Discordant repeat size and phenotype in Kennedy syndrome

Previous reports in the literature have described correlation of increasing repeat length with severity of the phenotype, in Kennedy syndrome. We describe male siblings with different repeat lengths, with lack of expression of the phenotype in the sibling with the longer repeat length. The phenotype was identical to motor neurone disease. There is variability of expression in Kennedy syndrome and repeat length even in siblings cannot be taken as a conclusive indicator of severity. CAG repeat length cannot be used to predict the natural history of Kennedy disease. The diagnosis of Kennedy syndrome should be considered in male patients presenting with atypical motor neurone disease.     

A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys)

Four affected siblings in a Costa Rican family presented an aggressive polyneuropathy with widespread involvement of many visceral organs and onset during the third decade of life with rapid loss of muscle mass in the lower limbs and severe dysautonomy. The medical histories include vitreous opacity, cardiac enlargement, dermal and gastrointestinal infiltration, and autonomic dysfunction including circulatory compromise and gastrointestinal disturbances. Histological studies using Congo red stain and immunohistochemical assays with antibodies against the transthyretin (TTR) protein showed widespread deposition of amyloid in extracellular areas, including dermis and gastrointestinal lamina propia, endo- and perineural spaces, and vascular walls. A mutation search in the transthyretin (ttr) gene was performed seeking the cause of this severe form of familial amyloidotic polyneuropathy (FAP). We applied single-stranded conformational polymorphism (SSCP)-analyses followed by sequencing of the four exons of the ttr gene, revealing a point mutation in exon 3, a G to A transition that causes a Glu54Lys codon change. Western blots of plasma proteins incubated with anti-transthyretin antibodies after gel electrophoresis provided separation of wild-type and mutant TTR protein in affected family members.     

Imaging spectrum in disseminated histoplasmosis: Case report and brief review

The clinical manifestations of chronic disseminated histoplasmosis are non-specific and resemble those of other chronic infections and malignancies. We report the radiographic, sonographic and contrast-enhanced CT appearances of histoplasmosis in an adult male with non-insulin dependent diabetes mellitus, who was HIV negative and presented with weight loss and pyrexia. Imaging studies simulated tuberculosis with mediastinal lymphadenopathy, bilateral fibrotic lung lesions, hepatomegaly and bilateral hypoattenuating adrenal enlargement, without clinical or laboratory evidence of hypoadrenalism. Computed tomography-guided fine-needle aspiration biopsy of adrenal glands revealed Histoplasma capsulatum. We report our experience to increase awareness of the imaging spectrum of disseminated histoplasmosis and its similarity to tuberculosis as, with increasing incidence of AIDS, the chances of these infections are likely to increase. Moreover, awareness of this entity is important because it is known that untreated disseminated histoplasmosis is fatal.     

High prevalence of Mycoplasma genitalium among female sex workers in Honduras: implications for the spread of HIV and other sexually transmitted infections

This study describes HIV, sexually transmitted infections (STI) and risk factors associated with Mycoplasma genitalium among female sex workers (FSWs) in four cities in Honduras. In 2006, 795 FSWs from Tegucigalpa, San Pedro Sula, La Ceiba and Comayagua were recruited using respondent-driven sampling (RDS) and tested for HIV prevalence and STI. HIV prevalence ranged from no infections in Comayagua to 5.4% in Tegucigalpa. With the exception of Comayagua, more than 20% of FSWs were infected with M. genitalium. M. genitalium in the aggregated cities was associated with HIV positivity, being aged ≤30 years old, drinking alcohol more than once weekly and always using condoms with regular clients in the past month. In comparison with a 2001 surveillance study we found lower rates of HIV infection. Interventions for HIV control and prevention among FSWs, including promotion of condom use, are needed in Honduras.     

Correlates of HIV infection among young adult short-term injection drug users

OBJECTIVES: To identify risks associated with HIV infection among young adult short-term injection drug users. METHODS: Current injection drug users, between 18 and 29 years of age, were recruited through street outreach to participate in a cross-sectional survey of HIV prevalence by circumstances of drug injection initiation, HIV-related risk behaviors, and a follow-up to estimate HIV incidence. RESULTS: At enrollment, 33 (14.4%) of 229 participants were HIV-seropositive. Significant bivariate associations with HIV at the time injection drug use was initiated included age less than or equal to 18 years, having receptive anal sex with the person who assisted with initiation, and having two or more 'trainers' before being able to self-inject. Injecting risks positively associated with HIV included cocaine or speedball (heroin and cocaine together) injection versus heroin or amphetamine injection, injecting five or more times per day, daily crack smoking, backloading, sharing needles at peak drug use, and not using a new needle for every injection. Sexual practices associated with HIV included reporting > 100 lifetime sex partners, a history of sexual assault, being gay or bisexual, and trading sex for money or drugs after starting to inject. In a multivariate model, trading anal sex for money or drugs after initiating injection drug use [odds ratio (OR), 14.2; 95% confidence interval (CI) 3.2-62.3], cocaine/speedball injection (OR, 10.3; 95% CI, 2.2-47.9), daily crack smoking (OR, 4.2; 95% CI, 1.7-10.5), and having two or more trainers (OR, 2.6; 95% CI, 1.1 - 5.9) were independently associated with HIV. During 12 months of follow-up, four persons seroconverted for HIV (annual incidence: 2.6%; 95% CI, 1.1 -5.9%) CONCLUSIONS: Among short-term injectors, both sexual and injecting practices were important predictors of HIV infection, indicating that a proportion of HIV infections among young injection drug users can be attributed to sexual transmission. The incidence rate for HIV infection suggests that immediate steps should be taken to prevent new infections among young injection drug users.     

Prevalence and incidence of HIV among out-of-treatment injecting drug users, Chicago 1994-1996

OBJECTIVES: To assess HIV prevalence, incidence, and associated risk factors among IDUs in Chicago. METHODS: Seven hundred ninety-four street-recruited IDUs ranging in age from 18 to 50 years, who were not in drug treatment at study enrollment, were interviewed and tested for HIV at baseline and at two follow-ups scheduled 6 and 12 months after baseline. Questionnaires assessed respondents' demographic characteristics, medical and drug treatment histories, drug use, and sexual practices. RESULTS: HIV seroprevalence at baseline was 18%. Logistic regression identified the following determinants of prevalent HIV infection: Puerto Rican ethnicity, homosexual or bisexual self-identification, injecting for 4 or more years, and having smoked crack cocaine in the past 6 months. Follow-up data were collected from 584 (73.6%) participants. Mean duration of follow-up was 16.5 months, indicating that most subjects had follow-up intervals longer than the scheduled 6 and 12 months. Seven HIV seroconversions were observed in 632 person years of risk, yielding an incidence rate of 1.1 per 100 person years of risk. Injection for 3 or less years was positively associated with HIV seroconversion. CONCLUSIONS: The findings provide evidence of a decline in HIV incidence among IDUs, though newer injectors remain at elevated risk for infection.     

Patients with aortic coarctation operated during the first year of life, different surgical techniques and prognostic factors--21 years of experience.

The authors reviewed the clinical files of all patients with coarctation of the aorta (CoAo) operated during the first year of life, in a tertiary center, in order to assess the outcome of different surgical techniques and prognostic factors. MATERIAL AND METHODS: The study included all patients operated from 1 June 1980 to 1 June 2001. They were divided into three groups according to diagnosis: Group I--isolated CoAo (with or without persistent ductus arteriosus (PDA), group II--CoAo plus ventricular septal defect (VSD), and group III--CoAo associated with complex heart defects. The surgical techniques were divided into four groups: Group A--resection of the CoAo with end-to-end anastomosis, group B--Waldhausen technique (subclavian flap), group C--enlargement of the aorta with a patch, and group D--Waldhausen technique plus resection of the CoAo with end-to-end anastomosis. Several parameters were analyzed: sex, age at surgery, other surgical procedures during surgery, reoperation, mortality and outcome (good result, recoarctation). RESULTS: 156 patients were operated during the study period (84.5% of them since 1989). 61.5% were male. Surgery was performed between 3 and 336 days of life. 60.9% patients were included in group I, 32.7% in group II and 6.4% in group III. 25.0% of the patients had group A surgery, 60.2% group B surgery, 7.0% group C surgery and 7.7% group D surgery. The PDA was sectioned in 48.0% of the patients. It was necessary to perform banding of the pulmonary artery, during the first surgery, in 19.9% of cases. 18.6% needed a second operation to close the VSD and for debanding or repair of associated defects. Total mortality was 19.2%. Mortality rate per groups was: Group I--15.8%, group II--21.5%, group III--30.0%, group A--18.0%, group B--19.1%, group C--27.2% and group D--16.7%. In 7.6% of the patients recoarctation was found during follow-up. 40% of the patients are doing well with no medication and minor or no residual defects. 29.4% were lost to follow-up. CONCLUSIONS: Total mortality has decreased over the years with the highest mortality found in Group C and Group III. The best results were achieved in patients with isolated CoAo. Long-term results were generally good with few recoarctations and a good quality of life.     

Purification of Hageman factor (factor XII) on columns of popcorn- agarose

Purification of Hageman factor (HF, factor XII) from human plasma is a tedious procedure and the product is not always in the precursor form. Hojima has described a protein derived from corn kernels that inhibits the enzymatic properties of HF. This inhibitor binds to the precursor form of HF. Rapid purification of HF was achieved by using as the major purification step adsorption of this clotting factor to popcorn inhibitor bound to agarose. The product had a specific activity of 50.0 to 67.1 coagulant units of HF per milligram protein, and the yield was 33% to 40% of the HF content of the starting plasma. The purified protein displayed a single band upon unreduced or reduced sodium dodecyl sulfate polyacrylamide gel electrophoresis and less than 0.1% was in an activated form, as measured in coagulant assays. The technique described is more rapid and reliable than methods described earlier.     

Clinically unrecognized mitral regurgitation is prevalent in lone atrial fibrillation

AIM:To investigate the prevalence of clinically unrecognized mitral regurgitation(MR) in lone atrial fibrillation(AF).METHODS:We studied the prevalence and severity of MR by transesophageal echocardiography(TEE) in patients with "lone" AF as compared to a matched cohort of patients in normal sinus rhythm(NSR) undergoing TEE for other indications besides recognized valvular heart disease.RESULTS:A total of 157 subjects(57 in the AF group and 100 in the NSR group) with structurally normal cardiac valves were included in the study.In the AF group,moderate MR or more was noted in 66% of thepatients,mild MR in 18%,trace or no MR in 16%.In the control group,moderate MR was noted in 6% of patients,mild MR 31%,trace or no MR in 63 % of patients.Moderate MR or greater was significantly more prevalent in the AF group compared to the NSR group(66% vs 6%,P < 0.0001).CONCLUSION:Clinically unrecognized moderate MR is prevalent in "lone" AF-either as an etiologic factor leading to "lone" AF or developing after onset of AF.