Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.

BACKGROUND: The genetic cause of hypertrophic cardiomyopathy remains unexplained in a substantial proportion of cases. Formin homology 2 domain containing 3 (FHOD3) may have a role in the pathogenesis of cardiac hypertrophy but has not been implicated in hypertrophic cardiomyopathy. OBJECTIVES: This study sought to investigate the relation between FHOD3 mutations and the development of hypertrophic cardiomyopathy. METHODS: FHOD3 was sequenced by massive parallel sequencing in 3,189 hypertrophic cardiomyopathy unrelated probands and 2,777 patients with no evidence of cardiomyopathy (disease control subjects). The authors evaluated protein-altering candidate variants in FHOD3 for cosegregation, clinical characteristics, and outcomes. RESULTS: The authors identified 94 candidate variants in 132 probands. The variants' frequencies were significantly higher in patients with hypertrophic cardiomyopathy (74 of 3,189 [2.32%]) than in disease control subjects (18 of 2,777 [0.65%]; p < 0.001) or in the gnomAD database (1,049 of 138,606 [0.76%]; p < 0.001). FHOD3 mutations cosegregated with hypertrophic cardiomyopathy in 17 families, with a combined logarithm of the odds score of 7.92, indicative of very strong segregation. One-half of the disease-causing variants were clustered in a small conserved coiled-coil domain (amino acids 622 to 655); odds ratio for hypertrophic cardiomyopathy was 21.8 versus disease control subjects (95% confidence interval: 1.3 to 37.9; p < 0.001) and 14.1 against gnomAD (95% confidence interval: 6.9 to 28.7; p < 0.001). Hypertrophic cardiomyopathy patients carrying (likely) pathogenic mutations in FHOD3 (n = 70) were diagnosed after age 30 years (mean 46.1 ± 18.7 years), and two-thirds (66%) were males. Of the patients, 82% had asymmetric septal hypertrophy (mean 18.8 ± 5 mm); left ventricular ejection fraction <50% was present in 14% and hypertrabeculation in 16%. Events were rare before age 30 years, with an annual cardiovascular death incidence of 1% during follow-up. CONCLUSIONS: FHOD3 is a novel disease gene in hypertrophic cardiomyopathy, accounting for approximately 1% to 2% of cases. The phenotype and the rate of cardiovascular events are similar to those reported in unselected cohorts. The FHOD3 gene should be routinely included in hypertrophic cardiomyopathy genetic testing panels.

Nueva mutación en el gen ALDH3A2 en un niño con síndrome de Sjögren-Larsson / A new mutation in the ALDH3A2 gene in a boy with Sjögren-Larsson syndrome

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[Health related problems as cause of visits to hospital emergency departments]. / Problemas de salud relacionados con los medicamentos en un servicio de urgencias hospitalario.

BACKGROUND AND OBJECTIVE: Medication-related problems (MRPs) are health problems resulting from patient pharmacotherapy failure that interfere with the expected outcome in the patient's health status. The aim of this study was to discover the health problems associated with the appearance of MRPs. PATIENTS AND METHOD: Patient interviews, together with the assessment of medical records were the sources of information used in the assessment and identification of MRPs. A validated questionnaire was used for the interviews; in order to classify the health problems found, the ICD-9 was used. RESULTS: 2,556 patients were interviewed over a period of one year at a hospital emergency department. 2,261 of these cases were valid. Osteoarticular diseases, poorly defined signs and symptoms of illness, injuries and intoxications were the disorders most commonly associated with the appearance of MRPs. MRPs of necessity and effectiveness had a similar profile. MRPs of safety were more commonly associated with poorly defined signs and symptoms of illness, injuries and intoxications, as well as nervous, digestive and blood problems. CONCLUSIONS: Most frequent medication related health problems causing visits to hospital emergency departments were osteoarticular disorders, followed by poorly defined signs and symptoms of illness. Differences were observed in the diagnoses between the different dimensions and types of MRP.

Problemas de salud relacionados con los medicamentos en un servicio de urgencias hospitalario / Health related problems as cause of visits to hospital emergency departments

FUNDAMENTO Y OBJETIVO: Los problemas relacionados con los medicamentos (PRM) son problemas de salud que se producen como consecuencia de fallos de la farmacoterapia del paciente y que interfieren con los resultados esperados de salud. El objetivo de este trabajo es conocer los problemas de salud más frecuentes que constituyen PRM. PACIENTES Y MÉTODO: La entrevista con el paciente junto con la evaluación de la historia clínica son las principales fuentes de información para evaluar e identificar PRM. Se utilizó un cuestionario validado como instrumento para la entrevista y la CIE-9 para la clasificación de los problemas de salud encontrados. RESULTADOS: Se entrevistó a un total de 2.556 pacientes durante 1 año en el servicio de urgencias hospitalario, de los que se estudiaron 2.261 tras las exclusiones. Las enfermedades osteoarticulares, los signos y síntomas mal definidos y las lesiones y envenenamientos son los problemas más relacionados con la aparición de PRM. Los PRM de necesidad y efectividad mantienen un perfil similar. Los PRM de seguridad se asociaron más a signos y síntomas mal definidos y lesiones y envenenamientos así como a alteraciones nerviosas, digestivas y sanguíneas. CONCLUSIONES: Los PRM más frecuentes que son causa de consulta en un servicio de urgencias hospitalario son los osteoarticulares, seguidos de los signos y síntomas mal definidos. Se observan diferencias en los diagnósticos entre las distintas dimensiones de PRM y sus tipos

BACKGROUND AND OBJECTIVE: Medication-related problems (MRPs) are health problems resulting-from patient pharmacotherapy failure that interfere with the expected outcome in the patient’s health status. The aim of this study was to discover the health problems associated with the appearance of MRPs. PATIENTS AND METHOD: Patient interviews, together with the assessment of medical records were the sources of information used in the assessment and identification of MRPs. A validated questionnaire was used for the interviews; in order to classify the health problems found, the ICD-9 was used. RESULTS: 2,556 patients were interviewed over a period of one year at a hospital emergency department.2,261 of these cases were valid. Osteoarticular diseases, poorly defined signs and symptoms of illness, injuries and intoxications were the disorders most commonly associated with the appearance of MRPs. MRPs of necessity and effectiveness had a similar profile. MRP sof safety were more commonly associated with poorly defined signs and symptoms of illness, injuries and intoxications, as well as nervous, digestive and blood problems. CONCLUSIONS: Most frequent medication related health problems causing visits to hospital emergency departments were osteoarticular disorders, followed by poorly defined signs and symptoms of illness. Differences were observed in the diagnoses between the different dimensions and types of MRP