The allelic disorders rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and CAPOS/CAOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural deafness) are caused by ATP1A3 mutations. Intermediate RDP-AHC phenotypes are emerging. Positional mutations 274, 583, 867, and 923 lead to both RDP and AHC, suggesting different pathomechanis...

this guide to the identification of iranian freshwater snails has been prepared with aim of helping individuals involved in field work, but who have had no specialized training in taxonomy to differentiate snail specimens which they collect to certain groups by means of simple identification key. the guide pays special attention to the principal snail groups which transmit human schistosomiasis...

OBJECTIVE The aim of this study was to estimate the prevalence of the metabolic syndrome in Finnish type 1 diabetic patients and to assess whether it is associated with diabetic nephropathy or poor glycemic control. RESEARCH DESIGN AND METHODS In all, 2,415 type 1 diabetic patients (51% men, mean age 37 years, duration of diabetes 22 years) participating in the nationwide, multicenter Finnish...

background and aims: infectious bursal disease (ibd) is an acute contagious viral disease of birds worldwide. the causative virus induces a persistent immune suppression following destroy b lymphocytes precursors in bursal lymphoid follicles. vaccination is the main strategy for prevention of the disease in commercial poultry industry. materials and methods: to produce a live vaccine against th...

Introduction Cryopyrin-associated periodic syndromes (CAPS) are a group of dominantly inherited disorders caused by gainof-function NLRP3 mutations. These disorders represent different degrees of severity of a same disease being familial cold autoinflammatory syndrome the milder form, Muckle-Wells syndrome an intermediate form and chronic infantile neurologic cutaneous and articular syndrome th...

Airway and cystic lung diseases can be observed in patients with Sjögren's syndrome. We report a case of such a patient suffering from respiratory failure due to recurrent episodes of right pneumothorax, requiring invasive mechanical ventilation. Despite thoracic drainage and adequate pneumothorax management, the patient could not be weaned from the ventilator. Fiberoptic bronchoscopy revealed ...

Obstructive sleep apnea/hypopnea syndrome is a common condition affecting approximately 0.3–4% of the middle-aged population. A hereditary component to the condition has long been identified but the genetic basis has been difficult to elucidate. Not least of the difficulties resides in a single definition of the phenotype. In an attempt to unravel some of the components, which might contribute ...

The clinical and immunologic data in a case of rheumatoid arthritis complicated by serum hyperviscosity are reported. The elevation in the serum viscosity was accompanied by the presence of intermediate immune complexes which were partially purified from the patient's serum by gel filtration chromatography. These complexes had a molecular weight of approximately 510,000 daltons and contained po...

OBJECTIVE We tested therapeutic efficacies of different hemoperfusion frequencies in patients with acute severe organophosphate poisoning (ASOP). PATIENTS AND METHODS 36 patients with ASOP were enrolled in this study and divided into two groups. Patients in the repeated hemoperfusion group (n=20) received 3-4 hemoperfusions within 48 hours after poisoning, while other patients (n=16) received...

The 5' untranslated CGG repeat in the fragile X mental retardation-1 (FMR1) gene is expanded in families with fragile X syndrome, with more than 200 CGGs resulting in mental retardation due to the absence of the encoded fragile X mental retardation protein (FMRP). Intermediate and premutation alleles, containing between approximately 40 and 200 repeats, express grossly normal FMRP levels and su...