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1.
Ter Arkh ; 91(4): 118-121, 2019 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-31094485

RESUMO

Hereditary hemochromatosis (HH) is a disease with an autosomal recessive hereditary type, stipulated by the genetic defect that leads to a high intestinal absorption of iron and primary accumulation in the parenchymal cells of the liver and other organs. This is the most common hereditary disease among White population, the frequency is about 1 case per 250 people. The prevalence of HH is inhomogeneous, people from countries in Northern Europe, especially Scandinavian, are more susceptible to this disease. Mutations of the HFE gene account for approximately 90% of HH cases. In HH excess iron deposits mainly in the cytoplasm of parenchymal cells of various organs and tissues: in the liver, pancreas, endocrine glands, skin and joints. The clinical picture of HH is characterized by the classical triad development: cirrhosis of the liver, diabetes mellitus (DM) and hyperpigmentation. HH may also manifest itself as various endocrinopathies (hypofunction of hypophysis, adrenal glands, thyroid gland, arthropathy, cardiomyopathy). Diagnostics of HH is based on the determination of the iron metabolism values: serum iron, transferrin saturation, the amount of ferritin, the genetic tests, liver biopsy data are used to confirm the diagnosis. Despite the fact that HH is a well-studied disease, in some cases it is complicated to diagnose it. Developed posthemorrhagic anemia in a patient is one of such reasons when the iron metabolism test is not informative.


Assuntos
Anemia , Hemocromatose/diagnóstico , Sobrecarga de Ferro/diagnóstico , Ferro/metabolismo , Europa (Continente) , Hemocromatose/genética , Proteína da Hemocromatose , Antígenos de Histocompatibilidade Classe I/genética , Antígenos de Histocompatibilidade Classe I/metabolismo , Humanos , Sobrecarga de Ferro/complicações , Proteínas de Membrana/genética
2.
Case Rep Oncol ; 11(3): 814-821, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30627097

RESUMO

INTRODUCTION: Due to the beginning of the use of immunophenotypic and cytogenetic techniques, new nosological forms of lymphoproliferative diseases have appeared over the past few decades. According to the WHO classification (2008), today there are more than 50 known lymphoproliferative diseases. CASE PRESENTATION: We present the case of a 51-year-old man with lymphoproliferative syndrome. Our patient underwent morphological and immunohistochemical investigations of biopsy materials from the right inguinal lymph node. The morphological picture was characteristic for small cell lymphoma. Immunophenotypically, tumor proliferate cells expressed CD20, CD76b, CD5, and cyclin D, and the tumor immunophenotype matched mantle cell lymphoma. DISCUSSION: At the present stage of the development of medicine, the diagnosis of lymphoproliferative diseases is based on the clinical picture of the disease with the definition of localization and characteristics of the tumor process, morphological study of tumor tissue and cells, and immunophenotypic and/or cytogenetic analyses are mandatory to determine the final diagnosis.

3.
Klin Med (Mosk) ; 82(2): 36-9, 2004.
Artigo em Russo | MEDLINE | ID: mdl-15106509

RESUMO

Skin biopsy is the most significant method for diagnosis of microcirculatory disorders in diabetes mellitus of type 2 (DM2) and ischemic heart disease (IHD). This method provides earlier detection of microcirculatory changes which is essential for prophylaxis of life-threatening vascular complications and early treatment. 29 IHD and DM2 patients were examined. In the period of DM compensation and stable angina these patients underwent incision biopsy. Morphological preparations were studied histologically and immunohistochemically. The data obtained allowed estimation of the mean time of development of diabetic microangiopathy (MAP) in these patients. The results show that in combination of DM2 and IHD microcirculatory disorders in skin biopsies develop later than in DM2 without IHD; MAP progression correlates with DM duration; clinical compensation of patients with IHD and DM2 depresses progression of DMA. A method of choice in diagnosis of microcirculatory disorders in DM patients is skin biopsy.


Assuntos
Diabetes Mellitus Tipo 2/complicações , Angiopatias Diabéticas/diagnóstico , Isquemia Miocárdica/complicações , Pele/irrigação sanguínea , Adulto , Idoso , Biópsia , Diabetes Mellitus Tipo 2/fisiopatologia , Angiopatias Diabéticas/complicações , Angiopatias Diabéticas/fisiopatologia , Feminino , Humanos , Masculino , Microcirculação , Pessoa de Meia-Idade , Isquemia Miocárdica/fisiopatologia
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