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Biomedical subjects

R Lisker

Publications and source records attributed to R Lisker.

At least 19 recordsLinked to original sources
PubMed1979

Cytogenetic and endocrine studies in a 45,X female subject with spontaneous sexual development.

Cytogenetic and endocrine evaluation of a postpubertal 45,X female subject with Turner's stigmas and spontaneous sexual development was performed. A 45,X chromosomal complement was found in the peripheral blood lymphocytes, bone marrow, and fibroblasts derived from skin and ovaries. Menarche, pubarche, and thelarche occurred at age 12; at age 16 she developed menstrual irregularities, with endometrial bleeding occurring every 60 to 90 days. The ovaries were normal in size, and histologic examination revealed a marked paucity of primordial follicles, increased collagenization, and absence of corpora albicans. Anovulatory cycles with moderately elevated levels of luteinizing hormone (LH) and low follicle-stimulating hormone (FSH) levels were observed. LH-releasing hormone pituitary stimulation induced a normal LH release with a very slight FSH increase. Administration of clomiphene citrate successfully induced a normal-length ovulatory cycle. Similarities in the hormonal situation of this patient and that seen in the Stein-Leventhal syndrome are pointed out.

Adolescent↗
PubMed1979

Gerodermia osteodysplastica hereditaria: report of three affected brothers and literature review.

Gerodermia osteodysplastica hereditaria was diagnosed in three Mexican brothers 6, 7, and 8 years old, respectively, who had the distinct facial appearance with sagging cheeks, premature wrinkling of the skin of face, abdomen, and dorsum of hands and feet; malocclusion, span greater than height; hyperextensibility; winging of the scapulae; stooped posture with kyphoscoliosis; protuberant abdomen; and pes planus. Radiologically they had generalized osteoplorosis, platyspondily due to multiple compression fractures, pseudoepiphyses of second metacarpals, and dislocated hips. Three other families with a total of 14 affected individuals have been reported. Inter- and intrafamilial variability can be recognized, particularly regarding the tendency to fractures, upper:lower segment ratio abnormalities, and results of skin biopsies, which have shown fragmentation of the elastic fibers in some cases (including the present family) and not in others. Although inheritance was considered to be X-linked recessive in the first reported family, an analysis of that pedigree together with those of the other reported families, including the present one, suggests that gerodermia osteodrysplastica is inherited in an autosomal recessive manner.

Abnormalities, Multiple↗
PubMed1979

Serum atypical pseudocholinesterase and leprosy.

The frequency of the serum atypical pseudochloinesterase variant was significantly higher (p less than 0.005) in a group of 115 lepromatous leprosy patients than in a comparison group of 133 healthy individuals. This finding corroborates the results obtained in the group of patients from India, and supports the contention that the serum atypical pseudocholinesterase is one of the possible genetic factors involved in susceptibility to leprosy.

Butyrylcholinesterase↗
PubMed1979

Variability between and within laboratories in the analysis of structural chromosomal abnormalities.

The frequency of structural chromosomal aberrations in two samples (AM and PM of the same day) from each of nine normal subjects, cultured in two different laboratories, was studied by six observers. The results were analyzed in order to determine the relative importance of inter- and intralaboratory factors in the variability of chromosomal abnormalities. In addition to the difference in the frequency of the abnormalities between the subjects studied, there were differences due to observers from different laboratories (P less than 0.01), as well as between laboratories (P less than 0.01). These results could be explained in part by insufficient agreement between observers from different laboratories and by differences in the quality of the method used.

Adult↗
PubMed1979

Complex segregation analysis of diabetes mellitus.

Complex segregation analysis was applied to a sample of 12,293 nuclear families each with at least 1 diabetic patient. The families were divided into two groups depending on the proband's treatment: insulin-dependent (IDG) and insulin-independent (IIG). Heterogeneity analysis has revealed a highly significant difference in the IIG group when families were divided into different mating types. The higher recurrence risk was found in the group with affected mothers. Also evidence for a major recessive gene was found in the IGG group, while it was not possible to distinguish between the hypothesis for absence of a major locus and absence of polygenic inheritance in the IDG group. Risks to develop the disease were calculated for a few typical situations.

Adolescent↗
PubMed1979

Frequency of sister chromatid exchanges in severe protein calorie malnutrition.

Nine children with severe protein calorie malnutrition were studied regarding the frequency of sister chromatid exchanges (SCE's) in peripheral blood lymphocytes. The results showed that there was no significant difference between the number of SCE's in the malnourished children as compared to an adequate control group. An interesting finding was that the proportion of 3rd or subsequent division metaphases found in the malnourished children, was higher and significantly different from that seen in the control group.

Adult↗
PubMed1978

A variant glucose-6-phosphate dehydrogenase Gd(-) Chiapas associated with moderate enzyme deficiency and occasional hemolytic anemia.

Erythrocyte glucose-6-phosphate deficiency is an X-chromosomal-linked hereditary trait often associated with hemolytic anemia. This report defines a new variant designated as Gd(-) Chiapas, which was found in a subject with occasional hemolytic jaundice. The red cell enzyme activity of the subject is about 15% of normal. The variant enzyme is thermolabile in vitro and has faster-than-normal anodal electrophoretic mobility and stronger-than-normal substrate affinity. The patient's hemolytic problem might be correlated with instability of the variant enzyme under physiologic stress.

Adult↗
PubMed1978

45,X/47,XYY mosaicism in a patient with Turner's syndrome.

A patient with classical Turner's syndrome and a 45,X/47,XYY mosaicism is described. Each cell line was present in approximately equal amounts in the peripheral blood lymphocytes, while in fibroblasts derived from skin and both gonads only the 45,X karyotype was present. It is suggested that the latter fact is responsible for the patient not having the mixed gonadal dysgenesis syndrome or tumor formation in both streak gonads.

Adult↗
PubMed1978

Intestinal lactase deficiency and milk drinking capacity in the adult.

The milk drinking capacity of 200 adults was determined experimentally and the results correlated with their milk drinking habits and intestinal lactase activity as judged by a lactose tolerance test. Of the group 65.5% were found to have deficient lactase activity and 5.3% experienced severe gastrointestinal symptoms with 250 ml of milk; 28.2% with 500 ml; 26.0% with 750 ml; 15.3% with 1000 ml and 25.2% tolerated the latter amount without difficulty. Of the normal individuals, 92.7% tolerated 1000 ml without symptoms. Intestinal lactase activity seemed to be important in determining the extremes of milk ingestion: four or more glasses per day or no milk ingestion, but had little effect in the intermediate pattern of milk consumption. It is concluded that intestinal lactase deficiency has clinical relevance and should be considered when nutritional supplementation with milk is contemplated.

Adolescent↗
PubMed1978

A new syndrome characterized by mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency.

Mental retardation, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, with a particular facies and shortened fifth finger were found in a 12-year-old Mexican girl. She has six siblings, of whom five have the same characteristics. The parents and the elder sister were not affected, and there was no history of consanguinity. This seems to be a new syndrome, and as both sexes are affected, the parents are normal and several siblings have the same syndrome, we postulate an autosomal recessive mode of inheritance.

Child↗
PubMed1978

Double blind study of milk lactose intolerance.

One hundred and fifty subjects were studied in a double blind fashion to determine the relationship between lactose malabsorption and milk lactose intolerance. Each participant received 250 ml of a different type of milk on 3 consecutive days. Milk A contained no lactose, milk B had 12.5 g, and milk C contained 37.5 g of lactose. After the experiment was completed each subject was classified with a lactose tolerance test as having "sufficient" or "insufficient" lactase activity. Milk A produced no gastrointestinal symptoms in either sufficient or in insufficient persons. Milk B produced symptoms in 3.8% of sufficient and 37.1% of insufficient individuals, and Milk C induced symptoms in 7.6% of sufficient and 83.5% of insufficient subjects. These differences are very highly significant (P less than 0.0001). It is concluded that lactose-intolerant subjects are indeed milk-intolerant and that the frequency with which symptoms occur in persons with lactose malabsorption increases in direct relation to the lactose content of the milk.

Adolescent↗
PubMed1977

A glucose 6-phosphate dehydrogenase Gd (-) Castilla variant characterized by mild deficiency associated with drug-induced hemolytic anemia.

Erythrocyte G-6-PD deficiency is an X-chromosome-linked hereditary trait which is common in many ethnic groups. A deficiency of G-6-PD in red cells is often associated with hemolytic anemia. This report defines a new variant designated as Gd (-) Castilla, which is associated with drug-induced hemolysis. The red cell G-6-PD activity of the variant subject is about 20% of normal. The variant enzyme is thermolabile in vitro and it has faster than normal anodal electrophoretic mobility and normal substrate affinity. The hemolytic problem of the subject might be correlated to sensitivity to NADPH inhibition and molecular instability of the variant enzyme.

Adult↗