ABSTRACT
The coexistence of multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) in the same family is a rare event. We report a familial case originating from Sardinia of two siblings: one with NMOSD and one with MS. Human leukocyte antigen (HLA) typing showed that the two affected siblings were HLA-identical, sharing risk-increasing alleles, while a younger unaffected sister was haploidentical to her siblings but she also carried protective alleles. Our findings confirm the role of HLA in raising the risk to develop CNS inflammatory diseases and provide further knowledge on the relationship between NMOSD and MS.
Subject(s)
Family Health , Multiple Sclerosis , Neuromyelitis Optica , Adult , Brain/diagnostic imaging , Electroencephalography , Evoked Potentials, Visual/genetics , Female , Histocompatibility Antigens Class I/genetics , Humans , Italy/epidemiology , Multiple Sclerosis/diagnostic imaging , Multiple Sclerosis/genetics , Multiple Sclerosis/physiopathology , Mutation/genetics , Neuromyelitis Optica/diagnostic imaging , Neuromyelitis Optica/genetics , Neuromyelitis Optica/physiopathology , Spinal Cord/diagnostic imagingABSTRACT
BACKGROUND: No reliable indicators of the transition to the progressive course in multiple sclerosis (MS) have been identified so far. The main clinical feature of the progressive phase of MS is usually impairment of walking. Magnetic resonance imaging and optical coherence tomography have emerged recently as promising tools to assess increasing neurodegeneration and axonal loss in disease progression in MS. RESULTS: We report a case of progressive visual impairment as the dominant symptom in the transition to secondary progressive MS. CONCLUSIONS: Impairment of vision, together with walking and cognition, should be considered to better define the transition from relapsing/remitting to secondary-progressive MS.
Subject(s)
Multiple Sclerosis, Chronic Progressive/diagnosis , Multiple Sclerosis, Chronic Progressive/physiopathology , Vision Disorders/diagnosis , Vision Disorders/physiopathology , Brain/diagnostic imaging , Disease Progression , Female , Humans , Multiple Sclerosis, Chronic Progressive/therapy , Vision Disorders/etiology , Young AdultABSTRACT
The use of HPLC (High Performance Liquid Chromatography) in the quantitative determination of alfadione, which escapes liver metabolization after portal injection, is proposed. The early results are presented and possible products of metabolism are highlighted.
Subject(s)
Alfaxalone Alfadolone Mixture/blood , Alfaxalone Alfadolone Mixture/administration & dosage , Animals , Chromatography, High Pressure Liquid , Injections, Intravenous , Male , Portal Vein , RabbitsABSTRACT
Using a simple, highly sensitive technique, the rate of pollution due to enflurane in an operating theatre with two beds and two respirators but without an air exchange system has been measured. After much debate and after seven serious cases of viral hepatitis among medical staff, the facility was closed because it was judged to be unusable and because the surgical department using it was moved elsewhere.
