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Biomedical subjects

Y Matoth

Publications and source records attributed to Y Matoth.

At least 19 recordsLinked to original sources
PubMed1988

Familial simple hypohidrosis with abnormal palmar dermal ridges.

A brother and sister born to nonconsanguineous, Iranian Jewish parents were found to have simple hypohidrosis. Pilocarpine produced only little sweating, and external heat and physical effort were associated with elevation of body temperature. Abnormal palmar dermal ridges were considered to be associated with paucity of sweat pores and glands. Biopsy supported this view since only one normal sweat gland and duct was found in a 5 mm punch.

Adolescent↗
PubMed1987

Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews.

In this study we estimate the frequency of carriers of chronic (type I) Gaucher disease among Ashkenazi Jews by examining the glucocerebrosidase activity in leukocytes in a population of 635 blood donors (441 Ashkenazi) and 57 obligatory heterozygotes. Estimation using the defect in the enzyme glucocerebrosidase (beta-glucosidase) in leukocytes is complicated by the existence of considerable overlap between enzyme activity in normals and in heterozygotes. The assay was carried out with a natural substrate labeled with 14C. Discriminant analysis was used to establish an optimal cutoff point between the obligatory heterozygotes and normal (non-Ashkenazi) subjects for the purpose of estimating frequency of carriers. Applied to the Ashkenazi group, the cutoff point identified 3.17% as heterozygotes. Corrected for errors in classification, the carrier rate was estimated as 4.67%. This figure is in good agreement with a carrier rate of 4% estimated from the number of known cases of clinical Gaucher disease ascertained in Israel.

Ethnicity↗
PubMed1986

Effect of splenectomy on destructive bone changes in children with chronic (Type I) Gaucher disease.

The incidence and severity of osteolytic bone changes in patients with chronic (Type I) Gaucher disease splenectomized in the first decade of life were compared to those in patients of the same age group and similar degree of severity of the disease in whom the spleen remained intact at least until the second half of the second decade. The size of the spleen, measured by palpation, was used as an index of severity. In the splenectomized group osteolytic changes appeared within a few months following splenectomy in six out of eight cases. The changes were severe in five cases and moderate in one. In contrast, in the non-splenectomized group, evidence of bone destruction was found in two out of eight patients and classified as mild in both cases. Furthermore, in three patients in this group, who remained free of bone destruction until splenectomy in the second half of the second decade, osteolytic lesions appeared soon after the operation. Children with chronic Gaucher disease can be spared a great deal of suffering caused by bone disease, if splenectomy is avoided or postponed as far as possible.

Bone Resorption↗
PubMed1986

Genetic heterogeneity in Gaucher disease.

Considerable clinical variability occurs in adult Gaucher disease type I and three main subtypes may be delineated: a very mild form, a severe form, and a moderate form which itself presents various clinical manifestations. A study based on 25 families from our clinic and a review of published reports showed that when both parents were heterozygous and more than one child was affected with Gaucher disease type I, there was always intrafamilial similarity concerning the three subtypes. In families where one parent and at least one child were affected, variability in the clinical subtype of Gaucher disease type I might occur among the affected members of the family. We propose that the three different clinical subtypes of this disease reflect the genetic heterogeneity of two alleles, G1a and G1b and the three corresponding genotypes represent the three different subtypes of the disease.

Gaucher Disease↗
PubMed1979

Folate nutrition and growth in infancy.

The effect of suboptimal folate nutrtion on the growing infant was studied in a population of infants fed a diet based on boiled, pasteurised cows' milk. One group of infants received a daily supplement of 1 mg folic acid from age 2 months, while the other group received a placebo. The infants were seen at bimonthly intervals. In the supplemented group the red cell folate level had increased to twice its pretreatment value by 4 months, and remained at this high level to the end of the first year. Hb concentration and incidence of anaemia were similar in both groups. The incidence of infection in the two groups did not differ. Weights and lengths attained at 6 months, and the rate of gain from 2 to 6 months were higher in infants whose folate levels were above the median value than in those below it. In the second half of the first year the differences between the two groups were no longer evident.

Body Height↗
PubMed1978

Effect of intrauterine growth on erythropoiesis.

Erythropoietic activity, as reflected in the reticulocyte count and the incorporation of 59Fe into red cells, was studied in relation to intrauterine growth of rabbit fetuses during the last third of the period of gestation. Radioiron (10 microci) was administered by i.v. injection into the mothers and placental transfer to the fetuses. The fetuses were extracted after 48 hours. The amount of radioiron received by each individual fetus was determined by whole body counting. Radioactivity in red cells was determined and calculated as a percentage of the dose received. From day 21 to day 31 of gestation, the hemoglobin concentration increased by a factor of 1.5, from 8 to 12.2 g/100 ml, while the body mass increased by a factor of 7, from 6.6 to 47.5 g. During the same period the rate of growth declined from 45 to 20% in 24 hours. This was paralleled by a drop in 59Fe incorporation from 35 to 12% and in the reticulocyte count from 85 to 14.5%. It is concluded that the rate of erythropoiesis in fetal life is largely controlled by the rate of growth and the corresponding increase in hemoglobin mass.

Animals↗
PubMed1977

Severe disseminated adenovirus infection successfully treated with a thymic humoral factor, THF.

Adenovirus and other usually benign viral infections may occasionally be associated with severe fulminant disease, often accompanied by acute acquired cellular immunodeficiency. Thymic humoral factor derived from calf thymuses has been demonstrated to have the capacity to restore the immunocompetence of immature, incompetent T cells. This factor was used in the treatment of a 3 1/2-year-old boy who was critically ill with an adenovirus infection and presented evidence of immunocellular deficiency. Within less than 48 hours after the institution of treatment with thymic humoral factor there was a dramatic, progressive clinical improvement, with restoration of the cellular immunocompetence. It is suggested that thymic humoral factor may be beneficial in the treatment of severe viral infections associated with depressed cellular immunocompetence.

Adenoviridae Infections↗
PubMed1977

Factors affecting materno-fetal transfer of iron in the rat.

Materno-fetal transfer of iron was studied in the rat under various conditions affecting maternal iron kinetics. A low maternal plasma iron turnover rate (PITR), whether due to a low serum iron concentration or a reduced plasma volume, was associated with a decrease in the amount of iron transported to the fetuses. Conversely, a high PITR due to iron overload and a high serum iron concentration, produced a marked increase in the amount of iron received by the fetuses. No such increase was observed in fetuses of mothers made anemic by bleeding or phenylhydrazine, in whom both the PITR and erythropoietic activity were increased, persumably due to maternal competition for iron. The amount of iron crossing to the fetuses, therefore, is affected by the interplay of two conflicting factors: the PITR and maternal needs for iron, as dictated by the level of erythropoietic activity.

Anemia, Hypochromic↗
PubMed1976

Accumulation of lactosyl ceramide in leukocytes of patients with adult Gaucher's disease.

Glycosphingolipids were isolated from the leukocytes of 10 patients with Type I, chronic nonneuronopathic (adult) Gaucher's disease and 12 normal subjects, by silicic acid column chromatography and thin-layer chromatography. Quantitation of the individual glycosyl ceramides was achieved by the determination of hexose and sphingosine content, using colorimetric and fluorometric procedures. Lactosyl ceramide, which is the main glycolipid in leukocytes of normal subjects, was significantly increased in the leukocytes of patients with Gaucher's disease. On the other hand, the amount of glycosyl ceramide, which is the main glycolipid accumulating in the reticuloendothelial cells of patients with Gaucher's disease, was similar in Gaucher and in control leukocytes.

Adult↗
PubMed1976

Red cell values on the first postnatal day during the last 16 weeks of gestation.

The hemoglobin concentration, red cell count, hematocrit, reticulocyte count, and red cell size distribution were determined on skin prick blood obtained on the first postnatal day from infants born at various stages of gestation, from week 24 to term. During this period the hemoglobin concentration and hematocrit remained constant, around 19 gm/100 ml and 60%, respectively. The mean corpuscular volume decreased progressively, with a corresponding rise in the red cell count. The reticulocyte count decreased progressively from 9.6% to 3.7% during the period of observation. The red cell size distribution (Price Jones) curve was markedly shifted to the macrocytic side at 24-25 weeks. Thereafter, cells larger than 102 mu3 decreased gradually, while the percentage of smaller cells increased. These observations are not consistent with the hypothesis of a progressive decrease in the supply of oxygen to the fetus during the later stages of gestation, to which the fetus adapts by increasing its hemoglobin concentration.

Erythrocyte Count↗