RESUMO
No abstract available.
Assuntos
Adulto , Humanos , Masculino , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Benzamidas/uso terapêutico , Exame de Medula Óssea , Quimiorradioterapia , Ciclofosfamida/administração & dosagem , Doxorrubicina/administração & dosagem , Cariotipagem , Leucemia Mielogênica Crônica BCR-ABL Positiva/diagnóstico , Linfoma Difuso de Grandes Células B/diagnóstico , Segunda Neoplasia Primária , Piperazinas/uso terapêutico , Tomografia por Emissão de Pósitrons , Prednisolona/administração & dosagem , Inibidores de Proteínas Quinases/uso terapêutico , Pirimidinas/uso terapêutico , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Vincristina/administração & dosagem , Imagem Corporal Total/métodosRESUMO
Factor XI (FXI) deficiency is a rare autosomal recessive coagulation disorder most commonly found in Ashkenazi and Iraqi Jews, but it is also found in other ethnic groups. It is a trauma or surgery-related bleeding disorder, but spontaneous bleeding is rarely seen. The clinical manifestation of bleeding in FXI deficiency cases is variable and seems to poorly correlate with plasma FXI levels. The molecular pathology of FXI deficiency is mutation in the F11 gene on the chromosome band 4q35. We report a novel mutation of the F11 gene in an 18-year-old asymptomatic Korean woman with mild FXI deficiency. Pre-operative laboratory screen tests for lipoma on her back revealed slightly prolonged activated partial thromboplastin time (45.2 sec; reference range, 23.2-39.4 sec). Her FXI activity (35%) was slightly lower than the normal FXI activity (reference range, 50-150%). Direct sequence analysis of the F11 gene revealed a heterozygous A to G substitution in nucleotide 1517 (c.1517A>G) of exon 13, resulting in the substitution of aspartic acid with glycine in codon 506 (p.Asp506Gly). To the best of our knowledge, the Asp506Gly is a novel missense mutation, and this is the first genetically confirmed case of mild FXI deficiency in Korea.
Assuntos
Adolescente , Feminino , Humanos , Substituição de Aminoácidos , Povo Asiático/genética , Sequência de Bases , Cromossomos Humanos Par 4 , Éxons , Deficiência do Fator XI/sangue , Heterozigoto , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Estrutura Terciária de Proteína , República da Coreia , Análise de Sequência de DNARESUMO
BACKGROUND: The objective of this study was to explore whether individual variations in the concentration of growth factors (GFs) influence the biologic effects of platelet-rich plasma (PRP) on human mesenchymal stem cells (HMSCs). METHODS: The concentrations of 7 representative GFs in activated PRP (aPRP) were measured using ELISA. The effects of PRP on the proliferation and alkaline phosphatase (ALP) activity of HMSCs were examined using several concentrations of aPRP from 3 donors; the relationships between the GF levels and these biologic effects were then evaluated using 10% aPRP from 5 subgroups derived from 39 total donors. HMSCs were cultured in DMEM with the addition of aPRP for 4 or 12 days; then, DNA content and ALP activity were measured. RESULTS: The quantity of DNA increased significantly at a 10% concentration of aPRP, but the ALP activity was suppressed at this concentration of aPRP. The GF concentrations varied among donors, and 5 subgroups of characteristic GF release patterns were identified via cluster analysis. DNA levels differed significantly between groups and tended to be higher in groups with higher concentrations of transforming growth factor-beta1 (TGF-beta1) and platelet-derived growth factors (PDGFs). DNA quantity was positively correlated with TGF-beta1 concentration, and was negatively correlated with donor age. ALP activity was negatively correlated with PDGF-BB concentration. CONCLUSIONS: The varying GF concentrations may result in different biologic effects; thus, individual differences in GF levels should be considered for reliable interpretation of the biologic functions and standardized application of PRP.
Assuntos
Humanos , Fosfatase Alcalina/metabolismo , Doadores de Sangue , Diferenciação Celular , Células Cultivadas , Meios de Cultura/química , DNA/análise , Peptídeos e Proteínas de Sinalização Intercelular/farmacologia , Células-Tronco Mesenquimais/citologia , Fator de Crescimento Derivado de Plaquetas/farmacologia , Plasma Rico em Plaquetas/metabolismo , Fator de Crescimento Transformador beta1/farmacologiaRESUMO
Transfusion-related acute lung injury (TRALI) is a serious clinical syndrome associated with transfusion and has come to be recognized as the leading cause of transfusion-related death recently. TRALI occurs more often in critically ill patients (sepsis, surgery, massive transfusion, cytokine administration) than in a general hospital population, possibly due to the presence of underlying inflammatory conditions that may prime pulmonary neutrophils. We report a case of TRALI developed in a female aplastic anemia patient who presented with a persisting fever for several days. Serologic tests of the patient were consistent with acute EBV infection. As hemophagocytic lymphohistiocytosis developed under septic condition, bicytopenia persisted and the patient needed repeated transfusions. Following transfusion of the blood components, the patient experienced hypotension and a significant change in respiratory status within 6 hours. A chest computed tomography showed newly developed diffuse ground-glass opacities on both lungs. The finding was a non-cardiogenic effect and there was no volume overloading. Anti-neutrophil antibody was detected in serum, and the patient was diagnosed as TRALI. Recurrent lung injury with prolonged pancytopenia caused pulmonary hemorrhage. The patient was managed with mechanical ventilation prior to death.
Assuntos
Feminino , Humanos , Lesão Pulmonar Aguda , Anemia Aplástica , Estado Terminal , Infecções por Vírus Epstein-Barr , Febre , Hemorragia , Hospitais Gerais , Hipotensão , Pulmão , Lesão Pulmonar , Linfo-Histiocitose Hemofagocítica , Neutrófilos , Pancitopenia , Respiração Artificial , Testes Sorológicos , TóraxRESUMO
Transfusion-related acute lung injury (TRALI) is a serious clinical syndrome associated with transfusion and has come to be recognized as the leading cause of transfusion-related death recently. TRALI occurs more often in critically ill patients (sepsis, surgery, massive transfusion, cytokine administration) than in a general hospital population, possibly due to the presence of underlying inflammatory conditions that may prime pulmonary neutrophils. We report a case of TRALI developed in a female aplastic anemia patient who presented with a persisting fever for several days. Serologic tests of the patient were consistent with acute EBV infection. As hemophagocytic lymphohistiocytosis developed under septic condition, bicytopenia persisted and the patient needed repeated transfusions. Following transfusion of the blood components, the patient experienced hypotension and a significant change in respiratory status within 6 hours. A chest computed tomography showed newly developed diffuse ground-glass opacities on both lungs. The finding was a non-cardiogenic effect and there was no volume overloading. Anti-neutrophil antibody was detected in serum, and the patient was diagnosed as TRALI. Recurrent lung injury with prolonged pancytopenia caused pulmonary hemorrhage. The patient was managed with mechanical ventilation prior to death.
Assuntos
Feminino , Humanos , Lesão Pulmonar Aguda , Anemia Aplástica , Estado Terminal , Infecções por Vírus Epstein-Barr , Febre , Hemorragia , Hospitais Gerais , Hipotensão , Pulmão , Lesão Pulmonar , Linfo-Histiocitose Hemofagocítica , Neutrófilos , Pancitopenia , Respiração Artificial , Testes Sorológicos , TóraxRESUMO
Partial trisomy 2p is a rare but relatively well-defined syndrome with distinctive clinical features, including marked psychomotor delay, dysmorphic face, and congenital heart disease. The phenotype of trisomy 18p is variable, from normal appearance to moderate mental retardation. Most cases of trisomy 2p and trisomy 18p result from the inheritance of an unbalanced segregant from a balanced parental translocation or due to de novo duplication. Here, we present the first report of a combined partial trisomy 2p and trisomy 18p due to a supernumerary marker chromosome (SMC). The final karyotype of the patient was 47,XX,+der(18)t(2;18)(p23.1;q11.1)[22]/46,XX[8]. The patient had typical dysmorphic features of partial trisomy 2p23-pter syndrome and congenital heart disease. SMCs are remarkably variable in euchromatic DNA content and mosaicism level. The precise identification of the origin and composition of SMCs is essential for genotype-phenotype correlation and genetic counseling.
Assuntos
Feminino , Humanos , Recém-Nascido , Anormalidades Múltiplas/genética , Cromossomos Humanos Par 18 , Cromossomos Humanos Par 2 , Análise Citogenética , Aconselhamento Genético , Cardiopatias Congênitas/genética , Hibridização in Situ Fluorescente , Cariotipagem , Síndrome , Trissomia/diagnósticoRESUMO
In B lymphoblastic leukemia/lymphoma (B-ALL/LBL), t(9;22)(q34;q11.2) and t(1;19)(q23;p13.3) are recurrent cytogenetic abnormalities. The concurrent occurrence of both abnormalities is very rare, and only 3 cases have been previously reported. Here, we report a case of adult B-ALL with ider(9)(q10)t(9;22)(q34;q11.2) and der(19)t(1;19)(q23;p13.3). A literature review revealed that ider(9) (q10)t(9;22) is a rare variant of t(9;22) with a deletion of the short arm of chromosome 9. Fifteen cases of ider(9)(q10)t(9;22) have been reported. This abnormality is specific to precursor B-lymphoid neoplasms, such as B-ALL or B-lymphoid blast phase of CML, and is associated with disease progression or short survival. The cytogenetic abnormality t(1;19) is also specific to B-ALL. In most instances of t(1;19), TCF3 is fused to PBX1; however, a few cases have identical translocations but no TCF3-PBX1 fusion, as was observed in our patient. We describe the first case of ider(9)(q10)t(9;22) in combination with TCF3-PBX1 negative t(1;19). The patient underwent imatinib therapy in addition to intensive chemotherapy, but failed to achieve remission.
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Células da Medula Óssea/citologia , Deleção Cromossômica , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 19 , Cromossomos Humanos Par 22 , Cromossomos Humanos Par 9 , Proteínas de Fusão bcr-abl/genética , Hibridização in Situ Fluorescente , Cariotipagem , Leucemia-Linfoma Linfoblástico de Células Precursoras B/diagnóstico , Translocação GenéticaRESUMO
Chromosome 1 band p32 (1p32) aberrations are common in T lymphoblastic leukemia/lymphoma (T-ALL/LBL). Two types of 1p32 aberrations include translocations with different partners and submicroscopic interstitial deletion. Both aberrations are known to result in TAL1 gene deregulation. The t(1;5)(p32;q31) is a rare translocation of 1p32 in T-ALL. We now present the second case of t(1;5)(p32;q31) in T-ALL, which was present as a primary cytogenetic abnormality, with a review of the relevant literature. Interestingly, neither the translocation of the TAL1 gene nor aberrant expression of TAL1 protein was detected by fluorescent in situ hybridization (FISH) and by immunohistochemical staining in this case.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Medula Óssea/patologia , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 5 , Cariotipagem , Leucemia-Linfoma Linfoblástico de Células T Precursoras/diagnóstico , Proteínas Proto-Oncogênicas/genética , Tomografia Computadorizada por Raios X , Translocação GenéticaRESUMO
OBJECTIVES: The aim of this study is to examine the cognitive function change related to aging, the incidence of cognitive impairment, and the association between apolipoprotein E polymorphism and cognitive impairment through a follow-up of the elderly with normal cognitive ability at baseline. METHODS: Two hundred and fifteen subjects aged 65 and over were surveyed in February, 1998 (baseline survey), and their cognitive function was assessed again in 2003 (1st follow-up) and the once again in 2006 (2nd follow-up). Ninety one subjects completed all surveys up through the 2nd follow-up and their cognitive function scores using MMSE-K (Korean Version of the Mini-Mental State Examination) and the distribution of apolipoprotein E allele were analyzed. RESULTS: The cognitive function scores decreased with aging and the difference between baseline and the 2nd follow-up scores of the study increased with the age group. The incidence rate of cognitive impairment through an 8-year follow-up was 38.5% and higher in older age groups. Age was the only significant factor for incidence of cognitive impairment, but there was no significant association between apolipoprotein E genotype and incidence of cognitive impairment. CONCLUSIONS: The cognition of the elderly decreased with aging and the association of apolipoprotein E genotype with incidence of cognitive impairment was not significant in this study. To confirm the association between apolipoprotein E polymorphism and incidence of cognitive impairment further studies will be needed.
Assuntos
Idoso , Feminino , Humanos , Masculino , Apolipoproteínas E/genética , Cognição/fisiologia , Transtornos Cognitivos/etiologia , Coreia (Geográfico) , Polimorfismo GenéticoRESUMO
Renal damage in patients with myeloma is one of the most important causes of acute renal failure. Although cast nephropathy characterized by cast formation in the distal nephron is the main renal lesion, a diverse spectrum of renal lesions can be observed in patients with myeloma. A 48-year-old woman was admitted to our hospital because of acute renal failure. The patient had been well until a few weeks earlier, when she experienced severe headaches. During the next week, she began to have general ache, became increasingly irritable, and began to have pain on both lower legs. After admission, her serum creatinine had increased up to 4.02 mg/dL, her anemia was more aggravated, and her 24 hour urine protein was 2.4 g. She had a monoclonal spike in her urine protein elctrophoresis. Her bone marrow was infiltrated by over 30% plasma cells, so she received hemodialysis and chemotherapy.
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Injúria Renal Aguda , Anemia , Medula Óssea , Creatinina , Cefaleia , Perna (Membro) , Mieloma Múltiplo , Nefrite Intersticial , Néfrons , Plasmócitos , Diálise RenalRESUMO
Trisomy 19 is frequently encountered in cases of chronic myeloid leukemia (CML) as a secondary abnormality: however, trisomy 19 rarely occurs as a sole chromosomal abnormality and, to date, it has only been reported in 48 hematopoietic malignancies, 1 case of adenocarcinoma and 1 case of astrocytic tumor. Here, we report two additional cases of trisomy 19 as a sole karyotypic aberration in myeloid malignancies. One of these cases involved a 6-month-old male who was diagnosed with acute myeloid leukemia minimally differentiated. His karyotype was 47,XY,+19[20]. He expired 5 days after diagnosis. Another case occurred in an 80-yr-old female who had refractory anemia with excess blasts. Her karyotype was 47,XX,+19[16]/46,XX[4]. Four months later, her peripheral blood smears suggested that the disease had progressed, but she refused further evaluation. Based on a review of the existing literature and the results of this report, trisomy 19 not only as a secondary abnormality but also as a sole karyotypic aberration is strongly associated with myeloid disorder; however, it is not preferentially found in specific FAB subgroups of myelodysplasic syndrome or acute myeloid leukemia.
Assuntos
Idoso de 80 Anos ou mais , Feminino , Humanos , Lactente , Masculino , Doença Aguda , Anemia Refratária/diagnóstico , Cromossomos Humanos Par 19 , Cariotipagem , Leucemia Mieloide/diagnóstico , TrissomiaRESUMO
Waldenstrom's macroglobulinemia is an uncommon low-grade B-cell lymphoproliferative disorder in which monoclonal immunoglobulin M is produced. Neurological symptoms due to hyperviscosity are frequent manifestations of Waldenstrom's macroglobulinemia. However, central nervous system infiltration by plasmacytoid lymphocytes (Bing-Neel syndrome) has only rarely been reported. We report a case of a 51-yr-old woman suffering from Waldenstrom's macroglobulinemia who complained of persistant headache. Brain magnetic resonance imaging revealed an extra-axial soft tissue mass along the left cavernous sinus, left tentorium, right tentorium, and falx cerebri. A stereotactic biopsy of dural tissue from the falx was performed and showed plasmacytoid lymphocyte infiltration. The patient became symptom- free with irradiation of the whole brain followed by chemotherapy with fludarabine.
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Anticorpos Monoclonais/uso terapêutico , Encéfalo/patologia , Doenças do Sistema Nervoso Central/etiologia , Irradiação Craniana , Síndrome , Vidarabina/análogos & derivados , Macroglobulinemia de Waldenstrom/complicaçõesRESUMO
According to the World Health Organization (WHO) classification system, cases with t(8;21)(q22;q22) should be diagnosed as acute myeloid leukemia (AML) even with a blast count of less than 20 percent in blood or bone marrow. It is an uncommon manifestation, moreover hypocellularity is rarely observed in this subtype of leukemia. Here, we report a case of t(8;21) in a patient with marked hypocellularity of less than 5 percent and a blast count of less than 20 percent. This patient responded relatively well to chemotherapy. An allogeneic bone marrow transplantation was performed with good engraftment . This case suggests that hypocellular AML with a t(8;21) has as good a prognosis as hypercellular AML with t(8;21).
Assuntos
Humanos , Medula Óssea , Transplante de Medula Óssea , Classificação , Tratamento Farmacológico , Leucemia , Leucemia Mieloide Aguda , Prognóstico , Organização Mundial da SaúdeRESUMO
BACKGROUND: The aim of this study was to investigate the prevalence, clinical and laboratory findings of hereditary hemolytic anemia (HHA) in Korea from 1997 to 2006 and to develop the appropriate diagnostic approach for HHA. METHODS: By the use of questionnaires, information on the clinical and laboratory findings ofHHA diagnosed from 1997 to 2006 in Korea was collected and analyzed retrospectively. A total of 431 cases were enrolled in this study from 46 departments of 35 hospitals. RESULTS: The overall frequency of HHA did not change through the 10-year period for pediatrics but did show an increasing tendency for internal medicine. The overall male to female sex ratio did not show sex predominance (1.17:1), but a significant male predominance with a ratio of 1.49:1 was seen for pediatrics while a significant female predominance with a ratio of 1:1.97 was seen forinternal medicine. Of the total cases, 74.2% (282/431) were diagnosed before the age of 15 years. The etiologies of HHA were classified as red cell membrane defects, hemoglobinopathies, red cell enzyme deficiencies and unknown causes. There were 382 cases (88.6%) of red cell membrane defects with 376 cases (87.2%) of hereditary spherocytosis and 6 cases (1.4%) of hereditary elliptocytosis, 20 cases (4.6%) of hemoglobinopathies with 18 cases (4.2%) of beta-thalassemia, a case (0.2%) of alpha-thalassemia and a case (0.2%) of Hemoglobin Madrid, 7 cases (1.6%) of red cell enzyme deficiencies with 5 cases (1.2%) of glucose-6- phosphate dehydrogenase (G-6-PD) deficiency, a case (0.2%) of pyruvate kinase (PK) deficiency and a case (0.2%) of enolase deficiency, and 22 cases (5.1%) of unknown causes. The most common chief complaint in pediatric patients was pallor and that in adult patients was jaundice. In the red cell membrane defect group of patients, the level of hemoglobin was significantly higher than in adult patients. The mean corpuscular volume, mean corpuscular hemoglobin, corrected reticulocyte count, total and indirect bilirubin level and lactate dehydrogenase levels in the hemoglobinopathy group of patients were significantly lower than the values in the red cell membrane defect group of patients. The mean concentration of G-6-PD was 0.8+/-0.7U/1012RBC in the G-6-PD deficient patients, PK was 1.7U/1010 RBC in the PK deficient patient, and the level of enolase was 0.04U/g of Hb in the enolase deficient patient. CONCLUSION: The most prevalent cause of HHA in Korea during 1997 to 2006 was hereditary spherocytosis, but HHA by other causes such as hemoglobinopathy and red cell enzyme deficiency gradually increased with the development of molecular diagnostic methods and increasing general interest. However, the etiologies of HHA need to be pursued further in 5.1% of the patients. An systematic standard diagnostic approach is needed in a nationwide prospective study for correct diagnoses and appropriate management of HHA.
Assuntos
Adulto , Feminino , Humanos , Masculino , Talassemia alfa , Anemia Hemolítica Congênita , Talassemia beta , Bilirrubina , Membrana Celular , Diagnóstico , Eliptocitose Hereditária , Índices de Eritrócitos , Hemoglobinopatias , Medicina Interna , Icterícia , Coreia (Geográfico) , L-Lactato Desidrogenase , Oxirredutases , Palidez , Patologia Molecular , Pediatria , Fosfopiruvato Hidratase , Prevalência , Piruvato Quinase , Contagem de Reticulócitos , Estudos Retrospectivos , Razão de Masculinidade , Inquéritos e QuestionáriosRESUMO
BACKGROUND: For an optimum treatment of infections, appropriate antimicrobials should be selected according to the results of antibiotic susceptibility test (AST). However, the present AST does not take into account of antimicrobial concentrations in tissues, although different tissues have different distribution of antimicrobials. Thereby we intended to evaluate the usefulness of interpreting antimicrobial susceptibility depending on tissue concentrations of antimicrobials. METHODS: Gram-negative bacilli isolated from clinical specimens at Yeungnam University Hospital during the period from January to July, 2006 were evaluated retrospectively. The data on blood concentration, half life and tissue distribution of antimicrobials with variable administration route and dosage were collected and arranged in the forms of previous reports. The diameters of the zone of inhibition from the disc diffusion method were converted to minimum inhibitory concentration (MIC) and the organism was regarded as resistant if the converted concentration was higher than the expected concentration in the tissue. RESULTS: Among the data reported as susceptible, antimicrobial concentrations in peritoneal fluid and bile showed a relatively good relationship with AST. But, aminoglycosides and carbenicllin concentrations in wounds and respiratory tissues were shown to be inadequate, thus resulting in a low bacteriologic cure. In cerebrospinal fluid, ciprofloxacin was less effective regardless of dosage. CONCLUSION: Antimicrobial concentration is variable in different tissues and more information on antimicrobial tissue distribution is needed for the appropriate treatment of infections. Reporting of MIC rather than AST with breakpoints should be considered for selection of antimicrobials. Therefore, an interpretation of AST in consideration of the tissue concentration would be more helpful for prevention of major errors and control of infections.
Assuntos
Aminoglicosídeos , Líquido Ascítico , Bile , Líquido Cefalorraquidiano , Ciprofloxacina , Difusão , Meia-Vida , Testes de Sensibilidade Microbiana , Estudos Retrospectivos , Distribuição Tecidual , Ferimentos e LesõesRESUMO
TNF-alpha mediated apoptosis of the hematopoietic cells has been thought to contribute to the ineffective hematopoiesis observed in myelodysplastic syndrome (MDS). The combination of pentoxifylline (P) and ciprofloxacin (C) has been shown to reduce the serum levels of TNF-alpha, and an earlier trial of P and C with dexamethasone (D) provided good palliation for patients with MDS. The purpose of this study is to assess the hematologic response to PCD therapy for patients suffering with MDS. 21 of 25 patients who completed at least of 12 weeks of treatment were evaluable for the treatment efficacy. At baseline, the patient's median age was 60 yr (range: 18-75 yr). The diagnoses according to WHO classification included: RA (n=5), RCMD (n=10), RARS (n=1), RCMD/RS (n=1), RAEB (3), and CMML (n=1). 11 patients (52%) had at least single lineage response. 3 patients (11%) showed improvement of triple lineage cytopenia. There were no differences in the response rates between the FAB subtypes. The median time to response was 4 weeks (range: 2-12 weeks), and it is interesting that 9 of 11 patients who had a response remained without relapse for a median of 177 days (range: 78-634 days). These preliminary results indicate that anti-cytokine therapy with PCD is an effective and well tolerated palliative treatment for patients with MDS.
Assuntos
Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Anti-Infecciosos/efeitos adversos , Anti-Inflamatórios/efeitos adversos , Apoptose/efeitos dos fármacos , Ciprofloxacina/efeitos adversos , Estudo Comparativo , Dexametasona/efeitos adversos , Quimioterapia Combinada , Contagem de Eritrócitos , Fármacos Hematológicos/efeitos adversos , Síndromes Mielodisplásicas/sangue , Náusea/induzido quimicamente , Pentoxifilina/efeitos adversos , Contagem de Plaquetas , Fatores de Tempo , Resultado do Tratamento , Fator de Necrose Tumoral alfa/metabolismoRESUMO
Pernicious anemia is the frequent cause of megaloblastic anemia, and it is the result of a vitamin B12 deficiency due to the decrease or absence of intrinsic factor (IF) because of gastric mucosa atrophy or autoimmune destruction of IF-producing parietal cells. With the existence of a severe gastric atrophy, there is a decreased in acid and IF production and a further change in vitamin B12 absorption. Mercury is ubiquitous in nature and exists in 3 forms, elemental mercury, inorganic salts and organic compounds. Organic forms, specifically methyl mercury, are the most toxic of the 3 classes of mercurials. Methyl mercury exerts its most devastating effect on the central nervous system by causing psychiatric disturbances, ataxia, visual loss, hearing loss, and neuropathy. We report a case of mercury intoxication associated with pernicious anemia. The 77 years old patient was referred to Yeungnam University Hospital for tongue pain, somatitis, headache and aggressive behavior. He had taken an unevaluated medicine for a long time. After clinical evaluation, this case was diagnosed as a pernicious anemia and the unevaluated medicine was made up of mercury. After the administration of D-penicillamine and intramuscular injection of BAL and cobalamine, clinical symptoms and aggressive behavior were improved as well as laboratory findings.
Assuntos
Idoso , Humanos , Absorção , Anemia Megaloblástica , Anemia Perniciosa , Ataxia , Atrofia , Sistema Nervoso Central , Mucosa Gástrica , Cefaleia , Perda Auditiva , Injeções Intramusculares , Fator Intrínseco , Penicilamina , Rabeprazol , Sais , Língua , Vitamina B 12 , Deficiência de Vitamina B 12RESUMO
Jumping translocation (JT) has been defined as the translocation involving one donor chromosome and multiple recipient chromosomes in different cell lines in the same patient. This is rarely observed in various hematologic malignancies. Chronic idiopathic myelofibrosis (CIMF) is considered to be a clonal hematopoietic stem cell disorder, and clonal cytogenetic abnormalities have been reported to occur in about 30~60% of patients. We report here on a case of CIMF with JT involving 12q21; t(5;12)(q13;q21) and t(12;12)(p13;q21) as the sole aberration. A pathogenetic relation between CIMF and the 12q rearrangement has been suggested in the literature, but neither the JT in CIMF nor the JT of 12q21 has been reported on. This is the first report of JT involving 12q21 in a patient with CIMF (ED note: nice writing).
Assuntos
Humanos , Linhagem Celular , Aberrações Cromossômicas , Neoplasias Hematológicas , Células-Tronco Hematopoéticas , Mielofibrose Primária , Doadores de TecidosRESUMO
Triplication of 1q is a very rare chromosomal abnormality in hematologic malignancies, and it has been related to Fanconi anemia. The clinical significance of this abnormality is unknown. We report here on a 55-year-old female patient who had myelodysplastic syndrome (refractory anemia with excess blasts) with triplication of 1q and trisomy 8 as the clonal cytogenetic abnormalities, as determined by bone marrow cytogenetic analysis. However, there were no clinical manifestations of Fanconi anemia or any chromosomal instability according to the peripheral blood chromosomal breakage testing. The patient developed early gastric carcinoma (poorly differentiated adenocarcinoma with a signet ring cell component) eight months later. She continuously had pancytopenia with dysplastic features, but this showed no evidence of evolving to leukemia or any relapse of the gastric carcinoma over a 2 year follow up.