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1.
Pathologe ; 34 Suppl 2: 201-9, 2013 Nov.
Article in German | MEDLINE | ID: mdl-24196613

ABSTRACT

BACKGROUND: Besides essential thrombocythemia (ET), polycythemia vera (PV) and primary myelofibrosis (PMF) the myeloproliferative neoplasms (MPN) defined by the World Health Organization (WHO) comprise the entity of unclassifiable MPNs (MPN, U). The exact differential diagnosis of the specific MPN entities can be challenging particularly at early stages of the diseases. So far, pathologists have had to rely only on histomorphological evaluation of bone marrow biopsies in combination with laboratory data because helpful ancillary tests are not yet available. Even molecular tests, such as JAK2 mutation analysis are not helpful particularly in the differential diagnosis of ET and PMF because both entities are associated with the V617F mutation in 50 % of the cases. Recently overexpression of the transcription factor NF-E2 in MPN was described. MATERIALS AND METHODS: A collective of samples consisting of 163 bone marrow biopsies including 139 MPN cases was stained immunohistochemically for NF-E2 and analyzed regarding the subcellular localization of NF-E2 in erythroid progenitor cells. The results were compared between the MPN entities as well as the controls and statistical analyses were conducted. RESULTS AND DISCUSSION: This study showed that NF-E2 immunohistochemistry and analysis of the proportion of nuclear positive erythroblasts of all erythroid precursor cells can help to distinguish between ET and PMF even in early stages of the diseases. An MPN, U case showing a proportion of more than 20 % nuclear positive erythroblasts can be classified as a PMF with 92 % accuracy.


Subject(s)
Awards and Prizes , Bone Marrow/pathology , NF-E2 Transcription Factor, p45 Subunit/analysis , NF-E2 Transcription Factor, p45 Subunit/genetics , Primary Myelofibrosis/genetics , Primary Myelofibrosis/pathology , Thrombocythemia, Essential/genetics , Thrombocythemia, Essential/pathology , Alleles , Biopsy , DNA Mutational Analysis , Diagnosis, Differential , Erythroid Precursor Cells/pathology , Erythropoiesis/genetics , Gene Expression Regulation, Neoplastic/genetics , Humans , Leukocyte Count , Megakaryocytes/pathology , Platelet Count , Polycythemia Vera/genetics , Polycythemia Vera/pathology , Reference Values , Thrombocytosis/genetics , Thrombocytosis/pathology
2.
An Esp Pediatr ; 8 Suppl 1: 47-58, 1975 Jun.
Article in Spanish | MEDLINE | ID: mdl-1155875

ABSTRACT

Psychomotor follow up study of a group of low weight newborn infants, with ages in between seven months and three years. The most important perinatal data registered in the records of each baby were studied in relation with the neurological examination and electroencephalogram. The incidence of pathological perinatal factors were studied in relation with latter development, as well as with the group incidence of neuroevolutive and electroencephalogram abnormalities. The great interest of this type of study as well as the convenience of been undertaken by a real paediatrical and neurological team, so to be able to obtain best results, and improve our knowledges on this subject, remarking the importance of perinatal factors and the possible influence of these, on latter neurological maturation of the infant, as well as the ned of establishing a correct ethiological diagnosis of certain type of subnormalities and their prevention is commented.


Subject(s)
Nervous System Diseases/etiology , Birth Weight , Child, Preschool , Electroencephalography , Female , Follow-Up Studies , Gestational Age , Humans , Infant , Infant, Newborn , Infant, Premature , Labor Presentation , Maternal Age , Motor Activity , Nervous System Diseases/epidemiology , Neurologic Examination , Obstetric Labor Complications/complications , Pregnancy , Psychomotor Disorders/epidemiology , Psychomotor Disorders/etiology , Sex Factors , Socioeconomic Factors , Spain
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