Energy expenditure and body composition in a hibernator, the alpine marmot.

Visceral organs and tissues of 89 free-living alpine marmots (Marmota marmota) shot during a population control program in Switzerland, were collected. Between emergence from hibernation in April to July, the gastrointestinal tract (stomach to colon) gained 51% of mass and the liver mass increased by 24%. At the same time, the basal metabolic rate (BMR), determined with a portable oxygen analyzer, increased by 18%.

Mitotic disturbance associated with mosaic aneuploidies.

The association of various unsystematic aneuploidies with premature centromere division (PCD) was observed in a patient with conspicuous clinical features and combined immunodeficiency. Trisomies and monosomies of almost all autosomes and gonosomal aberrations were found separately or in combination in a majority of the proband's lymphocytes and fibroblasts. The chromosome number varied from 44 to 50.

DNA haplotypes and frameworks linked to the beta-globin locus in an Austro-Asiatic population with a high prevalence of hemoglobin E.

DNA haplotypes (HT) and frameworks (FW) linked to the beta-globin locus were determined by restriction fragment analysis using eight restriction enzymes on chromosomes bearing the Hb A gene (HBB*A) or the HbE gene (HBB*E) in the So, an Austro-Asiatic population of northeast Thailand with an HBB*E frequency near 0.5. All HBB*E genes were present with FW2, and only two haplotypes were observed (25 HT 27-2, -+- +-; 10 HT 41-2, +----++-).

Frequency of deletional types of alpha-thalassemia in Kampuchea.

The frequency of deletional types of alpha-thalassemias in the Khmer population of Kampuchea (Cambodia) was estimated using DNA techniques. Among 58 healthy adult Kampucheans from rural areas, 17 had alpha-globin gene anomalies. There were 14 heterozygotes and two homozygotes for alpha(+)-thalassemia; the remaining test subject carried a deletion of both alpha-globin genes (alpha(0) -thalassemia of the Southeast Asian type) on one chromosome 16, and triple alpha-globin genes on the other.

The hemoglobin E belt at the Thailand-Kampuchea border: ethnic and environmental determinants of hemoglobin E and beta-thalassemia gene frequencies.

The frequencies of the hemoglobin E gene (HBB*E) and the beta-thalassemia gene(s) (HBB*T) were determined in 890 healthy adult males from three areas at the Thai-Kampuchean border in Northeastern Thailand. The population of the three study areas differs ethnically: area I is inhabited by Khmer-speaking people, area II has an ethnically mixed population (Tai-Lao, Soui and Khmer), and area III is predominantly Lao. In view of the topographic differences in malaria endemicity in the pre-eradication era, the probands from the three study areas were divided into subgroups "hills" and "plains" according to the location of their home villages.

Distribution of hemoglobin E and beta-thalassemia in Kampuchea (Cambodia).

The hemoglobin type of 360 adult Cambodian subjects was determined by cellulose acetate electrophoresis and microcolumn chromatography. The following distributions and frequencies of the Hb E (beta E) and the beta-thalassemia (beta-thal) genes were found: in a group of 264 Cambodians of rural areas 153 Hb A, 83 Hb AE, 19 Hb E, and nine beta-thalassemia minor (frequency beta E 0.2292, beta-thal 0.

Pulmonary hydrogen and methane excretion following ingestion of an unabsorbable carbohydrate: a study of twins.

Pulmonary excretion of hydrogen and methane after administration of an unabsorbable disaccharide (lactulose) was determined in 228 adult Hungarian twins, 60 monozygous (MZ) and 54 dizygous (DZ) pairs. More than 98% of the subjects (224 of 228) excreted large amounts of hydrogen between 90 and 180 min after lactulose administration. Methane excretion in the fasting state was observed in 124 of 228 of the probands (54.

Acrofacial dysplasia resembling geleophysic dysplasia.

We report on a 12-year-old girl with acrofacial dysplasia, growth retardation, joint contractures, mitral valve incompetence and focal hepatic storage of material reacting histochemically as glycoprotein. The patient's phenotype resembles that of patients with geleophysic dysplasia but differs with respect to facial appearance, milder changes of hand bones and normal capital femoral epiphyses. It is undecided if her disorder is part of a wider phenotypic spectrum of geleophysic dysplasia or a different entity.

Prevalence of primary adult lactose malabsorption in Poland.

Lactose-absorption capacity was examined in 275 apparently healthy Polish adolescents and adults (214 females and 61 males with an average age of 29.1 years) using a field version of the lactose-tolerance test with breath hydrogen determination. In the total group, 172 lactose absorbers (62.

Optiz trigonocephaly syndrome: report of two cases.

We report two patients with Opitz trigonocephaly syndrome. Both children showed the pattern of abnormal findings characteristic of this syndrome, including trigonocephaly, upslanted palpebral fissures, inner epicanthic folds, broad alveolar ridges, small chin, short neck with loose skin, muscular hypotonia and cardiac defect. An 8-week-old girl had multiple gingival frenula, brachydactyly, syndactyly of toes and anal stenosis in addition, while a boy who died at 28 h from cardiac failure showed multiple joint contractures, cryptorchidism and renal cortical cysts.

Prevalence of primary adult lactose malabsorption and awareness of milk intolerance in Italy.

A total of 308 healthy Italian adults (192 females, 116 males; mean age 29.2 yr) were examined using a field version of the lactose tolerance test with breath hydrogen determination. Two geographical groups were formed according to the birth places of the probands' grandparents: 208 subjects from northern Italy (mainly from the regions of Piemonte, Lombardia, and Veneto) and 100 probands from Sicily.

Segregation of two independent chromosomal translocations in one family.

A family with two independent reciprocal translocations t(3;19) and t(16;22) is described. The proband, a 4-week-old male, was phenotypically conspicuous with multiple congenital anomalies. Cytogenetic examination revealed a balanced reciprocal translocation (3;19) and a supernumerary small marker chromosome.

A study of lactose absorption capacity in twins.

Lactose absorption capacity was determined by lactose tolerance tests with breath hydrogen determination in 102 healthy, adult, Hungarian pairs of twins in order to test monogenic Mendelian inheritance of the absorptive lactase phenotypes, lactose absorber and lactose malabsorber. Of the total, 52 pairs were monozygous (MZ) and 50 dizygous (DZ) twins of identical sex. All MZ twins were concordant with respect to lactase phenotype.

Prevalence of primary adult lactose malabsorption in three populations of northern China.

Lactose absorption capacity was examined in 641 apparently healthy adolescents and adults (447 males and 194 females with an average age of 22.9 years and an age range of 16-46 years) using a field version of the lactose tolerance test with breath hydrogen determination. In the total sample, 89 lactose absorbers and 552 lactose malabsorbers were identified.

Prevalence of primary adult lactose malabsorption in Hungary.

Lactose absorption capacity was estimated in 820 apparently healthy, well nourished, Hungarian adults and adolescents (560 females, 260 males, aged 16-54 years) using a field version of the lactose tolerance test with breath hydrogen determination. The test identified 497 lactose absorbers with low, and 323 lactose malabsorbers with high hydrogen excretion 120-150 min after an oral load of 50 g lactose. The prevalence of lactose malabsorption in the general Hungarian sample (n = 535) was 37%.

Beja and Nilotes: nomadic pastoralist groups in the Sudan with opposite distributions of the adult lactase phenotypes.

Lactose tolerance tests with breath hydrogen determination were performed on 585 apparently healthy adolescents and adults in the Democratic Republic of the Sudan. Out of the total, 303 probands belong to the tribal group Beja, traditional nomadic pastoralists in the desert zone between the Nile and the Red Sea. The 282 Nilotes (mainly Dinka) are members of seminomadic cattle breeding tribes in the south of the Sudan.

[Fragile X chromosome and X-linked mental retardation (author's transl)].

In males affected by a special form of X-linked mental retardation a characteristic chromosomal abnormality can be demonstrated, - i.e. a fragile site on the long arm of the X chromosome, fra(X) (q27 or 28) (marker-X chromosome).

Distribution of physiological adult lactase phenotypes, lactose absorber and malabsorber, in Germany.

A total of 1805 apparently healthy, adult and adolescent Germans (1572 males and 233 females with a mean age of 20.3 years) were examined for lactose absorption capacity employing a field version of the breath hydrogen (H2) test. The diagnostic parameter, maximal change of breath hydrogen concentration 120 or 150 min after a load of 50 g lactose, showed a bimodal distribution, separating lactose absorbers (n = 1537, 85.

Distribution of human adult lactose phenotypes in Egypt.

Lactose absorption was studied in 570 health adolescent and adult males in Egypt. Employing a field version of the noninvasive hydrogen breath test, 156 (27.4%) lactose absorbers and 414 (72.

Preferential maternal derivation in inv dup(15): analysis of eight new cases.

Eight patients are reported with a de novo extra inverted duplicated chromosome 15. The abnormal chromosome was considered to be the same in all cases, but its precise delineation remained uncertain and was defined as either 15pter leads to 15q12::15q12 leads to 15pter or 15pter leads to 15q11::15q13 leads to 15pter. Analysis with various techniques of the satellite regions of the bisatellited chromosomes demonstrated maternal derivation in six and paternal derivation in one of the seven families.

Population screening for beta-thalassaemia.

The graphic recording of time to 50% haemolysis in a glycerine-saline solution is a simple, reproducible method of determining erythrocyte osmotic fragility. Studies on a normal population yielded an upper limit of normal of 90 s. In 250 healthy males from Northern Thailand all 19 with beta-thalassaemia minor had abnormal osmotic indices, and the value of the test was confirmed in beta-thalassaemia heterozygotes in Europe.