Detection of new mutations and molecular pathology of mild and moderate haemophilia A patients from southern Brazil.

A total of 76 unrelated male patients with mild (n = 55) or moderate (n = 21) haemophilia A living in the southern Brazilian state of Rio Grande do Sul were studied by direct sequencing of all F8 26 exons, the 5' UTR and 3' UTR, intron-exon junctions and the promoter region. When no mutation was found, a multiplex ligation-dependent probe amplification analysis was performed. We identified the disease-causing mutations in 69 patients, who showed 33 different mutations: 27 missense, one small deletion, two small duplications and three splice site mutations. Seven missense and two splice site mutations were not previously reported in HAMSTeRS and were not identified in any current literature search. Nine recurrent mutations were found, one of them never described before (p.Tyr1786Phe). Haplotype analysis indicated that this mutation had originated in the Brazilian population as a single event in a common ancestor. The possible influence of these mutations in the determination of the disease was carefully considered, including bioinformatic tools. These data add to the general knowledge of the disease and can also be useful for HA diagnosis and detection of carriers in the southern Brazilian population.

[The role of the pharmacist in patient education]. / Le pharmacien d'officine et son rôle dans l'education thérapeutique du patient.

Interdisciplinary programs promoting therapeutic education rarely involve the pharmacist, though his major contribution in the health care system and his multiple competencies are of a big help towards patients treatment adherence. As a regular patients confident, specially for those who require a long term treatment, the pharmacist deserves a better acknowledgment for his therapeutic reinforcement's contribution. A research work has been done in the field of therapeutic education to inscribe pharmacist's engagement in this topic. Instruments have been worked out to measure and to estimate relevant competencies used by pharmacists when answering patients needs. More open minded discussions and better rearrangement in the pharmacy in order to respect patients intimacy would contribute to enhance his competencies which are largely appreciated by the public.

Asthma outpatient education by multiple implementation strategy. Outcome of a programme using a personal notebook.

More than 10 years after publication, international guidelines remain poorly implemented. To better implement them, we need to develop new strategies adapted to the expectations of patients and health professionals outside hospital settings and to ensure better outpatient follow up in the community. We developed a bilingual education programme including a brochure designed to support an interdisciplinary health care network and measured hospitalisations (H), work absenteeism (WA), emergency visits (EV), asthma medication (AM) and quality of life (QL Juniper) before and 12 months after the intervention. All QL scores improved significantly in comparison with pre-intervention values. Health service use decreased dramatically when comparing the 12 months prior to and after the intervention(H: 35-8%, WA: 39-14%, EV: 88-53%). The final cost/benefit ratio of the programme was 1.96. Interdisciplinary implementation strategy of patient education is cost-effective, improves quality of life for asthmatics, and reduces strain on health services. Such a health care network does not require an expensive infrastructure and is better adapted to the reality and competences of clinical practice.

Mucormycosis--early diagnosis and treatment.

OBJECTIVE: The aim of this retrospective study was to analyse the data of patients with rhino-orbital-cerebral mucormycosis for predisposing factors, diagnosis, treatment and survival rate. The role of frozen section in early diagnosis and use of nasal endoscopy in diagnosis, treatment and follow-up of patients has also been examined. DESIGN: Retrospective case series. SETTING: University Teaching Hospital. METHODS: The case notes of 9 patients with diagnosis of mucormycosis who presented from 1973 to 2001 were examined. The data for predisposing factors, signs/symptoms, histological diagnosis, radiological intervention, medical and surgical treatment and final outcome was analysed. RESULTS: There were 9 patients with mucormycoses. Early diagnosis was made by endoscopic examination and frozen section in 5 patients, which was later confirmed by histology. Treatment included parental and/or local amphotericin, hyperbaric oxygen and debridement either by endoscopic or external approach, with or without orbital exenteration. This resulted in an overall survival of 5 patients. CONCLUSION: Frozen section diagnosis allows for early therapy since successful treatment depends on systemic amphotericin, surgical debridement and treatment of underlying predisposing factors. Nasal endoscopy is useful in diagnosis, endoscopic debridement and follow up of patients.

[Capillary puncture in children: a protocol]. / Punción capilar en pediatría. Un protocolo.

This article presents a synthesis of the "Nursing Protocol in Microextraction Procedures" which was developed in collaboration with nursing professionals in the Biochemical Laboratory and the Educational Department of the Maternity-Childcare Ward in the Vall d'Hebron Hospital in Barcelona. This synthesis states the different procedural steps to follow for capilary puncture microextraction in pediatrics, specifying the necessary materials and the role of the team in charge of these extractions. Furthermore, the problems caused by an incorrect microextraction are mentioned.