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Biomedical subjects

M Geisler

Publications and source records attributed to M Geisler.

At least 37 records · Page 2Linked to original sources

Differential regulation of transcription of human 7 S K and 7 S L RNA genes.

Two functional human genes coding for 7 S RNA species K and L were analyzed for promoter requirements by in vitro transcription experiments with cytoplasmic S-100 extracts. Since accurate and efficient transcription of both genes is dependent on the presence of 5'-flanking sequences, hybrid genes representing crossover fusions between the 5' external control regions and the coding sequences of both genes were analyzed for their capacity to direct RNA synthesis in vitro. Differing results were obtained with both types of constructs. While the 5'-flanking L-7 S K gene fusion revealed no activity in the in vitro transcription assay, the 5'-flanking sequence of the 7 S K RNA gene did confer the ability for accurate in vitro transcription to the 7 S L coding sequence. However, a 5'-flanking L sequence element including the first 22 nucleotides of the 7 S L RNA coding sequence was active in promoting transcription of the 7 S K RNA gene. Together, these results demonstrated that the 7 S L promoter is located inside and outside the coding region, whereas the 7 S K RNA gene is exclusively controlled by an upstream promoter element.

Base Sequence↗

Know your cholesterol: population screening.

To facilitate the goal that all adult Americans know their total serum cholesterol levels, our specific aim was to evaluate the effectiveness, practicality, and cost of total cholesterol sampling in nonfasting self-referred subjects with use of venous blood and mailed results (n = 3844), and to compare these results with capillary blood total cholesterol levels (n = 1167), with immediate turnaround. We used consensus cut points of total cholesterol levels greater than 200, greater than 220, and greater than 240 mg/dl for moderate risk of coronary heart disease and greater than 220, greater than 240, and greater than 260 for high risk for aged 20 through 29, 30 through 39, and greater than 40 years. Total cholesterol level was in the moderate- or high-risk range in 45% and 37% of the venous and capillary cohorts, respectively. Median venous and capillary total cholesterol values were approximately 20 and 10 mg/dl greater than the total cholesterol values in the Lipid Research Clinics Prevalence Study, a difference contributed to by nonfasting versus fasting conditions, use of serum versus plasma, and self-referral bias for subjects with a family history of premature coronary heart disease. The cost per subject in the venous and capillary studies was $5.09 and $7.12 respectively, and $11.40 and $ 18.63 for each subject in the moderate- to high-risk range. Resampling with the subject fasting and follow-up were stressed, and were made available for moderate- and high-risk subjects.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families.

A syndrome due to 3:1 meiotic segregation of balanced 11/22 translocation is defined from nine personally observed patients and 22 cases from the literature with apparently the same aberration. Frequent findings include a characteristic face with deep-set eyes, flat nose, prominent upper lip, receding mandible and preauricular pits or tags, male genital hypoplasia, anal atresia or other anomalies of the anus, cleft palate, and congenital heart defect. Less frequent are severe reduction of the auricles, an additional pair of ribs, and hypoplasia of the diaphragm. Perinatal mortality is high. Growth is usually and psychomotor development is invariably and severely delayed. Balanced 11/22 translocations are apparently disproportionally frequent; as the balanced rearrangement is not easy to detect, it is important to be aware of it at the family investigation of cases with extra chromosomes similar to a No. 22 or 22q-. The unbalanced products are most probably trisomic for both a segment of 22 (22q-) and a distal segment of 11q; the exact determination of the breakpoints is not possible at present due to the similar banding characteristics of the two segments involved in the translocation.

Abnormalities, Multiple↗

Cytogenetic and histologic analyses of spontaneous abortions.

In a study of spontaneous abortions the correlations between karyotype (166 cases), anamnestic data, and macroscopic and histologic findings in placentas (107 cases) and embryos (73 cases) were analyzed. The main results were: 1. The rate of chromosomal aberrations was 39%. Trisomies predominated (60%), followed by monosomy X (20%), triploidies (14%), and structural aberrations (6%). 2. In trisomies a clear prevalence of female sex constitution (2:1) was observed. In normal karyotypes a slight prevalence of females was seen (1.2:1). 3. With increasing maternal age, more trisomies were found in the abortions. 4. Women whose index abortion had a normal karyotype had a history of fewer births but more abortions. 5. Trisomies of acrocentric chromosomes were mainly chorionic sacs with an embryo, while trisomies of the other autosomes resulted in intact empty sacs. 6. The average developmental stage of the embryos was 5 weeks, with a mean gestational age of 14 weeks. Gross malformations were found in 58% of the embryos.

Abnormalities, Multiple↗

Histological analysis of spontaneous abortions with trisomy 2: first description of an embryo.

Three spontaneous abortions with trisomy 2 were analyzed histologically. In one of these, beside chorionic membranes and villi, yolk sac, yolk stalk, body stalk and an embryo are described. Concerning the development stage there seems to be an order; villi and body stalk (16 days), embryo (end of 3rd week to beginning of 4th week) and yolk sac with yolk stalk (2nd half of 4th week).

Abortion, Missed↗