Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.

OBJECTIVE: To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services). STUDY DESIGN: Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease. Screen-positive cases were confirmed using leukocyte enzymatic activity and DNA molecular analysis. RESULTS: From July 2012 to April 2016, 20,018 patients were screened; 20 patients were confirmed to have an LSD phenotype (99.9 in 100,000 newborns). Final distributions include 11 Pompe disease, five Fabry disease, two MPS-I, and two Niemann-Pick type A/B patients. We did not find any Gaucher or Krabbe patients. A final frequency of 1 in 1001 LSD newborn phenotypes was established. DISCUSSION: NBS is a major public health achievement that has decreased the morbidity and mortality of inborn errors of metabolism. The introduction of NBS for LSD presents new challenges. This is the first multiplex Latin-American study of six LSDs detected through NBS.

Serum concentrations of apoptosis-associated molecules in septic children with leukemia, neutropenia and fever.

It has been shown that Fas, Fas-L, TNF and TNFR-1 display high serum concentrations in subjects with sepsis. This suggests that these are potential severity markers. However, the serum concentration of these molecules in children with leukemia and suspected sepsis has to be established before proposing their use as diagnostic biomarkers. We included children <17 years of age diagnosed with acute lymphoblastic leukemia with neutropenia and fever (NF). The subjects were divided into two groups: (1) leukemia and NF with sepsis, (2) leukemia and NF without sepsis. Determination of serum levels of TNF-α, TNFR-1, Fas and Fas-L was performed using ELISA tests, and apoptosis percentage using flow cytometry. Seventy-two subjects with ALL and NF were included in the two groups. The highest serum levels of TNF-α (35.2 ± 7.6 pg/ml) and TNF-R1 (4102 ± 2440) and the lowest levels of Fas-L (19.4 ± 7.3 pg/ml) were found in group 2: however, the difference in comparison with patients without sepsis was not statistically significant. Low levels of Fas-L and low percentage of apoptotic cells are observed in septic subjects. This pattern may reflect the presence of sepsis among subjects with NF secondary to leukemia.

Neisseria meningitidis and Streptococcus pneumoniae as leading causes of pediatric bacterial meningitis in nine Mexican hospitals following 3 years of active surveillance.

OBJECTIVES: Meningococcal meningitis is reported as a rare condition in Mexico. There are no internationally published studies on bacterial causes of meningitis in the country based on active surveillance. This study focuses on finding the etiology of bacterial meningitis in children from nine Mexican Hospitals. METHODS: From January 2010 to February 2013, we conducted a three years of active surveillance for meningitis in nine hospitals throughout Mexico. Active surveillance started at the emergency department for every suspected case, and microbiological studies confirmed/ruled out all potentially bacterial pathogens. We diagnosed based on routine cultures from blood and cerebrospinal fluid (not polymerase chain reaction or other molecular diagnostic tests), and both pneumococcal serotyping and meningococcal serogrouping by using standard methods. RESULTS: Neisseria meningitidis was the leading cause, although 75% of cases occurred in the northwest of the country in Tijuana on the US border. Serogroup C was predominant. Streptococcus pneumoniae followed Neisseria meningitides, but was uniformly distributed throughout the country. Serotype 19A was the most incident but before universal implementation of the 13-valent pneumococcal conjugate vaccine. Other bacteria were much less common, including Enterobacteriaceae and Streptococcus agalactiae (these two affecting mostly young infants). CONCLUSIONS: Meningococcal meningitis is endemic in Tijuana, Mexico, and vaccination should be seriously considered in that region. Continuous universal vaccination with the 13-valent pneumococcal conjugate vaccine should be nationally performed, and polymerase chain reaction should be included for bacterial detection in all cultures - negative but presumably bacterial meningitis cases.

Gastric wall perforation secondary to presumed aspergillosis in a pediatric patient with aplastic anemia: A case report.

Aspergillosis is an opportunistic fungal infection that may develop in immunocompromised patients with conditions such as leukemia or aplastic anemia. A rare case of stomach perforation following acute fungal gastritis in a 13-year-old female patient with aplastic anemia is reported herein. The patient had developed aplastic anemia without bone marrow fibrosis secondary to acute lymphoblastic leukemia and chemotherapy. The pathological examination revealed a large ischemic transmural perforation (9.5 × 9 cm) associated with fungal septic emboli. Fungal hyphae characteristics were compatible with those of Aspergillus spp. There are few reports identifying fungi as agents associated with gastric perforation. There is a need for early identification of the infectious agent.

[Guía latinoamericana para el diagnóstico y tratamiento de alergia a las proteínas de la leche de vaca (GL-APLV)].

Cow's milk allergy (CMA) is an immune-based disease that has become an increasing problem. The diagnosis and management of CMA varies from one clinical setting to another and represents a challenge in pediatric practice. In addition, because nonallergic food reactions can be confused with CMA symptoms, there is an overdiagnosis of the disease. In response to these situations, pediatric specialties from recognized institutions throughout Latin America decided to develop a clinical guideline for diagnosis and management of cow's milk allergy. These guidelines include definitions, epidemiology, pathophysiology overview, clinical and evidencebased recommendations for the diagnosis and treatment of CMA. They also include prevention and prognosis sections and identify gaps in the current knowledge to be addressed through future research.

Estudio comparativo de oxiéster de glicerol vs óxido de zinc en el tratamiento de la dermatitis del área del pañal / Comparative study of glycerol oxiester vs zinc oxide in the treatment of dermatitis in the diaper area

Introducción. La rozadura ocasionada por el uso de pañal es una inflamación de la piel, caracterizada por lesiones en el área del pañal que causan ardor y prurito. El tratamiento actual es a base de pastas inertes como el óxido de zinc. Material y métodos. Estudio clínico aleatorizado, doble ciego, donde se formaron 2 grupos de pacientes con dermatitis del área del pañal, tratados con oxiéster de glicerol u óxido de zinc de acuerdo a la aleatorización. Resultados. Se encontró en ambos grupos una distribución similar en cuanto a características generales, pero con una diferencia estadísticamente significativa en la evaluación del tratamiento a las 72 horas, ya que 30 de 30 pacientes con oxiéster de glicerol mejoraron y sólo 25 de 30 con óxido de zinc. Conclusiones. El oxiéster de glicerol tiene una eficacia terapéutica similar al óxido de zinc.

Introduction. Diaper dermatitis is a common inflammatory condition, characterized by lesions in the skin in contact with the diaper that cause a burning sensation and pruritus. The current treatment is based on inert pastes such as zinc oxide. Material and methods. Randomized, double blind clinical study, where 2 groups of patients with dermatitis in the diaper area were randomized to treatment with glycerol oxiester or zinc oxide. Results. Both groups were of similar general characteristics A statistically significant difference in treatment evaluation at 72 hours, 30 of 30 patients treated with glycerol oxiester improved vs 25 of 30 with zinc. Conclusions. Glycerol oxiester has a therapeutic efficacy similar to zinc oxide.

Identificación de marcadores clínicos y de laboratorio en recién nacidos pretérmino con diagnóstico de meningitis bacteriana neonatal / Identification of clinical and laboratory markers in new born of preterm with diagnosis of bacterial neonatal meningitis

Objetivo: Buscar la fuerza de asociación de los datos clínicos y de laboratorio que se informan con mayor frecuencia en recién nacidos (RN) pretérmino con diagnóstico de meningitis bacteriana neonatal (MBN). Material y métodos: Se estudiaron RN de pretérmino sépticos, con diagnóstico de meningitis (casos) y RN sépticos sin meningitis (controles). Se obtuvieron datos clínicos y valores de laboratorio, en los que se incluyeron: análisis citoquímico y citológico de líquido cefalorraquídeo (LCR), biometría hemática y química sanguínea; así como resultados de hemocultivos, recopiladas de los registros del Laboratorio de Microbiología del Departamento de Infectología e Inmunología Perinatal del Instituto Nacional de Perinatología (INPer). Resultados: Se estudiaron un total de 300 RN, 150 correspondieron a controles y 150 a los casos. Los datos clínicos que mostraron significancia estadística fueron: la distensión abdominal (RM 2.4; IC 95% 1-7; p < 0.05); cambios vasomotores (RM 6.6, IC95% 1.6-30, p < 0.05) el sangrado (RM 8.1, IC 95% 2-18; p < 0.05); y la acidosis metabólica (RM 8.1; IC 95% 5-18; p < 0.05). Las cifras de celularidad total aumentada, el incremento en la cantidad de polimorfonucleares y el de mononucleares en el LCR, así como el porcentaje de reticulocitos aumentado en la biometría hemática, resultaron significativas en la comparación entre grupos. Staphylococcus epidermidis fue el microorganismo encontrado con mayor frecuencia en los cultivos de LCR positivos, seguido de Staphylococcus aureus. Conclusiones: En los pacientes pretérmino los datos con mayor asociación con meningitis bacteriana fueron la distensión abdominal; los cambios vasomotores, el sangrado y la acidosis metabólica. El examen citoquímico y citológico del LCR es una herramienta útil en el diagnóstico de neuroinfeción en el neonato.

Objective: To find the association between the of clinical manifestations and the values of laboratory in new born preterm infants with diagnosis of neonatal bacterial meningitis. Material and methods: We studied new born preterm with sepsis and diagnosis of meningitis (cases) and to newborn with sepsis without meningitis (controls) the information was obtained from department of infectology from Instituto Nacional de Perinatología (INPer). We found clinical manifestations and values of laboratory, including: cytoquimical and cytological analysis of cerebrospinal fluid (CSF), hematic biometry and chemical sanguineous. Results: A total of 300 newborns were studied: 150 to controls and 150 cases. The clinical manifestations that showed statistical significance were: Abdominal distension (OR 2.5; IC 95% 1-7; p< 0.05); marmoreal skin (OR 6.6, IC95% 1.6-30,p < 0.05), bleeding (OR 8.1, IC 95% 2 -18; p < 0.05); and metabolic acidosis (OR 8.1; IC 95% 5-18; p < 0.05). The numbers of total cells, polimorfonuclear cells and mononuclear cells in cerebrospinal fluid and percent of reticular forms in hematology results were significant. S. epidermidis was the microorganism found most frequently in the CSF. Conclusions: Abdominal distention, bleeding and hypoglycemic had a significative association with meningitis. The analysis of cerebrospinal fluid is a necessary tool to neuroinfection diagnosis.

Concordancia en la interpretación de radiografías de tórax, en niños / Agreement in the interpretration of thorax X-rays, in children

Con la finalidad de evaluar la concordancia de los pediatras en la interpretación de placas de tórax de niños, se realizó un estudio de corte transversal. Se estudiaron 50 radiografías técnicamente edecuadas y seleccionadas al azar, en las que se observaron las diferentes estructuras torácicas; participaron seis pediatras, 11 residentes de pediatría y dos radiólogos pediatras. El coeficiente Kappa, de concordancia para los radiólogos fue de 52.4 por ciento (moderado y clínicamente adecuado), en los pediatras fue de 21.5 por ciento (bajo y clínicamente deficiente). La concordancia entre los pediatras y los radiólogos fue de 17 por ciento y entre los radiólogos y los residentes de 14.0 por ciento; la exactitud también fue deficiente. Es necesario revisar los criterios radiológicos e implementar estrategias para superar las deficiencias identificadas

Fototerapia continua y concentración plasmática de calcio en neonatos ictéricos / Continuos phototherapy and calcium im plasma in jaundice newborns

Se estudiaron 25 recién nacidos, 14 con ictericia, que recibieron tratamiento con fototerapia continua (grupo A). El grupo tomado como control comprendió 21 recién nacidos sanos (grupo B). Todos los recién nacidos incluidos en el estudio fueron de término y eutróficos. En los dos grupos se estudió la concentración de calcio, proteína y albúmina plasmática. El promedio de horas de luminoterapia en el grupo "A" fue de 71.3 h, el valor promedio de calcio sérico de 8.6 mg/dL, la albúmina de 3.8 g/dL y las proteínas de 6.8 g/dL; en el grupo "B" el valor promedio de calcio sérico fue 8.8 mg/dL, la albúmina de 3.9 g/dL y las proteínas de 6.8 g/dL. No se observaron diferencias estadísticamente significativas en la concentración de calcio en relación a las horas de exposición a la fototerapia. Los autores concluyen que fototerapia continua es un método seguro para el tratamiento de la ictericia en los recién nacidos de término eutróficos; la fototerapia no modifica las cifras de calcio sérico