Biological medical products are drugs whose active components are produced only by living, genetically modified organisms or live cell cultures. Patents and exclusivity for most biopharmaceuticals ...has either expired or will expire soon, which enables biotechnological companies to introduce similar biological products. The problem of replacing a biological medicine with a biosimilar in the course of therapy remains open. In this statement, the Working Group of the Polish National Consultant in Gastroenterology, in the absence of data regarding bioequivalence in patients with inflammatory bowel disease, does not recommend switching from original biological medicine to its biosimilar analogue in the course of treatment in inflammatory disease patients; however, this may change after receiving the results of controlled studies regarding bioequivalence in this group.
Over a period of 5 years, 124 patients were operated on at the National Institute of Cardiology in Warsaw for acute aortic dissection, 27 of whom died. The 97 patients discharged from the hospital ...were included in the present analysis. The age of the patients ranged from 25 to 73 years with a mean of 50±10 years. Ultrasound examination of carotid arteries was performed with the patient lying on his back using a Toshiba 340A color Doppler system with a linear array probe of 7.5 MHz. Of the 97 patients examined, 15 (15%) had a dissection of at least one of the common carotid arteries (CCA). Two had Marfan syndrome. In 11 patients the dissection involved the right common carotid artery and in four it involved both the left and right common carotid arteries. The flow in the true lumen of CCA and ICA was preserved in all patients and the degree of narrowing ranged from 30 to −70%. Only one of the 15 patients with CCA dissection had an ipsilateral neurological deficit which was already present before the aortic aneurysm operation. Ultrasound follow-up was performed in all patients with the CCA dissection found on first examination. The mean duration of follow-up was 21 months. In 14 patients the degree and extent of the dissection as well as the narrowing of the true lumen was comparable, and in one patient the false channel closed spontaneously. During follow-up there were no new major neurological events despite the persistence of the CCA dissection with different degrees of narrowing of the true lumen. Doppler ultrasound examination of the carotid arteries can supply additional information about the extent of the dissection, and help to assess the flow in the persisting ‘double channel’ common carotid artery during the follow-up of patients.
Three mutations in mitochondrial DNA complex I genes are responsible for over 90% of Leber hereditary optic neuropathy (LHON) cases in Europe. A family with two LHON mutations--practically ...homoplasmic 11778G>A and varying levels of 3460G>A--was found during analysis of Polish patients. DNA and visual acuity was analyzed in four affected brothers and their unaffected sister and mother as well as in their step brother. Four male patients experienced vision loss around the age of 20 while for their step brother the onset was late--at the age of 33. No additional neurological symptoms were observed and both women were completely asymptomatic. The mutation occurred in a haplogroup H background, the most common one in both the Polish population and among patients. Double LHON mutations are extremely rare, and this particular combination has not been previously described in the literature.
Mitochondrial diseases may cause a wide range of central and peripheral nervous system disorders, as well as muscle disorders. The diagnostic workup routinely includes electrophysiological, ...morphological, neuroimaging and genetic studies. In some cases, the diagnosis may be ascertained only when mitochondrial DNA (mtDNA) examination in the muscle is performed. We report on a case of a 24-year-old woman, with a 7-year history of slowly progressive cerebellar syndrome and bilateral ptosis. Mitochondrial encephalomyopathy was suspected, based on the clinical picture and results of examinations, but the typical red ragged fibers were not found in the muscle biopsy. The results of molecular analysis of mtDNA showed a mtDNA deletion in the muscle and, on a level detectable only with polymerase chain reaction method, in blood leukocytes. This case emphasizes the important role of mtDNA studies in muscle in nonspecific multisystem mitochondrial disorders, even without clinical muscle involvement.
Mitochondrial cytopathies are heterogeneous disorders affecting multiple systems but most commonly involving the skeletal muscle and central nervous system. The variety of symptoms and signs requires ...biochemical, morphological and genetic evaluation. The results of genetic studies indicate that there is no direct correlation between genotype and phenotype in mitochondrial cytopathies. This study is the first such analysis of a group of Polish patients with mitochondrial cytopathies. Its aim is to define the clinical features of mitochondrial cytopathies in relation to their genetic defects.
In a retrospective study, 46 patients with final diagnosis of mitochondrial cytopathy were evaluated clinically and electrophysiologically. Each patient underwent electromyography, electroneurography, and some patients were also assessed using electroencephalography. Clinical diagnoses were confirmed through the histopathological evaluation of muscle biopsies. In 36 cases mitochondrial DNA (mtDNA) testing was performed.
Eight different clinical syndromes were diagnosed among the evaluated patients. In the skeletal muscle biopsy, ragged-red fibres, which are a significant symptom for these disorders, were present in the majority of cases (93%). The presence of specific gene mutations was confirmed in 9 out of the 36 cases in which mtDNA was examined.
The results of our study confirm the remarkable clinical heterogeneity of mitochondrial cytopathies. Final diagnosis in many cases could only be confirmed by detection of the genetic defects. Molecular diagnosis may in the future have a significant impact on new therapeutic approaches.
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