Shaul Yatziv

Cyclosporin A in the treatment of refractory immune thrombocytopenia purpura in children

Abstract: Patients with refractory autoimmune thrombocytopenia do not respond to standard therapy with high‐dose corticosteroids, intravenous immunoglobulin, and splenectomy. We describe the cases of two patients with refractory autoimmune thrombocytopenia treated with oral cyclosporin A (CsA) to evaluate the efficacy of this alternative therapy. Blood pressure and hepatic and renal function were in the normal range before initiation of treatment. Induction therapy with pulses of high‐dose methylprednisolone was used for 3 consecutive days to improve the initial immune suppression. Gradual dose reduction of CsA, according the platelet count, minimized the long‐term adverse effects of CsA. Oral CsA with pulses of high‐dose methylprednisolone induced remission of the thrombocytopenia. Gradual weaning of CsA over months, according the platelet count, produced no observable adverse effects of the CsA. Rapid dose reduction caused thrombocytopenia, which resolved with higher dosages of CsA. Our cases show the efficacy of CsA for refractory immune thrombocytopenia. This therapeutic option with oral CsA as an additional salvage option may avoid splenectomy and the adverse effects of long‐term corticosteroids. Larger clinical investigations are necessary to establish the indications and therapeutic regimen for CsA in immune thrombocytopenia.

Massive gingival hyperplasia preceding dental eruption in I-cell disease

Abstract A case of I-cell disease, characterized by massive gingival hyperplasia preceding deciduous tooth eruption, maxillofacial and other skeletal malformations in growth and maturation, and absence of enamel formation, is presented. The syndrome is characterized by maturational defects appearing soon after birth and by early psychomotor retardation, progressive skeletal deformities, and facial abnormalities. Differentiation between I-cell disease and other members of the Hurlers syndrome group (G M1 -gangliosidosis, lipomucopolysaccharidosis, mucopolysaccharidosis I) can be made on the basis of both clinical and laboratory studies. The consistent feature of I-cell disease is the presence of intracytoplasmic inclusion bodies in cultures of fibroblasts from the skin. This case report indicates the early onset and marked severity of the gingival involvement, suggesting its importance to the dental profession.

Glycosidase Activities of Mycoplasmas

The activities of alpha- and beta-glucosidase, beta-galactosidase and beta-N acetylglucosaminidase were assessed at acidic pH by fluorimetry using the appropriate 4-methylumbelliferyl substrate in four Mycoplasma species (M. pneumoniae, M. gallisepticum, M. hominis and M. capricolum) and in Acholeplasma laidlawii. The glycosidase activities were in a low range (0.1-4.2 nmole per h per mg protein) with the exception of higher activities of beta-N-acetylglucosaminidase in A. laidlawii. The enzyme levels of a virulent and a nonvirulent strain of M. pneumoniae were comparable. Despite the very sensitive assay, neuraminidase activity was not detected in M. pneumoniae and M. gallisepticum. No induction of alpha-glucosidase could be demonstrated for M. pneumoniae or A. laidlawii. At least part of the glycosidase activities was localized in the membrane fraction of all mycoplasmas studied. This may support the hypothesis that pathogenic mycoplasmas, being membrane parasites, may modify, by their glycosidases, some host cell glycoconjugates. However, our study did not distinguish the pathogenic mycoplasmas to possess a characteristic glycosidase profile.

Oral manifestations of Morquio's syndrome.

The clinical and laboratory findings in two siblings affected with Morquios syndrome are described. The oral findings, consisting of disturbances in the structure of the enamel in both deciduous and permanent teeth, resemble those of amelogenesis imperfecta, Type 1. Preformed crowns are recommended as the initial treatment, in order to avoid loss of vertical height. The dentists familiarity with the oral manifestations of Morquios disease may contribute to the early detection of this condition.

“Lysosomal” enzyme activities in red blood cells of normal individuals and patients with homozygous β-thalassaemia

Four hydrolases, beta-galactosidase, beta-glucuronidase, beta-N-acetylglucosaminidase and acid phosphatase were examined in red blood cells (RBC) of normal donors and patients with homozygous beta-thalassaemia. Highly sensitive fluorimetric substrates were used to determine the specific activities of these enzymes. In order to avoid contamination by lysosomal activities derived from white blood cells (WBC), the mature RBV were separated from other blood elements by cellulose chromatography. The hydrolase activities in normal RBC were detected only in their plasma membranes and were found to be considerably lower than in WBC or platelets. In thalassaemic RBC, hydrolase activities were present in both plasma membranes and in the soluble fraction. The normoblast fraction contributed most of the hydrolase activity found in these preparations, suggesting the presence of lysosomal particles in thalassaemic RBC. No differences in the enzymatic activities were found when purified membranes of mature RBC from thalassemic and normal preparations were compared. The origin and roles of these hydrolytic enzymes in normal and thalassaemic RBC membranes are not known.

Acute Promyelocytic Leukemia in Childhood

A rare case of acute promyelocytic leukemia (APL) is reported in a 7-year-old boy. The patient displayed the typical features of APL including impaction of the marrow with promyelocytes, marked elevat

Pre and post axial polysyndactyly, microcephaly and ptosis

A five-year-old boy of Iranian origin with multiple anomalies is described. His parents are first and second cousins. He presented with short stature, psychomotor retardation, microcephaly, ptosis, dacryostenosis, partial left nerve deafness, high arched palate, bifid uvula, total fusion between incisors, asymmetric preaxial and postaxial polysyndactyly, brachyphalangy, kyphosis and spina bifida occulta of S1. To our knowledge, a similar case has not been reported previously.