Calculating daily dose in the Observational Medical Outcomes Partnership Common Data Model

Purpose: We aimed to develop a standardized method to calculate daily dose (i.e., the amount of drug a patient was exposed to per day) of any drug on a global scale using only drug information of typical observational data in the Observational Medical Outcomes Partnership Common Data Model (OMOP CDM) and a single reference table from Observational Health Data Sciences And Informatics (OHDSI). Materials and Methods: The OMOP DRUG_STRENGTH reference table contains information on the strength or concentration of drugs, whereas the OMOP DRUG_EXPOSURE table contains information on patients' drug prescriptions or dispensations/claims. Based on DRUG_EXPOSURE data from the primary care databases Clinical Practice Research Datalink GOLD (United Kingdom) and Integrated Primary Care Information (IPCI, The Netherlands) and healthcare claims from PharMetrics® Plus for Academics (USA), we developed four formulas to calculate daily dose given different DRUG_STRENGTH reference table information. We tested the dose formulas by comparing the calculated median daily dose to the World Health Organization (WHO) Defined Daily Dose (DDD) for six different ingredients in those three databases and additional four international databases representing a variety of healthcare settings: MAITT (Estonia, healthcare claims and discharge summaries), IQVIA Disease Analyzer Germany (outpatient data), IQVIA Longitudinal Patient Database Belgium (outpatient data), and IMASIS Parc Salut (Spain, hospital data). Finally, in each database, we assessed the proportion of drug records for which daily dose calculations were possible using the suggested formulas. Results: Applying the dose formulas, we obtained median daily doses that generally matched the WHO DDD definitions. Our dose formulas were applicable to >85% of drug records in all but one of the assessed databases. Conclusion: We have established and implemented a standardized daily dose calculation in OMOP CDM providing reliable and reproducible results

Uso de la prueba de rupturas cromosómicasen el estudio de la anemia de Fanconi: Preliminary results Use of the chromosome rupture test in the study of Fanconi's anemia

La anemia de Fanconi es un desorden genético recesivo con ambos patrones de herencia, autosómico y ligado al sexo, caracterizada por diferentes malformaciones congénitas, fallo de médula ósea y una elevada predisposición a desarrollar tumores sólidos y leucemia mieloide aguda. Es una enfermedad monogénica con expresión citogenética dada por inestabilidad cromosómica tanto espontánea como provocada por agentes inductores de enlaces cruzados en las cadenas de ADN. Se presentan 2 pacientes masculinos, hermanos, de 5 y 7 años de edad, con malformaciones congénitas e insuficiencia medular. Se les realizó el estudio de rupturas cromosómicas con el uso del diepoxibutano y se observaron múltiples rupturas y figuras radiales, lo que confirmó el diagnóstico.Fanconi's anemia is a recurrent genetic disorder with both patterns of heredity, autosomal and linked to sex. It is characterized by different congenital malformations, bone marrow failure and an elevated predisposition to develop solid tumors and acute myeloid leukemia. It is a monogenic disease with cytogenetic expression given by chromosomal instability, both spontaneous and provoked by agents inducing cross-links in the DNA chains. Two male siblings aged 5 and 7 years old, with congenital malformations and medullar insufficiency were presented. The study of chromosome rupture was conducted by using diepoxybutane. Multiple ruptures and radial figures were observed, which confirmed the diagnosis