We report a patient with a mild form of the Baller-Gerold syndrome (craniosynostosis-radial aplasia syndrome). The patient, a 3-year 3 month-old boy, has trigonocephaly with bilateral absent radii and thumbs. His growth parameters and psychomotor development have been normal. No visceral anomalies were found. This patient represents a new case of the rare mild form of the syndrome.
We report a patient with a mild form of the Baller-Gerold syndrome (craniosynostosis-radial aplasia syndrome). The patient, a 3-year 3 month-old boy, has trigonocephaly with bilateral absent radii and thumbs. His growth parameters and psychomotor development have been normal. No visceral anomalies were found. This patient represents a new case of the rare mild form of the syndrome.
BackgroundPoor adherence to medical treatment represents a major issue in elderly population. It compromises the effectiveness of treatment making this a critical issue in population health.PurposeThe aims were to assess if the SMAQ questionnaire (SQ) is a reliable adherence measurement tool, to identify predictor factors of non-adherence and to investigate the relation between adherence and hospital readmissions in a cohort of patients.Material and methodsWe recruited patients aged >65 years, receiving polypharmacy (more than 4 drugs), in the trauma ward, from 1 April 2014 to 31 August 2015. Adherence was assessed with the SQ and a clinical interview (CI). A patient was considered adherent (AP) if adherence was verified both in the SQ and CI, and non-adherent (N-AP) as follows: SQ non-adherent patient (S-N-AP) when non-adherence was detected only in the SQ and CI non-adherent patient (CI-N-AP) if non-adherence was not detected in the SQ but was detected in the CI. Demographic, clinical variables and hospital readmissions over 3 months were collected. Statistical analysis was performed with the SPSS program: χ2 test for qualitative, ANOVA test for quantitative variables.Results245 patientst were enrolled. 213 (86.9%) completed the survey (SQ and CI). Mean age was 80.23 years (range 65–95). 25.3% were male and 61.6% female. The majority of diagnoses were hip (51.4%) and knee lesions (19.6%). 26.5% lived without caregiving. The main comorbidities were arterial hypertension (79.3%), 34.7% diabetes and 29.1% dislipidemia. 180 patients (84.5%) were AP and 33 (15.5%) were N-AP: 11 (5.2%) were S-N-AP and 22 (10.3%) were CI-N-AP. There were no factors significantly associated with medication adherence (sex, number of chronic drugs or comorbidities). Hospital readmissions were higher in N-AP (15.2% vs 7.8%) but the difference was not statistically significant.ConclusionNon-adherence is a real problem for older patients receiving polypharmacy. Interventions to target patient adherence should take this into account. No clear indicators of non-adherence were identified. Future researchers should consider other possible factors. The SQ alone, without other adherence measurements, is not an appropriate tool for this group of patients due to the fact that it failed to detect CI-N-AP, which represented 66.7% of N-AP.No conflict of interest.
BackgroundThe goal of optimisation is the individualisation of treatments, guaranteeing the lowest effective dose and an adequate safety profile, minimising associated costs. An optimisation strategy is to extend the dosing interval.PurposeThe main objective was to evaluate the optimisation of biological therapies and their associated cost savings.Material and methodsA retrospective, observational and descriptive study of the optimisation of biological therapies used in autoimmune digestive, dermatologic and rheumatic diseases during 1 year (2016) has been done.The standard treatment regimen of these drugs are: etanercept 50 mg/weekly, adalimumab 40 mg/fortnightly, ustekimumab 45 mg/12 weeks, infliximab 5 mg/Kg/8 weeks, except in rheumatoid arthritis (RA), 3 mg/kg/8 weeks.The cost saving achieved was calculated by comparing the total cost of doses administered in a year to the total cost of doses which would have been administered if the drug was not optimised. Doses adjusted by weight for infliximab were calculated for each patient.ResultsDuring the study period, 276 patients were analysed. (39% inflammatory bowel disease (IBD), 27% RA, 19% ankylosing spondylitis (AS), 5% psoriatic arthritis (PA), 5% psoriaisand 5% other autoimmune diseases (OAD)). Fifty-five patients were optimised (20%).From all optimised patients, optimisation according to diagnosis was: RA (44%), AS (22%), IBD (15%), PA (9%), psoriasis (5%) and OAD (5%).The treatment optimisation regimen used were:Etanercept (49%): 50 mg/10 days (37%); 50 mg/fortnightly (29%); 50 mg/21 days (26%); 50 mg/monthly (4%); 50 mg/8 days (4%).Adalimumab (35%): 40 mg/21 days (58%); 40 mg/monthly (27%); 40 mg/18 days (5%); 40 mg/45 days (5%); 40 mg/56 days (5%).Ustekimumab (5%): 45 mg/16 weeks (67%); 45 mg/13 weeks (33%).Infliximab (11%): 5 mg/kg/10 weeks (50%); 5 mg/kg/11 weeks (33%); 5 mg/kg/12 weeks (17%).A cost saving of €6 42 637 was achieved in 2016.ConclusionA higher optimisation rate was found in RA. Etanercept was the most optimised drug. The most commonly used optimisation treatment regimen was adalimumab 40 mg/21 days. During the study period, optimised patients had disease remission. This strategy shows many advantages from the point of view of safety, life quality of patients and the saving in healthcare costs.No conflict of interest
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