Expansion of the E138A mutation in newly diagnosed HIV-infected patients in Gran Canaria.

Molecular epidemiology allows us to know local HIV transmission and to design strategies of prevention. We studied 25 HIV newly diagnosed patients with the E138A mutation since the year 2010. Most transmission networks involved young and promiscuous men who have sex with men. Recent infection was only documented in patients grouped into the smaller clusters.

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.

We report a series of 14 patients from 11 kindreds with recessive partial (RP)-interferon (IFN)-γR1 deficiency. The I87T mutation was found in nine homozygous patients from Chile, Portugal and Poland, and the V63G mutation was found in five homozygous patients from the Canary Islands. Founder effects accounted for the recurrence of both mutations. The most recent common ancestors of the patients with the I87T and V63G mutations probably lived 1600 (875-2950) and 500 (200-1275) years ago, respectively. The two alleles confer phenotypes that are similar but differ in terms of IFN-γR1 levels and residual response to IFN-γ. The patients suffered from bacillus Calmette-Guérin-osis (n= 6), environmental mycobacteriosis (n= 6) or tuberculosis (n= 1). One patient did not suffer from mycobacterial infections but had disseminated salmonellosis, which was also present in two other patients. Age at onset of the first environmental mycobacterial disease differed widely between patients, with a mean value of 11.25 ± 9.13 years. Thirteen patients survived until the age of 14.82 ± 11.2 years, and one patient died at the age of 7 years, 9 days after the diagnosis of long-term Mycobacterium avium infection and the initiation of antimycobacterial treatment. Up to 10 patients are currently free of infection with no prophylaxis. The clinical heterogeneity of the 14 patients was not clearly related to either IFNGR1 genotype or the resulting cellular phenotype. RP-IFN-γR1 deficiency is, thus, more common than initially thought and should be considered in both children and adults with mild or severe mycobacterial diseases.

Mumps orchitis in the post-vaccine era (1967-2009): a single-center series of 67 patients and review of clinical outcome and trends.

Since the introduction of the mumps vaccine, the age of appearance of mumps infection has shifted from children to adolescents and young adults, groups with a higher incidence of disease complications and sequelae. During the years 2000-2001, the Gran Canaria Island was part of an epidemic of mumps. In that period, our institution attended 67 cases of serologically confirmed acute mumps orchitis, the most serious complication of mumps infection in young postpubertal males. We conducted a descriptive and prospective study of this cohort and extensively reviewed the literature from 1967 (the year the first mumps vaccine was introduced) to 2009. Fifty-six patients were admitted because of general impairment and were treated with alpha-interferon. Sixty-six patients presented parotitis previous to orchitis (interval from parotitis to orchitis, 4.9 d). Orchitis was unilateral in 89.5% and bilateral in 10.4% of cases. More than 98% of patients had orchitis-associated fever. Nine patients had clinical and biochemical data showing acute mumps meningitis, and 11 had subclinical pancreatitis. The mean duration of symptoms was 4.6 days (range, 1-9). During the acute phase, more than 41% of the evaluated testes had a volume >25 mL. Acute hormonal disturbances were highly prevalent. These included decreased levels of testosterone and inhibin B with low or normal levels of gonadotropins in 35% of subjects, and, to our knowledge not previously reported, an atypical hormonal pattern consisting of low levels of free testosterone and inhibin B, along with increased measures of luteinizing hormone but low or normal follicle-stimulating hormone levels (11% of cases). During the follow-up period (mean, 331 d) a high incidence of sperm disturbance was found.

[Spanish recommendations for proper use of enfuvirtide]. / Recomendaciones españolas sobre el uso adecuado de enfuvirtida.

Enfuvirtide is a high-cost, parenterally administered drug commonly used in late phases of HIV infection, when its efficacy may be compromised. To optimize enfuvirtide use, consensus recommendations for this purpose have been formulated by 247 physicians attending patients with HIV infection in Spain. A literature review was performed in which grades of evidence and recommendations were defined according to the origin of the data (randomized clinical trials, non-randomized studies, expert opinion). Twenty-eight local consensus meetings were held between May and September 2005 to discuss the most important aspects related to the use of enfuvirtide, following a pre-established system used in all the meetings. The main conclusions were as follows: a) enfuvirtide use is often excessively delayed and is given to patients with little chance of treatment success; b) enfuvirtide is indicated in patients who require antiretroviral treatment and for whom an optimum treatment with three other fully effective drugs cannot be designed; c) the most important prognostic factor is the availability of at least one other completely active drug; d) there is no infallible method to avoid the development of local reactions, but measures are available to decrease their incidence and severity; and e) patient counseling and training for correct administration of the drug are essential to improve adherence, the repercussions of local reactions and, of course, the efficacy of the treatment.

Murine typhus with renal involvement in Canary Islands, Spain.

Murine typhus and "murine-typhus-like" disease are reemerging infectious diseases. In Canary Islands (Spain), a rather distinct clinical pattern characterized by higher incidence of complications, especially renal damage (including acute failure and urinalysis abnormalities), is apparent and highly suggestive. It could be related to different strains of Rickettsia typhi or other cross-reactive species.

Streptococcus bovis bacteremia from a venous access port in a patient with AIDS.

We report the first case of S. bovis bacteremia related to endoluminal colonization of a venous access port in a setting of advanced HIV infection, neutropenia and co-infection with HBV. The patient had no bowel abnormalities. The clinical picture was mild and was resolved by removal of the device.