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Biomedical subjects

S Yatziv

Publications and source records attributed to S Yatziv.

At least 73 records · Page 4Linked to original sources
PubMed1975

Oral manifestations of Morquio's syndrome.

The clinical and laboratory findings in two siblings affected with Morquio's 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 dentist's familiarity with the oral manifestations of Morquio's disease may contribute to the early detection of this condition.

Child↗
PubMed1975

Mucolipidosis IV: ocular, systemic, and ultrastructural findings.

The ocular and systemic findings in four children with mucolipidosis IV (ML IV), a new variant of mucolipidosis, are described. Corneal clouding from birth or early infancy is a prominent feature in all of the patients and in two of them, this was the presenting symptom. Psychomotor retardation usually does not become apparent until the end of the first year of life. Conjunctival biopsies revealed two types of abnormal inclusion bodies: (1) single-membrane-limited cytoplasmic vacuoles containing both fibrillogranular material and membranous lamellae, and (2) lamellar and concentric bodies similar to those found in Tay-Sachs disease. The abnormal cytoplasmic organelles were present in both the stromal fibroblasts and the epithelial cells. The electroretrinogram performed in one patient was subnormal.

Cell Nucleus↗
PubMed1975

Dentigerous cysts and radiolucent lesions of the jaw associated with Hunter's syndrome.

Two cases of Hunter's syndrome in brothers are presented. One case was associated with dentigerous cysts and the other was associated with collagenous connective lesions. Condylar deformities also were present in both cases. Radiographic differential diagnosis between the two types of lesions is discussed and methods of treatment are proposed.

Adolescent↗
PubMed1975

A therapeutic trial of fresh plasma infusions over a period of 22 months in two siblings with Hunter's syndrome.

The clinical and biochemical changes following long-term treatment with infusions of fresh plasma over a period of 22 months are outlined in two siblings with the mild type of Hunter's syndrome. During the first six months of treatment, the clinical status of both siblings was characterized by accelerated growth, reduction in the size of liver and spleen, improvement in joint movement and diminution in the tendency to respiratory infections. During the remaining 16 months, these changes were less conspicuous. The first plasma infusion resulted in parallel, albeit transient, changes in pattern of urinary glycosaminoglycan excretion, manifested mainly by an increase in the cetylpyridinium-chloride-nonprecipitable glycosaminoglycan fraction. The main factor contributing to this increase was found to be heparan sulfate. After subsequent plasma infusions, however, the basic pattern of urinary glycosaminoglycan excretion remained the same as before treatment, although convincing clinical changes were still evident for at least the first six months in both siblings.

Blood Transfusion↗
PubMedDate not supplied

Gastrointestinal involvement in homocystinuria.

Homocystinuria is frequently associated with severe multisystem involvement such as dislocated lenses, skeletal deformities, mental retardation and premature vascular occlusions. Surprisingly, gastro-intestinal involvement has not been described in this disorder. We present a 17 year old boy with homocystinuria due to cystathionine beta-synthase deficiency, who developed severe gastrointestinal involvement, manifested by chronic diarrhoea and acute pancreatitis. The diarrhoea was successfully treated with betaine. Possible pathophysiological mechanisms and suggested treatment are described.

Adolescent↗
PubMedDate not supplied

Prolonged electrocerebral silent barbiturate coma in intractable seizure disorders.

Barbiturate coma (BC) is a known modality for terminating resistant convulsive status epilepticus. It is usually applied until seizure activity ends. We recently adopted a modified protocol of prolonged, electrocerebral silent BC to treat patients with chronic seizure activity resistant to multiple regimens of antiepileptic drugs. Four patients, aged 4 months to 10 years, with long-standing intractable generalized seizures were treated. Seizure frequency ranged from one to two to numerous times per day. Following BC, one patient has been seizure free during 8 months of follow-up, and another has had only two seizures in 18 months. A 4-month-old infant was seizure-free for 2 weeks after BC and then died from underlying CNS disease. A 10-year-old girl died during BC from shock and hyperpyrexia. The results obtained in our patients indicate that prolonged electrocerebral silent BC may exert a beneficial long-term effect in treatment of intractable seizure disorders. This procedure might also be beneficial in other forms of epilepsy.

Child↗