Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion.

Cystic fibrosis is a hereditary disease that mostly affects the sweat glands, respiratory system, digestive system, and reproductive system. Many and various types of mutations have been reported in CFTR in different ethnicities and countries/regions. Analysis of CFTR gene rearrangements is recommended in patients with unidentified mutated alleles in CFTR sequencing analysis. We collected MLPA analyses of 527 patients from Turkey who had at least one unidentified mutation in CFTR sequence analysis. Heterozygous/homozygous deletions were detected in the CFTR gene in 49 individuals (9.2%) from 35 families. Twelve different single/multi exon deletions were demonstrated, two of which were not previously reported in the literature. Mutations have previously reported in patients from various regions including Asia, Europe, and Africa, and Turkey is located at a crossroads between them. The most frequent mutation was the exon 2 deletion, accounting for 60%. Moreover, patients with exon 2 deletions, were especially originated from northern Turkey. This finding is valuable in leading and shaping planned screening programs in Turkey. Our study, the most comprehensive study for rearrangement analysis in patients from Tukey, revealed a candidate hotspot region of patients suspected of having CFTR-related disorders from Turkey.

Demographic and behavioural risk factors associated with Trichomonas vaginalis among South African HIV-positive men with genital ulcer disease: a cross-sectional study.

OBJECTIVES: Demographic and risky sexual behaviours may increase the risk for Trichomonas vaginalis (TV) infection and, thus, enhance HIV transmission to uninfected partners. We assessed the demographic and behavioural risk factors associated with TV among South African HIV-positive men with genital ulcer disease. METHODS: We conducted a cross-sectional study with data from a randomised controlled trial conducted by the Centers for Disease Control and Prevention and the London School of Hygiene and Tropical Medicine. The data were obtained from three primary healthcare clinics in South Africa. At baseline (n=387), participants reported on demographics, sexual behaviour, history of sexually transmitted infections and clinical ulcers. The outcome TV was measured using real-time multiplex PCR assays and a Rotor-gene 3000 platform from the first and past urine samples of all participants. Logistic regression model estimated ORs and 95% CIs adjusted for demographics, sexual risk behaviours and ulcer conditions. RESULTS: An estimated 11.4% of TV was detected among the men. The odds of TV infection were significantly associated with high blister counts (OR 4.0, 95% CI 1.6 to 28, p=0.01), ulcer pain (OR 0.4, 95% CI 0.2 to 0.7, p=0.003), number of days with ulcers (OR 0.4, 95% CI 0.2 to 0.8, p=0.006), sought treatment before coming into clinics (OR 0.07, 95% CI 0.002 to 0.7, p=0.005) and being unqualified worker (OR 2.5, 95% CI 0.9 to 6.7 p=0.05). Multivariate analyses revealed that increased days with ulcers (OR 0.1, 95% CI 0.04 to 0.5, p=0.002) and ulcer pain intensity (OR 0.08, 95% CI 0.007 to 1.1, p=0.05) remained significantly associated with decreased odds of TV infection. Men from the Sotho ethnic group were eight times more likely to have TV infection (OR 8.6, 95% CI 1.3 to 55.7, p<0.02) than men from the other ethnic groups. CONCLUSION: HIV-positive men with severe ulceration should be screened and treated for TV to minimise HIV transmission to uninfected partners.

Análisis de la demanda de asistencia urológica en un centro de especialidades con una tasa elevada de inmigración / Urology care demand analysis in a specialty centre with a high percentage of immigrant patients

Objetivo: El objetivo del presente estudio es describir los tipos de pacientes y patologías por los que son remitidos a la consulta de urología desde las áreas de atención primaria. El área seleccionada para este trabajo es el barrio del Raval Sur, situado en una zona de la ciudad de Barcelona donde se concentra una gran cantidad de inmigrantes. Ello nos permitirá conocer las necesidades sanitarias de este grupo de población emergente que empieza a cobrar una gran importancia en numerosas ciudades españolas, por lo menos en lo referente a la especialidad de urología. Pacientes y métodos: Se estudió, de forma prospectiva, a todos los pacientes que fueron visitados en la consulta de urología del centro de especialidades del Raval Sur de Barcelona durante el año 2007. La población elegida fue toda la que acudió por primera vez a la consulta de urología en dicho período. Resultados: Se estudió a 247 pacientes, de los cuales 124 eran españoles, 75 indostaníes, 27 americanos, 11 africanos y 10 del resto de países. La edad media ± desviación estándar fue superior en los pacientes españoles, con 57,86 ± 17,85 años, frente a los 37,54 ± 11,07 años en el resto de nacionalidades; en ambos grupos predominó el sexo masculino. Se observaron diferencias entre los distintos grupos de pacientes en la sintomatología prostática, que fue del 32,4% en los españoles, el 7,95% de los indostaníes, el 17,2% de los americanos y el 9,1% de los africanos. Igualmente, se observaron diferencias significativas en el aumento del antígeno prostático específico (PSA), con un 15,2% de los españoles, y ningún caso del resto de grupos. La patología funcional de la esfera sexual sólo fue motivo de consulta en el grupo de los pacientes indostaníes, con un 56,8%. La fimosis-vasectomía fue el motivo de consulta en el 9,8% de los españoles, el 2,7% de los indostaníes y el 25% de los americanos, y no fue requerida por ningún paciente de origen africano. En el caso del dolor lumbar, también se observaron diferencias, con un 0,7% de los españoles, un 1,35% de los indostaníes y un 18,2% de los africanos, y no fue la razón de la consulta en ningún paciente americano. La hematuria macroscópica se presentó en el 5,1% de los españoles, el 3,4% de los americanos, el 18,2% de los africanos y en ningún indostaní. Conclusiones: El motivo de consulta más frecuente en el grupo de pacientes españoles fue la sintomatología debida a la hipertrofia prostática; en el grupo de pacientes americanos, la demanda de intervención por fimosis o la esterilización quirúrgica, y los pacientes indostaníes consultan preferentemente por patología múltiple de la esfera sexual, que alcanza el 56,8% en los pacientes de este grupo. No hay grandes diferencias en cuanto al número de exploraciones complementarias o al número de visitas que se necesitaron para el diagnóstico entre las distintas nacionalidades. Uno de los problemas que más se observa es la falta de asistencia a las citas en algunos pacientes, que es el doble en el grupo de pacientes extranjeros frente a los españoles y superior en el grupo de los africanos e indostaníes (AU)

Objective: The objective of this study is to describe patients referred for urological examination by their primary health care centres according to ethnicity and the disorders in question. The area selected for this study is the Raval Sur neighborhood in the city of Barcelona which has a high immigrant population. This will enable us to understand the health needs of an emerging population which is gaining considerable importance in many Spanish cities, at least where the specialty of urology is concerned. Patients and methods: Prospective study of all patients who visited the urology division at Barcelona’s Raval Sur Specialty Centre during 2007. The chosen population consisted of all patients visiting the urology division for the first time. Results: We studied 247 patients, of whom 124 were Spanish, 75 South Asian, 27 Americans, 11 Africans and 10 from other countries. The average age was higher in Spanish patients: 57.86 ± 17.85 years compared with 37.54 ± 11.07 years for other nationalities. Both groups were predominantly male. Statistical differences for prostate symptoms were observed between patient groups:, these symptoms were present in 32.4% of Spanish patients, 7.95%of South Asians,17.2% of Americans and 9.1% of Africans. Significant differences were also seen in the PSA increase, affecting 15.2% of Spaniards, with no cases in other groups. Sexual functional pathology was only a motive for examination in the South Asian group, with 56.8% of patients. Phymosis and vasectomy surgery were the reasons for consultation in 9.8% of Spaniards, 2.7% of South Asians, 25% of Americans and were not required by any patient of African origin. Lower back pain was also observed in 0.7% of Spaniards, 1.35% of South Asians and 18.2% of Africans, but in none of the American patients. Gross haematuria was present in 5.1% of Spaniards, 3.4% of Americans, 18.2% of Africans and in no South Asian patients. Conclusions: The most common reason for consultation in the Spanish patient group was prostatic hypertrophy, American patients requested phymosis surgery or surgical sterilization, and South Asians visited for different sexual pathologies, which affected 56.8% of patients in this group. There were no significant differences in the number of additional examinations or in the number of visits required for diagnosis between the different ethnic groups. One problem that we noted was the missed appointment rate for some patients, which is twice as high in the immigrant group as among Spanish patients and highest in the African and South Asian groups (AU)

[Urogenital bilharziasis: imaging diagnosis]. / Bilharziose urogénitale: diagnostic par imagerie.

Urogenital bilharziasis is a well-known disease that seldom is encountered in western countries. Therefore, bilharziasis usually only is considered after tuberculosis, the main differential diagnosis, has been excluded. Using this case, we will discuss the value of different imaging techniques (especially that of CT combined with transrectal US) for diagnosing bilharziasis and review specific criteria to more easily distinguish both pathologies.