Severe course of community-acquired pneumonia in an adult patient who is heterozygous for Q481P in the perforin gene: are carriers of the mutation free of risk?

Most cases of autosomal recessive hemophagocytic lymphohistiocytosis (HLH) are associated with over 50 mutations in the perforin gene. Some of these mutations have no clear functional association. Only homozygous patients display a full-blown syndrome, whereas no severe disease has been described in heterozygous carriers of these mutations despite the presence of functional and phenotypic alterations in cytotoxic cells. We study the family of a child who died from HLH at 6 months of age due to a Q481P mutation in the perforin gene. The study is particularly interesting because the patient's heterozygous father experienced severe community-acquired pneumonia that could be attributed to deficient in vitro NK cell activity despite normal perforin expression. This case report suggests that impaired NK cell activity in a heterozygote can result in poorer initial control of infections with severe clinical expression.

[Negative results related to drugs required in hospitalisation]. / Resultados negativos asociados con medicamentos como causa de ingreso hospitalario.

OBJECTIVE: To assess the prevalence of negative clinical outcomes associated with medication as a cause of hospital admission and to determine their characteristics (types, categories, avoidability, severity and the drug groups involved.) To determine possible risk factors related to the appearance of this problem. METHOD: An observational study carried out over a three month period in a department of the university hospital, 163 patients were selected at random. The information obtained from the patient interview, the revision of clinical records and clinical sessions were used to then identify negative clinical outcomes using the Dader method. RESULTS: In 27 cases (16.6 %; 95 % confidence interval [CI], 1.6 to 23.0), negative clinical outcomes associated with medication were considered to be the main cause of hospital admission. The most frequent negative clinical outcomes associated with medication were untreated health problems, non-quantitative ineffectiveness and quantitative safety problems respectively. The overall prevalence of preventable admissions due to negative clinical outcomes associated with medication was 88.9 %; (95 % CI, 71.9 to 96.1 %.) With regards to severity, 74.1 % (95 % CI, 55.3 to 86.1 %) of the total admissions were moderate. The most common drugs implicated in hospital admissions were: antibacterial for systemic use, cardiovascular and non steroidal anti-inflammatory agents. Apart from age, no other factors were found for hospital admissions due to negative results associated with medication. CONCLUSIONS: Negative clinical outcomes associated with medication as cause of hospital admission are a prevalent problem and most of them are avoidable with pharmacotherapeutic follow-up.

Resultados negativos asociados con medicamentos como causa de ingreso hospitalario / Negative results related to drugs required in hospitalisation

Objetivo: Estimar la prevalencia de resultados negativos asociados a medicamentos como causa de ingreso hospitalario y determinar sus características (dimensiones, tipos, evitabilidad, gravedad y grupos terapéuticos implicados). Buscar posibles factores asociados a la aparición de este problema. Método: Estudio observacional transversal, durante 3 meses, en una unidad del hospital universitario, seleccionando al azar mediante el método de extracción de bolas de una urna a 163 pacientes. La información obtenida de la entrevista con el paciente, de la revisión de historias clínicas y la procedente de las sesiones clínicas se empleaba para la identificación posterior de los resultados negativos asociados con medicamentos mediante el método Dáder. Resultados: En 27 de los 163 pacientes estudiados (16,6 %; intervalo de confianza [IC] del 95 %, 1,6-23,0), el ingreso fue causado principalmente por un resultado negativo asociado con los medicamentos. Los pacientes ingresaron por problemas de salud no tratados, inefectividades no cuantitativas e inseguridades cuantitativas respectivamente. Un 88,9 % (IC del 95 %, 71,9-96,1) de los ingresos por resultados negativos asociados con medicamentos fueron evitables. En cuanto a la gravedad, el 74,1 % (IC del 95 %, 55,3-86,1) fueron moderados. Los principales grupos farmacológicos implicados en los ingresos fueron antiinfecciosos sistémicos, fármacos relacionados con el aparato cardiovascular y antiinflamatorios no esteroideos. A excepción de la edad, no se encontraron factores asociados a la aparición de ingresos por resultados negativos asociados con medicamentos. Conclusiones: Los ingresos por resultados negativos asociados con medicamentos son un problema de elevada prevalencia y la mayoría son evitables mediante seguimiento farmacoterapéutico (AU)

Objective: To assess the prevalence of negative clinical outcomes associated with medication as a cause of hospital admission and to determine their characteristics (types, categories, avoidability, severity and the drug groups involved.) To determine possible risk factors related to the appearance of this problem. Method: An observational study carried out over a three month period in a department of the university hospital, 163 patients were selected at random. The information obtained from the patient interview, the revision of clinical records and clinical sessions were used to then identify negative clinical outcomes using the Dader method. Results: In 27 cases (16.6 %; 95 % confidence interval [CI], 1.6 to 23.0), negative clinical outcomes associated with medication were considered to be the main cause of hospital admission. The most frequent negative clinical outcomes associated with medication were untreated health problems, non-quantitative ineffectiveness and quantitative safety problems respectively. The overall prevalence of preventable admissions due to negative clinical outcomes associated with medication was 88.9 %; (95 % CI, 71.9 to 96.1 %.) With regards to severity, 74.1 % (95 % CI, 55.3 to 86.1 %) of the total admissions were moderate. The most common drugs implicated in hospital admissions were: antibacterial for systemic use, cardiovascular and non steroidal anti-inflammatory agents. Apart from age, no other factors were found for hospital admissions due to negative results associated with medication. Conclusions: Negative clinical outcomes associated with medication as cause of hospital admission are a prevalent problem and most of them are avoidable with pharmacotherapeutic follow-up (AU)