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1.
Scand J Gastroenterol ; 55(1): 62-66, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31852320

RESUMO

Objectives: Gastric cancer (GC) in young patients is a troubling clinical problem. The aim of this study was to analyze whether patients ≤40 years of age with GC differ from patients (age >40 years) in terms of clinicopathological and selected genetic factors.Materials and methods: Between 1984 and 2011, data were collected for 840 GC patients diagnosed and treated for GC at the Department of Gastroenterology at Pomeranian Medical University. The following clinicopathological features were compared between two age groups: sex, symptom duration, family history of cancer, tumor site, stage (early vs. advanced), blood group, histology, Helicobacter pylori infection and BRCA2 C572T silent mutation status.Results: A total of 65 (7.7%) patients were age 40 years or younger. GC was predominant in women in the younger group (p < .001). Patients (≤40 years) more frequently reported a positive family history of cancer (p = .01) and a diffuse tumor type was more common in this group (p < .001). The two age groups did not differ significantly regarding symptom duration, tumor location or stage, H. pylori infection, blood group, or BRCA2 C572T silent mutation status. A comparison of male and female patients aged 40 years or less did not reveal sex-based differences in any analyzed features.Conclusion: Patients ≤40 years of age with GC differ from patient >40 years of age in having a predominance of women, diffuse tumor type, and positive family history of cancer. These results offer openings for further investigation of the relevance of these differences.


Assuntos
Infecções por Helicobacter/complicações , Neoplasias Gástricas/diagnóstico , Sistema ABO de Grupos Sanguíneos , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Proteína BRCA2/genética , Feminino , Infecções por Helicobacter/diagnóstico , Infecções por Helicobacter/epidemiologia , Helicobacter pylori , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Estadiamento de Neoplasias , Polônia , Estudos Retrospectivos , Fatores de Risco , Neoplasias Gástricas/epidemiologia , Neoplasias Gástricas/genética , Adulto Jovem
2.
Pol J Pathol ; 68(1): 11-15, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28547975

RESUMO

The aim of this study was to assess the: 1) clinicopathologic features of papillary early gastric cancer (PEGC) (13 cases) compared to tubular early gastric cancer (TEGC) (41 cases); 2) efficiency of endoscopic submucosal dissection (ESD) in treatment of PEGC. From January 2007 to February 2016, a total of 54 consecutive patients with early gastric cancer (EGC) underwent ESD at the Department of Gastroenterology of the Pomeranian Medical University in Poland. The histologic type of carcinoma was assessed according to the WHO histological classification of GC. The extension of GC into the submucosa was measured using the Aperio Scan Scope image analysis system tools. PEGCs were diagnosed in 24.1% of the cases of EGC. PEGCs were significantly more elevated in macroscopic examination and better demarcated tumors than TEGC. There were no significant differences between gender, tumor location, ulceration, tumor size, depth of invasion (T), presence of intestinal metaplasia and lymphocytic infiltrate. Curative resection was achieved in 87.1% of patients with EGCs treated with ESD. The lower rate of curative resection (R0) observed in PEGC (76.9%) vs TEGC (90.2%) was not statistically significant. Further studies will be necessary to confirm the clinical and morphological presentation of PEGCs.


Assuntos
Adenocarcinoma/patologia , Neoplasias Gástricas/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Ressecção Endoscópica de Mucosa , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
3.
Scand J Gastroenterol ; 51(12): 1495-1501, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27686105

RESUMO

OBJECTIVE: Early gastric cancer (EGC) is defined as cancer invasion confined to the mucosa or submucosa, irrespective of lymph node metastasis. Recently endoscopic submucosal dissection (ESD) has been widely accepted for the treatment for dysplasia and EGC without lymph node metastases. While the method has been advanced in Far East countries, ESD is still being developed in Europe and has not gained enough popularity although it has been recommended as the treatment of choice for superficial gastric neoplastic lesions by European Society of Gastrointestinal Endoscopy (ESGE) in 2015. METHODS: The aim of the study was to perform a retrospective analysis of clinical and histomorphologic features of 58 cases of EGCs removed by ESD in a university hospital in Western Pomerania in Poland and to evaluate factors related to the efficiency of ESD resection. RESULTS: With univariate analysis, indications for ESD with the highest R0 rate were found in EGCs limited to mucosa (T1a, small mucosal, M), without muscularis mucosa invasion, localised in the middle/lower part of stomach and intestinal type in histological examination. The R0 complete resection rate was significantly (p < 0.0001) lower for T1b than that for T1a tumours (21.4% vs. 100%). Tumours with submucosal involvement were associated with lower efficiency of ESD procedure. CONCLUSIONS: Our data showed that in EGCs with favourable histomorphologic characteristics, ESD seemed to be a totally efficient and safe method of treatment in a European small-volume centre. R0 resection rate reached 81.1% of cases and median time of the ESD procedure was 61.5 min.


Assuntos
Adenocarcinoma/patologia , Adenocarcinoma/cirurgia , Ressecção Endoscópica de Mucosa/métodos , Neoplasias Gástricas/patologia , Neoplasias Gástricas/cirurgia , Idoso , Idoso de 80 Anos ou mais , Dissecação/métodos , Ressecção Endoscópica de Mucosa/efeitos adversos , Feminino , Mucosa Gástrica/patologia , Humanos , Metástase Linfática/patologia , Pessoa de Meia-Idade , Polônia , Estudos Retrospectivos
4.
Med Sci Monit ; 22: 2886-92, 2016 Aug 16.
Artigo em Inglês | MEDLINE | ID: mdl-27527654

RESUMO

BACKGROUND Mutations in DNA of mismatch repair (MMR) genes result in failure to repair errors that occur during DNA replication in microsatellites, resulting in accumulation of frameshift mutations in these genes and leading to DNA mismatch replication errors and microsatellite instability. Gastric cancers (GCs) with high MSI (MSI-H) are a well-defined subset of carcinomas showing distinctive clinicopathological features. In this study we investigated the rate of MSI and the correlation between MSI status and clinicopathological features of GC. MATERIAL AND METHODS The study included 107 patients with GCs: 61 with advanced gastric cancers (AGC) and 46 with early gastric cancer (EGC). MSI deficiency in GCs was assessed by the immunohistochemical analysis of expression of MMR proteins - MLH1, MSH2, MSH6, and PMS2 - using formalin-fixed and paraffin-embedded tissue. RESULTS A total of 6 (5.6%) MSI-H were observed. The loss of MMR proteins expression was associated with the intestinal type of GC in Lauren classification, and tubular and papillary architecture in WHO classification. There was no statistically significant association between negative MMR expression and other selected clinical parameters: age, sex, tumor location, depth of invasion (EGC and AGC), lymph nodes status, presence of the ulceration, and lymphocytic infiltrate. CONCLUSIONS In the present era of personalized medicine, the histological type of GC and MMR proteins status in cancer cells are very important for the proper surveillance of patients with familial GC and sporadic GCs, as well as for selecting the proper follow-up and treatment. Larger collaborative studies are needed to verify the features of MSI-H GCs in Poland.


Assuntos
Reparo de Erro de Pareamento de DNA , Instabilidade de Microssatélites , Neoplasias Gástricas/genética , Idoso , Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/metabolismo , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Endonuclease PMS2 de Reparo de Erro de Pareamento/genética , Endonuclease PMS2 de Reparo de Erro de Pareamento/metabolismo , Proteína 1 Homóloga a MutL/genética , Proteína 1 Homóloga a MutL/metabolismo , Proteína 2 Homóloga a MutS/genética , Proteína 2 Homóloga a MutS/metabolismo , Polônia , Neoplasias Gástricas/metabolismo , Transcriptoma/genética
5.
Artigo em Inglês | MEDLINE | ID: mdl-26779294

RESUMO

BACKGROUND: Gastric cancer (GC) is part of the spectrum of diseases linked to BRCA1 and BRCA2 mutations that increase the risk of breast and ovarian cancer. Data suggesting an increased risk of developing GC among BRCA1 and BRCA2 mutation carriers are based almost exclusively on indirect studies. The objective was to assess in a direct study whether there is a relationship between GC and selected recurrent BRCA1 and BRCA2 mutations in the Polish population. METHODS: Three hundred seventeen GC patients (193 males and 124 females; mean age 59.5 ± 12.8 y) diagnosed at the Department of Gastroenterology at the Pomeranian Medical University were included in this retrospective study. All patients were genotyped for 3 BRCA1 Polish founder mutations (5382insC, C61G and 4153delA) as well as for 9 known recurrent mutations in BRCA1 and BRCA2 genes. Genotyping was performed using allele-specific oligonucleotide polymerase chain reaction (ASA-PCR) for 4153delA and 5382insC, restriction fragment length polymorphism (PCR-RFLP) for C61G and TaqMan real-time PCR for 185delAG, 3819del5, 3875del4, 5370C > T, 886delGT, 4075delGT, 5467insT, 6174delT and 8138del5. RESULTS: Among tested mutations one founder BRCA1 mutation 5382insC was detected in two of 317 (0.63 %) GC cases. A comparison of frequency of detected BRCA1 founder mutations in GC patients to previously described 4570 Polish controls (0.63 % vs. 0.48 %) failed to indicate an increased risk of GC in the mutation carriers (OR = 1.3; 95 % CI 0.3-5.6, p = 0.71). A comparison of frequency of GC male cases and male controls (1.0 % vs. 0.43 %,OR = 1.5; 95 % CI 0.3-6.4, p = 0.61) allowed to formulate the same conclusion that there is no increased risk for GC for males. None of the 9 recurrent BRCA1 and BRCA2 mutations has been detected in tested GC patients. CONCLUSION: The current study indicates that founder BRCA1 mutations reported in Polish breast/ovarian cancer patients do not contribute to increased GC risk. The nine tested recurrent BRCA1 and BRCA2 mutations were not detected in GC patients which may suggests that they are rare in GC patients in the Polish population. Further analyses, including sequencing of entire sequences of BRCA1 and BRCA2 genes, are necessary to ultimately determine the role of these two genes in GC in Poland.

6.
Gastrointest Endosc ; 75(2): 276-86, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22032850

RESUMO

BACKGROUND: Endoscopic submucosal dissection (ESD) is a well-accepted method for removing superficial mucosal tumors; however, there is limited data on the use of this method for removing subepithelial tumors. OBJECTIVE: To investigate the efficacy, safety, and outcome of ESD for gastric subepithelial tumors and determine factors related to treatment success. DESIGN: Retrospective analysis of a prospectively maintained database. SETTING: Single tertiary academic center. PATIENTS AND INTERVENTIONS: From April 2007 to November 2010, 37 patients with gastric subepithelial tumors were treated with ESD. MAIN OUTCOME MEASUREMENTS: Macroscopically and microscopically complete en block resection rate (R0), complication rate, and endosonographic features predictive of R0 resection. RESULTS: The median tumor diameter was 25.0 mm, (range 10-60 mm, IQR 17-37). The overall rate of R0 resections was 81.1% (30/37, 95%CI: 61.8-90.2%), including 100% (15/15, 95%CI: 78.2-100.0%) of tumors from the submucosa and 68.2% (15/22, 95%CI: 45.1-86.1%) of tumors from the muscularis propria. Seventeen patients had a final diagnosis of gastrointestinal stromal tumor. The severe complication (perforation) rate was 5.4% (2/37, 95%CI: 0.0-9.5%). One patient required surgery; the other was treated conservatively. No recurrence was observed in patients with R0 resections at a median follow up of 21.0 months (IQR 11-35). Successful R0 resections were predicted by the observation of no, or only narrow, tumor connections with the underlying muscle layer during EUS (OR=35.0, 95%CI: 3.7-334.4, p=0.001). LIMITATIONS: Single-center, retrospective analysis, short follow-up. CONCLUSIONS: ESD is an effective and relatively safe method for removing gastric subepithelial tumors. Endoscopic ultrasonography findings can predict complete tumor resections.


Assuntos
Dissecação/métodos , Mucosa Gástrica/cirurgia , Tumores do Estroma Gastrointestinal/diagnóstico por imagem , Tumores do Estroma Gastrointestinal/cirurgia , Neoplasias Gástricas/diagnóstico por imagem , Neoplasias Gástricas/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Dissecação/efeitos adversos , Endossonografia , Feminino , Tumores do Estroma Gastrointestinal/patologia , Gastroscopia , Humanos , Masculino , Pessoa de Meia-Idade , Pneumoperitônio/etiologia , Estudos Retrospectivos , Neoplasias Gástricas/patologia
7.
Hepatogastroenterology ; 59(118): 1879-82, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22819909

RESUMO

BACKGROUND/AIMS: Budd-Chiari syndrome (BCS) is recognized as a clinical manifestation of various prothrombotic conditions which may be lethal within 3 years of the onset of symptoms if untreated. This study is a retrospective analysis of patients with BCS managed between 2004 and 2011. METHODOLOGY: The diagnosis was confirmed with contrast CT-angiography and/or Doppler ultrasound. RESULTS: BCS was diagnosed in 20 patients (11 females and 9 males), median age 38 years (ranging from 18 to 56). Twelve patients were referred as acute BCS for the liver transplant (LTx) assessment. Thrombosis of the hepatic veins was caused by myeloproliferative disorders (n=8), end-stage liver disease (n=4), protein C deficiency (n=3), paroxysmal nocturnal hemoglobinuria (PNH) (n=1), antiphospholipid syndrome (n=1) and secondary poliglobulia (n=1). In two patients the origin of BCS could not be established despite appropriate screening. Median follow-up was 29 months. Low molecular heparin with subsequent conversion to vitamin K antagonists was routinely applied in all patients. Two patients underwent TIPS procedure with good long term outcome and 10 subjects received LTx; 1 patient was lost to follow-up and 1 died of chest infection 9 years since the diagnosis of BCS was made; 14 patients, including those who received LTx, were alive and well at least one year after BCS diagnosis. All survivors remain stable and are followed-up on a regular basis. CONCLUSIONS: Strict adherence to the diagnostic and therapeutic guidelines plays a crucial role in the management of BCS patients. Our results confirm the efficacy of anticoagulation as well as TIPS and/or OLT in treatment of this rare condition.


Assuntos
Anticoagulantes/administração & dosagem , Síndrome de Budd-Chiari/terapia , Transplante de Fígado , Derivação Portossistêmica Transjugular Intra-Hepática , Adolescente , Adulto , Síndrome de Budd-Chiari/diagnóstico , Síndrome de Budd-Chiari/etiologia , Síndrome de Budd-Chiari/mortalidade , Substituição de Medicamentos , Feminino , Fidelidade a Diretrizes , Heparina de Baixo Peso Molecular/administração & dosagem , Humanos , Transplante de Fígado/efeitos adversos , Transplante de Fígado/mortalidade , Masculino , Pessoa de Meia-Idade , Polônia , Derivação Portossistêmica Transjugular Intra-Hepática/efeitos adversos , Derivação Portossistêmica Transjugular Intra-Hepática/mortalidade , Guias de Prática Clínica como Assunto , Valor Preditivo dos Testes , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Ultrassonografia Doppler , Vitamina K/antagonistas & inibidores , Adulto Jovem
8.
Pol Merkur Lekarski ; 32(188): 103-7, 2012 Feb.
Artigo em Polonês | MEDLINE | ID: mdl-22590913

RESUMO

UNLABELLED: Despite some advances in the oncological managament, pancreatic cancer remains a clinical problem and has remained leading cause of cancer deaths. The association between Helicobacter pylori (H. pylori) infection and pancreatic was suggested, but the issue remains of contentious. The aim of the study was to determine the relationship between H. pylori infection and pancreatic cancer development on a sample of Polish population. MATERIAL AND METHODS: 139 patients with pancreatic cancer and 177 controls were included in the study. Seropositivity for H. pylori, including CagA protein were assessed by the enzyme-linked immunosorbent assay and Western blot, respectively. The frequency of H. pylori in pancreatic cancer patients and controls were compared adjusted for age, sex, cigarette smoking and a family history of cancer in the logistic regresion model. RESULTS: No significant differences between pancreatic cancer patients and controls were seen according to H. pylori seropositivity (87.1 vs 82.5%; OR = 1.27; CI95%: 0.64-2.61; p = 0.514) and CagA seropositivity (83.5 vs 84.9%; OR = 0.90; CI95%: 0.46-1.73; p = 0.744). CONCLUSIONS: The study didn't support previous observations of H. pylori infection as a plausible pathogenic risk factor for pancreatic cancer development. The high prevalence of infection in the control group may explain why the earlier reports of a positive association between H. pylori infection and pancreatic cancer could not be confirmed in the study.


Assuntos
Infecções por Helicobacter/epidemiologia , Helicobacter pylori , Neoplasias Pancreáticas/epidemiologia , Neoplasias Pancreáticas/microbiologia , Adulto , Idoso , Estudos de Casos e Controles , Comorbidade , Feminino , Infecções por Helicobacter/diagnóstico , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Polônia/epidemiologia , Testes Sorológicos
9.
Immunopharmacol Immunotoxicol ; 33(2): 398-402, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20726808

RESUMO

Nodular regenerative liver hyperplasia (NRH) is a very rare but potentially severe complication of thiopurine-containing immunosuppressive therapy for autoimmune disorders, organ transplantation, and/or oncological treatment. Here we report a case of a 40-year-old female patient with Crohn's disease and genetic hypercoagulability disorder-factor V Leiden, who in the course of azathioprine immunosuppressive treatment for inflammatory bowel disease developed NRH, which was clinically manifested by thrombocytopenia and delicate hepato-splenomegaly. Moreover, her endoscopic examination of upper gastrointestinal tract demonstrated esophageal varices. Genetic analysis revealed heterozygous genotype (*1/*3A) of thiopurine S-methyltransferase (TPMT), a key enzyme of thiopurines' metabolism, which results in lower activity of TPMT enzyme, thereby making our patient more susceptible to azathioprine-related hepato and myelotoxicity development. Treatment was started with the immediate cessation of azathioprine therapy, and administration of propranolol as primary prophylaxis for bleeding from esophageal varices. Currently (3 years after diagnosis) remission of Crohn's disease is achieved, however, progression of features of portal hypertension is observed. Propranolol administration is continued and the patient is constantly monitored in our Department. Our Case Study highlights the clinical difficulties and challenges associated with diagnosing of azathioprine-induced NRH, as well as, supports previous observations that hypercoagulability disorders and abnormal TPMT activity may contribute to NRH development.


Assuntos
Azatioprina/efeitos adversos , Doença Hepática Induzida por Substâncias e Drogas/patologia , Doença de Crohn/tratamento farmacológico , Doença de Crohn/patologia , Imunossupressores/efeitos adversos , Regeneração Hepática/efeitos dos fármacos , Adulto , Doença Hepática Induzida por Substâncias e Drogas/imunologia , Doença de Crohn/imunologia , Feminino , Humanos , Hiperplasia , Regeneração Hepática/imunologia , Resultado do Tratamento
10.
BMC Gastroenterol ; 10: 67, 2010 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-20584330

RESUMO

BACKGROUND: Nonalcoholic fatty liver disease (NAFLD) includes a wide spectrum of liver diseases, ranging from pure steatosis to nonalcoholic steatohepatitis (NASH), and eventually to liver cirrhosis with its complications. Identifying advanced fibrosis in patients is crucial to evaluating prognosis and possible therapeutic intervention. A novel, simple, and highly accurate scoring system called BARD, which identifies patients with NAFLD and without significant fibrosis, has been recently introduced and validated in North America..The aim of this study is to validate the BARD scoring system in a Polish cohort with NAFLD. METHODS: A group of 104 Caucasians with biopsy-proven NAFLD were included in this study. Fibrosis in liver biopsies was evaluated according to the Histological Scoring System for Nonalcoholic Fatty Liver Disease. The BARD scoring system was assessed according to Harrison et al.: BMI > or = 28 = 1 point, AST/ALT ratio (AAR) > or = 0.8 = 2 points, type 2 diabetes mellitus = 1 point. RESULTS: Age over 50 and AAR over 0.8 showed, respectively, a moderate and strong association with advanced fibrosis. A BARD score of 2-4 points was associated with F3 or F4 stages of fibrosis with an odds ratio of 17.333 (95% Cl; 3,639 - 82.558) and negative predictive value of 97%. CONCLUSION: Our results demonstrate that the BARD scoring system has value in the non-invasive diagnosis of advanced fibrosis in NAFLD patients. The vast majority of patients with NAFLD would avoid liver biopsy if BARD was broadly introduced into the clinic.


Assuntos
Alanina Transaminase/sangue , Aspartato Aminotransferases/sangue , Índice de Massa Corporal , Diabetes Mellitus Tipo 2/diagnóstico , Fígado Gorduroso/diagnóstico , Índice de Gravidade de Doença , Adulto , Idoso , Biópsia , Glicemia/metabolismo , Estudos de Coortes , Diabetes Mellitus Tipo 2/sangue , Fígado Gorduroso/sangue , Fígado Gorduroso/patologia , Feminino , Humanos , Fígado/patologia , Cirrose Hepática/sangue , Cirrose Hepática/diagnóstico , Cirrose Hepática/patologia , Masculino , Pessoa de Meia-Idade , Polônia , Valor Preditivo dos Testes , Estudos Retrospectivos
11.
Pol Merkur Lekarski ; 29(170): 125-7, 2010 Aug.
Artigo em Polonês | MEDLINE | ID: mdl-20842827

RESUMO

Wilson's disease is caused by a P-type ATP-ase gene mutations with reduced biliary copper excretion and accumulation copper in the liver and other tissues. Clinical symptoms can be heterogeneous but in many cases on the first stage the only abnormalities is elevation of aminotransferase activity. In some cases the first fatal symptom of disease is acute liver failure, therefore early diagnosis and treatment is essential. We present an actual recommendations for diagnosis and treatment of patients with Wilson's disease.


Assuntos
Degeneração Hepatolenticular/diagnóstico , Degeneração Hepatolenticular/terapia , Adenosina Trifosfatases/genética , Proteínas de Transporte de Cátions/genética , Cobre/metabolismo , ATPases Transportadoras de Cobre , Feminino , Degeneração Hepatolenticular/enzimologia , Degeneração Hepatolenticular/genética , Humanos , Falência Hepática Aguda/diagnóstico , Mutação , Gravidez , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/terapia , Transaminases/metabolismo
12.
Pol Merkur Lekarski ; 24(139): 54-8, 2008 Jan.
Artigo em Polonês | MEDLINE | ID: mdl-18634255

RESUMO

Patients with hereditary hemochromatosis (HC) may present a plenty of clinical symptoms, thus are referred to various specialists and may prone a significant diagnostic dillema. The molecular basis of hemochromatosis is more complex than expected. In 1996 HFE gene was identified and its main mutations (C282Y and H63D) were described as well as their high frequency in population of European descent. Them: Most patients with clinical symptoms of hemochromatosis are homozygous for C282Y but it is also clear that some families are linked to rarer conditions, named "non-HFE hemochromatosis". Between 2000-2004 other genes involved in iron homeostasis were intensively studied, leading to recognition of hepcidin (HAMP) - the most important iron hormone, hemojuvelin (HJV), transferin receptor 2 (TfR2) and ferroportin. Recent findings led to novel hypothesis on potential digenic modes of inheritance or the involvement of modifier genes. Hepcidin plays a central role in mobilization of iron, HFE, TfR2 and HJV playing a modulating role in its production, related to the body's iron status. It has also been demonstrated that HAMP negatively regulates cellular iron efflux by affecting the ferroportin cell surface availability. The result of such a wide investigations is OMIM classification of hereditaty hemochromatosis, typing four types of the disease.


Assuntos
Hemocromatose/classificação , Hemocromatose/genética , Adolescente , Adulto , Peptídeos Catiônicos Antimicrobianos/metabolismo , Proteínas de Transporte de Cátions/metabolismo , Criança , Europa (Continente)/epidemiologia , Proteínas Ligadas por GPI , Testes Genéticos , Genética Populacional , Hemocromatose/diagnóstico , Hemocromatose/epidemiologia , Proteína da Hemocromatose , Hepcidinas , Humanos , Ferro/metabolismo , Proteínas de Membrana/genética , Proteínas de Membrana/metabolismo , Mutação , Proteína B de Ligação a Transferrina/metabolismo
13.
Pol Merkur Lekarski ; 24(144): 568-71, 2008 Jun.
Artigo em Polonês | MEDLINE | ID: mdl-18702346

RESUMO

Non-alcoholic fatty liver disease (NAFLD) covers a wide spectrum of liver pathology--from steatosis alone, through the necroinflammatory disorder of non-alcoholic steatohepatitis (NASH) to cirrhosis and liver cancer. NAFLD/NASH is mostly related with visceral adiposity, obesity, type 2 diabetes melitus (DM t.2) and metabolic syndrome. Pathogenetic concepts of NAFLD include overnutrition and underactivity, insulin resistance (IR) and genetic factor. The prevalence of NAFLD has been estimated to be 17-33% in some countries, NASH may be present in about 1/3 of such cases, while 20-25% of NASH cases could progress to cirrhosis. NAFLD is now recognized as one of the most frequent reason of liver tests elevation without clinical symptoms. Insulin resistance is considering as having a central role in NAFLD pathogenesis. In hepatocytes, IR is related to hyperglycaemia and hyperinsulinaemia, formation of advanced glycation end-products, increased free fatty acids and their metabolites, oxidative stress and altered profiles of adipocytokines. Early stages of fatty liver are clinically silent and include elevation of ALT and GGTP, hyperechogenic liver in USG and/or hepatomegaly. Among clinical symptoms, abdominal discomfort is relatively common as well as chronic fatigue. NAFLD/NASH is not a benign disease, progressive liver biopsy have shown histological progression of fibrosis in 32%, the estimated rate of cirrhosis development is 20% and a liver--related death is 12% over 10 years. No treatment has scientifically proved to ameliorate NAFLD or to avoid its progression. The various therapeutic alternatives are aimed at interfering with the risk factors involved in the pathogenesis of the disorder in order to prevent the progression to end-stage liver disease. The most important therapeutic measure is increasing insulin sensitivity by an attempt to change a lifestyle mostly by dieting and physical activity in order to loose weight. The most used agent is metformin, the others are under controlled trials or their effectiveness is low. NASH is not a common indication for liver transplantation because of the older age distribution of patients and high prevalence of comorbidity, related to metabolic syndrome. Recurence of NASH in the grafted liver is also a relatively frequent complication.


Assuntos
Fígado Gorduroso/diagnóstico , Fígado Gorduroso/epidemiologia , Hiperglicemia/epidemiologia , Resistência à Insulina , Biópsia , Causalidade , Comorbidade , Progressão da Doença , Fígado Gorduroso/patologia , Fígado Gorduroso/terapia , Humanos , Fígado/patologia , Cirrose Hepática/epidemiologia , Cirrose Hepática/patologia , Metformina/uso terapêutico , Prevalência , Comportamento de Redução do Risco
14.
Pol Merkur Lekarski ; 25(146): 166-70, 2008 Aug.
Artigo em Polonês | MEDLINE | ID: mdl-18942340

RESUMO

Non-alcoholic steatohepatitis (NASH) is a part of the spectrum of non-alcoholic fatty liver disease (NAFLD), which can progress to hepatic cirrhosis and end-stage liver disease or hepatocellular carcinoma (HCC). Its pathogenesis is associated with insulin resistance (IR) and the metabolic syndrome. Hepatic steatosis has also been considered an early marker of IR. It is now accepted that NASH is a multistep process with a prominent role for IR, where oxidative stress and cytokines retain a central role. Markers for predicting NAFLD with advanced fibrosis are needed. Once considered irreversible, liver fibrosis is now recognized a dynamic process with significant prospects for remission. The liver biopsy is still a gold standard in assessment of liver fibro-inflammatory activity in the injured liver, but has its own limitations: invasiveness, small tissue sample and inter- and intra-observer error. The lack of non-invasive tests limits the ability of monitoring progression of hepatic fibrosis and response to treatment. Therefore, clinical trials focused on finding of new non-invasive diagnostic tools giving possibilities of frequent, more accurate and reproducible assessment of hepatic fibrosis are constantly conducted.


Assuntos
Fígado Gorduroso/diagnóstico , Biomarcadores/metabolismo , Biópsia , Carcinoma Hepatocelular/etiologia , Citocinas/metabolismo , Progressão da Doença , Fígado Gorduroso/complicações , Humanos , Resistência à Insulina , Cirrose Hepática/complicações , Cirrose Hepática/patologia , Neoplasias Hepáticas/etiologia , Síndrome Metabólica/complicações , Estresse Oxidativo
15.
Pol Merkur Lekarski ; 25(146): 150-2, 2008 Aug.
Artigo em Polonês | MEDLINE | ID: mdl-18942335

RESUMO

Thrombophilia in adults is one of main causes of portal vein thrombosis. Esophageal and gastric varices, ascites and hypersplenism are well known complications of portal hypertension. There are controversial issues on the management, especially anticoagulant therapy and surgical treatment of these patients. We present a 42-years old woman with a history of three acute coronary episodes suffering from recurrent variceal bleeding due to portal and splenic vein thrombosis in the course of myeloproliferative disorder and protein C deficiency. It was 10 months delay of diagnosis. She was successfully treated with medical and surgical treatment (esophageal stapler transection, cardial devascularization, and splenectomy). In the paper we discuss complexity of diagnosis and surgical treatment.


Assuntos
Varizes Esofágicas e Gástricas/etiologia , Hemorragia Gastrointestinal/etiologia , Veia Porta , Veia Esplênica , Trombofilia/complicações , Trombose Venosa/complicações , Adulto , Varizes Esofágicas e Gástricas/diagnóstico , Varizes Esofágicas e Gástricas/terapia , Feminino , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/terapia , Humanos , Deficiência de Proteína C/complicações , Recidiva , Trombofilia/diagnóstico , Trombofilia/terapia , Trombose Venosa/diagnóstico , Trombose Venosa/terapia
16.
Pol Merkur Lekarski ; 23(135): 192-5, 2007 Sep.
Artigo em Polonês | MEDLINE | ID: mdl-18080693

RESUMO

UNLABELLED: Mutation of the p53 gene belongs to the most common genetic alteration in human cancer. Prognostic significance of serum anti-p53 antibodies in patients with gastric cancer is still a matter of controversy. The aim of the study was to estimate the presence of anti-p53 antibodies in serum of gastric cancer patients and relationship between anti-p53 antibodies and chosen clinical and pathomorphological data age, sex, localization of cancer, histology, stage of disease, metastases to lymph nodes and the time of survival. MATERIAL AND METHOD: Serum samples from 71 patients with gastric cancer were analyzed by specific enzyme-linked immunosorbent assay (ELISA) to determine the presence of serum anti-p53 antibodies. The results were statistically compared with clinical and pathological features and postoperative survival. RESULTS: Anti-p53 antibodies were detected in 16 (23%) gastric cancer patients. The presence of p53 antibodies was connected with intestinal tumor type (p < 0.05) and older age (p = 0.0035). There were no association between anti-p53 antibodies, stage and the time of survival. CONCLUSION: These results suggest that in gastric cancer patients serum anti-p53 antibodies detected by ELISA are not predictor of prognosis.


Assuntos
Autoanticorpos/sangue , Neoplasias Gástricas/imunologia , Proteína Supressora de Tumor p53/imunologia , Adolescente , Adulto , Idoso , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Valor Preditivo dos Testes , Neoplasias Gástricas/patologia
17.
Histol Histopathol ; 32(2): 193-201, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27240805

RESUMO

The correlation of thymidylate synthase (TS) expression in gastric cancers with tumor histology and prognostic or predictive information remains unclear. Most studies have involved Asian populations, with few conducted in European cohorts. Moreover, all published studies analyze TS expression using semi-quantitative methods. This retrospective study evaluated the association of TS expression in tumor cells with gastric carcinoma histological type, with selected clinicopathological parameters, and with the prognosis of patients who underwent surgical treatment. TS expression was detected using immunochemistry and objectively assessed by computerized image analysis of tumor cells in 100 gastric cancers. We found that high TS expression was significantly more common in intestinal than in diffuse type of gastric cancer according to Lauren classification (P=0.0003); in type I carcinomas compared to type IV according to Goseki classification (P=0.002); and in gastric cancers in men than women (P=0.04). Low TS expression was found more often in carcinomas in the middle and lower third of the stomach than in cancers in the upper third of the stomach (P=0.009 and P=0.001, respectively). In the subgroup of 25 patients without lymph node metastases (stage I+II), high TS expression was associated with better DFS (83% for high TS expression versus 38,5% for low TS expression, P=0.03). The results (1) indicate significant correlation between the Lauren and Goseki histopathological classifications of gastric cancer and TS expression in tumor cells, (2) suggest that high TS expression may be a positive prognostic marker with regard to DFS in patients with gastric cancer without involvement of regional lymph nodes who underwent radical surgical treatment and were not treated with preoperative chemotherapy. Prognostic results need confirmation in larger cohorts.


Assuntos
Carcinoma/metabolismo , Metástase Linfática/patologia , Neoplasias Gástricas/metabolismo , Timidilato Sintase/metabolismo , Adolescente , Adulto , Idoso , Biomarcadores Tumorais/metabolismo , Carcinoma/mortalidade , Carcinoma/patologia , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Neoplasias Gástricas/mortalidade , Neoplasias Gástricas/patologia , Taxa de Sobrevida , Adulto Jovem
18.
Hepat Mon ; 16(3): e34356, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27226801

RESUMO

BACKGROUND: Cardiovascular diseases are a leading cause of morbidity and mortality in solid organ transplant recipients. In addition, low physical activity is a risk factor for cardiac and cerebrovascular complications. OBJECTIVES: This study examined potential relationships between physical activity, health-related quality of life (HRQoL), risk factors for cardiovascular disease, and an exercise test in liver-graft recipients. PATIENTS AND METHODS: A total of 107 participants (62 men/45 women) who had received a liver transplantation (LT) at least 6 months previously were evaluated. Physical activity was assessed using three different questionnaires, while HRQoL was assessed using the medical outcomes study short form (SF)-36 questionnaire, and health behaviors were evaluated using the health behavior inventory (HBI). The exercise test was performed in a standard manner. RESULTS: Seven participants (6.5%) had a positive exercise test, and these individuals were older than those who had a negative exercise test (P = 0.04). A significant association between a negative exercise test and a higher level of physical activity was shown by the Seven-day physical activity recall questionnaire. In addition, HRQoL was improved in various domains of the SF-36 in participants who had a negative exercise test. No correlations between physical activity, the exercise test and healthy behaviors, as assessed via the HBI were observed. CONCLUSIONS: Exercise test performance was affected by lower quality of life and lower physical activity after LT. With the exception of hypertension, well known factors that affect the risk of coronary artery disease had no effect on the exercise test results.

19.
Pol Arch Med Wewn ; 125(1-2): 39-45, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25533971

RESUMO

INTRODUCTION: Gastric cancer (GC) belongs to a group of cancers linked to BRCA2 gene mutations and observed in patients with a family history of breast and ovarian cancers. A common variant allele (C5972T) observed in the BRCA2 gene in the Polish population is associated with an increased risk of breast cancer. OBJECTIVES: The objective of the study was to assess a relationship between the BRCA2 C5972T variant and GC. PATIENTS AND METHODS: A total of 380 patients with GC (234 men and 146 women; mean age, 59.0 ±12.8 years) and 380 sex- and age-matched healthy individuals (234 men and 146 women; mean age, 59.0 ±12.9 years) were included in this retrospective study. Polymerase chain reaction-restriction fragments length polymorphism (PCR-RFLP) was used to detect the BRCA2 C5972T variant. We compared the frequency of BRCA2 allele carriers among patients and controls. We also compared selected clinical and pathological features between allele carriers and noncarriers among patients with GC. RESULTS: The BRCA2 C5972T variant was observed in 28 patients with GC (7.4%) and in 18 controls (4.7%) (P = 0.17). The odds ratio [OR] for GC in allele carriers was 1.59 (95% confidence interval [CI], 0.87-2.94). A comparison of selected clinical and pathological features between carriers and noncarriers did not show any significant differences. The analysis of a family history showed a trend for an increased risk of breast or ovarian cancer in the families of patients with GC carrying the C5972T allele (OR, 2.51; 95% CI, 0.80-7.88, P = 0.11). CONCLUSIONS: Our study showed that the C5972T allele is a low-penetrant variant of the BRCA2 gene, which tended to increase the risk of GC. Further research is needed to fully elucidate the role of BRCA2 polymorphisms in GC.  


Assuntos
Genes BRCA2 , Predisposição Genética para Doença , Neoplasias Gástricas/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Estudos de Casos e Controles , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polônia/epidemiologia , Polimorfismo de Nucleotídeo Único , Estudos Retrospectivos , Medição de Risco , Neoplasias Gástricas/epidemiologia , Adulto Jovem
20.
Eur J Hum Genet ; 11(12): 955-8, 2003 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-14647210

RESUMO

Germ-line mutations in the BRCA2 gene are associated with a wide range of cancer types, including the breast, ovary, pancreas, prostate and melanoma. In this study, we evaluated the importance of a family history of stomach cancer in predicting the presence of a BRCA2 mutation in Polish patients with ovarian cancer. A BRCA2 mutation was found in eight of 34 women with ovarian cancer and a family history of stomach cancer versus three of 75 women with ovarian cancer and a family history of ovarian cancer, but not of stomach cancer (odds ratio=7.4; 95% CI 1.8-30; P=0.004). The results of this study suggest that, in the Polish population, the constellation of ovarian and stomach cancer predicts the presence of a germ-line BRCA2 mutation and confirms that stomach cancer is part of the spectrum of BRCA2 mutations. It is expected that the penetrance of BRCA2 mutations for stomach cancer will vary from country to country, reflecting local environmental and lifestyle factors.


Assuntos
Neoplasias da Mama/genética , Genes BRCA2 , Mutação em Linhagem Germinativa , Neoplasias Ovarianas/genética , Feminino , Humanos , Polônia
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