[Prevalence and clinical characteristics of pain in patients with advanced chronic disease]. / Prevalencia y características clínicas del dolor en pacientes con enfermedad crónica avanzada.

OBJECTIVES: Determine pain prevalence and clinical characteristics in patients with advanced chronic disease and identify breakthrough pain frequency. DESIGN: Observational, descriptive, cross-sectional study. LOCATION: Three primary care teams and one intermediate care hospital. PARTICIPANTS: All patients with advanced chronic disease. MAIN MEASUREMENTS: A semi-structured interview was performed to collect demographic, clinical, and specific variables of pain using validated scales. Patient location (home, nursing home or hospital) and advanced chronicity trajectory (organ failure, oncological disease, dementia, or multimorbidity) were recorded. Pain was assessed based on the Brief Pain Inventory (BPI) and, in cases of disabling dementia, using the Pain Assessment in Advanced Dementia (PAINAD). A statistical descriptive, comparative analysis between variables was performed using the R software. RESULTS: Of all patients selected, 223 (60.4%) were included. Prevalence of pain: 83.9% (n=187), with no differences based on location or trajectory. Significant differences in pain intensity based on location (P=.0046) (moderate-severe in patients at home, moderate in hospital patients, and mild in nursing home patients) and on trajectory (P<.0001) (moderate-severe in patients with organ failure and multimorbidity, moderate in patients with cancer, and mild in patients with dementia). Global functional impact of pain was mild-moderate, emotional impact was severe in 41.5% of patients (n=51), and breakthrough pain was observed in 8.6% (n=13). CONCLUSIONS: Pain must always be explored and assessed in patients with advanced chronicity, since it was highly prevalent in all locations and trajectories, being particularly intense in patients at home with organ failure and multimorbidity. Breakthrough pain was found in non-oncological trajectories.

Haplotype tagging efficiency in worldwide populations in CTLA4 gene.

The cytotoxic T lymphocyte antigen 4 (CTLA4) acts as a potent negative regulator of T-cell response, and has been suggested as a pivotal candidate gene for autoimmune disorders such as Graves' disease, type 1 diabetes and autoimmune hypothyroidism, among others. Several single-nucleotide polymorphisms (SNPs) have been proposed as the susceptibility variants, or to be in strong linkage disequilibrium (LD) with the variant. Nevertheless, contradictory results have been found, which may be due to lack of knowledge of the genetic structure of CTLA4 and its geographic variation. We have typed 17 SNPs throughout the CTLA4 gene region in order to analyze the haplotype diversity and LD structure in a worldwide population set (1262 individuals from 44 populations) to understand the variation pattern of the region. Allele and haplotype frequency differentiation between populations is consistent with genomewide averages and points to a lack of strong population-specific selection pressures. LD is high and its pattern is not significantly different within or between continents. However, haplotype composition is significantly different between geographical groups. A continent-specific set of haplotype tagging SNPs has been designed to be used for future association studies. These are portable among populations, although their efficiency might vary depending on the population haplotype spectrum.

Variation of the prion gene in chimpanzees and its implication for prion diseases.

In humans, familial prion diseases are linked to mutations in the PRNP gene. We have sequenced part of this gene in a large sample of common chimpanzee, Pan troglodytes (n=130 chromosomes). No variation in codons 129 and 219 has been observed: all chimpanzees were homozygous for the Met allele, which in humans increases susceptibility to Creutzfeldt-Jakob disease. We found two sequence variants: one is a synonymous polymorphism unique to the chimpanzee at codon 226, TAC to TAT (Y), with a TAC allele frequency of 80.6%; the other is a non-synonymous change at codon 148 (R148H) that falls in the target epitope for some common commercial antibodies used for prion diagnostics, and is highly conserved across species. The pathogenicity of this mutation is still unknown.

Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes.

Spinocerebellar Ataxia 8 (SCA8) is a neurodegenerative disorder caused by expansion of a trinucleotide repeat. We undertake a comparative genetic analysis among human populations and primate species in the normal variation range, where forces that shaped present diversity can be recognised. We determinate number of repeats of the short tandem repeat through allele length sizing and sequencing methods. Human allele distributions are very similar among populations, ruling out ethnicity as a genetic risk for allele expansion. Primate comparison shows human-specific features, with longer human alleles due to a novel variable trinucleotide repeat, not present in non-human primates, which increased the disease-causing expansion likelihood. SCA8 seems to be a human specific disease.

[Family planning: a need in primary care]. / Planificación familiar: una necesidad en atención primaria.

The reformation of Primary Care (PC) permits a more satisfactory and coordinated approach to family planning (FP). We evaluated the profile of the potential users of FP by means of a survey of 182 females made in a Primary Care center (CAP). The most commonly used contraceptive methods were oral contraceptives (20.3%), coitus interruptus (Cl) (18%), condom (17%) and female sterilization (12.6%). 66.6% of failures were attributed to Cl. 32.25% of the intrauterine device users and 24.4% of those taking oral contraceptives reported problems. 24.7% of females were controlled in the CAP II, 19.7% by their private gynecologist, 16.5% in the municipal CP and 6% in the CAP. 30.2% of the users did not follow and type of control.

[Seroepidemiology of toxoplasmosis in 2 communities of Rwanda (Central Africa)]. / Sero-epidemiologia de la toxoplasmosis en dos comunidades de Rwanda (Africa Central).

We collected dry blood specimens from two rural areas in Rwanda, that were tested for antibodies to Toxoplasma gondii through the Direct Agglutination technique. 50% of the adults in both communities had antibodies to T. gondii. The Ngenda (NGD) population apparently acquired antibodies at a later stage of its life (only 12% were positive at 14 years of age). The Nyarutovu (NVU) population already showed a 31% positivity at the same age. We would like to point out the pathogenic role played by toxoplasmosis during pregnancy and the need of new studies about the epidemiology of the disease as well as the transmission mechanism in Rwanda.

[Pharmacoresistance of Plasmodium falciparum in Rwanda: an in vivo study]. / Pharmacorésistance de Plasmodium falciparum au Rwanda: une étude in vivo.

During the period of June to October 1985, a study in vivo was made on 162 patients suffering from malaria by P. falciparum, in order to evaluate the sensitivity of the parasite to the drugs: Chloroquine, Amodiaquine and Pyrimethamine-Sulfadoxine (Fansidar). As an alternative treatment, in the resistant cases, Quinine with Fansidar or Quinine with Tetracycline was given. The following cases of resistance were found: 17 cases to Chloroquine (5-RI, 9-RII, 3-RIII), 7 cases to Amodiaquine (5-RI, 2-RII) and 2 cases to Fansidar (1-RI, 1-RII). It is recommended that the epidemiologic studies of the resistance by P. falciparum to the anti-malarials be increased, following up the evolution of its scope, and the organization of a program to fight against malaria. Also the use of Fansidar is recommended as the principal medicine against P. falciparum in malaria without complications, in the zones where there is strong resistance to the 4-amino-quinoleines. In case of multi-resistance in malaria by P. falciparum, the use of Quinine is recommended. At a prophylactic level we do not advise the use of Chloroquine as the only medicine, nor the use of Fansidar because of its potential toxic effects.