RESUMEN
We present the cytogenetic investigations of five histiocytic tumour lesions from children. In four cases there was a confirmed diagnosis of Langerhans cell histiocytosis (LCH) and one case of histiocytosis that did not fulfil all the criteria for true LCH. All five cases showed cytogenetic abnormalities, including the first report of an abnormal clone in LCH. The clone showed a t(7;12)(q11.2;p13) translocation and was detected in only a small percentage of cells. This case and a further three also contained non-clonal abnormalities and an increase in chromosome breakage. The fifth case, the only one in which no acquired abnormalities were seen, had a constitutional paracentric inversion of chromosome 13q.
Asunto(s)
Aberraciones Cromosómicas/genética , Histiocitosis de Células de Langerhans/genética , Adolescente , Niño , Preescolar , Deleción Cromosómica , Humanos , Lactante , Cariotipificación , Masculino , Translocación GenéticaRESUMEN
We report the cytogenetic analysis of a medulloepithelioma, a rare neuroectodermally-derived tumor of childhood, which to our knowledge is the first reported karyotype of this tumor. The tumor sample was received at diagnosis and was mechanically dissociated to create cell suspension cultures. The primary cytogenetic abnormality was a der(16)t(1;16) chromosome, which was typical of that reported in a wide range of other tumor types. The other abnormalities seen were a del(6q) and monosomy 15.
Asunto(s)
Aberraciones Cromosómicas , Trastornos de los Cromosomas , Cromosomas Humanos Par 15 , Cromosomas Humanos Par 1 , Cuerpo Ciliar , Neoplasias Neuroepiteliales/genética , Translocación Genética , Neoplasias de la Úvea/genética , Niño , Bandeo Cromosómico , Enucleación del Ojo , Femenino , Estudios de Seguimiento , Humanos , Cariotipificación , Monosomía , Neoplasias Neuroepiteliales/patología , Neoplasias Neuroepiteliales/cirugía , Células Tumorales Cultivadas , Neoplasias de la Úvea/patología , Neoplasias de la Úvea/cirugíaRESUMEN
Glucoscot II, a new glucose reflectance meter and the corresponding test strip "Glucopat" were evaluated for their accuracy in the detection of neonatal hypoglycemia. In 100 neonatal blood samples of 44 neonates glucose was estimated with the reflectance meter and the results were compared with those from a reference method (Beckman-Glucose-Analyser). Hypoglycemia was defined as blood glucose of less than 2.2 mmol/l (40 mg/dl). The correlation between the values obtained by the test strip and the reference values was high (= 0.95). Test sensitivity was 100%, specificity 99% and the predictive value for hypoglycemia was 94%. The incidence of a blood sugar less than 2.2 mmol/l in our study population was 15%. Thirteen percent of glucose values determined with the reflectance meter deviated from the reference value by more then 20%. If our data can be confirmed by others we conclude that the Glucoscot II/Glucopat-system can be recommended as screening-test for hypoglycemia in neonates.
Asunto(s)
Glucemia/análisis , Hipoglucemia/diagnóstico , Enfermedades del Prematuro/diagnóstico , Microcomputadores , Fotometría/instrumentación , Tiras Reactivas , Humanos , Hipoglucemia/sangre , Recién Nacido , Enfermedades del Prematuro/sangreRESUMEN
We evaluated two glucose test strips for their accuracy in detecting hypoglycemia in newborn infants. Reflotest-Hypoglycemia and Haemo-Glucotest and the reflectance meter technique Reflomat I and Reflolux II respectively were used for screening blood sugar values, and compared with laboratory glucose determination using an automatic analyzer (glucose oxidase method). In 134 neonatal blood samples of 56 newborn infants glucose was quantified with the three methods. Hypoglycemia was defined as blood glucose of less than 2.2 mmol/l (less than 40 mg/dl). Test sensitivity was 71%, specificity 97% for Reflomat I, 88% and 82% for Reflolux II, respectively. Analysing the falsely normoglycemic values measured by Reflomat I, no true blood sugar value below 2 mmol/l (less than 36 mg/dl) was found, and no value below 1.2 mmol/l (less than 22 mg/dl) measured by Reflolux II. Defining hypoglycemia as a blood glucose value of less than 2 mmol/l (less than 36 mg/dl) the sensitivity for Reflomat I would be 100%; therefore, significant hyoglycemia should not be missed with this test. Both tests give some false-positives; 3 of 100 Reflomat I and 18 of 100 Reflolux II readings were falsely below 2.2 mmol/l (less than 40 mg/dl). From these data we conclude that Reflomat I is an accurate screening-test for hypoglycemia in neonates; while the use of Reflolux II would cause too much unnecessary treatment.