Retrospective evaluation of M3 variant in children.
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Biomedical subjects
Publications and source records attributed to M Ferrari.
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In 9 patients with myeloproliferative diseases (MPD) (6 with myelofibrosis, MF, 1 with Ph1 positive chronic granulocytic leukaemia, CGL, 1 with primary eosinophilia, PE, 1 with pre-leukaemia syndrome, preL) collagen, epinephrine, and ADP-induced aggregation, N-ethylmaleimide-induced malondialdehyde (MDA) production, beta-thromboglobulin (beta-TG) plasma levels, and platelet turnover were studied. Collagen-induced aggregation was found to be normal in 7 patients, absent in 1, and reduced in 1. In all but 3 patients, aggregation with ADP was markedly reduced. Epinephrine-induced aggregation was decreased in 7 patients. No difference was found between mean MDA production in MPD (3.21 +/- 0.50 nmol/10(9) PLTs) and in control group of 21 normal subjects (3.04 +/- 0.26 nmol/10(9) PLTs). Mean beta-TG levels were significantly higher (P less than 0.01) in MPD patients (165.00 +/- 28.29 ng/ml) than in healthy controls (81.76 +/- 14.63 ng/ml). Mean platelet production half-time was significantly shorter in MPD (2.48 +/- 0.24 d) than in the control group (3.43 +/- 0.17 d), after adjustment for age by covariance analysis (P less than 0.005). Our data do not indicate an abnormal prostaglandin synthesis and are consistent with the hypothesis that a disseminated intravascular platelet aggregation might take place in MPD patients.
A variant form of acute promyelocytic leukemia has been recently described, characterized by a particular morphological picture associated with severe disseminated intravascular coagulation, with hyperleukocytosis at onset in most cases, and often a rapidly fatal outcome. Reviewing our case series of the past 3 years, we have identified 2 cases which presented with this typical clinical and hematological picture, in which diagnoses have been made retrospectively. The possibility of diagnosing this variant at onset even only on the basis of cytomorphology is discussed as well as the advisability of studying a new therapeutic approach for cases of this type in a attempt to improve its otherwise very unfavorable prognosis.
This study investigated the reinforcing properties, limits, and motivating potentials of sensory stimuli with autistic children. In the first phase of the study, four intellectually retarded autistic children were exposed to three different types of sensory stimulation (vibration, music, and strobe light) as well as edible and social reinforcers for ten-second intervals contingent upon six simple bar pressing responses. In the second phase, the same events were used as reinforcers for correct responses in learning object labels. The results indicated that: (a) sensory stimuli can be used effectively as reinforcers to maintain high, durable rates of responding in a simple pressing task; (b) ranked preferences for sensory stimuli revealed a unique configuration of responding for each child; and (c) sensory stimuli have motivating potentials comparable to those of the traditional food and social reinforcers even when training receptive language tasks.
A recently developed isoelectric focusing technique for human globin chain separation has been applied to the antenatal diagnosis of beta 0-thalassemia in Sardinia. Results obtained with this method show a complete concordance with those obtained by the currently-in-use chromatographic separation of globin chains by carboxymethyl-cellulose. The ease with which several samples (up to 20) can be simultaneously processed and analyzed by a single operator and the very simple equipment required make this new method ideal for the antenatal diagnosis of beta 0-thalassemia and could encourage a more widespread use of prenatal diagnosis of thalassemias.
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A terminal deletion of the long arm of chromosome 7 is identified in a boy observed from birth to age 6 months. Eleven previously reported cases were reviewed. Eleven previously reported cases were reviewed. The most common features are microcephaly with brachycephaly, prominent forehead, large ears, a nose with bulbous tip, overlapping toes, genital abnormalities in the males and excess of subcutaneous tissue. Delayed mental and physical development is a general rule but visceral malformations seem uncommon.
In clinical Arrhythmology it is often necessary to associate digitalis and antiarrhythmic agents. This calls for study of possible interaction between the employed drugs. We found a statistically significant correlation between digitalis and amiodarone plasma level in patients on long term treatment with both drugs. A statistically significant linear correlation between plasma amiodarone level and digoxin (0.25 mg/day) or beta-methyldigoxin (0.20 mg/day) was documented in 33 patients. 23 patients had been treated with these drugs for paraxysmal reciprocating supraventricular tachycardia since an average of 52 months (computerized follow-up). (Amiodarone average weekly dose was 1078 +/- 168 mg after a loading dose of 12 gm given over one month). 10 patients were on chronic treatment with higher weekly doses of amiodarone (average dose 2380 +/- 731 mg per week). Thyroid function tests (T4; T3; T3UP; TSH; rT3) were checked in every patients. Further studies are warranted to understand the mechanism of the interaction between amiodarone and digitalis. As a clinical implication we point out that amiodarone-digoxin (or betamethyldigoxin) interaction in our patients has neither resulted in over-therapeutic plasma level nor in signs of digitalis toxicity.
The relationship between running velocity and heart rate has been determined in 320 runners. A deflection from the expected linearity of this relationship has been observed at sub-maximal running speeds. Deflection velocity and anaerobic threshold (established through blood lactate determination) were coincident in 10 runners, thus showing that the increase in running speed exceeding the augmentation in heart frequency above Vd depends on anaerobic ATP production.
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The results are described of 200 antenatal diagnostic tests for haemoglobinopathies performed on samples of fetal blood obtained during the second trimester of pregnancy. Haemoglobin A synthesis in the fetus was measured by incorporation of tritiated leucine in vitro and separation of the globin chains on CM23 columns. The range of HbA synthesis detected was 3.5-8.0% in normal fetuses, 2.0-5.0% in fetuses with thalassaemia trait, and less than 1.6% in fetuses with thalassaemia major. There were eight cases in which other haemoglobinopathies were diagnosed. 29% of the pregnancies were terminated because thalassaemia major was diagnosed, and 9.5% of the remaining healthy fetuses were lost for obstetric reasons. Follow up has been possible for 96% of the 124 surviving babies and three misdiagnoses have come to light; one false positive (0.5%) and two false negatives (1%). These figures represent a first effort at antenatal diagnosis for haemoglobinopathies and it is likely that they will improve with the passage of time.
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17 patients with myotonic dystrophy have been studied. The skeletal muscle disease has been assessed by history, physical examination, electro-myography and muscle biopsy. Cardiac evaluation has been obtained by history, physical examination, chest X-ray, ecg at rest and after exercise, vectorcardiography and echocardiography. Only two patients presented symptoms and clinical findings of cardiac disease, otherwise conduction disturbances have been founded in 15 cases, pseudoinfarct pattern in 5 cases and loss of anterior vectors in 2 cases. Has to be remembered that in myotonic dystrophy sudden death has a very high incidence, which could be explained by the development of complete a-v block, because of the impairment of the conduction system. Therefore, in those patients with bifascicular blocks (3 cases), the electrophysiological study may be useful in order to evaluate the opportunity to put on a permanent pace-maker, to prevent sudden death.
The effects of digoxin have been studied on PRA of 11 hypertensive patients treated with a single oral administration of the glycoside or submitted to a prolonged treatment. The experiments performed with a single oral administration (0,5 mg) showed that digoxin induces a significant decrease of the hyperreninemic response induced by furosemide. This effect of digoxin develops very quickly and is well evident when plasma levels of the glycoside are still low. However, in the patients pretreated with a beta blocker, digoxin was completely ineffective in preventing the response to furosemide. In view of the results, the hypothesis is put forward that digoxin mainly acts at renal level through an antiadrenergic activity.
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Patients with chronic uremia undergoing periodic haemodialysis were found to have low levels of vitamin B6 (12 out of 18 patients). The same subjects also showed a reduction of the immunocompetence. The AA. report that the administration of pyridoxine (100 mg/die for 4 weeks) can induce a normalization of the vitamin levels and of some immunological parameters.