Publications by authors named "Isabel Fernández-Fernández"

Aim: To understand the expectations held by type 1 and 2 diabetes mellitus (DM 1 & 2) patients and their relatives regarding the health-care provided to them.

Design: qualitative. Focus groups.

Setting And Participants: Andalusia. A theoretical sample that includes the most characteristic profiles. Thirty-one subjects with DM. segmentation characteristics receiving health-care for DM in Primary or Specialized care, living in urban and rural areas, men and women, age, varying diagnosis times, DM course and consequences. Subjects were recruited by health-care professionals at reference care centres.

Results: Patients expect their health-care professionals to be understanding, to treat them with kindness and respect, to have good communication skills, to provide information in a non-authoritarian manner while fully acknowledging patients' know-how. Regarding the health-care system, their expectations focus on the system's ability to respond when required to do so, through a relevant professional, along with readily available equipment for treatment. The expectations of people affected by DM1 focus on leading a normal life and not having their educational, labour, social and family opportunities limited by the disease. Expectations in people with DM2 tend towards avoiding what they know has happened to other patients.

Conclusions: 'Facilitating', is a key word. Both the health-care system and its professionals must pay keener attention to the emotional aspects of the disease and its process, adopting a comprehensive approach to care. It is vital that health-care professionals take an active interest in the course of their patient's disease, promoting accessibility and an atmosphere of trust and flexibility.

Objectives: To know the experiences and expectations of diabetes mellitus type 1 (DM1) patients and their relatives as regards the relationships established with doctors, and the impact of such relationships on their strategies to cope with the disease and treatment.

Design: Qualitative design based on focus groups conducted in 2001.

Location: Several health care centres in Granada and Seville, Spain.

Participants: DM1 patients and their relatives and/or carers.

Method: Theory-based sampling including the most representative profiles. Qualitative analysis procedure: text coding, triangulation and interpretation of results.

Results: Doctor/patient relationship highly influences the emotional experience of disease and the way patients gain control over it. Interviewed patients said that the relationship with doctors is focused on disease signs and symptoms, leaving emotional aspects aside. Very often, provider communication is built on recrimination and threat. Treatment is imposed rather than agreed, with scarce opportunities for participating in clinical decisions. Patients develop strategies to take their own decisions and adapting treatment to their daily life.

Conclusions: Patients value a relationship model whereby providers listen and empathise with their situation, understand their difficulties in treatment compliance, encourage them, and adapt recommendations to the personal and emotional circumstances of each patient. They prefer doctors combining professional competence-including relational skills-with humanity and kindness, as well as being capable of assuming their co-responsibility in treatment success.

Objectives: To evaluate the presence of diabetes mellitus (DM) or short-term alterations in glucose metabolism, obesity and vascular risk factors after birth in women with pregnancy metabolic syndrome (PMS). To evaluate the incidence of obesity, lipaemia, glucaemia disorder, blood pressure (BP), or lipid figures in the period after birth in children of women with PMS. DESIGN. Cohort study. SETTING. Forty two primary care centres.

Participants: Study cohort (SC): women with PMS and their children. Control cohort (CC): women without primary criteria of PMS and their children.

Sample Size: SC, 980 women and CC, also 980. Consecutive sampling.

Measurements: Mother: basic data, 75 g oral overload, lipid profile, insulinaemia, toxic habits, nutrition survey, and physical activity. Child: weight, height, BP, nutrition survey, glucaemia, insulinaemia, and lipid profile. Father: basic data, BP, glucaemia, lipid profile, insulinaemia, toxic habits, nutrition survey, and physical activity. We will study genes related to insulin resistance in all subjects.

Statistical Analysis: Comparison of proportions with *2 test; ANOVA to measure means. Evaluation of effect of intra-uteral exposure through logistical regression and COX regression, whilst controlling potentially confusing and interactive variables.

Discussion: This study will contribute to locating the moment when diabetes and vascular risk start and to finding the optimum moment for starting prevention strategies.

In this work, we analyzed the sequence diversity of the mtDNA control region (HVI and HVII) in a sample of 48 individuals from Swanetia (Georgia), using direct fluorescent-based sequencing methods. We identified 43 different mtDNA haplotypes resulting from 78 polymorphic sites (46 in HVI and 32 in HVII). Most of the variable positions identified in both HVI and HVII were transitions (82.6 and 71.9%, respectively). The frequency of length heteroplasmy in the homopolymeric C-stretch regions was the same for both segments (10.4%). The sequence diversity increased markedly when both hypervariable regions were analyzed jointly (HVI: 0.985, HVII: 0.975, HVI+HVII: 0.994). Accordingly, the probability of two randomly selected sequences matching (random match probability, RMP) decreased from 3.4% (HVI) to 2.6% (HVI+HVII), despite which the RMP values in Georgians remained higher than estimated in most Europeans. This suggests that the variability of maternal lineages tends to be lower in traditional human isolates and, therefore, the potential of discrimination of mtDNA in forensic analysis is more limited in this type of population. The incorporation of HVII data also contributed to the refinement of results regarding the genetic relationships among the samples included in the analyses, which stress the importance of considering HVII in both population and forensic genetics.

Objective: Describing the situation of diabetes mellitus (DM) in Spain from a public health perspective.

Material And Method: manual review of books and other documents on diabetes mellitus in Spain was conducted. In addition, a specific research of articles published using MeSH terms diabetes mortality, prevalence, incidence, cost, inequalities and Spain was conducted in Medline through Internet (PubMed). Minimun Basic Data Set was utilized as source for complication description by Communities Autonomus.

Results: DM is one of the leading cause of mortality and the third one in women. With regard to Autonomous Communities, Canary Islands, Ceuta y Melilla and Andalusia show the greatest mortality with a downward trend. Diabetics present greater mortality than non diabetic patients, being complications the main cause of the over-mortality, especially ischemic heart disease. Estimations of prevalence for DM2 range from 4.8% to 18.7% and for DM1, from .08% to .2%. In pregnancy, it has been noted a prevalence ranging from 4.5% to 16.1%. With respect to incidence per year, it is estimated a range from 146 to 820 per 100,000 inhabitants for DM2 and a range from 10 to 17 new cases annually per 100,000 inhabitants for DM1. Costs for DM1 show very different results, averaging between 1,262 and 3,311 euro per people and year. There are differences for DM2 costs as well, averaging between 381 and 2,560 euro per patient and year. Total costs estimated range from 758 to 4,348 euro per person and year. Relationship between a low socioeconomic level (LSL) and DM2 risk has been proved. Moreover, it has been noted that the less LSL the worse is the disease control, coupled with a greater frequency and more frequent factors of DM2 risk.

Conclusions: The knowledge about the situation of the DM as a Public Health problem in Spain is limited. Mortality data available does not gather its real magnitude, and prevalence, incidence, costs and inequalities research are very poor and hardly comparable. In spite of this degree of incertitude, we can state that DM is an important public health problem with a continuous increase, especially DM2, if the appropriate prevention and control measures are not taken.

We report the results of the Spanish and Portuguese working group (GEP) of the International Society for Forensic Genetics (ISFG) Collaborative Exercise 2002-2003 on mitochondrial DNA (mtDNA) analysis. Six different samples were submitted to the participating laboratories: four blood stains (M1-M2-M3-M4), one mixture blood sample (M5), and two hair shaft fragments (M6). Most of the labs reported consensus results for the blood stains, slightly improving the results of previous collaborative exercises. Although hair shaft analysis is still carried out by a small number of laboratories, this analysis yielded a high rate of success. On the contrary, the analysis of the mixture blood stain (M5) yielded a lower rate of success; in spite of this, the whole results on M5 typing demonstrated the suitability of mtDNA analysis in mixture samples. We have found that edition errors are among the most common mistakes reported by the different labs. In addition, we have detected contamination events as well as other minor problems, i.e. lack of standarization in nomenclature for punctual and length heteroplasmies, and indels. In the present edition of the GEP-ISFG exercise we have paid special attention to the visual phylogenetic inspection for detecting common sequencing errors.

We report the results of Spanish and Portuguese working group (GEP) of International Society of Forensic Genetics (ISFG) Collaborative Exercise 2001-2002 on mitochondrial DNA (mtDNA) analysis. 64 laboratories from Spain, Portugal and several Latin-American countries participated in this quality control exercise. Five samples were sent to the participating laboratories, four blood stains (M1-M4) and a sample (M5) consisting of two hair shaft fragments. M4 was non-human (Felis catus) in origin; therefore, the capacity of the labs to identify the biological source of this sample was an integral part of the exercise. Some labs detected the non-human origin of M4 by carrying out immuno-diffussion techniques using antihuman serum, whereas others identified the specific animal origin by testing the sample against a set of animal antibodies or by means of the analysis of mtDNA regions (Cyt-b, 12S, and 16S genes). The results of the other three human blood stains (M1-M3) improved in relation to the last Collaborative Exercises but those related to hairs yielded a low rate of success which clearly contrasts with previous results. As a consequence of this, some labs performed additional analysis showing that the origin of this low efficiency was not the presence of inhibitors, but the low quantity of DNA present in these specific hair samples and the degradation. As a general conclusion the results emphasize the need of external proficiency testing as part of the accreditation procedure for the labs performing mtDNA analysis in forensic casework.