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Biomedical subjects

K Nowak

Publications and source records attributed to K Nowak.

At least 19 recordsLinked to original sources
PubMed2001

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder characterized by muscle weakness and the presence of nemaline bodies (rods) in skeletal muscle. Disease-causing mutations have been reported in five genes, each encoding a protein component of the sarcomeric thin filament. Recently, we identified mutations in the muscle alpha-skeletal-actin gene (ACTA1) in a subset of patients with NM. In the present study, we evaluated a new series of 35 patients with NM. We identified five novel missense mutations in ACTA1, which suggested that mutations in muscle alpha-skeletal actin account for the disease in approximately 15% of patients with NM. The mutations appeared de novo and represent new dominant mutations. One proband subsequently had two affected children, a result consistent with autosomal dominant transmission. The seven patients exhibited marked clinical variability, ranging from severe congenital-onset weakness, with death from respiratory failure during the 1st year of life, to a mild childhood-onset myopathy, with survival into adulthood. There was marked variation in both age at onset and clinical severity in the three affected members of one family. Common pathological features included abnormal fiber type differentiation, glycogen accumulation, myofibrillar disruption, and "whorling" of actin thin filaments. The percentage of fibers with rods did not correlate with clinical severity; however, the severe, lethal phenotype was associated with both severe, generalized disorganization of sarcomeric structure and abnormal localization of sarcomeric actin. The marked variability, in clinical phenotype, among patients with different mutations in ACTA1 suggests that both the site of the mutation and the nature of the amino acid change have differential effects on thin-filament formation and protein-protein interactions. The intrafamilial variability suggests that alpha-actin genotype is not the sole determinant of phenotype.

Actins↗
PubMed2001

Synthesis of tetrapeptide p-nitrophenylanilides containing dehydroalanine and dehydrophenylalanine and their influence on cathepsin C activity.

Three dehydrotetrapeptides of rationally varying structure were prepared and tested as affectors of cathepsin C. These compounds appeared to be substrates of the enzyme, being equipotent with their classical counterparts. Thus, replacement of amino acid in a short peptide by corresponding dehydroamino acid does not prevent cathepsin C in recognizing dehydropeptide as its substrate.

Alanine↗
PubMed2001

Application of neural networks to the classification of pancreatic intraductal proliferative lesions.

The aim of the study was to test applycability of neural networks to classification of pancreatic intraductal proliferative lesions basing on nuclear features, especially chromatin texture. Material for the study was obtained from patients operated on for pancreatic cancer, chronic pancreatitis and other tumours requiring pancreatic resection. Intraductal lesions were classified as low and high grade as previously described. The image analysis system consisted of a microscope, CCD camera combined with a PC and AnalySIS v. 2.11 software. The following texture characteristics were measured: variance of grey levels, features extracted from the grey levels correlation matrix and mean values, variance and standard deviation of the energy obtained from Laws matrices. Furthermore we used moments derived invariants and basic geometric data such as surface area, the minimum and maximum diameter and shape factor. The sets of data were randomly divided into training and testing groups. The training of the network using the back-propagation algorithm, and the final classification of data was carried out with a neural network simulator SNNS v. 4.1. We studied the efficacy of networks containing from one to three hidden layers. Using the best network, containing three hidden layers, the rate of correct classification of nuclei was 73%, and the rate of misdiagnosis was 3%; in 24% the network response was ambiguous. The present findings may serve as a starting point in search for methods facilitating early diagnosis of ductal pancreatic carcinoma.

Adenocarcinoma↗
PubMed2001

[A case of objective tinnitus caused by palatal myoclonus].

The very rare case of palatal myoclonus manifesting in objective tinnitus was discussed. Options of surgical and pharmacological treatment were analysed with particular emphasis of therapeutic success with application of muscle-relaxant--Baclofen.

Baclofen↗
PubMed2001

[An oligosymptomatic case of pheochromocytoma].

A case of 34-year old female with incidentally diagnosed adrenal tumour is discussed. The patient complained only of mild headaches and heart palpitations and was not previously treated for hypertension. A diagnosis of pheochromocytoma was made. The diagnostic controversies arose because of subclinical course of the disease, slightly elevated biochemical markers of pheochromocytoma (catecholemines urinary excretion) and non-characteristic result of glucagon stimulation test results. The diagnosis was confirmed by histologic examination of tumour tissue. Presented case indicates the need for thorough clinical and hormonal evaluation of patients with incidentaloma (particularly, when adrenal tumour diameter is larger than 3 cm) to avoid serious complication of surgery treatment in case of misdiagnosis.

Adrenal Gland Neoplasms↗
PubMed2001

[Does the electrodes insertion depth influence speech rehabilitation progress in CI patients?].

Many interdisciplinary teams from difference CI centers are studying speech rehabilitation process of implanted patients. Speech rehabilitation progress depend on many conditions like: duration of deafness, age at implantation, cause of deafness. Rehabilitation of postlingually deafened patients is very short. These subjects return very fast to the world of sounds. By the other side speech rehabilitation of prelingually deafened patients needs much more time (years). There are although well seen differences in language skills acquisition inside these groups. It confirmed, that speech rehabilitation after cochlear implantation could depends on others conditions as well. The aim of this study was electrodes insertion depth evaluation (cochleograms) and its influence on speech rehabilitation progress.

Cochlear Implantation↗
PubMed2001

[Poorly differentiated carcinoma of the thyroid--immunohistochemical evaluation of p53 and p27 protein expression].

Thyroid carcinomas represent a broad spectrum of tumours with different biologic behaviours. The gap between the indolent course of well-differentiated papillary and follicular carcinomas and the very aggressive behaviour of anaplastic carcinomas is filled by variants of thyroid carcinoma with intermediate prognosis, designated in the literature as poorly differentiated (with insular, trabecular and solid patterns) and tall/columnar cell variant of papillary carcinoma. The study has been carried out in 103 patients who had thyroid cancer with various grade of differentiation. The diagnostic significance of p53 and p27 expression in tumor cells has been investigated by immunohistochemical analysis. Well differentiated carcinomas have exhibited the lowest p53 staining frequency, the expression has been higher in poorly differentiated carcinomas and 100% of anaplastic carcinomas have been positive p27 immunohistochemistry has been positive in 80% of investigated carcinomas (in 15% strong positive reaction). In the group of poorly differentiated tumours positive reaction has been observed in 75% cases (in 15% strong positive reaction). Our data suggest that expression of p53 and p27 seems to have limited routine diagnostic significance, but p53 positivity is a good marker of tumour progression.

Adenocarcinoma, Follicular↗
PubMed2001

[Expression of protein p53: the marker of low neoplastic cell differentiation in thyroid carcinoma].

UNLABELLED: The aim of the study was to evaluate the frequency of positive staining of p53 protein in the course of thyroid carcinoma and to establish the prognostic value of such expression. MATERIAL AND METHOD: Immunohistochemical staining of frozen sections was performed in 159 patients with thyroid carcinoma (139 females and 29 males). The average age was 50.4 years. All patients have been followed-up for at least 5 years and the average time of observation was 10.7 years. There were 46% patients with papillary carcinoma, 39% with follicular carcinoma and 15% with poorly differentiated thyroid carcinoma in the study group. Additionally, staining was performed in 6 cases of anaplastic carcinoma. The expression of p53 protein was assessed by two-degree scale: a medium (10% of cells with positive staining) and strong (50% of positive staining). RESULTS: In the group of 135 patients with well differentiated thyroid carcinoma the expression of p53 protein has been found in 55 cases (40.1%) but significantly more often in medium (69.1%) than in strong degree (30.9%). Significantly more often in expression has occurred among patients with poorly differentiated carcinoma (66%) and anaplastic carcinoma (100% of patients with strong expression in all cases). Comparing the frequency of p53 protein expression on every stage of disease, no significant difference has been found. The presence of p53 protein has not correlated with reduced changes in survival. In multivariate analyses the expression of p53 protein have not shown prognostic value. CONCLUSION: The expression of p53 protein has concerned the poorly differentiated carcinomas of thyroid and has not correlated with the stage of disease. No influence of expression on clinical course of the well differentiated thyroid carcinoma has been found. Worse prognoses have correlated with poor differentiated thyroid cancer cases and with strong expression of p53 protein.

Adenocarcinoma, Follicular↗
PubMed2000

[Chronic inflammation of the colon: a diagnostic problem].

Chronic inflammation of the colon and rectum with associated diarrhea has become more difficult to diagnose recently. Many etiological factors and different therapeutic outlines need to be carefully discussed and summarized. Based on most recent literature, authors present current data on etiology and specific (case-depended) diagnostic procedures in colitis and proctocolitis.

Chronic Disease↗
PubMed2000

[A case of neuroma in the sublingual region].

Neuromas are being mesenchymal tumors which are very rare in the mouth. The authors presented the case of the tumour of this localisation of 46-year old female, treated in the Department of Otolaryngology University School of Medical Sciences in Poznan, with suspicion of sublingual cyst.

Cysts↗
PubMed2000

[The usefulness of ultrasonic examination for diagnosis of congenital lateral and medial neck cysts].

In the study results of ultrasound examination of 169 patients treated in ENT Department in Poznań with clinical suspicion of congenital neck cyst were analysed. It was made methodic evaluation of ultrasound examination and confrontation of ultrasound attributes characteristic for each type of cyst--complicated and uncomplicated by inflammation. Results were compared with intraoperative.

Adolescent↗
PubMed2000

[Measurement of vascular density in proliferative lesions of the thyroid gland].

In the present study vascular density was measure in histopathological slides of the simple goiter (15 cases) and of the same proliferative condition of the thyroid gland (113 cases) including adenoma (29 cases) and carcinoma (16 cases). Epithelial antibody CD31 and vWF identified vessels with the help of semiautomatic image analysis system. It has been shown that the highest values were typical for neoplastic tumors. However significant overlap has been shown. Statistically significant differences were very weakly seen between neoplasm's and thyroid hyperfunction. Also differences between carcinomas and adenomas were of low significance. Probably this is because of great heterogeneity of carcinomatosus neoplasms included in this study. Unexpectedly there were also no statistically significant differences between simple goiter, hyperplasia and thyroid hyperfunction.

Adenoma↗
PubMed1999

Proliferation index and karyometric features of pancreatic intraductal proliferative lesions.

The increasing frequency and poor prognosis in pancreatic cancer prompt us to search for morphological lesions being a substrate for its development. Studies of autopsy and surgically resected material as well as recent molecular studies have proved that one of the possible pathways of pancreatic neoplasia is the intraepithelial proliferation--dysplasia--cancer sequence. In the present paper we studied the proliferative activity (Ki-67 index) in pancreatic intraepithelial proliferative lesions and its correlation with geometric features of cell nuclei as signs of increasing dysplasia. The studies were carried out in a group of 35 patients operated on for pancreatic cancer, chronic pancreatitis and other conditions not associated with the pancreas. We used immunohistochemical methods and basic morphometric parameters. The results of our studies indicate that the cell proliferative activity depends both on the type of epithelial proliferation and underlying pancreatic disease. The values of Ki-67 index are significantly different in low-grade proliferation (flat and papillary hyperplasia) and high-grade proliferation (atypical papillary hyperplasia and carcinoma in situ). A set of karyometric features correlates with Ki-67 index but there is no single feature which would have a diagnostic value.

Aged↗
PubMed1999

CD44 isoforms expression in intraductal and invasive pancreatic cancer and its correlation to p53 gene mutations.

The expression of the CD44 antigen and its isoforms is found in many normal and malignant tissues. Numerous studies indicate that the antigen affects the course of the disease, and its v6 isoform exerts a particularly negative effect on the prognosis. High CD44s (standard) and v6 isoform expression has been noted in pancreatic cancer. A similarly common genetic change in pancreatic cancer is the p53 gene mutation. The aim of the investigation was to study the expression of the CD44s and CD44v6 antigens in invasive and intraductal pancreatic cancer and its possible correlation to the p53 gene mutations. Immunohistochemical studies were carried out in 12 patients operated on for pancreatic cancer, in whom intraductal cancer had been detected in addition to infiltrating cancer. The results indicate that pancreatic cancer is characterized by a high, yet independent expression of CD44s and the p53 protein. CD44s expression shows no correlation with the degree of tumor differentiation, while v6 expression is higher in cancers with higher histological malignancy grades. Intraductal pancreatic cancers show a similarity to invasive cancers with respect to CD44s and v6 expression, what indicates that already at the stage of its intraductal growth pancreatic cancer manifests the presence of properties affecting its invasiveness and tendencies to metastasizing.

Adenocarcinoma↗
PubMed1999

Effect of Helicobacter pylori infection, smoking and dietary habits on the occurrence of antrum intestinal metaplasia. Clinico-epidemiological study in Poland.

The purpose of the study was to assess risk factors for intestinal metaplasia arising from H. pylori-related chronic gastritis in a subset of the population referred to endoscopic examinations due to dyspeptic complaints. We aimed specifically to establish whether H. pylori itself may be responsible for the occurrence of intestinal metaplasia and to which extent the metaplasia may be associated with life style factors such as cigarette smoking, alcohol consumption or dietary habits. The study was carried out in a sample of 1290 outpatients referred for the first time to gastroenterologic outpatient clinics in 6 university centers in Poland. The study methods covered standardized health interviews, endoscopy and histology of gastric antral specimens taken at endoscopy. The interviews performed by trained interviewers sought information on tobacco and alcohol intake, diet, socioeconomic status, and other variables. In non-ulcer dyspepsia subjects there was 54.9% H. pylori related gastritis and 25.1% of non-H. pylori-related gastritis. The corresponding rates in the group of ulcer dyspepsia were 67.5% and 20.5%. The increased risk of chronic gastritis in antrum was associated with Helicobacter pylori infection (OR = 2.28; 95% CI:1.93-2.69), and with gastric peptic ulcer (OR = 1.88; 95% CI:1.20-2.94). In the non-ulcer dyspepsia the prevalence of metaplasia was 11.1% and in ulcer dyspepsia 19.7%. The risk of intestinal metaplasia within antrum depended greatly upon the presence of gastric peptic ulcer (OR = 3.85; 95% CI:2.35-6.32) and increased with age (OR = 1.05; 95% CI:1.04-1.07), smoking cigarettes currently or in the past (OR = 1.42; 95% CI:1.10-1.84), higher frequency of drinking vodka (OR = 1.32, 95% CI:1.01-1.75) and antral chronic gastritis (OR = 1.31; 95% CI:1.00-1.70), however, it was inversely related to daily consumption of fresh fruits or vegetables (OR = 0.59; 95% CI:0.38-0.93). The results of the study suggest that there is no sufficient evidence supporting the hypothesis about an association between H. pylori gastritis and intestinal metaplasia, however, the transition of gastritis to metaplasia depends greatly on life style factors such as cigarette smoking or vodka drinking and is impeded by daily consumption of fresh fruits or vegetables.

Alcohol Drinking↗
PubMed1999

[The historical significance of the Polish medical faculty in Edinburgh].

The Polish Medical Faculty at the University of Edinburgh was a unique phenomenon in the history of universities. Established during the Second World War in 1941 as an entirely autonomous Polish academic institution, the Faculty trained 228 doctors and awarded 19 PhD degrees during its nine years of formal existence (1941-1949). In reviewing its almost 60-year old history, seen in the context of the involvement of the elite of both the political and academic establishments, the splendour of various celebrations and its graduates devotion in keeping the "Edinburgh experiment" alive, the author makes a case for the long-term historical and psychological significance of events well outlasting the period of formal activity of the Faculty. The history of the Faculty is well documented, but the long term outcome in terms of its lasting historical importance is gradually emerging with the passage of time. It has become an indisputable testimony to the generosity and hospitality of the Scottish (political and) academic establishment and a lasting proof of the special liaison between the Scots and the Poles. The Faculty's importance and psychological significance to the rich historical heritage of Polish medicine and the notion of patriotism and loyalty to Polishness have become apparent in the ensuing decades of its carefully maintained tradition. The existence of the Polish Medical Faculty has become an extraordinary asset in the history of Scottish universities, but for the Polish tradition both in Poland and throughout its rich diaspora it constitutes an increasingly valuable historical event which deserves to be cultivated and passed on to younger generations so that it may continue bringing further dividends, so important to national identity, achievement, dignity and pride.

Faculty, Medical↗