Miopatia nemalinowa u noworodka – opis rzadkiej choroby

Nemaline myopathy (NM) is a genetically and clinically heterogeneous muscle disorder, defined by the presence of characteristic nemaline bodies on muscle biopsy. The disease has a wide spectrum of phenotypes, ranging from forms with neonatal onset and fatal outcome to asymptomatic forms. The neonatal form is severe and usually fatal. The clinical variability, with differing age of onset and severity of symptoms makes the diagnosis difficult during infancy. There is no curative treatment. L-tyrosine may prevent aspiration by reducing pharyngeal secretions and drooling. Most of the patients die from respiratory and cardiac failure. This article discusses a newborn infant who presented with generalized weakness and respiratory failure. Partial response to L-tyrosine treatment was noted. The case is worth presenting to remind clinicians of congenital myopathies in the differential diagnosis of floppy infant during neonatal period and to emphasize the importance of muscle biopsy in diagnosis.Miopatia nemalinowa jest schorzeniem mięśni, niejednorodnym pod względem genetycznym i klinicznym. Chorobę cechuje obecność charakterystycznych struktur nemalino-wych w bioptacie mięśnia. Fenotyp jest bardzo zróżnicowany i obejmuje zarówno postacie noworodkowe prowadzące do zgonu, jak i postacie bezobjawowe. Postać noworodkowa przebiega ciężko i zwykle kończy się śmiercią. Zmienność kliniczna, łącznie ze zróżnicowanym wiekiem w chwili wystąpienia objawów i z różnym ich nasileniem, może utrudniać rozpoznanie w wieku niemowlęcym. Choroba jest nieuleczalna. Podawanie L-tyrozyny może zapobiec zachłyśnięciu poprzez zmniejszenie produkcji wydzieliny w gardle i śliny. Większość chorych umiera z powodu niewydolności oddechowej i krążenia. W artykule omówiono przypadek noworodka z uogólnionym niedowładem i niewydolnością oddechową. Reakcja na podawanie L-tyrozyny była częściowa. Przedstawiony opis przypadku ma na celu przypomnienie klinicystom o miopatiach wrodzonych, które należy uwzględniać w rozpoznaniu różnicowym zespołu wiotkiego dziecka w okresie noworodkowym, oraz podkreślenie znaczenia biopsji mięśnia w ustalaniu rozpoznania

A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism

Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton. It is caused by functionally defective osteoclasts which fail to resorb bone. Affected infants can exhibit a wide spectrum of clinical manifestations including impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia. With the exception of secondary hyperparathyroidism, involvement of the endocrine system seems to be quite rare. Hypopituitarism is defined as underproduction of the growth hormone in combination with deficiencies of other pituitary hormones. Any lesion that damages hypothalamus, pituitary stalk, or anterior pituitary can cause secondary hypopituitarism. In this report, we presented a rare combination of malignant infantile osteopetrosis and secondary hypopituitarism in a newborn who presented predominantly with endocrinological symptoms. This is the first case report of malignant infantile osteopetrosis accompanied by hypopituitarism secondary to sclerosis of the sella turcica. On the other hand, this is a very interesting case which was diagnosed based on histological examination of bone marrow biopsy specimens despite lack of any clinical suspicion

Ekspresja caveoliny-1 w tkance okołoguzowej jest związana ze stopniem zróżnicowania histopatologicznego w surowiczych guzach jajnika

Background: Previous studies have demonstrated that Caveolin-1 (Cav-1) can ambiguously behave as tumor suppressor or tumor promoter in different neoplasms, depending on cancer type. Some findings have also revealed that cell proliferation, migration and invasion were attenuated by the knockdown of Caveolin-1 expressions. However, the functional and prognostic significance of Caveolin-1 in most tumors remains to be fully elucidated. Objectives: The aim of the study was to investigate a possible association between tissue Caveolin-1 expression and the clinicopathologic features of ovarian serous tumors. Material and methods: Caveolin-1 expression was studied in a total of 82 formalin-fixed, paraffin-embedded specimens of ovarian serous tumors and its association with different clinicopathologic parameters was evaluated. Results: The study included 36 (43.9%) benign, 12 (14.6%) borderline and 34 (41.5%) malignant serous tumors. Mean patient age was 43.9±14.4 years (17-72 years). Statistical analysis revealed that if the tumor becomes more aggressive and invasive, it losses the stromal Caveolin-1 expression (p=0.001). Also, parallel changes between stromal and perivascular Caveolin-1 expressions were observed. Conclusions: Our findings demonstrated a link between Caveolin-1 expression and the aggressiveness of ovarian cancer. Therefore, it seems safe to suggest that Cav-1 may act as a differential diagnostic biomarker in ovarian serous tumors.Wstęp: Wcześniejsze badania wykazały, że Caveolina-1 (Cav-1) może zachowywać się niejednoznacznie w zależności od rodzaju nowotworu, jako jego supresor lub promotor. Niektóre badania pokazały, że proliferacja komórek, migracja i inwazja były osłabiane przez obniżoną ekspresję Caveoliny-1. Jakkolwiek czynnościowe i prognostyczne znaczenie Caveoliny-1 w wielu guzach pozostaje w pełni do wyjaśnienia. Cel pracy: Celem badania była ocena możliwych związków pomiędzy ekspresją Caveoliny-1 i cechami klinicznopatologicznymi surowiczych guzów jajnika. Materiał i metoda: Ekspresję Caveoliny-1 oceniono w 82 tkankach surowiczych guzów jajnika utrwalonych w formalinie i zatopionych w parafinie i skorelowano z różnymi cechami kliniczno-patologicznymi. Wyniki: Do badania włączono 36 (43,9%) niezłośliwych, 12 (14,6%) granicznych i 34 (41,5%) złośliwych guzów surowiczych. Średnia wieku wynosiła 43,9±14,4 lat (17-72 lata). Analiza statystyczna wykazała, że im bardziej agresywny i inwazyjny był guz, tym bardziej tracił ekspresje Caveoliny-1 (p=0,001). Równolegle obserwowano zmiany ekspresji Caveoliny-1 w tkance łącznej i okołonaczyniowej. Wnioski: Nasze badania pokazują związek pomiędzy ekspresją Caveoliny-1 i złośliwością raka jajnika. Wydaje się, że Caveolina-1 może pełnić rolę biomarkera w diagnostyce różnicowej surowiczych guzów jajnika

Tissue expression of human epididymal secretory protein 4 may be useful in the differential diagnosis of uterine cervical tumors

Objectives: Human Epididymal Secretory Protein 4 was firstly described as an epididymis-specific protein but more recently it has been demonstrated to be a putative serum tumor marker for different malignancies, especially ovarian epithelial cancers. The aim of this study is to investigate the association between tissue Human Epididymal Secretory Protein 4 expression and the clinicopathological features of uterine cervical tumors. Material and methods: This retrospective study was designed to evaluate the differences of tissue expressions of Human Epididymal Secretory Protein 4 protein in a spectrum of cervical neoplasms. One hundred and seven patients recently diagnosed as having cervical intraepithelial neoplasm or invasive squamous cell carcinoma, adenosquamous carcinoma and adenocarcinoma based on pathology databases. Results: Decreased or negative Human Epididymal Secretory Protein 4 expressions were determined in both normal cervical epithelia and in intraepithelial carcinomas, while increased HE4 expression was observed in invasive tumors. Conclusions: This study demonstrated that altered expression of Human Epididymal Secretory Protein 4 may involve in tumorigenesis in the uterine cervix. Our findings also suggested the presence of a correlation between Human Epididymal Secretory Protein 4 expression and the invasive potential of uterine tumors. Therefore it may be thought that the tissue expression of HE4 can be used to differentiate high grade intraepithelial tumors from carcinomas

Prognostic impact of BCL2, BCL6 and MYC status in de novo diffuse large B-cell lymphoma: a regional study of 43 patients

Background: Diffuse large B-cell lymphoma (DLBCL) is an aggressive non-Hodgkin lymphoma with marked biologic heterogeneity. We aimed to evaluate the status of MYC, BCL2, BCL6 in patients with DLBCL.Methods: Herein, we have investigated the prognostic relevance of MYC, BCL2 and BCL6 from 43 de novo DLBCL patients.Results: In this study, protein overexpression of BCL2 and BCL6 was encountered in 46.5% (n=20) and 27.9% (n=12) of the tumors, respectively.  Rearrangements in MYC, BCL6, and BCL2 were detected in 9.3% (n=4), 25.6% (n=11), and 4.7% (n=2) of the cases, respectively. Any statistically significant difference could not be found between Bcl-2, Bcl-6 expression, C-MYC rearrangement and the survival.Conclusions: We concluded that C-MYC and BCL2 may contribute to aggressive transformation, so more mechanism-based therapy should be explored. A larger study is warranted to better understand the immunophenotypic and molecular features of DLBCL and their respective impact on patient survival

Tissue Expression of ETS-Related Gene in Gastric Carcinomas

INTRODUCTION: The ETS-related gene (ERG) encodes a member of the erythroblast transformation-specific (ETS) transcription factor family that has been implicated in both tumor invasion and neovascularization. In this retrospective study, we have aimed to investigate the clinical significance of ERG tissue expressions in gastric cancer. METHODS: We examined the expression of ERG protein by immunohistochemical staining in tissue specimens harvested from 172 primary gastric cancer cases. RESULTS: ERG was expressed in normal vascular endothelium. ERG staining was defined as positive in 9.9 % (17 /172) of gastric cancer cases. According to clinicopathological characteristics, statistically significant differences were not observed between ERG expression and tumor invasion, lymph node and distant metastases, increased tumor stage, histological lymphatic and neural invasion. There were no significant differences in age, gender, or histopathological grading as for ERG expression. DISCUSSION AND CONCLUSION: ERT expression in gastric cancers is not correlated with histological prognostic indicators

Evaluation of the Relationship of PD-L1 and FOXP3 Expressions With Clinicopathological Parameters in Gastric Carcinomas

Objective: At the time of diagnosis, gastric cancers are generally at an advanced stage and the survival rates are very low. The aim of this study is to determine the prognostic values of PD-L1 expression in gastric carcinomas and to detect the presence of FOXP3- positive Treg cells in tumor microenviroment. Method: In this study, PD-L1 and FOXP3 expressions were evaluated in 125 patients with gastric carcinoma who had undergone gastrectomy between 2011, and 2015. Results: The mean age of the patients was 64.18+-12.3 years and the patients were followed up for a mean period of 29.6+-26.4 months. In only 2 (1.6%) cases there were weak membranous expressions of PD-L1 in tumor cells. PD-L1- positive inflammatory cells were also seen in tumors of 2 (1.6%) cases. There was no significant relationship between PD-L1 expression and survival times (p= 0.690). In 57(45.6%) cases, FOXP3- positive lymphocytes were detected. The number of FOXP3-positive cells ranged between 1 and 55/HPF. There was no statistically significant correlation between the survival times and presence of Tregs (p=0.793). Twenty-two cases (17.6%) were evaluated as HER2-positive. There was a statistical relationship between HER2-positivity and perineural invasion (p=0.006). Statistical significance between survival and some prognostic factors such as nodal metastasis (p=0.004), pT stage (p<0.01) and presence of perineural invasion (p=0.010) was determined. Conclusion: This study has demonstrated that the PD-L1 positivity was not effective on gastric tumorigenesis. We have found a positive correlation between the presence of Treg inflammatory cells and PD-L1 expression. But this relationship could not be proved by statistical analyses. However since PD-L1 expression was detected in only 4 cases, these findings should be confirmed in larger series

ANÁLISE DO PRAZO DE EXECUÇÃO DE DOIS EMPREENDIMENTOS IMOBILIÁRIOS NO RIO DE JANEIRO

A competição no mercado imobiliário exige que as empresas aprimorem os processos de gerenciamento e controle das obras. Este trabalho consta de uma pesquisa bibliográfica sobre gerenciamento de projetos e do estudo de caso considerando a análise dos prazos de execução de dois empreendimentos imobiliários. Com a elaboração de gráficos a partir dos dados levantados, foi possível comparar os prazos previstos e os realizados. Constatou-se que, mesmo dispondo de ferramentas de controle, as informações precisam ser compartilhadas entre os setores da empresa, de forma a evitar e repetição de erros

Is the Curative Thoracic Radiotherapy Benefit and Cost-Effective in Extensive Stage Small Cell Lung Cancer?

Lung cancer is the most common cause of cancer-related death and small cell lung cancer (SCLC) comprises about 15-20 % of all lung cancer cases. Majority of patients present with metastatic disease at diagnosis. Therapy regimens of SCLC include systemic chemotherapy, irradiation of primary tumor and/or metastases, adjuvant and prophylactic cranial radiotherapy, as well as medication of pain or other symptoms. Treatment is primarily dependent on the stage of SCLC and presence of metastases. Chemotherapy still is the cornerstone in treatment. The standard chemotherapy is the combination of etoposide and cisplatin. Despite initial sensitivity to therapy, >80% of the patients die from recurrent disease within 2 years