A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

We have identified a novel splice site mutation (IVS6-1G?>?A) in the disc-large homolog 3 (DLG3) gene, encoding the synapse-associated protein 102 (SAP102) in one out of 300 families with moderate to severe non-syndromic mental retardation. SAP102 is a member of the neuronal membrane-associated guanylate kinase protein subfamily comprising SAP97, postsynaptic density (PSD)95, and PSD93, which interacts with methyl-d-aspartate receptor and associated protein complexes at the postsynaptic density of excitatory synapses. DLG3 is the first mental retardation gene directly linked to glutamate receptor signalling and trafficking, increasingly recognised as a central mechanism in the regulation of synaptic formation and plasticity in brain and cognitive development.     

Fibrolipoma of the median nerve

Neural fibrolipoma or fibrolipomatous hamartoma is an uncommon benign tumor that usually arises in the median nerve. Fibrofatty tissue proliferates around the nerve and infiltrates the epineurium and perineurium. We report a case of fibrolipomatous hamartoma of the left median nerve in an 18-year-old woman. Our objective was to describe the pathognomonic magnetic resonance imaging features, whose presence obviates the need for a diagnostic biopsy.     

Vulnerabilities and Caregiving in an Ethnically Diverse HIV-Infected Population

The current study aimed to identify the primary informal caregivers of a group of urban HIV+ adults (n = 250) and to determine relationships between demographic, medical, and substance use characteristics and caregivers types. Reported caregiver types included 36.8% familial, 22.4% significant other, and 22.8% institutional or other caregiver relationships. The remaining 18% of the sample reported having no individual that rendered informal care. Factors associated with the absence of an informal caregiver included African American race and low education. Hispanic participants reported the highest frequency of family caregivers while participants with a history of substance disorder were less likely to identify a significant other as a caregiver. This study demonstrates the evolving nature of informal caregiving in HIV, race- and education-related disparities in the absence of primary caregivers, and the importance of sociocultural and demographic factors in the study of HIV caregiving. Research supported by R24MH59724 from the National Institutes of Health.     

A peptide selected by biopanning identifies the integrin alphavbeta6 as a prognostic biomarker for nonsmall cell lung cancer

The development of new modes of diagnosis and targeted therapy for lung cancer is dependent on the identification of unique cell surface features on cancer cells and isolation of reagents that bind with high affinity and specificity to these biomarkers. We recently isolated a 20-mer peptide which binds to the lung adenocarcinoma cell line, H2009, from a phage-displayed peptide library. We show here that the cellular receptor for this peptide, TP H2009.1, is the uniquely expressed integrin, alphavbeta6, and the peptide binding to lung cancer cell lines correlates to integrin expression. The peptide is able to mediate cell-specific uptake of a fluorescent nanoparticle via this receptor. Expression of alphavbeta6 was assessed on 311 human lung cancer samples. The expression of this integrin is widespread in early-stage nonsmall cell lung carcinoma (NSCLC). Log-rank test and Cox regression analyses show that expression of this integrin is significantly associated with poor patient outcome. Preferential expression is observed in the tumors compared with the surrounding normal lung tissue. Our data indicate that alphavbeta6 is a prognostic biomarker for NSCLC and may serve as a receptor for targeted therapies. Thus, cell-specific peptides isolated from phage biopanning can be used for the discovery of cell surface biomarkers, emphasizing the utility of peptide libraries to probe the surface of a cell.     

Association of khellin and 308-nm excimer lamp in the treatment of severe alopecia areata in a child

Alopecia areata (AA) is an autoimmune inflammatory disorder of hair, characterized by non-scarring hair loss. A 308-nm excimer lamp (EL) has been reported as one effective modality in the treatment of AA. Khellin is a furanochromone photosensitizer whose chemical structure is close to psoralens and has previously proven its efficacy in vitiligo in association with ultraviolet A. We evaluated the efficacy and safety of a combination of topical khellin and 308-nm EL in the treatment of a refractory ophiasic AA, of 1-year evolution, in a 5-year-old boy. Treatment consisted in topical application of khellin 45 mn before irradiation with EL (starting dose 50 mJ/cm²) twice a week for 3 months. The result was a complete regrowth of hair with no recurrence 1 year later. Further studies should be carried out to confirm this promising result and to propose khellin–excimer as a new alternative treatment for resistant cases of AA in children.