Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis A case report with eight years follow-up

Nevoid basal cell carcinoma (NBCCS) or Gorlin-Goltz syndrome (GS) is a multidisciplinary problem, the early diagnosis of which allows secondary prophylaxis that follows an appropriate regimen to delay progression of the syndrome. The aim of this study was to present a case of delayed diagnosis of GS in a young patient who received multidisciplinary treatment 5 years after onset. The patient presented for evaluation with painless swelling of the left maxilla. Histological examination confirmed the diagnosis of a keratocyst odontogenic tumor (KOT) that was enucleated. On presentation, the patient’s symptoms and clinical signs were not related to complications of GS, and the possibility of GS was initially rejected, as he did not have a family history of the syndrome. Four years after the first surgery to remove the lesion, the patient came to our clinic with a brown, pigmented lesion. Computed tomography revealed ectopic lamellar calcification of the falx cerebri, which was the conclusive factor for the diagnosis of GS. It is important that clinicians recognize the clinical signs of GS, which mainly manifests itself as multiple basal cell carcinomas in the skin.

Late diagnosis and vulnerabilities of the elderly living with HIV/AIDS

Objective: To identify vulnerabilities of elderly people with HIV/AIDS and the trajectory that they follow until reaching the diagnosis of the disease. Method: Qualitative research conducted in specialized clinics in the state of Sao Paulo, from January to June 2011. Semi-structured interviews were conducted with 11 elderly people who were found to be infected with the virus at the age of 60 years or older. The interviews were analyzed using content analysis. Results: In this process four categories emerged, then analyzed with reference to the theoretical framework of vulnerability. Conclusion: Late diagnosis of HIV infection or AIDS among the elderly happens in the secondary or tertiary service. Issues related to sexual life of the elderly are only questioned by health professionals after the diagnosis, also the time that condom use becomes absolute. It is believed that the investigation of the vulnerability of the elderly to HIV/AIDS allows for carrying out appropriate interventions for this population.

Cicatrizes renais em crianças com refluxo vesicoureteral primário

OBJETIVO: verificar a incidência de cicatrizes renais em crianças com refluxo vesicoureteral primário, comparando com sexo, idade no diagnóstico, infecção febril, grau do refluxo e tipo de bactéria. MÉTODOS: estudo retrospectivo de 58 crianças, com idade entre dois meses a 11 anos, apresentando refluxo vesicoureteral primário, detectado pela uretrocistografia miccional, após episódio documentado de infecção urinária. Diagnóstico de cicatriz renal foi obtido pela cintilografia com DMSA cinco meses, no mínimo, após o tratamento da infecção urinária; em 40 crianças, o exame foi repetido após período de seis meses a seis anos. RESULTADOS: 45 crianças (77,6%) eram meninas e 13 (22,4%) eram meninos, 51,7% com idade menor ou igual a 2 anos. A incidência de cicatriz renal foi de 55,2%. Houve maior proporção significativa de cicatrizes renais no sexo feminino, na presença do sintoma febre e no refluxo dilatado (III, IV e V). Presença de febre e sexo feminino foram fatores de risco significativos na ocorrência de cicatriz renal (febre - OR= 6,19, e sexo feminino - OR= 4,12). Houve tendência da presença de cicatriz renal em maiores de 2 anos. O intervalo entre início dos sintomas e a primeira consulta foi maior nas crianças com cicatrizes renais. Novas cicatrizes renais foram observadas em 12,5%. CONCLUSÃO: a presença de febre e sexo feminino foram fatores de risco para presença de cicatrizes renais, principalmente no refluxo vesicoureteral dilatado. A alta incidência de cicatrizes renais neste estudo pode estar relacionada ao retardo do diagnóstico do refluxo vesicoureteral.

Tempo para acesso ao tratamento do câncer de mama no Distrito Federal, Brasil Central

PURPOSE: To analyze the time between the first symptom and treatment in patients treated for breast cancer in public hospitals in the Federal District. METHODS: This was a cross-sectional analysis. We interviewed 250 women diagnosed with breast cancer treated in six hospitals of the State Department of Health of the Federal District from November 2009 to January 2011. The time intervals studied were the time between the detection of the symptoms and treatment subdivided into intervals until and after the first medical appointment. The variables were: age, menopausal status, color, educational level, average monthly household income, origin, reason for the initial consultation, staging, tumor size, laterality, metastasis to axillary lymph nodes, neoadjuvant chemotherapy, and type of surgery. The Mann-Whtney test was used to assess the association of these variables with the time intervals until treatment. RESULTS: The mean age was 52 years, with a predominance of white women (57.6%), from the Federal District (62.4%), with a family income of up to 2 minimum wages (78%), and up to four years of schooling (52.4%). The staging of the disease ranged from II to IV in 78.8% of the women. The time between the first symptom and treatment was 229 days (median). After detection of the first symptom, 52.9% of the women attended a consultation within 30 days and 88.8% took more than 90 days to start treatment. Women with elementary school education had a greater delay to the start of treatment (p=0.049). CONCLUSIONS: There was a significant delay to start treatment of women with breast cancer in public hospitals of the Federal District, suggesting that efforts should be made to reduce the time needed to schedule medical appointments and to diagnose and treat these patients.

Development of a Loop-Mediated Isothermal Amplification Method for Detection of Histoplasma capsulatum DNA in Clinical Samples

Improved methods for the detection of Histoplasma capsulatum are needed in regions with limited resources in which the organism is endemic, where delayed diagnosis of progressive disseminated histoplasmosis (PDH) results in high mortality rates. We have investigated the use of a loop-mediated isothermal amplification (LAMP) assay to facilitate rapid inexpensive molecular diagnosis of this disease. Primers for LAMP were designed to amplify the Hcp100 locus of H. capsulatum. The sensitivity and limit of detection were evaluated using DNA extracted from 91 clinical isolates of known geographic subspecies, while the assay specificity was determined using DNA extracted from 50 other fungi and Mycobacterium tuberculosis. Urine specimens (n = 6) collected from HIV-positive individuals with culture- and antigen-proven histoplasmosis were evaluated using the LAMP assay. Specimens from healthy persons (n = 10) without evidence of histoplasmosis were used as assay controls. The Hcp100 LAMP assay was 100% sensitive and specific when tested with DNA extracted from culture isolates. The median limit of detection was <= 6 genomes (range, 1 to 300 genomes) for all except one geographic subspecies. The LAMP assay detected Hcp100 in 67% of antigen-positive urine specimens (4/6 specimens), and results were negative for Hcp100 in all healthy control urine specimens. We have shown that the Hcp100 LAMP assay is a rapid affordable assay that can be used to expedite culture confirmation of H. capsulatum in regions in which PDH is endemic. Further, our results indicate proof of the concept that the assay can be used to detect Histoplasma DNA in urine. Further evaluation of this assay using body fluid samples from a larger patient population is warranted.

Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder due to an inborn error of cholesterol metabolism, characterized by congenital malformations, dysmorphism of multiple organs, mental retardation and delayed neuropsychomotor development resulting from cholesterol biosynthesis deficiency. A defect in 3ß-hydroxysteroid-delta7-reductase (delta7-sterol-reductase), responsible for the conversion of 7-dehydrocholesterol (7-DHC) to cholesterol, causes an increase in 7-DHC and frequently reduces plasma cholesterol levels. The clinical diagnosis of SLOS cannot always be conclusive because of the remarkable variability of clinical expression of the disorder. Thus, confirmation by the measurement of plasma 7-DHC levels is needed. In the present study, we used a simple, fast, and selective method based on ultraviolet spectrophotometry to measure 7-DHC in order to diagnose SLOS. 7-DHC was extracted serially from 200 µl plasma with ethanol and n-hexane and the absorbance at 234 and 282 nm was determined. The method was applied to negative control plasma samples from 23 normal individuals and from 6 cases of suspected SLOS. The method was adequate and reliable and 2 SLOS cases were diagnosed.