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4.
BMJ Case Rep ; 20182018 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-29545424

RESUMO

A 70-year-old man visited our emergency department, whose laboratory test results revealed leucocytosis, anaemia, thrombocytopenia and high levels of serum lactate dehydrogenase. In addition, the peripheral blood smear revealed neutrophilic granulocytes with nuclear hypolobation (pseudo-Pelger-Hüet anomaly), hypogranulation and no myeloperoxidase reactivity. Genetic testing of the peripheral blood sample was as follows: G-band, 46XY,t(9;22)(q34;q11.2) (20/20); fluorescence in situ hybridisation BCR/ABL fusion signal, 97%; and analysis of exons 5-9 of the p53 gene, mutation (Pro72Arg) in exon 4 protein. On the basis of these findings, the patient was diagnosed with chronic myelogenous leukaemia (CML) in chronic phase with a p53 mutation and treated with hydroxyurea, dasatinib and nilotinib. Neutrophilic granulocytes with the anomalies were no longer observed after achieving cytogenetic remission. To the best of our knowledge, this is the first report of CML case with the anomalies, in which a p53 mutation without chromosome 17 abnormalities was identified.


Assuntos
Granulócitos/patologia , Leucemia Mielogênica Crônica BCR-ABL Positiva/diagnóstico , Anomalia de Pelger-Huët/diagnóstico , Idoso , Diagnóstico Diferencial , Humanos , Hibridização in Situ Fluorescente , Leucemia Mielogênica Crônica BCR-ABL Positiva/sangue , Leucemia Mielogênica Crônica BCR-ABL Positiva/complicações , Masculino , Anomalia de Pelger-Huët/sangue , Anomalia de Pelger-Huët/complicações
5.
Health Phys ; 112(3): 252-257, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-28121725

RESUMO

Using archival peripheral blood slides obtained from patients in the 1958 Y-12 criticality accident, the authors have recently described the pseudo-Pelger Huët anomaly (PHA) in neutrophils as a new radiation-induced biomarker. The current work provides additional evidence that PHA is also a permanent biomarker, potentially useful in retrospective dosimetry. In the Y-12 cohort, the high dose group (n = 5, 2.98-4.61 Gy-Eq) exhibited 13.0 ± 0.85 % Pelger Huët cells (mean ± SEM) in the neutrophil population compared to 6.8 ± 1.6 % in the low dose group (n = 3, 0.29-0.86 Gy-Eq; p = 0.008). An age and gender-matched control group (n = 8) exhibited 3.6 ± 0.9 % PH cells. Results of a one-way ANOVA show that the high dose group is statistically different from both the low dose group and the control group (p = 0.002). In the Y-12 cohort, PHA appears <12 h post-accident and is permanent for more than 16 y. Similar long-term persistence of the PHA mutation has been obtained from examination of peripheral blood slides from the 1971 Co accident at the Variable Dose Rate Irradiation Facility (VDRIF) in Oak Ridge, TN. In order to investigate the pseudo-PH cell as a biomarker in animal studies under well controlled dosimetry, peripheral blood slides were obtained from animals in a nonhuman primate (NHP) (Macaca mulatta) total-body irradiation (TBI) model (Co γ rays at 0.6 Gy min; dose range 1-8.5 Gy, LD50/60 6.44 Gy). In the NHP studies, the first measurement of PHA is taken at 5 h post-irradiation, then daily for days 1-5 and every 5-10 d thereafter. In the TBI model, the PH cell appears quickly (<5 h) post-irradiation, and the dose-dependent PH percentage is constant from 1 d over the 60-d monitoring period of the experiments. Using the average of data from 1-60 d, a linear dose response (PHA % slope = 0.49 ± 0.07 % Gy, r = 0.92) is obtained over the dose range 0-8.5 Gy. The authors conclude that ionizing radiation induces dose-dependent internuclear bridges in circulating neutrophils, and this morphological change can be used both as an acute phase biomarker and as a tool for retrospective dosimetry.


Assuntos
Bioensaio/métodos , Biomarcadores/sangue , Neutrófilos/patologia , Anomalia de Pelger-Huët/sangue , Exposição à Radiação/análise , Monitoramento de Radiação/métodos , Adulto , Feminino , Humanos , Masculino , Anomalia de Pelger-Huët/etiologia , Anomalia de Pelger-Huët/patologia , Exposição à Radiação/efeitos adversos , Liberação Nociva de Radioativos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
6.
Health Phys ; 108(3): 303-7, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25627941

RESUMO

To evaluate the morphology of formed elements of human blood after exposure to ionizing radiation in vivo, archival smears of peripheral blood from eight individuals involved in the 1958 Y-12 criticality accident at Oak Ridge, Tennessee, were examined manually by light microscopy. For each case, increased interlobar bridging was observed in nuclei of the myeloid cells, many of which were bilobed and morphologically similar to Pelger Huet (PH) cells. The high-dose group (n = 5, 2.98-4.61 Gy-Eq) exhibited 13.0 ± 0.85% PH cells (mean ± SEM) in the neutrophil population compared to 6.8 ± 1.6% in the low-dose group (n = 3, 0.29-0.86 Gy-Eq; p = 0.008). An age- and gender-matched control group (n = 8) exhibited 3.6 ± 0.9% PH cells. Results of a one-way ANOVA show that the high-dose group is statistically different from both the low-dose group and the control group (p = 0.002). However, the low-dose group is not statistically different from the control group (p = 0.122). The mean number of nuclear lobes in blood neutrophils was also enumerated as a function of time after exposure and was found to be diminished, consistent with incomplete nuclear segmentation that is characteristic of the Pelger Huet anomaly (PHA). In contrast to these changes in myeloid cells, the morphology of erythrocytes and platelets appeared to be normal. The authors conclude that ionizing radiation induces abnormal morphology of circulating neutrophils, which is similar to the pseudo-PHA that is acquired in disorders such as myelodysplastic syndrome, acute myeloid leukemia, and leukemoid reactions. Potential molecular mechanisms by which radiation induces this morphological change are discussed. From this cohort, the biomarker appears to be present early post-accident (<9 h) and stable at least up to 16 y post-accident. Assessment of circulating pseudo-Pelger Huet cells is being investigated as a potential biodosimetric tool.


Assuntos
Exposição Ambiental/efeitos adversos , Anomalia de Pelger-Huët/sangue , Anomalia de Pelger-Huët/etiologia , Liberação Nociva de Radioativos , Adulto , Núcleo Celular/efeitos da radiação , Humanos , Masculino , Pessoa de Meia-Idade , Neutrófilos/patologia , Neutrófilos/efeitos da radiação , Anomalia de Pelger-Huët/patologia
7.
Vet Clin Pathol ; 43(3): 337-41, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25115222

RESUMO

A 14-year-old, spayed female Domestic Shorthair cat was referred to the Purdue University Veterinary Teaching Hospital (PUVTH) for iodine 131 treatment of hyperthyroidism. Upon arrival, a biochemistry profile and a CBC were performed. Approximately 50% of the neutrophils and all the eosinophils observed were hyposegmented with a mature, condensed chromatin pattern. Nuclei had a band to "dumbbell" shape, and rarely a round shape, suggesting a Pelger-Huët anomaly or a pseudo Pelger-Huët. Based on both a negative FeLV and FIV tests, the absence of any clinical signs to support an inflammatory process, and the persistence of this granulocytic morphology 6 months after its previous admission to the PUVTH, a diagnosis of Pelger-Huët anomaly was established in this cat.


Assuntos
Doenças do Gato/sangue , Núcleo Celular/patologia , Granulócitos/patologia , Anomalia de Pelger-Huët/veterinária , Animais , Doenças do Gato/diagnóstico , Gatos , Cromatina/patologia , Diagnóstico Diferencial , Eosinófilos/patologia , Feminino , Neutrófilos/patologia , Anomalia de Pelger-Huët/sangue , Anomalia de Pelger-Huët/diagnóstico
10.
Rev. medica electron ; 31(4)jul.-ago. 2009. ilus
Artigo em Espanhol | LILACS | ID: lil-548306

RESUMO

La anomalía de Pelger Hüet fue descrita inicialmente en 1928 por el médico holandés Pelger y su origen genético fue descubierto más tarde por el pediatra Hüet. Se transmite con un carácter autosómico dominante y consiste en una mutación del gen que codifica el receptor de la lámina B. A partir de esta mutación se producen alteraciones en el núcleo de los leucocitos, fundamentalmente en los neutrófilos, con afectación de la segmentación nuclear y trastornos en la cromatina. Presentamos a un paciente que fue ingresado en el hospital por una mordedura de animal y se describió en la lámina periférica la presencia de neutrófilos hipolobulados. El carácter familiar se confirmó por el hallazgo de esta alteración en la madre del paciente.


The Pelger-Hüet anomaly was described firstly in 1928 by the Holland physician Pelger and its genetic origin was discovered later by the pediatrician Hüet. It is transmitted with a dominant autosomal character and it is a mutation of the gene codifying the plate B receptor. Beginning from this mutation, the alteration of white cells core took place, mainly in neutrophils, with affectations of the nuclear segmentation and chromatin disturbances. We present a patient entering our hospital as a cause of an animal bite, and there were discovered hypolobulated neutrophils in the periferal plate. The familiar character was confirmed with the finding of this alteration in the patient's mother.


Assuntos
Humanos , Criança , Anomalia de Pelger-Huët/diagnóstico , Anomalia de Pelger-Huët/genética , Anomalia de Pelger-Huët/sangue , Relatos de Casos
11.
Rev. medica electron ; 31(4)jul.-ago. 2009. ilus
Artigo em Espanhol | CUMED | ID: cum-41382

RESUMO

La anomalía de Pelger Hüet fue descrita inicialmente en 1928 por el médico holandés Pelger y su origen genético fue descubierto más tarde por el pediatra Hüet. Se transmite con un carácter autosómico dominante y consiste en una mutación del gen que codifica el receptor de la lámina B. A partir de esta mutación se producen alteraciones en el núcleo de los leucocitos, fundamentalmente en los neutrófilos, con afectación de la segmentación nuclear y trastornos en la cromatina. Presentamos a un paciente que fue ingresado en el hospital por una mordedura de animal y se describió en la lámina periférica la presencia de neutrófilos hipolobulados. El carácter familiar se confirmó por el hallazgo de esta alteración en la madre del paciente(AU)


The Pelger-Hüet anomaly was described firstly in 1928 by the Holland physician Pelger and its genetic origin was discovered later by the pediatrician Hüet. It is transmitted with a dominant autosomal character and it is a mutation of the gene codifying the plate B receptor. Beginning from this mutation, the alteration of white cells core took place, mainly in neutrophils, with affectations of the nuclear segmentation and chromatin disturbances. We present a patient entering our hospital as a cause of an animal bite, and there were discovered hypolobulated neutrophils in the periferal plate. The familiar character was confirmed with the finding of this alteration in the patient's mother(AU)


Assuntos
Humanos , Criança , Anomalia de Pelger-Huët/sangue , Anomalia de Pelger-Huët/diagnóstico , Anomalia de Pelger-Huët/genética , Relatos de Casos
12.
Acta Haematol ; 121(4): 202-6, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19468205

RESUMO

Pelger-Huët anomaly (PHA), an autosomal dominant haematological trait is characterised by neutrophil nuclear hypolobulation and modified chromatin distribution. Mutations in the lamin B receptor gene, a member of the sterol reductase family have been identified as the underlying cause. Due to its asymptomatic nature or lack of observer familiarity, PHA is often overlooked. In this review, we give an overview of the main pathophysiological, clinical, morphological and functional aspects of PHA. Furthermore, we highlight the importance of a comprehensive approach to the assessment of this laminopathy.


Assuntos
Anomalia de Pelger-Huët , Animais , Cromatina/ultraestrutura , Diagnóstico Diferencial , Modelos Animais de Doenças , Feminino , Efeito Fundador , Genes Dominantes , Humanos , Leucemia/diagnóstico , Masculino , Mamíferos/genética , Camundongos , Síndromes Mielodisplásicas/diagnóstico , Países Baixos/epidemiologia , Neutrófilos/ultraestrutura , Anomalia de Pelger-Huët/sangue , Anomalia de Pelger-Huët/diagnóstico , Anomalia de Pelger-Huët/epidemiologia , Anomalia de Pelger-Huët/genética , Anomalia de Pelger-Huët/fisiopatologia , Receptores Citoplasmáticos e Nucleares/deficiência , Receptores Citoplasmáticos e Nucleares/genética , Receptores Citoplasmáticos e Nucleares/fisiologia , Sintenia , Receptor de Lamina B
13.
Am J Hematol ; 84(2): 116-9, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19021122

RESUMO

The unique historical aspects of Pelger and Huet's discovery of the Pelger-Huet cell highlight the diagnostic challenge that this morphologic finding presents to the physician. Making the diagnosis of the benign autosomal dominant anomaly is complicated by the morphologically similar pseudo-Pelger-Huet cell, which can signify underlying myeloid dsyplasia. This article relates the history of the Pelger-Huet anomaly as well as describes the clinical significance and diagnostic workup for the finding of a Pelger-Huet cell on peripheral smear.


Assuntos
Neutrófilos/patologia , Anomalia de Pelger-Huët , Animais , Núcleo Celular/ultraestrutura , Criança , Diagnóstico Diferencial , Eosinófilos/patologia , Feminino , Morte Fetal/genética , Genes Dominantes , História do Século XX , Humanos , Infecções/sangue , Leucemia Mieloide/sangue , Leucemia Mieloide/diagnóstico , Síndromes Mielodisplásicas/sangue , Síndromes Mielodisplásicas/diagnóstico , Países Baixos , Linhagem , Anomalia de Pelger-Huët/sangue , Anomalia de Pelger-Huët/diagnóstico , Anomalia de Pelger-Huët/genética , Anomalia de Pelger-Huët/história , Receptores Citoplasmáticos e Nucleares/deficiência , Receptores Citoplasmáticos e Nucleares/genética , Receptor de Lamina B
14.
Indian J Pathol Microbiol ; 50(3): 661-2, 2007 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-17883176

RESUMO

Impaired lobulation of neutrophils together with exaggerated clumping of chromatin, characteristic of Pelger-Huet anomaly was seen as an incidentalfinding in a 43-year old man who presented with depression. Peripheral blood and bone marrow findings and cytochemistry of the abnormal cells are described and the disease entity discussed.


Assuntos
Anomalia de Pelger-Huët/patologia , Adulto , Exame de Medula Óssea , Humanos , Masculino , Neutrófilos/patologia , Anomalia de Pelger-Huët/sangue
15.
J Perinatol ; 26(6): 378-80, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16724080

RESUMO

We present a full-term male infant who presented with tachypnea and an increased band count on his complete blood count (CBC) with an immature to total neutrophil (I:T) ratio of 0.6 raising suspicion of early onset sepsis. A blood culture was drawn and he was started on appropriate antibiotics. The patient's clinical condition rapidly improved; however, the white cell count 'left shift' persisted. When a detailed family history was obtained, it was discovered that the father, paternal uncle and the grandfather had been diagnosed with Pelger-Huet anomaly (PHA). As the urine, blood and CSF cultures were all negative in this now well-appearing infant, the left shift on the CBC was believed to be due to inheritance of the PHA. We present this case to emphasize that even in this age of sophisticated laboratory evaluation, a good clinical history, including family history, and clinical evaluation, are essential for accurate diagnosis.


Assuntos
Contagem de Leucócitos , Neutrófilos/patologia , Anomalia de Pelger-Huët/diagnóstico , Sepse/diagnóstico , Erros de Diagnóstico , Humanos , Recém-Nascido , Masculino , Neutrófilos/ultraestrutura , Anomalia de Pelger-Huët/sangue , Anomalia de Pelger-Huët/genética
16.
Rinsho Byori ; 53(1): 54-60, 2005 Jan.
Artigo em Japonês | MEDLINE | ID: mdl-15724491

RESUMO

Gene abnormalities responsible for familial Pelger-Huet anomaly have been recently discovered. Abnormalities in sequence of Lamin B Receptor(LBR) gene results in a lack of LBR protein that is essential for chromatin-binding to nuclear membrane. In neutrophils lacking LBR protein shows abnormal bilobular or monolobular nuclear forms and hyper-condensed chromatin-aggregation. We re-analyzed distribution of such Pelger-Huet anomaly in other cell lineages; we found that not only neutrophils but erythroblasts, monocytes, lymphocytes, plasma cells, eosinophils and basophils are also carrying chromatin-hypercondensation. One third of megakaryocytes are also binucleated like neutrophils. We compared neutrophil morphology between familial Pelger-Huet anomaly and so called pseudo-Pelger-Huet anomaly observed in patients with myelodysplastic syndromes(MDS) and acute myeloid leukemia(AML). The neutrophils in MDS were much similar to those of the familial anomaly, but neutrophils of AML, such as t (8;21) M2-AML and t (15;17) M3-AML, showed more heterogeneous pattern in lobulation and chromatin-hypercondensation. Especially in M3, differentiation-induction by all-trans retinoic acid induced a marked neutrophilia with pseudo-Pelger-Huet anomaly without chromatin-hypercondensation. Lack of LBR protein in familial Pelger-Huet anomaly results in hypolobulation and chromatin-hypercondensation in neutrophils, but in other cells such as erythroblasts and lymphocytes only chromatin-hypercondensation can be observed. In contrast pseudo-Pelger-Huet anomaly are more heterogeneous in morphology compared to the familial anomaly. The lack of leukemic or MDS transformation in the familial anomaly is a sharp contrast to the neoplastic nature of the pseudo-Pelger-Huet anomaly. In conclusion, our morphological recognition of certain abnormality of cells shows an marked progression when genetic abnormality responsible for some of them are discovered, and often make us recognize a further heterogeneity in them. We, hematologists and technicians, must be well prepared to report our own observation of an un-explained morphological abnormality.


Assuntos
Núcleo Celular/genética , Núcleo Celular/patologia , Neutrófilos/citologia , Neutrófilos/patologia , Anomalia de Pelger-Huët/sangue , Anomalia de Pelger-Huët/genética , Sequência de Bases , Cromatina/metabolismo , Montagem e Desmontagem da Cromatina , Humanos , Lamina Tipo B/deficiência , Leucemia Mieloide Aguda/sangue , Mutação , Síndromes Mielodisplásicas/sangue , Receptores Citoplasmáticos e Nucleares/genética , Receptor de Lamina B
17.
Leuk Res ; 28(6): 651-5, 2004 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15120944

RESUMO

Myelodysplasia associated with a complex karyotype is usually associated with advanced stage myelodysplastic syndrome (MDS) and an enhanced risk to develop secondary leukemia. We report on a 36-year-old female patient who was first presented in 1997 because of 'Pseudo Pelger-Huet' neutrophils. The remaining blood and differential counts were normal. Bone marrow examination revealed dysplasia in the erythroid and granulocytic series, no increase in blasts, and a karyotype with complex aberrations involving chromosomes 7, 13, 20 and 22. Almost all metaphases examined appeared to be affected. During the next few months, the patient was closely monitored and considered as candidate for bone marrow transplantation. However, blood counts remained stable without occurrence of significant cytopenias or an increase in blasts. Re-examinations of the bone marrow in 1998 and 1999 disclosed identical results compared to that obtained in 1997. After a total follow up of 6 years, the patient is still in good health with normal blood counts and persisting 'Pseudo Pelger-Huet' neutrophils. This exceptional case supports the notion that complex chromosomes are not invariably associated with rapid disease evolution in MDS.


Assuntos
Medula Óssea/fisiologia , Aberrações Cromossômicas , Síndromes Mielodisplásicas/etiologia , Anomalia de Pelger-Huët/complicações , Adulto , Células Eritroides/patologia , Feminino , Granulócitos/patologia , Hematopoese , Humanos , Cariotipagem , Síndromes Mielodisplásicas/sangue , Síndromes Mielodisplásicas/patologia , Neutrófilos/patologia , Anomalia de Pelger-Huët/sangue , Anomalia de Pelger-Huët/patologia
19.
Physiol Chem Phys Med NMR ; 31(2): 77-84, 1999.
Artigo em Inglês | MEDLINE | ID: mdl-10816760

RESUMO

Nuclear breakdown leading to the formation of apoptotic bodies has been postulated to involve degradation of nuclear structural proteins, such as lamins A/C and B. Although nuclear segmentation occurs during the maturation of polymorphonuclear leukocytes (neutrophils), its mechanism is not known. We found that human neutrophils have lamin B but lack lamins A/C while mononuclear cells possess all three types of lamin as assessed by immunoblotting. Differentiation of human promyelocytic HL-60 cells into neutrophil-like cells was also accompanied by the down-regulation of lamins A/C but not of lamin B. Moreover, when compared with normal cells, neutrophils with the Pelger-Huët anomaly of nuclear hyposegmentation exhibited significantly lower activity of caspase-6, a lamin A/C-cleaving enzyme. Differentiated HL-60 cells showed higher activity of caspase-6 than that of untreated cells. These observations allow us to speculate that remodeling of nuclear lamins might underlie the mechanism for nuclear segmentation of neutrophils.


Assuntos
Núcleo Celular/fisiologia , Núcleo Celular/ultraestrutura , Neutrófilos/fisiologia , Proteínas Nucleares/metabolismo , Apoptose/efeitos dos fármacos , Apoptose/fisiologia , Caspase 6 , Caspases/metabolismo , Diferenciação Celular , Células HL-60 , Humanos , Peróxido de Hidrogênio/farmacologia , Lamina Tipo A , Lamina Tipo B , Laminas , Neutrófilos/citologia , Neutrófilos/ultraestrutura , Anomalia de Pelger-Huët/sangue , Tretinoína/farmacologia
20.
Cancer Genet Cytogenet ; 90(2): 166-70, 1996 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-8830728

RESUMO

Previous reports suggested a correlation between the deletion of the terminal region of the short arm of a chromosome 17 and the appearance of dysgranulopoiesis in myeloproliferative disorders. Using the dual-color fluorescence in situ hybridization technique we analyzed the bone marrow and peripheral blood cells of a Philadelphia chromosome-positive chronic myeloid leukemia (CML) patient showing at the onset of transformation into blastic crisis both metaphases with the i(17q) as well as granulocytes without nuclear segmentation. This phenomenon is defined as pseudo-Pelger-Huët anomaly. Using two probes, one specific for 17p and one for 17q, we determined the presence or absence of the i(17q) in both metaphase and interphase cells. Moreover, we observed that all cells with a polysegmented nucleus typical of mature granulocytes did not have i(17q) but had two normal chromosomes 17. This observation confirmed the correlation between 17p deletion and the appearance of pseudo-Pelger anomaly. This finding may also be useful from a clinical point of view: the appearance of pseudo-Pelger cells in CML indicates that 17p deletion actually occurred. This event implies a negative prognosis.


Assuntos
Núcleo Celular/patologia , Cromossomos Humanos Par 17 , Granulócitos/patologia , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Anomalia de Pelger-Huët/genética , Cromossomo Filadélfia , Crise Blástica , Bandeamento Cromossômico , Mapeamento Cromossômico , Humanos , Hibridização in Situ Fluorescente , Leucemia Mielogênica Crônica BCR-ABL Positiva/sangue , Leucemia Mielogênica Crônica BCR-ABL Positiva/patologia , Masculino , Pessoa de Meia-Idade , Anomalia de Pelger-Huët/sangue , Anomalia de Pelger-Huët/patologia
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