[Bacillus Calmette-Guérin infection and chronic granulomatous disease due to new pathogenic variants in the NCF2 gene in the Mayan ethnic group. Report of two cases.] / Infección por bacilo de Calmette-Guérin y enfermedad granulomatosa crónica por nuevas variantes patogénicas del gen NCF2 en la etnia maya. Reporte de dos casos.

INTRODUCTION: Chronic granulomatous disease (CGD) is an inborn error of immunity, characterized by abnormal susceptibility to bacterial and fungal infections and a lack of systemic inflammatory regulation. Pathogenic variants in the CYBB gene are transmitted in an X-linked pattern of inheritance; while the pathogenic variants present in the EROS, NCF1, NCF2, NCF4, or CYBA genes are transmitted with an autosomal recessive inheritance pattern. OBJETIVES: To describe the clinical, immunological, and genetic characteristics of two patients with CGD and BCG infection. METHODS: In peripheral blood neutrophils, H2O2 production and the expression of NADPH oxidase subunits were measured. Detection of pathogenic variants was by Sanger sequencing of the NCF2 gene. The clinical information was extracted from the records by the treating physicians. RESULTS: We present two male infants from two unrelated families of Mayan ethnicity, with CGD and BCG vaccine infection. Three different pathogenic variants in the NCF2 gene were identified; on the one hand, c.304 C>T (p.Arg102*) has already been reported, on the other hand, c.1369 A>T (p.Lys457*) and c.979 G>T (p.Gly327*) not reported. CONCLUSIONS: In patients with mycobacterial infection with BCG, we should suspect an inborn error of immunity, such as CGD. The diagnosis of CGD is made through the detection of a lack of radical oxygen species in neutrophils. The reported patients had pathogenic variants in the NCF2 gene, two of which have not been previously reported in the literature.

INTRODUCCIÓN: La enfermedad granulomatosa crónica (EGC) es un error innato de la inmunidad, se caracteriza por una susceptibilidad a padecer infecciones bacterianas y fúngicas y a una falta de regulación inflamatoria sistémica. Las variantes patogénicas en el gen CYBB se trasmiten con un patrón de herencia ligada al X; mientras que las variantes patogénicas presentes en los genes EROS, NCF1, NCF2, NCF4 o CYBA se trasmiten con un patrón de herencia autosómico recesivo. OBJETIVOS: Describir las características clínicas, inmunológicas y genéticas de dos pacientes con EGC e infección por BCG. MÉTODOS: En neutrófilos de sangre periférica se midió la producción de H2O2 y la expresión de las subunidades de la NADPH oxidasa. La detección de las variantes patogénicas fue por secuenciación Sanger del gen NCF2. La información clínica fue extraída de los expedientes por los médicos tratantes. RESULTADOS: Presentamos a dos lactantes masculinos de dos familias no relacionadas de la etnia maya, con EGC e infección por la vacuna de BCG. Se identificaron tres diferentes variantes patogénicas en el gen NCF2; por un lado, c.304 C>T (p.Arg102*) ya reportada, por otro lado, c.1369 A>T (p.Lys457*) y c.979 G>T (p.Gly327*) no reportadas. CONCLUSIONES: En pacientes con infección micobacteriana por BCG debemos sospechar en un error innato de la inmunidad, como la EGC. El diagnóstico de EGC se realiza a través de la detección de una falta de producción de radicales libres en los neutrófilos. Los pacientes reportados tuvieron variantes patogénicas en el gen NCF2, dos de ellas no han sido reportadas previamente en la literatura.

[Neonatal Dengue. Presentation of clinical cases]. / Dengue neonatal. Presentación de casos clínicos.

Dengue is an infectious disease caused by a flavivirus, with four serotypes, transmitted by the mosquito Aedes aegypti. In Mexico it is a public health problem, especially in the region of central and southeast of the country. The disease can be asymptomatic or present serious forms and even death. It is confirmed by detection of the NS1 Antigen; IgM antibodies, polymerase chain reaction and virus isolation. The vertical transmission to de newborn has been little studied. 7 cases in neonates from November to December 2011 are reported. All patients were male, obtained by caesarean section between 34 and 40 weeks of gestation, whose mothers were enrolled with fever and symptoms associated with dengue disease and serology positive for dengue. Six with positive AgNS1 and one positive IgM; one mother died. All the newborns had positive serology for dengue, 4 with positive AgNS1 and 3 positive IgM. The clinical features of the newborn ranged from asymptomatic to one serious dengue fever, shock and hemorrhage. The symptomatic 6 attended with thrombocytopenia, changes in temperature and unspecific disturbance. The severity of mothers conditioned disrepair product at birth, but not with subsequent gravity of the new born. Vertical trasmission of dengue should be suspected in risk areas, to maintain vigilance and to give early treatment. Also is neccesary promote the realization of specific diagnostic and therapeutic guidelines to the neonatal period.

[Peak expiratory flow in 6-12 year-old children from Merida, Yucatan, Mexico]. / Flujo espiratorio máximo en niños de 6 a 12 años de edad de la ciudad de Mérida, Yucatán, México.

BACKGROUND: Assessment of pulmonary function may be done by several procedures, such as spirometric and flow metric ones. OBJECTIVE: To obtain a peak expiratory flow rate (PEFR) percentilar curve in healthy schoolchildren of both sexes of Merida, Yucatan, Mexico. MATERIAL AND METHODS: We carried out a transversal and observational study in schoolchildren between 6 and 12 years old of both sexes. They were evaluated by a demographic questionnaire that included age, weight, height and health status, and then the PEFR was assessed using a mini-Wright Peak Flow Meter recording the highest of the three numbers achieved. RESULTS: We included 621 healthy schoolchildren between 6 and 12 years old of both sexes, 321 girls and 300 boys, of two schools that were selected by random sampling. The media age was 9 +/- 2 years old, height 128 +/- 10 cm, weight 30.34 +/- 9.75 kg, corporal surface 1.049 +/- 0.22 m2, and PEFR 293.72 +/- 66 L/min. When we compared the PEFR with age, height and weight, we saw that height was a more reliable predictor than age or weight, since higher values of R were obtained. There was not a significant difference of PEFR between boys and girls. CONCLUSIONS: Our results show that the pulmonary function values increase proportionally to height, which showed the higher correlation to FEM.

Meningoencefalitis purulenta neonatal: bacterias causales y sensibilidad a los antimicrobianos / Neonatal purulent meningoencephalitis: causative bacteria and sensitivity of antimicrobial agents

Con la finalidade de determinar le etiología de la meningoencefalitis purulenta (MEP) neonatal y la sensibilidad de los microorganismos aislados, se revisaron los diversos cultivos del líquido cefalorraquídeo tomado a recién nacidos durante un periodo de cinco años. En total los cultivos fueron 3 101, con un promedio de positividad de 7.6 por ciento, y por pacientes resultó de 5.6 por ciento. Las bacterias gramnegativas representaron las dos terceras partes de los microorganismos encontrados, de las que Pseudomonas ocupó el primer lugar, seguida de E. coli y Kelbsiella; entre los grampositivos predominaron S. epidermidis y S. viridians. Entre los gramnegativos la mejor sensibilidad se observó para amikacina, y la de grampositivos (S. epidermidis y S. aureus) lo fue para la dicloxacilina. Si bien aún predominan las bacterias gramnegativas, llama la atención la aparición de S. epidermidis como agente causal de la MEP, y deben buscarse antecedentes que orienten hacia dicha etiología. La epidemiología referida debe considerarse como local, y no extrapolarse a otras unidades hospitalarias