Quality of life and Kaposi sarcoma: using preference techniques to value the health gains from treatment

The goal of this work was to investigate preference techniques to value potential health gains from treatments of Kaposi sarcoma (KS). The study was designed to take the form of face-to-face interviews with a sample of men with a history of HIV/AIDS ( n=15) or HIV/AIDS and KS ( n=17). The main outcome measure was quality of life (QoL) associated with various KS disease states expressed on a scale from 0 (death) to 1 (perfect health), obtained though time trade-off (TTO) and rating scale techniques. For cutaneous lesions only, the mean TTO preference score value was 0.27. In other words, the men were willing to trade a life expectancy of 5 years for a shorter period (1.4 years) in perfect health. More severe KS health states were rated lower (0.07-0.09). The mean rating scale value for cutaneous lesions only was 0.11 and ranged from -0.10 to -0.04 for the more severe conditions; these values were systematically lower than the TTO ( P=0.014). A large overall potential gain in QoL from treatment (partial response minus stable disease) was found for each condition to be reflected in both the TTO (from 0.31 to 0.55) and the rating scale (from 0.38 to 0.44). Respondents associate KS health states with extremely poor QoL and indicate that large gains are possible through modest treatment effects. While TTO returns higher values than the rating scale, potential gains from treatments were similar. The techniques appear to be suitable for application to QoL and economic evaluation of treatments of KS.     

Resolution of skin fibrosis and joint contractures in aggressive diffuse systemic sclerosis using autologous stem cell transplantation

The use of haematopoietic stem cell transplantation (HSCT) has now expanded beyond the domain of haematological diseases. Increasingly, the benefits of intense immunosuppression in the management of severe autoimmune diseases are being recognized. In diffuse systemic sclerosis (SSc), there has been increasing evidence of the efficacy of HSCT in improving morbidity and mortality. We present the first Australian patient to undergo autologous HSCT for SSc and review the current literature in the use of HSCT in SSc. Remarkably, the patient had complete resolution of skin disease (modified Rodnan skin score 27/51–0/51), tenosynovitis, synovitis and myositis.     

Joint attention and symbolic play in young children with autism: a randomized controlled intervention study

Joint attention and symbolic play in young children with autism: a randomized controlled intervention study . Kasari C. , Freeman S. & Paparella T. ( 2006 ) Journal of Child Psychology and Psychiatry (formerly Journal of Child Psychology and Psychiatry and Allied Disciplines) , 47 , 611 – 620 .     

Keratoconus in monozygotic twins in New Zealand

We report on a case of keratoconus in identical twins who were brought up in Christchurch, New Zealand. Videokeratoscopy using an EyeSys^a (EyeSys Laboratories, Houston, Texas, USA) revealed not only marked differences in severity of keratoconus between the sisters, but also non-equivalent cone types. Both twin sisters reported an exacerbation of their keratoconus during pregnancy and during breast feeding. Various factors affecting the development and progression of keratoconus are discussed. (Clin Exp Optom 1995; 78: 4: 125–129)     

Fluorescence in situ hybridization analysis of chromosome 12p in paraffin-embedded tissue is useful for establishing germ cell origin of metastatic tumors.

The over-representation of chromosome 12p sequences is crucial for the development of invasive testicular germ cell tumors. Testicular cancer patients may have metastatic tumors of diverse histologic types, including adenocarcinoma, undifferentiated carcinoma, sarcoma, or other malignancies that lack features of germ cell tumors. We sought to investigate the possible germ cell origin of such tumors using interphase fluorescence in situ hybridization. In all, 10 metastatic malignant somatic-type tumors from patients with histories of testicular cancer, as well as one malignant somatic-type tumor from a patient with primary mediastinal germ cell tumor were studied and included: adenocarcinoma (five cases), poorly differentiated carcinoma (one), sarcoma (four), and neuroendocrine carcinoma (one). The tumors were analyzed using fluorescence in situ hybridization using 12p spectrum green and 12 centromeric spectrum orange probes in paraffin sections. The patients ranged in age from 27 to 55 years (mean, 43). Colon and lung cancers from patients without germ cell tumors were used as controls. Adequate signals were observed in all tumors. Gain of chromosome 12p was seen in six tumors. None of the control tumors showed 12p amplification. Fluorescence in situ hybridization for 12p amplification in routinely processed surgical specimens is a useful adjuvant diagnostic tool in confirming the germ cell origin of metastatic tumors having the histologic appearance of somatic-type neoplasms.     

Neurological complications in AIDS patients: the 1-year retrospective study in Chiang Mai University, Thailand

The first case of AIDS patient in the northern part of Thailand was reported in 1987 (Vithayasai et al., 1996), marking the outbreak of an epidemic. In our experience, the neurological involvement in AIDS patients seems to have changed in pattern and incidence during the last 8 years. We have conducted a retrospective study to review the incidence of AIDS-defining diseases in the patients admitted to Chiang Mai University Hospital, Thailand during the period September 2001 to August 2002. There were 155 AIDS patients admitted during this specified period, 118 of which were male and 37 female, aged between 16 and 60. The incidence of neurological complications was 50.3 per 100 person-years, in which central nervous system involvement account for 46.5 per 100 person-years and peripheral nervous system involvement account for 3.8 per 100 person-years. The incidence of cryptococcal meningitis appeared to be decreasing since 1994 whereas the incidence of cerebral toxoplasmosis appeared to be increasing. The incidence of cryptococcal meningitis, cerebral toxoplasmosis and cytomegalovirus (CMV) infection was 18.0, 14.8 and 7.0 per 100 person-years, respectively. Other common non-neurological AIDS-defining illnesses in northern Thailand include pulmonary tuberculosis (15.4 per 100 person-years), extra-pulmonary tuberculosis (9.6 per 100 person-years), and disseminated penicilliosis (12.2 per 100 person-years). In this way and summarizing, in northern Thailand, the three most common neurological involvements before the era of highly active anti-retroviral therapy are cryptococcal meningitis, cerebral toxoplasmosis and CMV infection. The incidence of cryptococcal meningitis appeared to be decreasing whereas the incidence of cerebral toxoplasmosis seemed to be increasing.     

Crystal deposits in the human intervertebral disc: implications for disc degeneration.

BACKGROUND CONTEXT: Although crystal deposition in cartilage and synovial fluid has received much attention, crystal formation and the role that crystal deposits play are virtually unexplored in the intervertebral disc. In articular cartilage matrix, crystal deposits are associated with altered extracellular matrix (ECM) and cell phenotypic features, but crystal deposition in the human intervertebral disc has received much less attention. PURPOSE: To determine the incidence of crystal deposits in the annulus and to evaluate associated disc cell and ECM features. STUDY DESIGN/SETTING: Human intervertebral disc annulus tissue was obtained in a prospective study of the presence of crystals in the disc ECM. Human Subjects Institutional Review Board approved experimental studies. PATIENT SAMPLE: Two hundred eight sequential disc specimens were submitted from surgical disc procedures performed on individuals with herniated discs, degenerative disc disease, or recurrent disc herniation. During this same time period, three disc specimens were received from nonsurgical donors and added to the study population. OUTCOME MEASURES: Histologic features with special attention to crystal deposition. METHODS: Specimens were processed undecalcified and examined for the histologic presence of crystal deposits and ECM features around the crystals. RESULTS: The proportion of specimens containing crystals was determined to be 14.7%; crystals displayed varying sizes, morphology, and polarized light birefringence features. Pyrophosphate crystals were most common, but oxalate-like crystals were also present. ECM in crystal regions showed previously recognized alterations. CONCLUSIONS: This study shows that the incidence of crystal deposits in discs is approximately 15% and is thus a relatively common occurrence. These data are important because masses of crystals not only disrupt disc ECM but may also accelerate preexisting degenerative changes via an elevation in matrix metalloproteinases (as previously recognized in cartilage). Because failure of the structural integrity of the disc can result in annular tears and subsequent disc herniation, the mechanisms of crystal formation and the relationship between crystals and disc degeneration merit further investigations.     

Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.

Parkin mutations account for the majority of familial and sporadic early onset Parkinson's disease (EOPD) cases with a known genetic association. More than 100 mutations have been described in the Parkin gene that includes homozygous, compound heterozygous, and single heterozygous mutations. We have designed a Parkin mutation genotyping array (gene chip) that includes published Parkin sequence variants and allows their simultaneous detection. The chip was validated by screening 85 PD cases and 47 controls previously tested for Parkin mutations. Similar genotyping microarrays have been developed for other genetically heterogeneous diseases including age-related macular degeneration. Here, we show the utility of a genotyping array for Parkinson's disease by analysis of 60 subjects from the Genetic Epidemiology of Parkinson Disease (GEPD) study that includes 15 early-onset PD case probands and 45 relatives.