Programa de atención farmacéutica integrada en pacientes con enfermedades crónicas

ObjectivesTo assess whether an integrated pharmaceutical care programme (IPCP) improves clinical evolution, patient quality of life, and reduces health costs in chronic patients.Material and methodsA parallel, open, and multi-centre clinical trial of an IPCP in patients with heart failure (HF) and/or chronic obstructive pulmonary disease (COPD) in 8 different health areas in Cataluña. The intervened patient was monitored for pharmacotherapeutic evolution by hospital pharmacists, primary care physicians, and community pharmacists. Controls received normal follow-up. All patients were monitored for 12 months, with quality of life tests administered at the beginning and end of follow-up.ResultsWe had the participation of 8 different hospitals, 8 primary care centres, and 109 community pharmacies. 238 patients completed the study, with 2.9% of participants lost during the study period. There were no significant differences in terms of readmissions, visits to the doctors, or to emergency services. We detected 50 different medication-related problems (MRP) in 37 patients, with a statistically significant difference in terms of MRP between the control and treatment groups of patients with HF, and almost significant differences in COPD patients. MRP were moderate-severe in 36% of cases. MRP were avoidable in 94% of cases, and the pharmacist resolved the issue in 90% of cases. There were no differences in terms of patient quality of life or health costs between the start and end of the study.ConclusionsIntegrated pharmaceutical care programs facilitate an improvement in the quality of patient care, but electronic registries are necessary to promote communication between sections of the health care network.     

Medical audit on children with asthma in an Emergency Department

ObjectiveTo carry out a medical audit or evaluation and improvement procedure on the management of children with asthmatic crises in our Emergency Department (ED).Material and methodsWe carried out a retrospective audit between January and March 2007, analysing the medical records of a random sample of 50 patients aged 2–14 years consulting our ED for asthmatic crises. Following the international guides, we first selected 17 explicit indicators divided into four domains: “evaluation”, “examination”, “diagnostic resources”, and “treatment and conditions at discharge”.ResultsIndicators’ compliance proved unequal; it was scarce for cause of asthma crisis (32%); degree of severity (18%); and supportive treatment (24%). Auscultation was registered in 100%, but respiratory frequency only in 49%, and peak flow in 0%. A total of 78% of the patients were treated in the ED, in all cases with beta-mimetic agents, and with systemic corticosteroids in 12%. The result of treatment was registered in only 69% of cases. The medical documentation of resident doctors was not signed by the staff.ConclusionsWe identified the following weak points: failure to determine the degree of severity; lack of specification of the details of the crisis (prior duration, treatment at home, supportive treatment); scant asthma background history; and deficient recording of respiratory frequency and peak flow. We propose improving the anamnesis, recording respiratory frequency, with the introduction of tools to measure peak flow, specification of treatment response, and the development of a simpler and more practical protocol, with the performance of a re-audit.     

Candidate predisposing germline copy number variants in early onset colorectal cancer patients

Purpose

A great proportion of the heritability of colorectal cancer (CRC) still remains unexplained, and rare variants, as well as copy number changes, have been proposed as potential candidates to explain the so-called ‘missing heritability’. We aimed to identify rare high-to-moderately penetrant copy number variants (CNVs) in patients suspected of having hereditary CRC due to an early onset.

Methods/patients

We have selected for genome-wide copy number analysis, 27 MMR-proficient early onset CRC patients (<50 years) without identifiable germline mutations in Mendelian genes related to this phenotype. Rare CNVs were selected by removing all CNVs detected at MAF >1% in the in-house control CNV database (n = 629 healthy controls). Copy number assignment was checked by duplex real-time quantitative PCR or multiplex ligation probe amplification. Somatic mutation analysis in candidate genes included: loss of heterozygosity studies, point mutation screening, and methylation status of the promoter.

Results

We have identified two rare germline deletions involving the AK3 and SLIT2 genes in two patients. The search for a second somatic mutational event in the corresponding CRC tumors showed loss of heterozygosity in AK3, and promoter hypermethylation in SLIT2. Both genes have been previously related to colorectal carcinogenesis.

Conclusions

These findings suggest that AK3 and SLIT2 may be potential candidates involved in genetic susceptibility to CRC.

     

Spontaneous colonic perforation: a rare complication of collagenous colitis

Collagenous colitis is a clinicopathologic syndrome characterized by chronic watery diarrhea and unique histopathologic features. Spontaneous colonic perforation in the setting of collagenous colitis is a highly unusual complication, with only three cases reported in the literature to date. We present a fourth case and propose a potential pathologic mechanism for acute colonic perforation in this patient population.     

Experimental infection with high‐ and low‐virulence strains of border disease virus (BDV) in Pyrenean chamois (Rupicapra p. pyrenaica) sheds light on the epidemiological diversity of the disease

Since 2001, Pyrenean chamois (Rupicapra pyrenaica pyrenaica) populations have been affected by border disease virus (BDV) causing mortalities of more than 80% in some areas. Field studies carried out in France, Andorra, and Spain have shown different epidemiological scenarios in chamois populations. This study was designed to confirm the presence of BDV strains of a high and low virulence in free‐ranging chamois populations from Pyrenees and to understand the implications of these findings to the diverse epidemiological scenarios. An experimental infection of Pyrenean chamois with a high‐virulence (Cadí‐6) and low‐virulence (Freser‐5) BDV strains was performed. Pregnant and non‐pregnant animals with and without antibodies against BDV were included in each group. Cadí‐6 BDV strain was confirmed to be of high virulence for seronegative adults and their foetuses. The antibody negative chamois infected with Freser‐5 BDV strain did not show symptoms, presented less viral distribution and RNA load in tissues than Cadí‐6 group, and cleared the virus from the serum. However, foetuses died before the end of the experiment and RNA virus was detected in sera and tissues although with lower RNA load than the Cadí‐6 group. Chamois from both groups presented lesions in brain but the ones infected with the low‐virulence Freser‐5 BDV strain were mild and most likely transient. In both groups, seropositive pregnant females and all but one of their foetuses did not present viraemia or viral RNA in tissues. The existence of a low‐virulence strain has been confirmed experimentally and related to chamois population infection dynamics in the area where it was isolated. Such strain may persist in the chamois population through PI animals and may induce cross‐protection in chamois against high‐virulence strains. This study demonstrates that viral strain diversity is a significant factor in the heterogeneity of epidemiological scenarios in Pyrenean chamois populations.