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Biomedical subjects

M Sasiadek

Publications and source records attributed to M Sasiadek.

50 records · Page 3Linked to original sources

CT appearance of bilateral, acute thrombosis of the main cerebral arteries.

Acute thrombosis within the lumen of the intracranial artery may occasionally be demonstrated on precontrast CT. The hyperdensity follows the course of the occluded segment of the vessel and an area of low attenuation in the territory of the involved artery is usually present, consistent with infarction. Usually, a single vessel is involved; occlusion of multiple branches occurs less commonly. This report demonstrates a case of diffuse bilateral thrombosis of the main arteries of the anterior circle of Willis.

Aged↗

8q22-->qter duplication in a child with multiple congenital malformations: case report.

BACKGROUND: Congenital malformation syndromes are often caused by unbalanced chromosome translocations, which appear spontaneously or may be inherited from a healthy parent being the carrier of a balanced reciprocal translocation (rcp). Breakpoints, underlying chromosome fragment exchanges, may be located at any point of any chromosome and therefore, an infinite number of different translocations is possible. Special emphasis is placed both on the clinical characterization of every rare chromosomal aberration syndrome and on the determination of its breakpoints. OBJECTIVES: Diagnosis of a 8q22-->qter duplication in a child with multiple congenital malformations. MATERIAL AND METHODS: We determined the karyotypes of the five members of proband's family were established by using classical cytogenetic methods on whole blood obtained by venipuncture. RESULTS: We described a rare familial reciprocal translocation t(8; 14), observed in balanced form in mother and one healthy son, while being unbalanced in the son with congenital malformations. CONCLUSIONS: Balanced chromosome 8 aberration carriers should be aware of the procreation risks and need genetic counseling.

Abnormalities, Multiple↗

[Ischemic cerebellar and brain stem lesions in CT findings].

The author analysed CT studies of 117 patients with ischaemic lesions of the cerebellum and brainstem. The clinical appearance in these cases is often unspecific. This was confirmed by false clinical diagnosis in most patients. CT diagnosis is particularly difficult in cases with mass effect which was found in 24.8% of the patients. Follow-up CT studies can help in proper diagnosis. The territory of the superior cerebellar artery was most frequently involved in the cerebellum, while the territory of the paramedian perforating in the brainstem. In 26.5% of the patients ischaemic lesions of the cerebellum and/or brainstem were bilateral, in 39.3% were accompanied by cerebral infarcts. It can be concluded that they are the component of general vascular insufficiency of the whole bain.

Adult↗

[Analysis of the reversibility of CT brain changes in alcohol dependent patient].

Control CT assessments of the brain of 15 alcohol dependent patients who showed an improvement in their clinical state were performed after a mean of 16 months. A partial decrease of the widening of cerebral sulci and the third ventrical was noticed. Also, the neuroradiological pictures of the vermis and cerebellum were seen to improve in most patients.

Adult↗

[Genetic studies of brain gliomas].

Tumour origin and evolution currently is viewed as comprising a series of specific genetic events that take place in target cells and their clonal descendants. These events can be recognized at two levels: cytogenetic and molecular. The genetic results can be used as diagnostic and prognostic markers of neoplastic diseases. However, till now reports on the karyotypic characteristics of brain tumors are far from numerous. The most frequent cytogenetic alterations observed in primary brain tumors are losses or gains of chromosomes or chromosomal regions and presence of double minute chromosomes. Enhanced expression of several cellular oncogenes on human glioma cells lines were observed also.

Brain Neoplasms↗

[Indications for CT examination of the head in infants and young children].

308 CT scans of the head in children below 3 years of age were analysed. 70% of children were younger than 1 year. The most common findings in this age group were subdural effusions (usually no wider than 10 mm) and hydrocephalus. The authors conclude that the indications to CT scan should be more rigorous because of the high dose of the ionizing radiation applied. Ultrasonography should be the initial investigation in the children with persistent fontanellae+ as it has a similar diagnostic efficiency without harmful effect to the child body.

Age Factors↗

[Multiple sclerosis coexisting with myasthenia].

In a male patient multiple sclerosis was found to coexist with myasthenia. The symptoms of muscle fatiguability and of central nervous system damage developed at the same time. Multiple sclerosis was the predominating disease, especially in later stage of the disease. The authors discuss the possibility of a common immunological substrate for both conditions.

Brain↗

[Analysis of difficulties in CT diagnosis of hypodense brain tumors].

The author analysed CT findings in 30 cases of hypodense brain tumours confirmed histopathologically or with MR. Differential diagnosis of these tumours is difficult and should include ischaemic, traumatic and inflammatory lesions. However after detailed analysis of CT and clinical findings correct diagnosis was obtained in 86.7% of cases. The most frequent histopathological diagnosis in our series was low-grade astrocytoma but one third of the confirmed tumours proved to be malignant. Follow-up CT studies and MR imaging can be helpful in doubtful cases.

Adolescent↗

The reversibility of CT brain changes in alcohol dependence.

Control CT assessments of the brain of 15 alcohol dependent patients who showed an improvement in their clinical state were performed after a mean of 16 months. A partial decrease of the widening of cerebral sulci and the third ventrical was noticed. Also, the neuroradiological pictures of the vermis and cerebellum were seen to improve in most patients.

Alcohol Drinking↗

[CT of early ischemic lesions of the brain].

Thirty CT studies performed in the first 24 hours after the onset of the ischemic stroke were analyzed. In all cases direct or indirect diagnosis of the ischemic infarction was possible on the basis of CT images. The main symptom was slight decreased density in the infarction area which occurred in 80% of the patients. The second important sign was mass effect (63.3% of the patients). The significance of the early CT diagnosis of the ischemic lesions increases due to the development of the methods of the early antithrombotic treatment, especially intraarterial thrombolysis.

Adolescent↗

Debrisoquine hydroxylase gene polymorphism in neurofibromatosis type 1.

Cytochrome P450 CYP2D6 polymorphism is an autosomal recessive trait leading to impaired sparteine/ debrisoquine metabolism in 5-10% of the Caucasian population. Previous studies have associated affected individuals (poor metabolizers = PM) with susceptibility to bladder cancer and various forms of leukemia. In many other cancer forms, the data remain contradictory. A PCR assay allows the convenient screening of about 90% of known mutations resulting in the PM phenotype. Since in patients with neurofibromatosis type 2, we had observed a significantly increased rate of CYP2D6 mutations leading to PM and apparently predisposing for NF2, we extended our investigation to tumor and peripheral blood samples obtained from NF1 patients. Although the number of cases investigated remains low, the study indicated that during tumor formation no changes occurred at the mutational hot spot within the CYP2D6 sequence. Moreover, no loss of heterozygosity was notable. However, the frequency of the mutated allele in the NF1 individuals is comparable to that of neurofibromatosis type 2 and above that observed in breast and colon cancer, or meningiomas.

Adolescent↗