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).
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.
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.
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.
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.
Mexican consensus on cow's milk protein allergy Alfonso, Ramírez Mayans Jaime; Rubí, Ignorosa Arellano Karen; Manuel, Toro Monjaraz Erick ...
Allergologia et immunopathologia,
2024, Volume:
52, Issue:
1
Journal Article
Peer reviewed
Open access
The aim of this study is to present the current views of a diverse group of experts on the diagnosis and treatment of Cow's Milk Protein Allergy (CMPA) in children under 2 years of age in Mexico.
The ...study, led by a scientific committee of five experts in CMPA, was divided into six phases, including a modified Delphi process. A total of 20 panelists, all of whom were pediatric specialists, participated in administering a comprehensive 38-item questionnaire. The questionnaire was divided into two blocks: Diagnosis and Treatment (20 items each).
Consensus was reached on all the proposed items, with an agreement rate of over 70% for each of them. As a result, a diagnostic and treatment algorithm was developed that emphasized the reduction of unnecessary diagnostic studies and encouraged breastfeeding whenever possible. In cases where breast milk is not available, appropriate use of hypoallergenic formulas was recommended. In addition, recommendations on treatment duration and gradual reintroduction of cow's milk protein were provided.
The recommendations endorsed by 20 Mexican pediatricians through this study are applicable to everyday clinical practice, thereby enhancing the diagnosis and treatment of children under 2 years of age with CMPA. This, in turn, will foster improved health outcomes and optimize the utilization of healthcare resources.
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.
Introducción: En México, el servicio social es un requisito indispensable para que los estudiantes de educación superior obtengan la autorización legal de ejercer su profesión. Sin embargo, el ...servicio social de medicina se ha visto afectado por las condiciones sociales en las que se desarrolla, haciendo hincapié en el aumento de la percepción de violencia hacia los médicos pasantes. Objetivo: Estimar la prevalencia de percepción de conductas de violencia por los médicos pasantes del servicio social en una universidad pública en México durante cinco años. Método: Se aplicó un cuestionario autoadministrado de 21 preguntas con escala tipo Likert sobre la percepción de conductas de violencia en el servicio social. Se realizó estadística descriptiva para la obtención de la prevalencia, así como modelos de regresión logística para explorar asociaciones. Resultados: 4,349 médicos egresados respondieron la encuesta y se encontró una prevalencia del 58.8% de percepción de al menos una de las 21 conductas de violencia interrogadas. Las más frecuentes fueron: intentos persistentes de menospreciar y menoscabar el trabajo, insinuaciones destructivas y de sarcasmo, y humillaciones delante de colegas. Se observó una asociación entre las modalidades de campos clínicos rurales (OR 1.41, IC 95% 1.04-1.92) y vinculación (OR 1.40, IC 95% 1.04-1.87) y mayor riesgo de percibir al menos una de las conductas de violencia interrogadas. Conclusiones: Los resultados sugieren un aumento en la prevalencia de percepción de conductas de violencia en el servicio social durante los últimos cinco años en México. Es urgente la implementación de estrategias, políticas y programas que aborden la violencia durante el servicio social con el objetivo de crear espacios seguros en los que los médicos pasantes puedan desempeñar sus funciones en beneficio de la población mexicana.
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.
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