mg/dL were requested a spirometry, a high-resolution computed tomography of the chest and quick genotyping tests. Results: A total of 62 patients was evaluated in this study, 28 (45.2%) were females and 34 (54.8%) were males, 37 (59.7%) had alpha-1-antitrypsin levels ≥ 1.8 mg/dL and 25 (40.3%) < 1.8 mg/dL. Genotype elicitation using the dried-droplet method in 25 (40.3%; 25:62) patients with values < 1.8 mg/dL showed that: 22 (88%; 22:25) were Non-S Non-Z, 2 (8%; 2:25) were heterozygote for Z and 1 (4%; 1:25) was heterozygote for S. According to ATS/ERS criteria, the predominant spirometric pattern was obstructive (88%). The HRCT pattern corresponded to emphysema in 22 patients (88%): 7 (31.8%) centrilobular, 8 (36.4%) paraseptal, 7 (31.8%) panlobular. There were 2 patients (8%) with bronchiectasis and 1 (4%) was normal. Conclusion: In a population selected by symptoms and/or history, patients with AATD can be identified using the dried-droplet method. Severe AATD is uncommon in Argentina, probably because it is underdiagnosed, and the amount of heterozygote PIS and PIZ carriers is higher. Early AATD diagnosis is uncommon. It is difficult to draw conclusions about the alpha-1-antitrypsin group below 1.8 mg/dL without severe deficiencies in connection with the variables analyzed in the sample due to the lack of studies and bibliography on this subject. We consider that patients with non-S non-Z genotypes and the ones with discrepancies must be quantitatively confirmed and their phenotype defined in serum samples using isoelectric focusing and, occasionally, they must have a molecular gene analysis to look for uncommon, new or null allelic variants.

[Prevalence of malnutrition in minors under 5 years of age in Tabasco]. / Prevalencia de desnutrición en menores de cinco años de Tabasco.

OBJECTIVE: To evaluate malnutrition prevalence in children under five years-old in Tabasco, Mexico, during 1996, and their evolution in 1991-1996. MATERIAL AND METHODS: A cross-sectional study, including 1,256 children under five years-old in 593 communities (31 urban and 562 rural) from 17 sanitary districts. RESULTS: The weight/age indicator for malnutrition in children under five years old showed 59% of children had normal nutrition and 41% with malnutrition, distributed as follows: 26.12% slight, 12.62% moderate and 2.39% severe. In children between 1-5 years old, malnutrition prevalence was 45%. CONCLUSIONS: The number of children with malnutrition in Tabasco during the study period (1991-1996) has decreased in proportion to the increase of those with normal nutrition. Based on the health system activities, the number of health districts with critical malnutrition indicators decreased from 6 to 4.

[Prevalence of malnutrition in preschool children in Tabasco, Mexico]. / Prevalencia de desnutrición en preescolares de Tabasco, México.

Childhood malnutrition is an important and prevailing public health problem in Tabasco, Mexico, where precise information is still lacking. Tabasco Public Health Department has been working on this problem since 1991. The first nutritional survey was carried out to recognize the nutritional level of 935 randomly selected children between 1-4 years of age in 17 municipalities of the state. A proportion of 46% of childhood malnutrition level was found in this Mexican state (29.8 low, 12.8% moderate and 3.4% severe). Ninety percent of severe childhood malnutrition cases were located in the rural municipalities of Tacotalpa, Nacajuca, Jonuta, Macuspana and Centla. These municipalities were more affected, with a malnutrition prevalence of 63%, 62.2%, 60%, 59.5% and 59.4%, respectively. Results from these surveys identify high risk areas and may serve to advance specific proposals for nutrition interventions.

[Early reactions in pupils vaccinated with an aerosol measles vaccine]. / Reacciones tempranas en escolares vacunados con antisarampionosa en aerosol.

In view of the measles epidemic that affected the country, a resolution was taken to enlarge the extent of vaccination range in school age groups, which were the most affected in such epidemic. The vaccination with the aerosol method, allowed the optimization of the vaccine, the application time, and the human resources. There were 208,045 scholastics vaccinated in Tabasco, a survey was performed in the jurisdiction of Jalpa de Méndez with 6,738 vaccinated children in order to find out the postvaccination reactions a week after the vaccine was inhaled. It was found in 1,844 children, that there were different signs and symptoms that did not represent a risk for the application of the aerosol method.

The spectrophtal: an instrument for ocular spectrophotometry and fluorophotometry.

We describe the technical characteristic of a new instrument, which is controlled by a microcomputer and is aimed at ocular spectrophotometric and fluorophotometric studies. We also discuss some practical applications.