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Content available remote Wilson’s disease
Wilson’s disease is an autosomal-recessive disorder caused by mutation in the ATP7B gene. Absent or reduced function of ATP7B protein leads to decreased hepatocellular excretion of copper into bile. Subsequent copper accumulation, first in the liver but ultimately in the brain and other tissues, produces different clinical manifestations such as hepatic, neurological, hematological, ophthalmological, and psychiatric problems. Diagnosis is based on clinical suspicion, parameters of copper metabolism, ophthalmic examination (Kayser-Fleischer rings) and a liver biopsy. Genetic studies are of limited use. Early diagnosis and initiation of therapy with chelators and therapeutic plasma exchange therapy are essential for prognosis. Liver transplantation corrects the underlying pathophysiology and can be lifesaving in fulminant hepatic failure. Screening of siblings and 1st degree relatives of the patients is also important.
Content available remote Parkinson’s disease: the most common diagnostic mistakes in Lithuania
Parkinson’s disease (PD) belongs to group of neurodegenerative diseases. PD diagnosis is clinical, based on these signs: tremor, rigidity, bradykinesia, akinesia or hypokinesia. The aim of the work was to determine the frequency of separate clinical forms of Parkinson’s disease and difficulties at this disease diagnosis. After examining 267 patients, foreseen clinical criterion of Parkinson’s disease correspond 202 (44.0% persons) − 115 women and 87 men and for 65 patients diagnosis of PD was not confirmed, because they did not correspond with accepted criteria of Parkinson’s disease. While analyzing clinical peculiarities of disease we ascertained that rigidity-tremor form of disease prevailed for 152 (75.2%, 86 women and 66 men) patients. The rigidity form was more rare − 28 (13.9%, 13 women and 15 men). Not very frequent was a tremor form of disease -− 22 (10.9%, 16 women and 6 men) patients. According to data of our research, for almost one fourth of patients (65, 24.3%) the diagnosis of Parkinson’s disease was not confirmed after clinical examination. These patients did not correspond with clinical criteria of PD. The data of our research maintain that for almost one fourth (one fourth of what?) (24.3%) the diagnosis was incorrect. Although these patients did not correspond with accepted criteria of PD, they had been treated with antiparkinsonic medications. The PD diagnosis for them was determined only according to separate symptoms: tremor, gait alterations or memory deterioration and behaviour alternations. It must be noted, that symptoms of Wilson’s disease, MSA or brain infarction were estimated as PD. Examining patients at home, we ascertained that not all patients use prescribed L-dopa preparations. A part of patients or their relatives stopped using of this drug independently. We also made note of the fact that urinary incontinence manifested using dopamine agonist ropinirole. This side effect became significant problem for patient himself and for his relatives.
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