Cerebrospinal fluid markers in dementia with lewy bodies compared with Alzheimer disease

BACKGROUND: Most patients with dementia with Lewy bodies (DLB) exhibit diffuse plaque-only pathology with rare neocortical neurofibrillary tangles (NFTs), as opposed to the widespread cortical neurofibrillary-tau involvement in Alzheimer disease (AD). Another pathological difference is the astrocytic and microglial inflammatory responses, including release of interleukins (ILs), around the neuritic plaques and NFTs in AD brains that are absent or much lower in DLB. We analyzed cerebrospinal fluid (CSF) markers that reflect the pathological differences between AD and DLB. OBJECTIVE: To determine CSF concentrations of tau, beta-amyloid, IL-1beta, and IL-6 as potential diagnostic clues to distinguish between AD and DLB. METHODS: We measured total tau, beta-amyloid1-42, IL-1beta, and IL-6 levels in CSF samples of 33 patients with probable AD without parkinsonism, 25 patients with all the core features of DLB, and 46 age-matched controls. RESULTS: Patients with AD had significantly higher levels of tau protein than patients with DLB and controls (P<.001). The most efficient cutoff value provided 76% specificity to distinguish AD and DLB cases. Patients with AD and DLB had lower, but not significantly so, beta-amyloid levels than controls. The combination of tau and beta-amyloid levels provided the best sensitivity (84%) and specificity (79%) to differentiate AD vs controls but was worse than tau values alone in discriminating between AD and DLB. Beta-amyloid levels had the best correlation with disease progression in both AD and DLB (P =.01). There were no significant differences in IL-1beta levels among patients with AD, patients with DLB, and controls. Patients with AD and DLB showed slightly, but not significantly, higher IL-6 levels than controls. CONCLUSIONS: The tau levels in CSF may contribute to the clinical distinction between AD and DLB. Beta-amyloid CSF levels are similar in both dementia disorders and reflect disease progression better than tau levels. Interleukin CSF concentrations do not distinguish between AD and DLB.     

Serology: recent developments, strengths, limitations and prospects: a state of the art overview

Specific antibodies can be used as a surrogate marker for bacterial load in leprosy. Tests to detect antibodies can be used for (i) the classification of patients for treatment purposes [most multibacillary (MB) patients are seropositive, most paucibacillary (PB) patients are not], (ii) the prediction of an increased risk of relapse and (iii) the identification of contacts having an increased risk of developing leprosy. With the advent of fast, robust and easy to perform serological tests such as lateral flow, agglutination and card tests, the application of serology in the field for these purposes becomes a feasible prospect. We hereby present an overview of the current knowledge and new developments in this area and discuss the strengths, limitations and possible applications of antibody detection in leprosy research and control.     

Current issues in the management of advanced squamous cell carcinoma of the penis

Effective treatment of penile carcinoma incorporates three modalities: surgery, radiation and chemotherapy. Surgery alone may offer a high cure rate in early stages of the disease. In certain patients radiation therapy may be utilized to eradicate the tumor and allow organ preservation. For patients with locally advanced disease, multi-modality approaches incorporating adjuvant or neoadjuvant chemotherapy and radiation therapy need to be studied. This approach may confer a survival benefit to a group that would otherwise have a poor prognosis. Finally, in the setting of metastatic disease, less toxic and more effective combination chemotherapy are sought. Novel targeted therapies that have been successful in squamous cell carcinoma at other sites must also be studied in this disease. We believe that multi-institutional trials should be designed in order to obtain prospective benchmark data from which to make valid comparisons of outcome.     

Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome

Cenani-Lenz syndrome (CLS; MIM 212780) is a rare autosomal recessive syndactyly/synostosis syndrome. No facial dysmorphism was previously noted. We studied two families; in the first an affected female had a previously affected brother and her father was said to have been similarly affected. Extensive inbreeding in this family suggests quasidominant inheritance. In the second family there was a history of a similarly affected sib who, in addition, had genital anomalies and cleft palate. The parents were first cousins. Both probands had similar mild facial dysmorphism; a high broad, prominent forehead, hypertelorism, a depressed nasal bridge, downslanting palpebral fissures, a short nose, a short prominent philtrum and malar hypoplasia. The present report suggests mild facial dysmorphism and quasidominant inheritance in one family with Cenani-Lenz syndrome.     

Absence of an aortic valve cusp,a cause of severe aortic regurgitation in infancy

Summary Congenital aortic regurgitation is an extremely rare cardiac lesion. This is a case report of an infant with a severe degree of valve regurgitation due to absence of the noncoronary aortic cusp. We show the echocardiographic, angiographic, and surgical aspects of the case, emphasizing the importance of a precise anatomical diagnosis and the problems of early valve replacement.