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1.
J Allergy Clin Immunol ; 143(6): 2238-2253, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30660643

RESUMO

BACKGROUND: CD40 ligand (CD40L) deficiency, an X-linked primary immunodeficiency, causes recurrent sinopulmonary, Pneumocystis and Cryptosporidium species infections. Long-term survival with supportive therapy is poor. Currently, the only curative treatment is hematopoietic stem cell transplantation (HSCT). OBJECTIVE: We performed an international collaborative study to improve patients' management, aiming to individualize risk factors and determine optimal HSCT characteristics. METHODS: We retrospectively collected data on 130 patients who underwent HSCT for CD40L deficiency between 1993-2015. We analyzed outcome and variables' relevance with respect to survival and cure. RESULTS: Overall survival (OS), event-free survival (EFS), and disease-free survival (DFS) were 78.2%, 58.1%, and 72.3% 5 years after HSCT. Results were better in transplantations performed in 2000 or later and in children less than 10 years old at the time of HSCT. Pre-existing organ damage negatively influenced outcome. Sclerosing cholangitis was the most important risk factor. After 2000, superior OS was achieved with matched donors. Use of myeloablative regimens and HSCT at 2 years or less from diagnosis associated with higher OS and DFS. EFS was best with matched sibling donors, myeloablative conditioning (MAC), and bone marrow-derived stem cells. Most rejections occurred after reduced-intensity or nonmyeloablative conditioning, which associated with poor donor cell engraftment. Mortality occurred mainly early after HSCT, predominantly from infections. Among survivors who ceased immunoglobulin replacement, T-lymphocyte chimerism was 50% or greater donor in 85.2%. CONCLUSION: HSCT is curative in patients with CD40L deficiency, with improved outcome if performed before organ damage development. MAC is associated with better OS, EFS, and DFS. Prospective studies are required to compare the risks of HSCT with those of lifelong supportive therapy.

2.
J Ultrason ; 16(65): 204-9, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27446604

RESUMO

Infections in immunocompromised patients after hematopoietic stem cell transplantation can have a severe and atypical course. Some opportunistic pathogens are difficult to detect in microbiological tests, and that is why treatment success depends on an accurate clinical diagnosis. This article presents a case of a 7-year-old girl with severe aplastic anemia treated with bone marrow transplantation with post-transplantation period complicated by persistent, hectic fever, with peak episodes of 39-40°C, lasting several weeks. Repeated microbiological tests failed to reveal the etiological agent, and empirical anti-infective treatment was ineffective. In the fourth week of fever, imaging showed multiple foci resembling abscesses in the patient's internal organs and, subsequently, in soft tissues. The characteristics of these changes and data concerning environmental exposure led to the clinical diagnosis of cat scratch disease (bartonellosis) with multi-organ involvement and enabled the targeted treatment to be implemented. Fever subsided and organ lesions regressed. In this case, repeated ultrasound imaging was the basic diagnostic tool that helped arrive at a correct diagnosis and implement effective treatment of this life-threatening complication after hematopoietic stem cell transplantation.

3.
Exp Hematol ; 42(4): 252-60, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24407162

RESUMO

Visfatin (VF) is an adipocytokine that performs many functions, including enhancing cell proliferation and biosynthesis of nicotinamide mononucleotides and dinucleotides. It also seems to be involved in the development of glucose metabolism disturbances. The goal of the study was the determination of VF concentrations in children with leukemia who are treated with stem cell transplantation. VF concentrations were measured in plasma before and after oral glucose tolerance test (OGTT; 60 and 120 minutes) in 22 children with leukemia treated with hematopoietic stem cell transplantation (HSCT) and healthy control subjects (n = 24). The HSCT group was studied twice: before HSCT (22 children) and approximately 6 months after HSCT (12 of 22 children). After fasting, concentrations of glucose, insulin, triglycerides, total cholesterol, high-density lipoprotein, and high-sensitivity C-reactive protein (hsCRP) were determined. Significantly lower (p < 0.05) median values of VF concentrations at all time points in the OGTT were found in pre- HSCT children compared with control subjects. The median VF concentration was significantly higher after HSCT compared with before HSCT. The decrease in VF in leukemic children in complete remission may be caused by myelosuppression and immunosuppression after prolong chemotherapy and is beneficial because of the decrease in its antiapoptotic activity. VF can serve as an additional biochemical marker for remission in patients with leukemia. Normalization of plasma VF concentration after HSCT might be caused by a process of immune reconstitution and prolonged inflammation (e.g., infections, graft-versus-host disease), injury to organs (e.g., lungs, gut, liver), and endocrinology deficiencies.


Assuntos
Biomarcadores Tumorais/sangue , Citocinas/sangue , Transplante de Células-Tronco Hematopoéticas , Leucemia/sangue , Leucemia/terapia , Nicotinamida Fosforribosiltransferase/sangue , Adolescente , Adulto , Aloenxertos , Autoenxertos , Proteína C-Reativa/metabolismo , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino
4.
Przegl Epidemiol ; 66(1): 93-8, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22708306

RESUMO

INTRODUCTION: patients treated with hematopoietic stem cell transplantation (HSCT) lose immune memory accumulated through a lifetime. They are at increased risk of developing infections with microorganisms such as Haemophilus influenza, Streptococcus pneumoniae and others for which vaccines are available. Therefore, all patients after HSCT should be routinely revaccinated. Systemic reimmunization after HSCT is a relatively neglected area especially in countries which have not national recommendations and there is lack of systemic regulations in health care system. OBJECTIVE: the rate of immunization before transplantation and the persistence of vaccine-specific antibodies after HSCT was assessed. STUDY DESIGN: a group of38 children after stem cell transplantation (19 autologous, 19 allogeneic) was studied. RESULTS: only a few patients completed standard vaccination protocol before HSCT. At the median time of 29 (range: 6-67) months after autologous and 13 (range: 8-33) months after allogeneic HSCT, when the revaccination was commenced, the majority of children had concentration of antibody lower than the minimum protective thresholds. That was 82% for tetanus, 71% for Hib and varicella, 46% for HBV and 38% for diphtheria. CONCLUSIONS: all HSCT recipients should be routinely revaccinated to stimulate the immunity to the vaccine-preventable diseases.


Assuntos
Vacinas Bacterianas/administração & dosagem , Vacinas Bacterianas/imunologia , Transplante de Células-Tronco Hematopoéticas , Esquemas de Imunização , Vacinas Virais/administração & dosagem , Vacinas Virais/imunologia , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Vacinas Anti-Haemophilus/administração & dosagem , Vacinas Anti-Haemophilus/imunologia , Humanos , Memória Imunológica , Lactente , Masculino , Vacina contra Sarampo/administração & dosagem , Vacina contra Sarampo/imunologia , Vacinas Meningocócicas/administração & dosagem , Vacinas Meningocócicas/imunologia , Vacinas Pneumocócicas/administração & dosagem , Vacinas Pneumocócicas/imunologia , Vacinas contra Poliovirus/administração & dosagem , Vacinas contra Poliovirus/imunologia
5.
Przegl Lek ; 68(4): 185-90, 2011.
Artigo em Polonês | MEDLINE | ID: mdl-21853671

RESUMO

Currently, granulocyte colony stimulating factor (G-CSF) alone or in combination with myelosuppresive chemotherapy remain the standards of CD34+ cells mobilization allows the safe and successful collection of adequate peripheral blood stem cells (PBSC) for autologous transplantation. However, in up to 30% of patients mobilization of PBSC is ineffective. This report presents our experience in mobilization and collection of peripheral blood stem cells in 82 children with different proliferative disease. In mobilization G-CSF was administered alone in steady state (56 patients, pts) or in combination with myelosuppresive chemotherapy (26 pts). The CD34+ cell count at least 10 cells/ml was required to start apheresis procedure, which was repeated, if needed, during following 1-4 days until collection of at least 2 (optimally 3) x106 CD34+ cells/kg b.w. of recipient was obtained. Three pts in each group (3/ 56 and 3/26) failed the first course of mobilization. The median number of CD34+ cells mobilized was 4.8 (0.5-15) x106/kg b.w. The minimal and optimal number of CD34+ cells for transplantation was achieved in 85% and 61% of patients in the G-CSF + chemotherapy group and in 84% and 54% in the G-CSF group, respectively. The efficacy of presented mobilization arms in our group was similar. However, the incidence of infection and total hospitalization time during mobilization were higher in chemotherapy + G-CSF group.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Mobilização de Células-Tronco Hematopoéticas/métodos , Transplante de Células-Tronco Hematopoéticas/métodos , Neoplasias/terapia , Antígenos CD34/imunologia , Remoção de Componentes Sanguíneos , Criança , Feminino , Humanos , Lactente , Masculino , Transplante Autólogo
6.
J Clin Immunol ; 31(3): 332-7, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21384251

RESUMO

Chronic granulomatous disease (CGD) is phagocytic cell metabolic disorder resulting in recurrent infections and granuloma formation. This paper reports the favourable outcome of allogeneic transplantation in six high-risk CGD patients. The following donors were used: HLA-matched, related (two) and unrelated (three), and HLA-mismatched, unrelated (one). One patient was transplanted twice using the same sibling donor because of graft rejection at 6 months after reduced-intensity conditioning transplant (fludarabine and melphalan). Myeloablative conditioning regimen consisted of busulphan and cyclophosphamide. Stem cell source was unmanipulated bone marrow containing: 5.2 (2.6-6.5) × 10(8) nucleated cells, 3.8 (2.0-8.0) × 10(6) CD34+ cells and 45 (27-64) × 10(6) CD3+ cells per kilogramme. Graft-versus-host disease prophylaxis consisted of cyclosporine A and, for unrelated donors, short course of methotrexate and anti-T-lymphocyte globulin. Mean neutrophile and platelet engraftments were observed at day 22 (20-23) and day 20 (16-29), respectively. Pre-existing infections and inflammatory granulomas resolved. With the follow-up of 4-35 months (mean, 20 months), all patients are alive and well with full donor chimerism and normalized superoxide production.


Assuntos
Bussulfano/administração & dosagem , Ciclofosfamida/administração & dosagem , Doença Enxerto-Hospedeiro/prevenção & controle , Doença Granulomatosa Crônica/terapia , Transplante de Células-Tronco Hematopoéticas , Agonistas Mieloablativos/administração & dosagem , Condicionamento Pré-Transplante , Adolescente , Antígenos CD , Criança , Pré-Escolar , Ciclosporina/administração & dosagem , Intervalo Livre de Doença , Feminino , Sobrevivência de Enxerto , Doença Granulomatosa Crônica/imunologia , Doença Granulomatosa Crônica/mortalidade , Doença Granulomatosa Crônica/patologia , Antígenos HLA/imunologia , Humanos , Lactente , Masculino , Fatores de Risco , Quimeras de Transplante/imunologia , Transplante Homólogo
7.
Med Wieku Rozwoj ; 14(1): 42-52, 2010.
Artigo em Polonês | MEDLINE | ID: mdl-20608428

RESUMO

UNLABELLED: The aim of the study was the evaluation of safety and efficacy of vaccination in children after stem cell transplantation. PATIENTS AND METHODS: 21 patients, 1.4-22 (average 7.8) years old, 13 boys and 8 girls after autologous (11-52%) and allogeneic (10-48%) transplantation were included in the vaccination protocol. Indications for transplantation were: neoplastic disease--16, immunodeficiencies--3 and aplastic anaemia 2 cases. Time between transplantation and beginning of vaccination protocol was 0.8-4 (average 1.5) years. Vaccination protocol was constructed on the basis of the European Group for Blood and Marrow Transplantation indications. We have evaluated: (1) quality of recipient immune reconstitution and protection against common pathogens (2) immunogenicity of revaccination schedule; (3) safety of the vaccination programme. RESULTS: With the exception of one patient presenting with repeated fever, lymph node enlargement, muscle and joint pain, no important side effects were observed. Meningococcial meningitis developed in one patient who refused vaccination. The mean concentrations of antibodies in the plasma before and after vaccination were as follows: anti-diphteria (54; 2285), anti-tetanus (136; 3149) and anti-hepatitis B virus (anti-HBs: 24; 474) IU/ml. CONCLUSIONS: (1) Vaccination in patients after transplantation is efficient and well tolerated. (2) Significant increase of antibody level was detected. (3) Any delay in beginning the vaccination can result in life threatening complications.


Assuntos
Transplante de Células-Tronco/efeitos adversos , Transplante Autólogo/imunologia , Transplante Homólogo/imunologia , Vacinação , Adolescente , Criança , Pré-Escolar , Feminino , Febre/etiologia , Humanos , Esquemas de Imunização , Lactente , Masculino , Meningite Meningocócica/etiologia , Vacinação/efeitos adversos
8.
Przegl Lek ; 67(1): 36-9, 2010.
Artigo em Polonês | MEDLINE | ID: mdl-20509570

RESUMO

Congenital and acquired neurodegradative diseases are always the reason for prolonged stay in hospital, at the beginning of the establishment of diagnosis and treatment and afterwards for stabilizing all functional adaptation to an existence with the severe disability. Also infections of the lower respiratory tract accompanying the later course of the disease are usually directed to hospital treatment. The aim of the study was to delineate the role of hospice care of patients staying at home, in economical approach to the medical care of severly and incurably ill children. The study group consisted of 29 children with neurodegradative diseases, aged 6 months to 18 years, admitted to the home care of Priest Józef Tischner Cracovian Children' Hospice. The costs of yearly treatment (based on 2008 data) of the infections of the lower airways in the studied group, performed at home under the hospice care and in hospital, were compared. The actual expenses of home treatment were counted. Considering the hospital therapy costs, the simulation was performed following median expenses of a 10-day-treatment of a 20 kg-in-weight child with uncomplicated lower respiratory tract infection in pediatric department with the use of the first line therapy antibiotic. Three parameters were taken to calculations: the medical care costs, the expenses of laboratory tests and X-ray pictures and the costs of antibiotics. In studied children 61 cases of lower respiratory tract infections were diagnosed in 2008 (the median incidence was 2,1 per year; ranged 0-7), of which 48 cases were treated at home. The median time of antibiotics administration in home treatment was 13 days. In 31% of infections more than one antibiotic was used. In 19% of cases in home therapy parenteral medicine was necessary. The median summarized cost of treat- ment at home was calculated as 2657 zl. The need for hospital care in our group concerned 13 incidences. The median estimated cost of treatment of the lower airways infection in hospital for one child equaled 4942 zl. The expenses of home treatment of the lower airways infections under the hospice care were twice lower than the costs of the therapy in hospital. Apart from the obvious psychological and social benefits, also economic aspect contributes to the promotion of the hospice care of staying-at-home patient in the improvement of medical care for children with severe neurodegradative diseases.


Assuntos
Antibacterianos/economia , Custos de Cuidados de Saúde , Cuidados Paliativos na Terminalidade da Vida/economia , Doenças Neurodegenerativas/complicações , Infecções Respiratórias/complicações , Infecções Respiratórias/economia , Adolescente , Antibacterianos/administração & dosagem , Criança , Pré-Escolar , Feminino , Serviços de Assistência Domiciliar/economia , Humanos , Lactente , Masculino , Doenças Neurodegenerativas/congênito , Nutrição Parenteral no Domicílio/economia , Polônia , Infecções Respiratórias/tratamento farmacológico
9.
Przegl Lek ; 67(1): 40-4, 2010.
Artigo em Polonês | MEDLINE | ID: mdl-20509571

RESUMO

Infections are one of the most important clinical problem and most frequent cause of interventions among chronically ill children under hospice care. Frequent and long-lasting hospitalizations before admission to the hospice cause patients' colonization with nosocomial pathogens. These pathogens usually cause returning infections, difficult to cure in home care. The aim of the study was evaluation of colonization by multidrug-resistant organisms and infections' frequency in chronically and incurably ill children under care of the Cracow Children's Hospice of Father J. Tischner. We analyzed infections in patients of the Hospice in 2008-2009. Frequency of infections, their localization, pathogens and necessity of hospitalization were evaluated. On the basis of microbiological examination we distinguished infections caused by multidrug resistant pathogens. Ninety microbiological examination were made in 24 children. Urine, stool, pharyngeal and nasal swap and others were examined. Nosocomial pathogens including Gram-negative rods with ESBL phenotype, Gram-positive Enterococci with HLAR phenotype and Staphylococci with MRCNS and MRSA phenotype were isolated in 36 (40%) examinations, in 17 (71%) patients. Frequency of infections was higher in patients colonized by nosocomial pathogens in comparison with patients without colonization, but difference was not statistically important. There are many factors that increase risk of infections and make them difficult to treat, like: immobilization, impaired swallowing and coughing reflexes, thorax deformation, neurogenic bladder, tracheostomy. Multi-drug resistant pathogens are additional risk factor that can lead to the necessity of hospitalization. In chronically and incurably ill patients time of hospitalization should be minimized to reduce the risk of colonization with multi-drug resistant pathogens.


Assuntos
Infecção Hospitalar/epidemiologia , Infecção Hospitalar/microbiologia , Resistência a Múltiplos Medicamentos , Cuidados Paliativos na Terminalidade da Vida/estatística & dados numéricos , /microbiologia , Tempo de Internação/estatística & dados numéricos , Adolescente , Criança , Pré-Escolar , Doença Crônica , Infecção Hospitalar/tratamento farmacológico , Feminino , Humanos , Incidência , Lactente , Masculino , Polônia/epidemiologia
10.
Przegl Lek ; 67(1): 80-2, 2010.
Artigo em Polonês | MEDLINE | ID: mdl-20509581

RESUMO

In departments of neurology, neurosurgery and hospice care there is a group of patients with compete motor function impairment having normal central nervous system function. Victims of spinal cord injury, cerebral palsy, cerebral stroke, loss of extremities, neuromuscular diseases, between others belong to them. Since two decades an intensive studies of use of brain waves to steer peripheral equipments has been performed. Brain Computer Interface and Brain-Machine Interface will allow in the near future for even partial restore of skills in permanently disabled patients. Recently new sets composed of games steered by brain waves have been introduced to the market. Exercises with such equipment will help to control an ability to concentrate and precise steer of the peripheral electronic equipments. The next phase will be use of the new skills to steer the wheelchairs and other computer programs with the brain signals to control own healthy organs or artificial machines.


Assuntos
Dano Encefálico Crônico/reabilitação , Sistemas Homem-Máquina , Doenças Neuromusculares/reabilitação , Qualidade de Vida , Interface Usuário-Computador , Desenho de Equipamento , Humanos , Reabilitação do Acidente Vascular Cerebral , Cadeiras de Rodas
11.
Pediatr Transplant ; 13(6): 760-5, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18992055

RESUMO

OS is a variant of SCID characterized by generalized erythroderma, alopecia, eosinophilia, and elevated IgE levels. It is fatal unless treated with allogeneic HSCT, which is the only curative approach. However, treatment related complications and graft rejection are major obstacles to the success of treatment. In this report, we describe a patient with OS, complicated by prolonged cytomegalovirus infection, successfully treated by reduced intensity conditioning allogeneic HSCT from sibling donor.


Assuntos
Transplante de Medula Óssea/métodos , Transplante de Células-Tronco Hematopoéticas/métodos , Imunodeficiência Combinada Severa/terapia , Condicionamento Pré-Transplante/métodos , Antivirais/uso terapêutico , Infecções por Citomegalovirus/etiologia , Infecções por Citomegalovirus/terapia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Sistema Imunitário , Imunossupressores/uso terapêutico , Lactente , Linfócitos/citologia , Masculino , Imunodeficiência Combinada Severa/complicações , Irmãos , Transplante Homólogo/métodos , Resultado do Tratamento
12.
Przegl Lek ; 63(1): 47-52, 2006.
Artigo em Polonês | MEDLINE | ID: mdl-16892901

RESUMO

Hemophagocytic syndrome (HS) is a rare but life-threatening disease caused by inappropriate activation of T-lymphocytes and histiocytes, hipercytokinemia and hemophagocytosis. The most common symptoms are fever, hepatosplenomegaly, unspecific neurological abnormalities, pancytopenia, coagulopathy, hiperferritinemia and lipid abnormalities. HS is classified into two forms: primary, inherited (Familial Hamophagocytic Lymphohistiocytosis--FHL) and secondary (associated with infection, malignancy, autoimmune disease). In spite of the fact that diagnostic guidelines are available it often remains unrecognised. Prognosis of HS depends on the form of disease and in case of secondary HS on the underlying disease. Development of the treatment protocols (HLH-94, HLH-2004) which combine immunochemiotherapy with hematopoietic stem cell transplantation has strongly improved prognosis in HS especially in the primary form. Three-year overall survival for children with HS is now over 50%. Early diagnosis and appropriate therapy is crucial for effectiveness of the treatment. Popularisation of the knowledge about the syndrome, diagnostic guidelines and treatment protocols can contribute to more frequent appropriate recognition of HS and to improvement of the treatment results.


Assuntos
Transtornos Histiocíticos Malignos/diagnóstico , Histiocitose de Células não Langerhans/diagnóstico , Linfo-Histiocitose Hemofagocítica/diagnóstico , Criança , Diagnóstico Diferencial , Transtornos Histiocíticos Malignos/epidemiologia , Transtornos Histiocíticos Malignos/genética , Transtornos Histiocíticos Malignos/imunologia , Histiocitose de Células não Langerhans/epidemiologia , Histiocitose de Células não Langerhans/genética , Histiocitose de Células não Langerhans/imunologia , Humanos , Síndrome , Linfócitos T/imunologia , Linfócitos T/patologia
13.
Przegl Lek ; 61 Suppl 2: 85-8, 2004.
Artigo em Polonês | MEDLINE | ID: mdl-15686054

RESUMO

The aim of the study was to evaluate the efficacy of hepatitis B prophylaxis in children with acute lymphoblastic leukemia (ALL) and to try to determine the optimal procedure of protection against the infection. The retrospective analysis included 229 patients with ALL divided into three groups depending on the type of anti-HBV prophylaxis. The group 1 (1990-91, 38 patients) received only sporadically passive prophylaxis, in the group 2 (1992-94, 55 patients) passive prophylaxis was regular, and the patients of the group 3 (1995-2001, 138 children) received complete active and passive prophylaxis. Among vaccinated children three subgroups were additionally distinguished: subgroup a--vaccination was completed before the disease, subgroup b--the cycle of vaccination began before and continued during the therapy, subgroup c--the whole cycle of vaccination was performed during the ALL treatment. The efficacy of the prophylaxis was evaluated taking into account the incidence of hepatitis B and the level of anti-HBs antibodies in vaccinated children. Additionally the incidence of hepatitis C was assessed to evaluate the role of unspecific prophylaxis. The incidence of hepatitis B in the group 1, 2, and 3 was: 57.9%, 23.6%, and 0.76%, respectively, and the incidence of hepatitis C: 44.7%, 36.4%, and 5.9%, respectively. The percent of the failure of active prophylaxis in the subgroup a, b, and c was: 29%, 53%, and 93%, respectively. In spite of the reduction of exposure to the infection (unspecific prophylaxis), the role of specific prophylaxis is essential. The program of passive and active prophylaxis used by us is efficient in preventing hepatitis B in children with ALL. However, during the intensive chemotherapy only passive prophylaxis should be used with postponement of the vaccination because of very low response to the vaccination applied in this phase of treatment. Regular control of anti-HBs antibodies' level is essential in all patients with leukemia even in those with initially high level of antibodies.


Assuntos
Vacinas contra Hepatite B/uso terapêutico , Hepatite B/prevenção & controle , Imunização Passiva , Leucemia-Linfoma Linfoblástico de Células Precursoras , Adjuvantes Imunológicos/uso terapêutico , Adolescente , Criança , Pré-Escolar , Feminino , Hepatite B/epidemiologia , Hepatite B/imunologia , Anticorpos Anti-Hepatite B/sangue , Antígenos de Superfície da Hepatite B/imunologia , Vacinas contra Hepatite B/imunologia , Vírus da Hepatite B/imunologia , Humanos , Imunização Passiva/estatística & dados numéricos , Lactente , Masculino , Polônia , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras/imunologia , Estudos Retrospectivos , Índice de Gravidade de Doença , Estatísticas não Paramétricas , Resultado do Tratamento
14.
Med Sci Monit ; 9(2): BR91-5, 2003 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-12601293

RESUMO

BACKGROUND: Hereditary hemochromatosis (HH) is characterized by excess iron deposition. Two mutations in the HFE gene are associated with HH. Heterozygous carriers of HFE mutations are at higher risk of developing type 2 diabetes mellitus (T2DM). The aims of our project were to identify the frequency of C282Y and H63D mutations in a population from the Malopolska region of south-eastern Poland, and to search for an association of HFE mutations with T2DM. MATERIAL/METHODS: We included 391 individuals in this study: 222 T2DM patients and 169 controls. Genotypes were determined by electrophoresis of the DNA digestion products from SnaBI and DpnII, respectively. Differences in distributions between the groups were then analyzed by the chi-squared test. RESULTS: The frequency of wild/C282Y alleles was 98.2%/1.8% in T2DM patients and 96.7%/3.2% in controls (p=0.19). The frequency of wild/H63D alleles was 85.6%/14.4% and 88.8%/11.2% (p= 0.19), respectively. The distribution of genotypes was not statistically different. However, in stratified analyses based on age of T2DM onset and gender, we observed a higher prevalence of wild/H63D and H63D/H63D genotypes among T2DM patients diagnosed at > 49 years of age, the mean age for the entire group (p=0.018), and among male T2DM individuals (p=0.005) than in controls. CONCLUSIONS: The frequency of HH-associated mutations in this population from south-eastern Poland is similar to other Caucasians. We found no evidence for the association of the C282Y mutation with T2DM. The results do suggest, however, that the H63D mutation may play a role in the pathogenesis of late onset T2DM and in males in this Polish population.


Assuntos
Diabetes Mellitus Tipo 2/genética , Antígenos de Histocompatibilidade Classe I/genética , Proteínas de Membrana/genética , Mutação Puntual , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Frequência do Gene , Genótipo , Hemocromatose/genética , Proteína da Hemocromatose , Humanos , Masculino , Pessoa de Meia-Idade , Polônia
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