ABSTRACT
Myasthenia gravis (MG) is a rare autoimmune disease of the neuromuscular junction. MG has been shown to be associated with many HLA antigens in different populations. Here we have analysed the frequency of HLA-A, B, DR and DQ in a group of Saudi MG patients and compared their results to a group of healthy controls. MG in Saudi patients is found to be associated with HLA-A*23, B*08, B*18, DRB1*16 and DRB1*13. The strongest association was with HLA-B*08, which was associated with young age at onset and female gender. Our results are in line with other published results from around the world and warrant fine mapping of the area using microsatellite to map the disease gene.
Subject(s)
Gene Frequency/genetics , Genetic Predisposition to Disease , Histocompatibility Antigens Class II/genetics , Histocompatibility Antigens Class I/genetics , Myasthenia Gravis/genetics , Adult , Alleles , Female , Haplotypes , Humans , Male , Myasthenia Gravis/epidemiology , Polymorphism, Genetic , Saudi Arabia/epidemiology , Sex FactorsABSTRACT
We present a consanguineous Pakistani family in which four patients (two males and two females) had a new Troyer-like phenotype. All four patients showed some marfanoid features (span more than height, arachnodactyly, high arched palate), and generalized hyper-reflexia. The two affected males and the younger female also had microcephaly and mental retardation. Features only present in the affected males included short stature, dysarthria, amyotrophy of the distal muscles, fasciculations and tremor. The distal muscle wasting in the two affected brothers reflected the presence of axonal neuropathy demonstrated both electrophysiologically and by nerve biopsy. Although neither of the sisters had any degree of distal muscle wasting, both had reduced M-wave amplitude of the tibial and peroneal nerves, bilaterally. The described phenotype does not fit any of the recognized forms of hereditary spastic paraparesis with distal muscle wasting. The specific axonal neuropathy differentiates it from familial motor neuron disease with mental retardation. The reported phenotype represents a possible new Troyer-like syndrome similar to that described by Neuhäuser (1976), but differs from it by the lack of major dysmorphic features.
Subject(s)
Intellectual Disability/genetics , Marfan Syndrome/genetics , Microcephaly/genetics , Muscular Atrophy/genetics , Spastic Paraplegia, Hereditary/genetics , Tremor/genetics , Adolescent , Adult , Axons/physiology , Biopsy , Child , Consanguinity , Female , Humans , Intellectual Disability/diagnosis , Intellectual Disability/pathology , Intellectual Disability/physiopathology , Male , Marfan Syndrome/diagnosis , Marfan Syndrome/pathology , Marfan Syndrome/physiopathology , Microcephaly/diagnosis , Microcephaly/pathology , Microcephaly/physiopathology , Muscle, Skeletal/innervation , Muscle, Skeletal/pathology , Muscular Atrophy/diagnosis , Muscular Atrophy/pathology , Muscular Atrophy/physiopathology , Pakistan , Spastic Paraplegia, Hereditary/diagnosis , Spastic Paraplegia, Hereditary/pathology , Spastic Paraplegia, Hereditary/physiopathology , Sural Nerve/pathology , Sural Nerve/physiopathology , Synaptic Transmission/genetics , Synaptic Transmission/physiology , Tremor/diagnosis , Tremor/pathology , Tremor/physiopathologyABSTRACT
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ABSTRACT
Detection of anti-class II antibodies by panel response assay (PRA) and flow cross-match techniques carries an important value in terms of graft function. Even low levels of pre-formed alloantibodies to HLA class II antigens represent a risk of rejection. We present here a method for blocking non-specific flow crossmatch reactions using pooled, heat-inactivated rabbit serum. This method shows very low background and minimal non-specific reactions. In addition, it avoids the use pronase enzyme that can non-specifically digest different cell surface proteins.
Subject(s)
B-Lymphocytes/immunology , Blood Grouping and Crossmatching/methods , Flow Cytometry/methods , Histocompatibility Antigens/immunology , Animals , Histocompatibility Testing/methods , Rabbits , Sensitivity and SpecificityABSTRACT
We report a 35-year-old patient with megaloblastic anemia who presented with features of subacute combined degeneration of the cord. Electrophysiological studies showed features of axonal neuropathy. In addition, there was evidence of prominent focal proximal conduction block in several nerves. After treatment with cyanocobalamin the neuropathy improved, and the peripheral nerve conduction block detected earlier disappeared. Reversible nerve conduction block as a feature of vitamin B12 deficiency in man, to our knowledge, has not been reported in literature, so far.
Subject(s)
Axons/physiology , Demyelinating Diseases/etiology , Demyelinating Diseases/physiopathology , Neural Conduction/physiology , Spinal Cord Diseases/etiology , Spinal Cord Diseases/physiopathology , Vitamin B 12 Deficiency/complications , Adult , Humans , Male , Neural Conduction/drug effects , Peripheral Nerves/drug effects , Peripheral Nerves/physiopathology , Vitamin B 12/therapeutic use , Vitamin B 12 Deficiency/drug therapyABSTRACT
Forty one patients with the clinical diagnosis of Behçet's syndrome from two teaching hospitals in Kuwait were studied. There were 34 male and seven female patients. Age at presentation ranged from 14 to 48 years. Neurological manifestations were present in 24 patients. Eleven patients showed evidence of increased intracranial pressure, and 10 of these had radiologically confirmed dural sinus thrombosis. Five patients presented with a meningoencephalitic or meningomyelitic picture, three with a stroke-like picture, and three with primarily brain stem signs. One patient developed trigeminal neuritis, and five patients exhibited (along with other features) variable degrees of psychological manifestations. All patients with neurological involvement were treated with steroids, and some also had courses of other immunosuppressant drugs and colchicine. The disease took a relatively benign course, except those patients with meningoencephalitic and meningomyelitic presentation, one of whom died from the disease. Those treated early had a better prognosis. The incidence of dural sinus thrombosis in this series of patients is unusually high. In most patients, the course of the disease was more favourable than reported in the literature. This may be attributed to early and aggressive treatment.