RESUMEN
A new abnormal hemoglobin was detected in a young German anemic patient by cation-exchange high performance liquid chromatography (HPLC). Using a combination of electrospray mass spectrometry, HPLC, direct sequencing, and family screening with polymerase chain reaction/restriction digestion approach, we have characterized this hemoglobin variant as resulting from a Thr --> Ala replacement at beta84(EF8). It could be separated neither by electrophoresis nor by isoelectric focusing. Hb Saale is slightly unstable, exhibiting a moderate tendency to auto-oxidize. Functional properties and the heterotropic interactions are similar to those of Hb A.
Asunto(s)
Variación Genética , Hemoglobinas Anormales/química , Hemoglobinas Anormales/genética , Adulto , Secuencia de Aminoácidos , Sustitución de Aminoácidos , Niño , Preescolar , Cromatografía Líquida de Alta Presión , Femenino , Alemania , Hemoglobina A/química , Humanos , Masculino , Espectrometría de Masas , Persona de Mediana Edad , Modelos Moleculares , Datos de Secuencia Molecular , Linaje , Fragmentos de Péptidos/química , Conformación Proteica , Estructura Secundaria de Proteína , Reacción en Cadena de la Polimerasa de Transcriptasa InversaRESUMEN
We have analyzed the hemoglobins of a young German patient with beta-thalassemia intermedia and of his immediate family and included in these studies an evaluation of possible nucleotide changes in the beta-globin genes through sequencing of amplified DNA. One chromosome of the propositus and one of his father's carried the GTG-->GGG mutation at codon 126 leading to the synthesis of Hb Dhonburi or alpha 2 beta (2)126(H4)Val-->Gly; this variant is slightly unstable and is associated with mild thalassemic features. His second chromosome and one of his mother's had the common IVS-I-5 (G-->C) mutation that leads to a rather severe beta(+)-thalassemia and the GTG-->ATG mutation at codon 18, resulting in the replacement of a valine residue by a methionine residue. This newly discovered beta-chain variant, named Hb Baden, was present for only 2-3% in both the patient and his mother. This low amount results from a decreased splicing of RNA at the donor splice-site of the first intron that is nearly completely deactivated by the IVS-I-5 (G-->C) thalassemic mutation. The chromosome with the codon 18 (GTG-->ATG) and the IVS-I-5 (G-->C) mutations has thus far been found only in this German family; analysis of 51 chromosomes from patients with the IVS-I-5 (G-->C) mutation living in different countries failed to detect the codon 18 (GTG-->ATG) change.
Asunto(s)
Codón , Hemoglobinas Anormales/genética , Heterocigoto , Talasemia beta/genética , Secuencia de Aminoácidos , Secuencia de Bases , Niño , Globinas/genética , Humanos , Masculino , Datos de Secuencia Molecular , Mutación , LinajeRESUMEN
The visual evoked potential (VEP) latency was either abnormally prolonged or absent in the involved eye of 47 patients with optic neuritis. Twenty-two of these patients with known multiple sclerosis (MS), had similar abnormalities to 25 patients with no clinical evidence of MS. Follow-up clinical assessment and VEP were done 10 to 42 (mean 22) months later in 34 patients. In 15 of 34 patients with no VEP from the involved eye during initial examination, 6 returned to normal, 8 had prolonged latencies and 1 still had no response at follow up. Of 19 patients who initially had prolonged latencies in the involved eye, 6 returned to normal, 11 had prolonged latencies and 2 had no response at follow up. The VEP is helpful in confirming the diagnosis of ON. The examination must be performed when the patient is symptomatic or soon thereafter as 35% of our patients with an abnormal initial VEP had a normal VEP at follow up. This normalization was not related to the severity of the initial VEP abnormality.
Asunto(s)
Potenciales Evocados Visuales , Esclerosis Múltiple/fisiopatología , Neuritis Óptica/fisiopatología , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/complicaciones , Neuritis Óptica/etiologíaRESUMEN
1. As compared with the peripheral blood lymphocytes of healthy subjects the cells in the mononuclear fraction of peripheral blood and in the bone marrow of children with ANLL show a significant higher S- and G2 + M-phase. 2. A high proliferative activity correlate with a bad prognosis or with reaching no haematological remission. 3. Frequently, aneuploid cell populations will occur in the morphological subtypes M 4 and M 5.
Asunto(s)
Médula Ósea/patología , ADN de Neoplasias/metabolismo , Leucemia/patología , Enfermedad Aguda , Adolescente , Aneuploidia , Niño , Preescolar , Citofotometría , Femenino , Humanos , Interfase , Leucemia Linfoide/patología , Linfocitos/patología , Masculino , PronósticoRESUMEN
The DNA-content of mononuclear cells of the peripheral blood of infantile and juvenile ALL patients was investigated using Pulse Cytophotometry. The fraction of cells in S- and G2 + M-phase is significantly increased in comparison with samples of healthy probands. The fraction of DNA-synthesising cells (S-phase) of both peripheral blood (mononuclear cells) and bone marrow of leukemia patients cannot be significantly distinguished by mathematical methods. On the other hand, the fraction of cells in later phases of cell cycle (G2 + M-phase) is significant enhanced in the bone marrow in comparison with the peripheral blood. A high correlation was found between the number of leukocytes and fraction of G2 + M-phase cells in the peripheral blood of SR- and MR-patients. No correlation was found between the number of leukocytes and S-phase-fraction. The occurrence of aneuploid cell populations in the mononuclear fraction of peripheral blood in the acute state of ALL could be of importance for prognosis and regime of therapy.
Asunto(s)
Leucemia Linfoide/patología , Linfocitos/patología , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Niño , Preescolar , Citofotometría , ADN de Neoplasias/metabolismo , Diploidia , Femenino , Humanos , Interfase/efectos de los fármacos , Leucemia Linfoide/tratamiento farmacológico , Linfoma no Hodgkin/patología , Masculino , Mitosis/efectos de los fármacosRESUMEN
1. Compared with the peripheral blood lymphocytes of healthy children the cell fractions in the S- and G2 + M-phase are significantly higher in the bone-marrow of those children affected with ALL. This increase was proved in the SR- and MR-group irrespective of the cytomorphological subtype and cytochemical reaction. In patients with relapses the percentage of S-phase cells is below 6%. 2. In about 30% of our patients (mainly in the SR-group with L1-morphology) an initial DNA-aneuploidy was identified. As the risk of relapse is higher in children without DNA-aneuploidy, this symptom has a pretherapeutical-prognostic significance. 3. In the phase of hematological full remission, DNA-frequency distribution correlates with the proliferative activity of normal hematopoiesis. It provides no additional information about the pretherapeutical risk.
Asunto(s)
Médula Ósea/patología , Citofotometría/métodos , Leucemia Linfoide/patología , Adolescente , Aneuploidia , División Celular , Niño , Preescolar , Femenino , Humanos , Lactante , Linfocitos/patología , Masculino , PronósticoRESUMEN
The investigation of lymphatic cells from venous blood shows an increase of cells in the S-phase during the acute stage of infectious mononucleosis, which is connected with a decrease of G1-phase cells. G2 + M fraction will remain within the normal range. These changes will completely recede within the first four weeks of the disease. In contrast to that, there is an increase in the percentage of G2 + M phase cells in the bone-marrow at the onset of the disease. The other fractions are within the normal range.
Asunto(s)
Mononucleosis Infecciosa/inmunología , Activación de Linfocitos , Linfocitos/inmunología , Enfermedad Aguda , Adolescente , Niño , Preescolar , Citometría de Flujo , Humanos , Mononucleosis Infecciosa/sangre , Mononucleosis Infecciosa/patología , Interfase , Recuento de Leucocitos , Linfocitos/patologíaRESUMEN
Detailed discussion of action, indication and side effects of D-Penicillamine which was used for the treatment of chronic hepatitis of infancy. Of 18 patients, 7 had chronic-active hepatitis, 6 chronic persisting hepatitis, 2 subacute hepatitis and 3 fibrosis of the liver. Control of results was based on numerous clinical chemical investigations and repeated liver biopsies. The transaminases and histology of the biopsies were the essential parameters. Doses between 15 and 35 mg/kg of body weight gave very favorable results in these 18 patients, treated over 5 to 24 months. Australia antigen-negative, chronic active hepatitis appeared to be particularly suited for this type of treatment.
Asunto(s)
Hepatitis/tratamiento farmacológico , Penicilamina/uso terapéutico , Adolescente , Alanina Transaminasa/sangre , Aspartato Aminotransferasas/sangre , Biopsia , Niño , Preescolar , Enfermedad Crónica , Femenino , Hepatitis/enzimología , Hepatitis/patología , Humanos , Lactante , Hígado/patología , Masculino , Penicilamina/administración & dosificación , Penicilamina/efectos adversosRESUMEN
The diagnosis of a pulmonary sequestration is suggested by a continuous murmur over the back combined with recurrent infection of the lung. In the reported case the murmur grew in the beginning and then disappeared spontaneously.