Consenso mexicano de tirosinemia tipo 1.

Introduction: Tyrosinemia type 1 is a rare disease with autosomal recessive inheritance, featuring various clinical manifestations. These may encompass acute neonatal liver failure, neonatal cholestatic syndrome, chronic hepatitis, cirrhosis, hepatocellular carcinoma, and, alternatively, kidney disorders like renal tubular acidosis, Fanconi syndrome, hypophosphatemic rickets, among other alterations. Diagnosis relies on detecting toxic metabolites in the blood and urine, ideally confirmed through molecular testing.

Not enough by half: NFAT5 haploinsufficiency in two patients with Epstein-Barr virus susceptibility.

Introduction: The transcription factor Nuclear factor of activated T cells 5 (NFAT5), pivotal in immune regulation and function, can be induced by osmotic stress and tonicity-independent signals.

Objective: We aimed to investigate and characterize two unrelated patients with Epstein-Barr virus susceptibility and no known genetic etiology.

Methods: After informed consent, we reviewed the electronic charts, extracted genomic DNA, performed whole-exome sequencing, filtered, and prioritized their variants, and confirmed through Sanger sequencing, family segregation analysis, and some functional assays, including lymphoproliferation, cytotoxicity, and characterization of natural killer cells.

Treatment Approaches for Swallowing Disorders in Children.

A swallowing disorder or dysphagia is defined as a disorder in the sequence of swallowing, during the oral or pharyngeal phase, which compromises the safety and/or efficiency of transit of the food bolus to the esophagus. The evaluation of neurodevelopment, nutrition, and preventive medicine actions are as important as the clinical evaluation of dysphagia, so they must be included and systematized in all pediatric evaluations; This evaluation can be divided into different parts: bedside swallowing evaluation, instrumental swallowing evaluation, and additional studies. The management of swallowing disorders requires a multidisciplinary team approach, depending on the child's age, cognitive and physical abilities, and the specific swallowing and feeding disorder, ensuring adequate and safe nutrition and improving the patient's quality of life.

Nutritional benefits in pediatric patients with percutaneous endoscopic gastrostomy placement.

Gastrostomy is an enteral nutrition option. Indications for its placement are diverse, among them, the alteration in the mechanics of swallowing, frequently present in patients with neurological diseases. Nutritional recovery is the objective in these patients evaluating the nutritional status after the placement of a PEG in the pediatric population.

Gut Microbiota in Mexican Children With Acute Diarrhea: An Observational Study.

Background: Acute diarrhea is the second leading cause of preventable mortality and morbidity in children worldwide. This study aimed to identify the main pathogens associated with acute diarrhea and to describe changes in gut microbiota in Mexican children.

Methods: This single-center observational study included 30 children (6 months to 5 years old) with acute diarrhea who were referred to the Instituto Nacional de Pediatría of Mexico City and 15 healthy volunteers (control group).

Childhood obesity in Mexico: social determinants of health and other risk factors.

Approximately 50 million children and adolescents in Latin America are affected by the childhood obesity pandemic. We present the case of a 5-year-old Mexican girl with obesity and gastro-oesophageal reflux disease (GORD), in whom prenatal, lifestyle and environmental risk factors were identified. Here, we demonstrate how childhood obesity is rooted since pregnancy and the perinatal stage, and how the social determinants of health like unsafe outdoor conditions, lack of infrastructure to exercise and a suboptimal physical activity curriculum in government schools strongly influence the development and maintenance of childhood obesity and complicate management.