RESUMO

OBJECTIVE: To use the results of the first five years of a cystic fibrosis newborn screening program to estimate the cystic fibrosis birth prevalence and spectrum of cystic fibrosis transmembrane conductance regulator ( CFTR) gene variants in Yucatan, Mexico. METHODS: Screening was performed from 2010 to 2015, using two-tier immunoreactive trypsinogen testing, followed by a sweat test. When sweat test values were >30 mmol/L, the CFTR gene was analyzed. RESULTS: Of 96,071 newborns screened, a second sample was requested in 119 cases. A sweat test was performed in 30 newborns, and 9 possible cases were detected (seven confirmed cystic fibrosis and two inconclusive). The most frequently detected CFTR pathogenic variant (5/14 cystic fibrosis alleles, 35.7%) was p.(Phe508del); novel p.(Ala559Pro) and p.(Thr1299Hisfs*29) pathogenic variants were found. CONCLUSIONS: Cystic fibrosis birth prevalence in southeastern Mexico is 1:13,724 newborns. Immunoreactive trypsinogen blood concentration is influenced by gestational age and by the time of sampling. The spectrum of CFTR gene variants in Yucatan is heterogeneous.

Assuntos

Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/sangue , Fibrose Cística/diagnóstico , Mutação , Triagem Neonatal/métodos , Alelos , Fibrose Cística/genética , Feminino , Humanos , Recém-Nascido , Masculino , México/epidemiologia , Prevalência , Reprodutibilidade dos Testes , Suor , Tripsinogênio/sangue

RESUMO

OBJECTIVE: To quantify the number of asthma attacks treated in the emergency room of a public hospital and to study seasonal fluctuations. MATERIAL AND METHODS: A retrospective survey was conducted in the pediatrician emergency room of General Hospital Agustin O'Horan in Merida, Yucatan, Mexico during one year (January 1 to December 31st, 2005). A total of 7,674 emergency room consultations were registered during a period of one year. All patients were younger than 14 years old. RESULTS: Among the conditions treated, acute asthma (10.3%) was the third most common diagnosis. There were 622 children with asthma, 376 boys (60%). Most of the asthma consultations (22.6%) involved children of 1 year old of age. The consultation for asthma attacks increased in December (18.4%), October (14.1%) and September (12.2%). A significative association was found between the monthly number of emergency room visits due to acute asthma and upper respiratory infections (r = 0.9059, p = < 0.001, I.C. 99%). CONCLUSION: The acute asthma is one of the most frequent emergency consult causes in children and there was a positive association between acute asthma and upper respiratory infections.

Assuntos

Asma/epidemiologia , Doença Aguda , Adolescente , Criança , Pré-Escolar , Comorbidade , Estudos Transversais , Serviço Hospitalar de Emergência/estatística & dados numéricos , Feminino , Inquéritos Epidemiológicos , Hospitais Gerais/estatística & dados numéricos , Humanos , Lactente , Masculino , México/epidemiologia , Prevalência , Infecções Respiratórias/epidemiologia , Estudos Retrospectivos , Estações do Ano

RESUMO

Introducción. Debido a que la litiasis urinaria (LU) es endémica en Yucatán, es deseable conocer la prevalencia, cuadro clínico y alteraciones metabólicas de la insuficiencia renal (IR) secundaria a LU en niños. Material y métodos. Se registraron en forma prospectiva, pacientes con edad menor o igual a 15 años y diagnóstico de IR, ingresados de marzo de 2001 a febrero de 2006. Se seleccionaron los casos asociados a LU. Se registró la edad, sexo, condiciones de ingreso, localización de los litos, tratamiento médico y quirúrgico, complicaciones y evolución; aquéllos en los que revirtió la IR se les efectuaron pruebas metabólicas, al recuperarse la función renal. Resultados. Se captaron 104 pacientes con IR, en 13 se observó la asociación de IR con LU (8 mujeres y 5 hombres). La edad osciló entre 8 meses y 12 años; 10 pacientes fueron menores a 3 años. El signo predominante (9/13) fue anuria. Todos tuvieron litos múltiples. Diez pacientes sufrían algún grado de desnutrición. Un caso tuvo hipouricemia e hipouricosuria, 1 con hiperuricosuria (HUU) e hipercalciuria, 8 con HUU, en 3 no se pudo determinar la causa metabólica de la LU. Dos casos requirieron diálisis; 2, instalación de sondas de nefrostomía. Todos requirieron litotomía. Diez evolucionaron en forma satisfactoria, 2 con IR crónica y 1 falleció por urosepsis a pocas horas de su ingreso a urgencias. Conclusiones. La LU puede causar IR en niños y eventualmente llevar a la muerte. La HUU es la alteración metabólica predominante.

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Introduction. Because urolithiasis (UL) in an endemic disease in the Yucatan peninsula, we carried out a prospective to study over a 5 year period to determine the prevalence, clinical course and metabolic disturbances of renal failure (RF) secondary to UL in children admitted to our institution. Material and methods. Patients 15 years old and younger, diagnosed with RF, and hospitalized from March 2001 to February 2006, were prospectively examined. Cases associated to UL were selected. Age, sex, hospitalization conditions, litho locus, medical and surgical treatment, complications, and evolution, were registered. Metabolic tests were performed in those in whom RF reverted, posterior to the recovery of renal function. Results. One hundred four patients with RF were detected; 13 cases (8 females and 5 males) had RF and UL. Age was between 8 months and 12 years old and 10 patients were registered to be less than 3 years old. Anuria was the principal clinical data. Every case had multiple stones. Some undernourishment degree was diagnosed in 10 patients. Hypouricemia and hypouricosuria were present in one case whereas hyperuricosuria and hypercalciuria were present in another; hyperuricosuria was found in 8 cases and the metabolic cause for UL in 3 cases could not be identified. Dialysis was required in 2 cases and nephrostomy probes were used in 2 more cases. All cases needed lithotomy. A satisfactory evolution was achieved in 10 patients and chronic RF developed in 2; one patient died due to urosepsis after few hours of been hospitalized in the emergency room. Conclusions. RF in children can be caused by UL and in some cases irreversible damage and even death can occur. Hyperuricosuria was the predominant metabolic alteration.