Photodynamic therapy in the management of a patient with Gorlin syndrome (naevoid basal cell carcinoma syndrome)

Gorlin syndrome (naevoid basal cell carcinoma syndrome) is a genetically linked disorder characterized by the development of multiple basal cell carcinomas (BCCs) throughout life. Cumulative surgery, cryotherapy and other conventional interventions can result in significant disfigurement by middle age. Radiotherapy is contra-indicated because the mutated gene underlying the syndrome, ‘PTCH’, increases sensitivity to ionising radiation, so there is significant likelihood of inducing further tumours in and around the irradiated area. Photodynamic therapy offers a non-invasive treatment option for patients with this condition, with the added advantage of causing minimal scarring.     

Positron emission tomography using 18F-fluorodeoxyglucose in the management of nonsmall cell lung cancers in 2006]

Technological progress and numerous published studies allow to estimate the best place of the 18F-fluorodeoxyglucose positron emission tomography, a real functional metabolic imagery, in the clinical and therapeutic strategy of non small cell lung cancers.     

Type 2 diabetes: assessment of endothelial lesion and fibrinolytic system markers.

This study aimed to investigate whether endothelial cells are damaged and to evaluate fibrinolytic system function in patients with type 2 diabetes. For this proposal, plasma levels of von Willebrand factor (an endothelial marker of injury), homocysteine (an inductor of endothelial injury), D-dimer (a marker of coagulation cascade activation) and plasminogen activator inhibitor-1 (a fibrinolysis marker) were measured in individuals with both type 2 diabetes and high blood pressure, with type 2 diabetes, with high blood pressure and in healthy control individuals. No significant differences among groups were observed for von Willebrand factor and homocysteine plasma levels. The type 2 diabetes and high blood pressure group presented a significant difference to the other groups for D-dimer and also presented high values for plasminogen activator inhibitor-1. The high blood pressure group and type 2 diabetes group presented separately higher values of plasminogen activator inhibitor-1 compared with the control group. High levels of D-dimer and plasminogen activator inhibitor-1 in patients with type 2 diabetes and high blood pressure with normoalbuminuria therefore indicate a state of hypercoagulability and hypofibrinolysis, despite no evident microvascular injury supported by normal levels of von Willebrand factor and homocysteine.     

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.     

WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature

Split‐hand/foot malformation (SHFM) is a genetically heterogeneous congenital limb malformation typically limited to a defect of the central rays of the autopod, presenting as a median cleft of hands and feet. It can be associated with long bone deficiency or included in more complex syndromes. Among the numerous genetic causes, WNT10B homozygous variants have been recently identified in consanguineous families, but remain still rarely described (SHFM6; MIM225300). We report on three novel SHFM families harboring WNT10B variants and review the literature, allowing us to highlight some clinical findings. The feet are more severely affected than the hands and there is a frequent asymmetry without obvious side‐bias. Syndactyly of third–fourth fingers was a frequent finding (62%). Polydactyly, which was classically described in SHFM6, was only present in 27% of patients. No genotype–phenotype correlation is delineated but heterozygous individuals might have mild features of SHFM, suggesting a dose‐effect of the WNT10B loss‐of‐function.     

Human gammadelta T cells express a higher TCR/CD3 complex density than alphabeta T cells

The aim of our study was to compare CD3 expression on gammadelta T cells and alphabeta T cells in human patients. The antigen density of TCR and CD3 on both subsets was assessed by a quantitative method in eight patients. In parallel, we developed and validated a reliable direct tricolor staining protocol that we tested on samples from hospitalized and healthy individuals (n = 60). Our results demonstrate that human gammadelta T cells constitutively express approximately twofold more of the TCR/CD3 complex than alphabeta T cells. We suggest that this enhanced expression of the TCR/CD3 complex could contribute to the higher reactivity of gammadelta T cells compared to alphabeta T cells. These clinical laboratory results confirm the fundamental data described elsewhere. gammadelta T cells deserve further clinical investigations to understand their precise role in human immunity.