Język informacyjno-wyszukiwawczy jako narzędzie organizacji informacji w dziedzinowych systemach hipertekstowych

W rozprawie przedstawiono studium analityczne z zakresu wykorzystania języka informacyjno-wyszukiwawczego w organizacji informacji w dziedzinowych systemach hipertekstowych. Dokonano charakterystyki modelu dziedzinowego systemu hipertekstowego oraz wskazano na jego cechy dystynktywne. W rozprawie przyjęto koncepcję organizacji informacji w systemach informacyjnych przetwarzających metainformacje, na którą składają się procesy reprezentacji informacji, identyfikacji cech wyszukiwawczych oraz organizacja punktów dostępu. W rozprawie wskazano udział języka informacyjno-wyszukiwawczego w każdym z tych etapów w odniesieniu do dziedzinowych systemów hipertekstowych. Grupę reprezentatywną stanowiło 30 systemów. Wyniki badań umożliwiły opracowanie trzech wariantów budowy narzędzi dostępu do zasobów omawianego typu systemów informacyjnych, w których wykorzystuje się język informacyjno-wyszukiwawczy

Surgical treatment of neuronal-glial tumors of mesial-basal part of temporal lobe: Long term outcome and control of epilepsy in pediatric patients

Background Neuronal-glial tumors (ganglioglioma and dysembryoplastic neuroepithelial tumor) are a frequent cause of focal, drug-resistant and epilepsy in children and young adults, that is amenable for surgical treatment. Aim of paper Assessment of late outcome of surgical treatment and degree of seizure control, as well as prognostic significance of selected clinical factors. Material and method 52 Pediatric patients presenting with epilepsy, lesion of mesio-basal temporal lobe and histologically verified neuronal-glial tumor treated at our facility since 2000–2011. Results After the mean follow-up of 2.94 years, satisfactory treatment outcome (Engel classes I and II) was obtained in 92% of the patients (n=48). Poor outcome (Engel class III) was seen in 8% of patients (n=4). New neurological deficits appeared in 28% of the patients (n=20) but in most of them resolved over time. Conclusions In patients with drug-resistant epilepsy and a lesion of mesial-basal part of temporal lobe suggestive of a glial-neuronal tumor, surgical treatment is strongly recommended, aiming at excision of tumor and elimination of seizures. Histological verification of the lesion is a pre-requisite for optimal treatment planning. In most patients, both treatment goals may be reached. Short duration of epilepsy prior to surgery and young age are favorable prognostic factors. Histological diagnosis of GG, co-existence of cortical dysplasia and location of tumor extending beyond mesial-basal temporal structures are associated with a higher risk of postoperative complications. These may out-weight expected benefits of surgery

Solitary pulmonary nodule — the role of imaging in the diagnostic process

A solitary pulmonary nodule is a round opacity less than 30 mm in diameter surrounded by normally aerated lung tissue. Determination of the character of the lesion following its detection (particularly when the identification was incidental) may require a complex diagnostic process. In most cases, nodules are benign in character; however, the probability of malignancy increases significantly for part-solid lesions. The main features that describe the solitary pulmonary nodule in computed tomography scans include their size, shape, density, presence of calcification and rate of growth. PET-CT examination provides additional information on the metabolic activity of the lesions, and MRI is helpful in assessment of local invasion of surrounding structures. Due to limited availability and highly specialized character, these examinations are not routinely used. Therefore, despite development of other imaging modalities, computed tomography remains the most important and crucial diagnostic tool. Clinical risk factors such as age or smoking status are very important for evaluation of the likelihood of malignancy of a nodular lesion. Due to the multidisciplinary nature of data required for complex assessment of a solitary nodular lesion, management routines are needed in the diagnostic process such as those proposed by the Fleischner Society

Predictive factors for the recurrence of Cushing’s disease after surgical treatment in childhood

Introduction: Cushing’s disease (CD) is a rare cause of hypercortisolaemia caused by excessive adrenocorticotropic hormone (ACTH) excretion by a pituitary adenoma. Data on the predictive factors for the recurrence of the disease are limited in comparison with those for the adult population. The identification of the predictive factors for CD recurrence in patients after surgical treatment in childhood was the aim of the presented study. Material and methods: A retrospective analysis of 26 CD patients, mean age at the time of diagnosis 13.46 years, treated at the Children’s Memorial Health Institute (CMHI) in the years 1994–2018. Two time points were set at which the follow-up (FU) of patients was finished. The first time point (shorter FU, 24 patients) was set when the patients completed their treatment at the CMHI. The second time point (longer FU, 26 patients) was determined on the basis on the time when adult patients (previous CMHI patients) completed the author’s questionnaire. In the case of the other patients (current CMHI paediatric patients and patients who did not respond to the questionnaire), the latest FU in this second time point was made during the last visit to the CMHI. The predictors of disease recurrence were evaluated by the construction of a logistic regression model and receiver operating characteristics. Results: The average FU after transsphenoidal pituitary surgery (TSS) of 26 patients was 10.23 years (0.67–24.50). Recurrence of CD occurred in four out of 26 patients (15.4%) after an average time of 3.6 years (0.92–8.08) following definitive treatment. The results of the statistical analysis of potential predictive factors for CD recurrence were not conclusive, with no variables confirmed above the statistical significance threshold of p < 0.05. As regards the longer FU, two potential predictors: mean cortisol level at night (p = 0.10) and max. ACTH level after ovine corticotropin-releasing hormone (oCRH) test (p = 0.10), were the closest to meeting the assumed threshold of statistical significance. Conclusion: Recurrence of CD may be diagnosed even a long time after its effective treatment. It is possible that cortisol levels at night and ACTH values in oCRH test before TSS may be helpful to predict which patients may experience a recurrence after successful initial treatment. However, further studies on a larger sample are needed to confirm this hypothesis

Olbrzymi naczyniak jamisty móżdżku u 4-miesięcznego niemowlęcia. Opis przypadku i przegląd piśmiennictwa

Cavernous malformations (CMs) are rare vascular lesions that affect 0.4–0.9% of the population. The diagnosis of CMs is simple in most typical cases although some lesions may present unusual imaging features: localization, signal intensity, or size. Extremely rare giant CMs can mimic neoplastic lesion because of their size. We report a case of giant cerebellar CM that is more than 6 cm in size, diagnosed in 4-month-old boy. We discuss magnetic resonance findings and histopathological features of this lesion.Naczyniaki jamiste to rzadkie zmiany naczyniowe, występujące u 0,4–0,9% populacji. Ich rozpoznanie w większości typowych przypadków jest łatwe, ale niektóre zmiany mogą stwarzać trudności diagnostyczne związane z nietypową lokalizacją, ich intensywnością sygnału lub wielkością. Niezwykle rzadkie gigantyczne naczyniaki jamiste mogą imitować zmiany nowotworowe. Autorzy przedstawiają 4-miesięczne niemowlę, u którego rozpoznano olbrzymi naczyniak jamisty zlokalizowany w móżdżku o wymiarze większym niż 6 cm. Omawiają cechy naczyniaka w badaniu za pomocą rezonansu magnetycznego oraz wynik badania histopatologicznego

Association of genetic dependences between lung cancer and chronic obstructive pulmonary disease

WSTĘP: Dotychczasowe wyniki badań wskazują na zwiększone ryzyko zachorowania na raka płuca u osób ze zmianami obturacyjnymi oskrzeli, w tym u chorych na przewlekłą obturacyjną chorobę płuc (POChP). Wydaje się, że istnieją wspólneczynniki patogenetyczne obu chorób związanych ze zjawiskiem stresu oksydacyjnego. Przedmiotem oceny stały się geny związane z procesami naprawy oksydacyjnych uszkodzeń DNA, geny związane z nowotworami, z metabolizmem żelaza i geny enzymów proteolitycznych.MATERIAŁ I METODY: Badanie przeprowadzono w dwóch grupach pacjentów liczących łącznie 107 osób: 53 chorych na raka niedrobnokomórkowego płuca i POChP oraz 54 chorych tylko na POChP. W przypadku większości genów oznaczono polimorfizm pojedynczego nukleotydu metodą analizy długości fragmentów restrykcyjnych (RFLP). Analizy statystycznej zmiennych ilościowych dokonano testem U Manna-Whitneya i testem median, analiza zmiennych genetycznych została dokonana testem Chi-kwadrat.WYNIKI: W przypadku polimorfizmu genów związanych z metabolizmem żelaza istotne statystycznie różnice pomiędzy badanymi grupami wykazano jedynie w przypadku genu haptoglobiny Hp1/2. Stwierdzono częstsze występowanie formy 1/1 w grupie chorych na POChP i częstsze występowanie formy 1/2 w grupie chorych na raka płuca i POChP. Analiza polimorfizmu genów enzymów proteolitycznych i genu inhibitora tych enzymów wykazała istotne statystycznie różnice pomiędzy badanymi grupami jedynie w przypadku genu metaloproteinazy MMP3 6A/5A. W przypadku polimorfizmu genu metaloproteinazy MMP12 (A-82G) różnice w występowaniu poszczególnych alleli określono na poziomie tendencji.WNIOSKI: Wyniki te wskazują, że u chorych z koincydencją POChP i raka płuca występowały różnice w stosunku do grupy chorych na POChP dotyczące genów związanych z metabolizmem żelaza oraz genów enzymów proteolitycznych.INTRODUCTION: Recent studies have shown an increased risk of lung cancer in patients with bronchial obstructive changes, including patients with COPD. It seems that there are common factors of pathogenesis of both diseases associated with oxidative stress. In the present paper the genes linked to the repair of oxidative damage of DNA, associated with cancer, of iron metabolism and coding proteolytic enzymes were assessed.MATERIAL AND METHODS: The study was conducted in two groups of patients: 53 patients with non-small cell lung cancer and chronic obstructive pulmonary disease, and 54 patients only with chronic obstructive pulmonary disease. The polymorphisms of the single nucleotide were determined in the case of the majority of genes using the PCR-RFLP method. The statistical analysis of quantitative variables was executed using the Mann-Withney U-test and the test of medians; the analysis of genetic variables was executed using the chi² test.RESULTS: Regarding the polymorphisms of genes involved in iron metabolism, statistically significant differences between the two groups have been demonstrated only in the case of haptoglobin gene HP1/2. A higher incidence of form 1/1 was found in patients with COPD and a higher incidence of form 1/2 in patients with lung cancer and COPD. Analysis of gene polymorphisms of proteolytic enzymes and inhibitors of the enzyme gene showed statistically significant differences between the two groups only for the MMP3 gene 6A/5A. In the case of the MMP12 gene polymorphism (A-82G) a tendency toward differences in the occurrence of specific alleles was identified.CONCLUSIONS: These results indicate that patients with coincidence of COPD and lung cancer have disorders of the genes involved in iron metabolism, and they have different genetic polymorphisms of proteolytic enzymes comparing to COPD patients

Is there a common cause for paediatric Cushing’s disease?

Introduction: According to recent literature, somatic mutations in the ubiquitin-specific protease 8 (USP8) gene are the most common changes in patients with Cushing’s disease (CD). Data on the frequency of these mutations in the paediatric population are limited. The aim of the presented study was to determine the frequency of the USP8 gene mutations in a group of paediatric patients with CD treated at the Children’s Memorial Health Institute (CMHI). Material and methods: Eighteen patients (nine females) with CD were treated at CMHI, Warsaw, Poland between 1993 and 2019. All patients underwent transsphenoidal surgery (TSS) as a primary treatment for CD. The average age of all patients at TSS was 13.10 years (5.42–17.25). DNA was extracted from formalin-fixed paraffin-embedded resected tumour tissue. Sanger sequencing was performed on DNA sequence corresponding to the exon 14 of USP8 gene. Results: The mean age at diagnosis of CD was 13.08 years, and the average duration of symptoms before diagnosis was 2.96 years. All patients were operated at CMHI by the same neurosurgeon. Fifteen out of 18 patients (83.33%) had initial biochemical remission after a single TSS procedure (post-operative serum cortisol < 1.8 μg/dL). The result of genetic testing was negative for all samples at the hotspot area of the USP8 gene. Conclusion: The current retrospective study demonstrates that mutations in the USP8 gene may not be as common a cause of paediatric Cushing’s disease, as previously reported

Matrix metalloproteinase 3 polymorphisms as a potential marker of enhanced susceptibility to lung cancer in chronic obstructive pulmonary disease subjects

[b]Introduction and objective[/b]. Chronic obstructive pulmonary disease (COPD) is often accompanied by lung cancer. Among the genes that may play a role in the occurrence of COPD and lung cancer are those encoding the proteolytic enzymes, such as matrix metalloproteinases (MMPs) and their tissue inhibitors. The objective of this study was to find MMPs-associated markers useful in the identification of COPD subjects with increased susceptibility to developing lung cancer. [b]Materials and methods[/b]. We compared the frequency of single nucleotide polymorphisms in genes coding for matrix proteinases ([i]MMP1, MMP2, MMP3, MMP9, MMP12[/i]) as well as tissue inhibitor of metalloproteinases ([i]TIMP1[/i]) in two groups of subjects: COPD patients (54 subjects) and COPD patients diagnosed for lung cancer occurrence (53 subjects).The levels of the respective proteins in blood serum were also analyzed. [b]Results[/b]. The frequencies of 2 genotypes, [i]MMP3[/i] rs3025058 and MMP3 rs678815, were significantly different between the studied groups. In both cases, more heterozygotes and less homozygotes (both types) were observed in the COPD group than in the COPD + cancer group. A significantly higher TIMP1 level in blood serum was observed in the COPD + cancer group than in the COPD group. There were no statistically significant differences in[i] MMPs[/i] blood levels between the studied groups. In addition, no genotype-associated differences in [i]TIMP1[/i] or[i] MMPs[/i] blood levels were observed. [b]Conclusions[/b]. Homozygocity for [i]MMP3[/i] rs3025058 and rs678815 polymorphisms is a potential marker of enhanced susceptibility to lung cancer development among COPD subjects