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A Mosca

Publications and source records attributed to A Mosca.

119 records · Page 7Linked to original sources

Preliminary experience with the differential pH technique for glucose-6-phosphate dehydrogenase (G6PD) measurement in whole blood: application to an area with high prevalence of thalassaemia and G6PD deficiency.

A new differential pH technique for glucose-6-phosphate dehydrogenase quantitative determination in whole blood has been evaluated. It is a rapid (90 s/analysis), reproducible (C.V. within-run 3.7%; between-run: 2.8%) and accurate method (in comparison with WHO method: r = 0.970). Reference intervals in non-deficient males were evaluated in 167 non-thalassaemics and in 60 beta-thal heterozygotes. The G6PD activity in beta-thalassaemia carriers is higher than in normals; this is particularly true if the activity is expressed in terms of U/g Hb. The phenotypic distribution measured in females is in agreement with that calculated by the Hardy-Weinberg law based on the incidence of the Gd(-) gene in males.

Adolescent↗

Double heterozygosity for hemoglobin Malmö [beta 97 (FG 4) His----Gln] and beta-thalassemia traits.

A 32-year-old Sicilian man had marked erythrocytosis (Hb = 23.0 g/dl, RBC = 10.5 x 10(12)/l, MCV = 71 fl, Hct = 84-92%, a 4.5 times increase in total erythropoies) and saphenous system varices, without other clinical abnormalities. By Hb electrophoresis, an abnormal Hb migrating slightly more anodally than Hb A was found. HbA0 was almost completely absent. The abnormal Hb was recognized to be Hb Malmö [beta 97 (FG4) His-Gln], a human Hb variant with greatly increased oxygen affinity. The patient was also a carrier of the beta-thalassemia trait. The father of the propositus was a heterozygous carrier of Hb Malmö (about 40% of total Hb), while his mother had only a beta-thalassemia condition. This is the first reported case of double heterozygosity for both Hb Malmö and beta-thalassemia, thus producing complete absence of normal Hb.

Adult↗

[Induction of thromboplastin-like procoagulating activity by Mycoplasma pneumonia].

The capacity of a strain of Mycoplasma pneumoniae to induce the production of procoagulant activity by human mononuclear cells is described. This finding could contribute to the understanding of the pathogenetic mechanism(s) involved in the thromboembolic complications often associated with fatal cases of Mycoplasma pneumoniae infection.

Blood Coagulation↗

[Chondroepiphyseal pathology in childhood hypothyroidism. Problems of diagnosis and prevention].

Congenital hypothyroidism may present in the differential diagnosis of hypoplastic changes of the femoral heads. Failure to recognize early this entity may result in severe developmental changes. Thus, a team effort among member of different subspecialties (paediatrics, orthopedics and radiology) is necessary for prompt and effective treatment. This paper presents and discusses some cases of the disease as examples of such approach.

Child↗