Learn More
Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is an autosomal recessive inherited form of epilepsy, previously linked to human chromosome 21q22.3. The gene encoding cystatin B was shown to be localized to this region, and levels of messenger RNA encoded by this gene were found to be decreased in cells from affected individuals. Two(More)
Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1; MIM 254800) is an autosomal recessive disorder that occurs with a low frequency in many populations but is more common in Finland and the Mediterranean region. It is characterized by stimulus-sensitive myoclonus and tonic-clonic seizures with onset at age 6-15 years, typical(More)
Loss of function mutations in the gene encoding the cysteine protease inhibitor, cystatin B (CSTB), are responsible for the primary defect in human progressive myoclonus epilepsy (EPM1). CSTB inhibits the cathepsins B, H, L and S by tight reversible binding, but little is known regarding its localization and physiological function in the brain and the(More)
Significant inhibition of proliferative activity in PC3 human prostate cancer cells by estradiol is reported, accompanied by experimental evidence for a specific estrogen receptor (ER). Radioligand-binding assays revealed the presence of high affinity sites of estrogen binding in the nuclear compartment of PC3 cells. In addition, using a reverse(More)
We examined the type I collagen synthesized by cultured dermal fibroblasts from a patient affected with osteogenesis imperfecta (OI) type IV. Both normal and abnormal trimers were produced. The mutant collagen molecules were excessively modified intracellularly, had a melting temperature 4 degrees C lower than the control, were secreted at a reduced rate,(More)
Peripheral blood mononuclear cells from seventeen patients with primary myelodysplastic syndromes (MDS) in advanced stage were enriched for blasts and tested for (1) karyotype, (2) genomic configuration and (3) expression of IL-3, GM-CSF, FMS and EGR-1 genes which are all located on the long arm of chromosome 5. The expression of the M-CSF gene, that has(More)
The subchronic inhalation toxicity of ammonium persulfate was characterized using Sprague-Dawley rats (20/sex/group) at respirable dust concentrations of 0, 5.0, 10.3, and 25 mg/m(3). Whole-body exposures were conducted 6 h/day, 5 days/wk for 13 wk. Gravimetric airborne test material samples were taken daily and particle size samples were taken weekly from(More)
The Authors report the cases of Kawasaki disease (K.D.) observed between July 1988 and october 1991 in OO.RR.'s Pediatric Division of Foggia. The diagnosis was made according to the C.D.C.'s Atlanta diagnostic guidelines. All children were treated (whithin the first 10 days of onset of illness) with intravenous immune-globuline (500 mg/kg/die for 5 days)(More)
Candida albicans is the most prevalent and pathogenic fungal infection of the urinary tract. Although fungal urinary tract infection occur less frequently than bacterial infections, their incidence has increased during the last decades. Parenteral nutrition, corticosteroids, immunosuppressive drugs and prolonged antibiotic therapy are often predisposing(More)
A 75-year-old woman with a history of recurrent pulmonary emboli and atrial fibrillation presented with shortness of breath. Her warfarin had been stopped 4 weeks previously after a minor fall where a head injury and extensive facial "bruising" was noted. A computed tomography pulmonary angiogram subsequently confirmed another pulmonary embolus. On(More)
  • 1