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.     

Distal radial fractures Injectable calcium phosphate bone cement versus conventional treatment

AMEDLINEsearchwasconductedtoidentifystudiespublishedfromJanuary1999toMarch2004thatcom-paredinjectablecalciumphosphatebone(NorianSRS)cementwithconventionaltreatmentindistalradialfrac-tures.Fromalistof13articlesidentifiedfromthesearchstrategy,fourarticleswe…     

Circulating levels of inflammatory markers and cancer risk in the health aging and body composition cohort.

BACKGROUND: Chronic inflammation is associated with processes that contribute to the onset or progression of cancer. This study examined the relationships between circulating levels of the inflammatory markers interleukin-6 (IL-6), C-reactive protein (CRP), and tumor necrosis factor-alpha (TNF-alpha) and total as well as site-specific cancer incidence. METHODS: Study subjects (n = 2,438) were older adults (ages 70-79 years) participating in the Health Aging and Body Composition study, who did not report a previous cancer diagnosis (except for nonmelanoma skin cancer) at baseline. Incident cancer events (n = 296) were ascertained during an average follow-up of 5.5 years. Inflammatory markers were measured in stored baseline fasting blood samples. RESULTS: The adjusted hazard ratios (95% confidence intervals) for incident cancer associated with a 1-unit increase on the natural log-scale were 1.13 (0.94-1.37), 1.25 (1.09-1.43), and 1.28 (0.96-1.70) for IL-6, CRP, and TNF-alpha, respectively. Markers were more strongly associated with cancer death: hazard ratios were 1.63 (1.19-2.23) for IL-6, 1.64 (1.20-2.24) for CRP, and 1.82 (1.14-2.92) for TNF-alpha. Although precision was low for site-specific analyses, our results suggest that all three markers were associated with lung cancer, that IL-6 and CRP were associated with colorectal cancer, and that CRP was associated with breast cancer. Prostate cancer was not associated with any of these markers. CONCLUSIONS: These findings suggest that (a) the associations between IL-6, CRP, and TNF-alpha and the risk of cancer may be site specific and (b) increased levels of inflammatory markers are more strongly associated with the risk of cancer death than cancer incidence.     

Image size magnification and power and dilation factors for optical instruments in general

Traditional treatments of spectacle magnification for distant objects consider only stigmatic spectacle lenses and they compare the retinal image size in a refractively fully compensated eye with the image size in the uncompensated eye. Spectacle magnification is expressed as a product of two factors, the power and shape factors of the lens. The power factor depends on the position of the entrance pupil of the eye. For an eye with an astigmatic cornea, however, the position of the entrance pupil is not well defined. Thus, the traditional approach to spectacle magnification does not generalize properly to allow for astigmatism. Within the constraints of linear optics and subject to the restriction that the eye's iris remains the aperture stop, this paper provides a complete, unified and exact treatment for optical instruments in general. It compares retinal image size in a generalized sense (including image shape and orientation) for any instrument in front of an eye with that of the eye alone irrespective of whether the instrument compensates or not. The approach does not make use of the concept of the entrance pupil at all and it allows for astigmatism and for non-alignment of refracting elements in the instrument and in the eye. The concept of spectacle magnification generalizes to the concept of instrument size magnification. Instrument size magnification can be expressed as the product of two matrix factors one of which can be interpreted as a power factor (as back-vertex power) and the other factor for which the name dilation factor is more appropriate in general. The general treatment is then applied to a number of special cases including afocal instruments, spectacle lenses (including obliquely crossing thick bitoric lenses), contact lenses, stigmatic systems and stigmatic eyes. In the case of spectacle lenses, the dilation factor reduces to the usual shape factor.     

Proximity factor in image size magnification for optical instruments in general

A general expression is derived for the proximity factor in near image size magnification for an arbitrary instrument in front of an arbitrary eye. The proximity factor is a 2 x 2 matrix. The instrument and eye may be astigmatic and have decentred elements. The image on the retina may be blurred or not. The analysis is exact within the limitations of linear optics. The general results are specialized for the case of a stigmatic instrument and a stigmatic eye. The results are applied to the case of a thick, possibly bitoric, spectacle lens. The Appendix treats two numerical examples.     

Sub‐retinal neovascular membrane in exudative macular degeneration

Age‐related macular degeneration is a major cause of serious vision loss. The earliest stages of age‐related maculopathy may be defined by the size of the drusen present in the macula and the effects on vision. Further manifestations may include soft drusen, choroidal neovascularisation, macular haemorrhage and cicatricial or disciform degeneration of the macula. This report describes a patient with a macular haemorrhage, a choroidal neovascular membrane and serious loss of vision. In addition, the pathogenesis, diagnosis and treat‐ment options of macular degeneration are reviewed.     

Hodgkin's lymphoma of the thyroid: a clinicopathologic study of five cases and review of the literature.

Hodgkin's lymphoma rarely involves the thyroid gland. We report the clinical and pathologic features of five cases of Hodgkin's lymphoma that presented as thyroid lesions. All five patients were females, aged 29-59 years. Three patients had a history of chronic thyroiditis and hypothyroidism and two were euthyroid. One patient had a remote history of Hodgkin's lymphoma. Imaging studies showed a 'cold' nodule (three cases) or a diffusely enlarged thyroid gland, resembling goiter or fibrosclerosing thyroiditis (two cases). Thyroid fine-needle aspiration was performed before thyroidectomy in all cases; three of these cases contained some atypical cells, raising the possibility of Hodgkin's lymphoma. Histologically, all cases were classical Hodgkin's lymphoma, nodular sclerosis subtype. The four patients with primary thyroid lymphoma had Stage IIE disease. All patients were treated with surgical excision and chemotherapy, with or without radiation therapy, and were alive after 2 months to 7 years of follow-up. A review of the English literature between 1962 and 2005 revealed 16 cases of thyroid Hodgkin's lymphoma, with a female preponderance and generally favorable outcome similar to the cases in our series. Hodgkin's lymphoma of the thyroid is rare and can mimic a primary thyroid epithelial tumor or thyroiditis clinically. Histologic diagnosis may be difficult due to marked fibrosis. Hodgkin's lymphoma should be considered in the differential diagnosis of thyroid neoplasms.