Colchester revisited: a genetic study of mental defect.

This reanalysis of a classic survey leads to inferences about design of genetic studies, resolution of heterogeneity, and the role of autosomal and sex-linked genes in mental retardation, which is no longer refractory to segregation analysis. By discriminating between sociofamilial and biological types we estimate that at least 351 autosomal loci can produce mental retardation, with an inbred load of 0.83 detrimental equivalents and a mutation rate of 0.008 per gamete, or less than 2.4 X 10(-5) per locus. The distribution of probands was estimated as: 7 per cent medical, 60 per cent sociofamilial, and 33 per cent biological. Simple genetic mechanisms account for virtually all the biological category. Within the sociofamilial group cultural inheritance and polygenes could not be resolved.     

Effect of endurance and sprint exercise on the sensitivity of glucose metabolism to insulin in the epitrochlearis muscle of sedentary and trained rats

Summary The effects of two types of acute exercise (1 h treadmill running at 20 m· min^–1, or 6 × 10-s periods at 43 m · min^–1, 0° inclination), as well as two training regimes (endurance and sprint) on the sensitivity of epitrochlearis muscle [fast twitch (FT) fibres] to insulin were measured in vitro in rats. The hormone concentration in the incubation medium producing the half maximal stimulation of lactate (la) production and glycogen synthesis was determined and used as an index of the muscle insulin sensitivity. A single period of moderate endurance as well as the sprint-type exercise increased the sensitivity of la production to insulin although the rate of la production enhanced markedly only after sprint exercise at 10 and 100 U· ml^–1 of insulin. These effects persisted for up to 2 h after the termination of exercise. Both types of exercise significantly decreased the muscle glycogen content, causing a moderate enhancement in the insulin-stimulated rates of glycogen synthesis in vitro for up to 2 h after exercise. However, a significant increase in the sensitivity of this process to insulin was found only in the muscle removed 0.25 h after the sprint effort. Training of the sprint and endurance types increased insulin-stimulated rates of glycolysis 24 h after the last period of exercise. The sensitivity of this process to insulin was also increased at this instant. Both types of training increased the basal and maximal rates of glycogen snythesis, as well as the sensitivity of this process to insulin at the 24^th following the last training session. It was concluded that in the epitrochlearis muscle, containing mainly FT fibres, both moderate and intensive exercise (acute and repeated) were effective in increasing sensitivity of glucose utilization to insulin. Thus, the response in this muscle type to increased physical activity differs from that reported previously in the soleus muscle, representing the slow-twitch, oxidative fibres in which sprint exercise did not produce any changes in the muscle insulin sensitivity.     

Ionic liquids in embalming and tissue preservation. Can traditional formalin-fixation be replaced safely?

Ionic liquids (ILs) can be used for embalming and tissue preservation. ILs does not cause tissue damage and the tissue colour remains unaltered after treatment. Microscopical morphology of tissues fixed in ILs is of better quality than that of tissues fixed in formalin. Tissue preservation depends on the type of ILs. Best results were obtained with 1-methyl-3-octyloxymethylimidazolium tetrafluoroborate, the density of which resembles that of water. The salt is nonvaporous and when used as a formalin substitute, it eliminates health hazards in the pathological laboratory.     

The genome of bacteriophage phiKMV,a T7-like virus infecting Pseudomonas aeruginosa

The complete DNA sequence of a new lytic T7-like bacteriophage phiKMV is presented. It is the first genome sequence of a member of the Podoviridae that infects Pseudomonas aeruginosa. The linear G + C-rich (62.3%) double-stranded DNA genome of 42,519 bp has direct terminal repeats of 414 bp and contains 48 open reading frames that are all transcribed from the same strand. Despite absence of homology at the DNA level, 11 of the 48 phiKMV-encoded putative proteins show sequence similarity to known T7-type phage proteins. Eighteen open reading frame products have been assigned, including an RNA polymerase, proteins involved in DNA replication, as well as structural, phage maturation, and lysis proteins. Surprisingly, the major capsid protein completely lacks sequence homology to any known protein. Also, the strong virulence toward many clinical P. aeruginosa isolates and a short replication time make phiKMV attractive for phage therapy or a potential source for antimicrobial proteins.     

Post-pneumonectomy empyemas: causes,clinical course,management

Between 1984 and 2000 in the Thoracic Surgery Centre pneumonectomies were performed in 947 patients. Postpneumonectomy empyema (PE) occurred in 67 (7%) patients. The aim of this paper were: analysis the reasons of postpneumonectomy empyema appearance, defined bacterial flora, clinical course and optimal management. The causes of PE were: pleural cavity haematoma (20 patients-29.8%), wound suppuration (18 patients-26.8%), bronchial fistula (31 patients-46.2%). These complications appeared singly or together in 49 (73.1%) patients. In 2 (3.0%) patients a long treatment in the Intensive Care Unit because of postoperative shock was the cause of infection. In 3 (4.5%) cases the cause of empyema was associated with infection during the operation. In 13(19.4%) cases the cause of empyema was not established. In 55 patients infections of pleural cavities were diagnosed in the first 8 weeks after operations. In 12 patients empyemas were established later. 12 (17.9%) patients died during the analyzed 1 year period after operation. In 18 (26.9%) patients infections were caused by only one bacterial strain and in 49 (73.1%) by two or three bacterial strains. The different methods of treatment (thoracentesis, drainage, operation) depending on general condition of patient were done.     

A study on the establishment of Oesophagostomum dentatum in pigs following percutaneous exposure to third-stage larvae

We examined the possibility of establishment of patent infections after percutaneous exposure of parasite-naive pigs to 10,000 Oesophagostomum dentatum infective larvae (L₃). At 5 weeks after percutaneous exposure the pigs were slaughtered and low numbers of adult O. dentatum were recovered from the large intestine. In addition, exsheathed L₃ were intravenously injected into pigs, which resulted in the recovery of fourth-stage larvae (L₄) from nodules in the lungs as well as of L₄ and adult worms from the large intestine. This study demonstrates the ability of porcine nodular worms to establish in the large intestine when pigs have been exposed percutaneously to infective larvae. It is possible that the larvae reach the large intestine by invading blood veins or the lymphatic system at the site of penetration. Received: 24 February 1998 / Accepted: 13 May 1998     

Symptomatologie und Verlauf der A-Hypervitaminose bei Ratten Infolge Enteraler,Subcutaner und Percutaner Darreichung von Vitamin A-Konzentraten

Ohne ZusammenfassungI. diese Wschr.1938, 777.     

The variability of clinical presentation of chronic obstructive pulmonary disease in patients with hereditary alpha-1 antitrypsin deficiency

Four patients with alpha-1 antitrypsin (alpha-1 AT) deficiency are presented: one woman with severe (phenotype PiZ) and 3 men with moderate (phenotype PiMZ) deficiency of alpha-1 AT. The variability of clinical presentation of hereditary emphysema is described. In all patients tobacco smoking history, spirometric and 6-minutes walking tests as well as HRCT of the lung were performed and compared. The influence of smoking on the functional status is underlined.     

Distribution of ganglionic sympathetic neurons supplying the subcutaneous,perirenal and mesentery fat tissue depots in the pig

Previous morphological studies revealed that the adipose tissue is innervated by adrenergic nerve fibers. Furthermore, physiological studies showed that the metabolism of adipose tissue is controlled by the adrenergic component of the nervous system. However, nothing is known on the sources of innervation of different fat tissue depots. Therefore, we decided to study the distribution of ganglionic sympathetic neurons innervating adipose tissue in the pig by means of a retrograde tracing method. We used 9 male and 9 female pigs of approximately 50 kg body weight. The retrograde tracer, Fast Blue (FB), was injected into the subcutaneous, perirenal and mesentery fat tissue depots. Results of the present study showed that numerous centers of the sympathetic nervous system innervate adipose tissue in the pig. FB+ neurons projecting to the subcutaneous fat tissue were placed in the thoraco-lumbar region of the sympathetic chain ganglia (SChG). However, neurons supplying perirenal and mesentery fat tissue depots were found in both the SChG and prevertebral ganglia (PVG). We conclude that different adipose tissue depots (subcutaneous, perirenal and mesentery) have different sources of innervation and that there is no significant difference in the distribution of neurons innervating adipose tissue in male and female pigs.     

House dust mite allergen avoidance and self-management in allergic patients with asthma: randomised controlled trial

BACKGROUND: The efficacy of bed covers that are impermeable to house dust mites has been disputed. AIM: The aim of the present study was to investigate whether the combination of 'house dust mite impermeable' covers and a self-management plan, based on peak flow values and symptoms, leads to reduced use of inhaled corticosteroids (ICS) than self-management alone. DESIGN OF STUDY: Prospective, randomised, double blind, placebo-controlled trial. SETTING: Primary care in a south-eastern region of the Netherlands. METHOD: Asthma patients aged between 16 and 60 years with a house dust mite allergy requiring ICS were randomised to intervention and placebo groups. They were trained to use a self-management plan based on peak flow and symptoms. After a 3-month training period, the intervention commenced using house dust mite impermeable and placebo bed covers. The follow-up period was 2 years. Primary outcome was the use of ICS; secondary outcomes were peak expiratory flow parameters, asthma control, and symptoms. RESULTS: One hundred and twenty-six patients started the intervention with house dust mite impermeable or placebo bed covers. After 1 and 2 years, significant differences in allergen exposure were found between the intervention and control groups (P<0.001). No significant difference between the intervention and control groups was found in the dose of ICS (P = 0.08), morning peak flow (P = 0.52), peak flow variability (P = 0.36), dyspnoea (P = 0.46), wheezing (P = 0.77), or coughing (P = 0.41). There was no difference in asthma control between the intervention and control groups. CONCLUSION: House dust mite impermeable bed covers combined with self-management do not lead to reduced use of ICS compared with self-management alone.