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Biomedical subjects

H Leiba

Publications and source records attributed to H Leiba.

36 records · Page 2Linked to original sources
PubMed1978

Biochemical, genetic and ultrastructural study of a family with the sea-blue histiocyte syndrome/chronic non-neuronopathic Niemann-Pick disease.

Deficient leucocyte sphingomyelinase activity has been demonstrated in a patient with the sea-blue histiocyte syndrome. Family studies revealed that two other cases previously diagnosed on clinical and histochemical criteria also had a pronounced diminution of sphingomyelinase activity. Both parents of the affected individuals were carriers of the disease as indicated by sphingomyelinase activity intermediate between normal and diseased subjects. Additional heteroxygous carriers were found among the siblings and other relatives of the patients. This family study supports further the hypothesis that the sea-blue histiocyte syndrome and chronic Niemann-Pick (Type B) disease are the same.

Adolescent↗
PubMed1978

Combined glucose phosphate isomerase and glucose-6-phosphate dehydrogenase deficiency of erythrocytes.

A patient with combined deficiency of erythrocyte glucose phosphate isomerase (GPI) and glucose-6-phosphate dehydrogenase (G6PD) is presented. The propositus has persistent unconjugated hyperbilirubinemia. One of his two brothers exhibits the same rare enzymatic defect, but without any clinical symptoms. The electrophoretic pattern of GPI showed GPI type 1. There seems to be a correlation between the unconjugated hyperbilirubinemia and the combined enzymopathy in our patient.

Adult↗
PubMed1975

Haemoglobin G-Szuhu, beta80 Asn-Lys, in the homozygous state in a patient with abetalipoproteinaemia.

An 11-year-old Jewish girl of Turkish extraction with abetalipoproteinaemia was found to be homozygous for haemoglobin Szuhu (beta80 Asn leads to Lys). Except for the abnormal haemoglobin, no other haematological or biochemical abnormalities were found in her consanguineous parents and one sister. In the propositus, erythrocyte morphology showed the acanthocytosis known to be in association with abetalipoproteinaemia. Increased autohaemolysis was also found, which reverted to normal after treatment with vitamin E. This case represents the first reported association of abetalipoproteinaemia with an abnormal haemoglobin, and the first homozygous Hb G-Szuhu.

Abetalipoproteinemia↗
PubMedDate not supplied

Laser treatment of eye disorders in children.

The increasing range of indications for laser treatment and the development of new modalities of lasering have led to a growing tendency to extend this type of treatment to the pediatric population. Problems of compliance in this age group often necessitate the use of general anesthesia. This report describes the operative technique used in 11 children (13 eyes) under the age of 13 years, all of whom underwent laser treatment under general anesthesia for a variety of ocular conditions. Argon or krypton laser photocoagulation was performed in eight children (10 eyes), seven of whom were treated for various retinal pathologies and one for an iris cyst. The other three children underwent Nd:YAG posterior capsulotomy for secondary cataract.

Anesthesia, General↗