The cerebro-hepato-renal (Zellweger) syndrome: lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma

Clinical, radiological, histological and biochemical aspects of two cases of cerebro-hepato-renal syndrome (CHRS) are reported. CT scan disclosed a demyelinating process and gyral abnormalities reflecting the observed neuropathological findings. Trilamellar and lamellar inclusions were found in brain astrocytes, hepatic mesenchymal and adrenal cells. The morphologic features of these inclusions are similar to those observed in childhood adrenoleukodystrophy, neonatal adrenoleukodystrophy and infantile Refsum's disease. In the two CHRS patients, increased plasma levels of very long chain fatty acids (C26:1, C26:0) and phytanic acid were in the same range as those observed in seven other instances of neonatal adrenoleukodystrophy. The presence of increased plasma levels of phytanic acid in these disorders suggests that phytanate oxidase activity is, at least, partially located in peroxisomes.     

Longitudinal study of rotavirus infection in child-care centres

To describe the epidemiology of symptomatic and asymptomatic rotavirus infection among young children attending Sydney child-care centres during the 1994 rotavirus season.

Methods:

Children aged 0–36 months in 11 child-care centres participated in the study. A weekly stool specimen was collected from each subject and tested for rotavirus antigen by commercial enzyme immunoassay.

Results:

One hundred and seventy-eight children (76 girls and 102 boys) with a mean age of 18.2 ± 6.5 (SD) months were enrolled for a total of 2249 child-weeks. Of 1653 weekly faecal specimens, 59 (3.6%) were positive for rotavirus antigen. Positivity for rotavirus antigen peaked at 8.0% and 7.4% of specimens in weeks 6 and 7, respectively. The 59 positive specimens were obtained from 44 children in eight of the 11 study centres. One child appeared to suffer a second episode. Eighty-two per cent of episodes were associated with symptoms of gastroenteritis. Overall, 32% of the children in the eight affected centres were infected; 52% of those <12 months were infected compared to 26% of older children. Secondary spread to household contacts was also documented.

Conclusions:

Rotavirus infection poses a significant health problem in under-3-year-old children attending child-care centres in Sydney. We believe that these results are applicable to all Australian children of this age attending group child care.     

Sexology]

Whatever type of practice he may have, the physician is confronted daily with an increasingly important demand for help concerning sexual problems, be they "masked" in terms of functional symptomatology, or be they openly "verbalised" as sexual difficulties. Possessing no real sexological backround, and having merely heard of "methods", without knowing either their bases or their qualities, the physician is not capable of responding in more than a minimally effective manner. Confronted with this need, american researchers have perfected, with Masters and Johnson, new techniques which have been borne out by their statistical results. The originality of these techniques lies in their being carried out by a couple, centered around the relation of the solliciting couple, and aiming at a psychosensorial reeducation. If the application of such methods, as well as sexology research and training, is still timid in Western Europe, their importance is no way lessened. They represent, in fact, for the psychiatrist, a new way of approaching sexuality, by means of: --medical team work; --"manipulation" of body language; --and perhaps, also... reality.     

Substituted benzamides]

The comparison of the therapeutic effects of three molecules belonging to the substituted benzamide family allows the following observations: --the three products are generally well tolerated by the organism; --at sufficient doses they act as a major tranquilizers: -sulpiride is chiefly a disinhibitor but also has antipsychotic properties; -sultopride is at first somewhat sedative, especially when given parenterally, then antipsychotic, and little by little desinhibiting; -GRI 16-65 is "soothing", "euphoriant", "sociabilizing", as well as antipsychotic. Effect of reintegration in reality seems to constitute a common characteristic of these three products.     

Déficit en alpha-1-antitrypsine chez l'enfant

Summary Fourteen liver biopsies from twelve young patients with liver diseases associated with homozygous, PiZZ phenotype, alpha-1-antitrypsin deficiency in their sera were examined by electron microscopy.In all these biopsies characteristic homogeneous material was found in some hepatocytes and corresponded, when observed on adjacent semithin sections by light microscopy, to the deposit stained by periodic acid Schiff reaction. The accumulation in perinuclear spaces resulted in intranuclear invaginations, but the major deposit was located in lumens of the endoplasmic reticulum. The limiting membranes were rough and smooth but the extent of the latter was so large that only this type of reticulum seemed peculiarly involved in the accumulating process.On the contrary, Golgi complexes did not seen obligatorily involved by this process because, when observed, they appeared almost normal even in heavily overloaded liver cells.At least for the PiZZ phenotype, the abnormal substance would be an asialo form of normal alpha-1-antitrypsin. Thus the subject of this study is the morphologic translation of an impairment in the synthesis of a glycoprotein.In the light of data concerning the synthesis of such proteins our findings lead us to suggest:The ultrastructural patterns observed in alpha-1-antitrypsin deficiency cannot give the expected morphologic evidence of the biochemical data which locate the first binding steps of monosaccharide residues in the rough endoplasmic reticulum.The absence of sialic acid could not result from an enzymatic defect primarily located in Golgi complexes but could be secondary to an impairment in the binding of one monosaccharide residue which improves subsequent fixation of sialic acid, in the smooth endoplasmic reticulum.Finally it seems necessary to emphasize that the relationship between the abnormal substance and various important non specific lesions is largely unknown and that we don't know the significance of polymorphous dense bodies observed in ductular cells during the cholestatic period.

     

Professional mammographic quality assessment program for a community hospital

The evaluation of mammographic interpretations is a difficult challenge for a professional quality assessment program. As most images are read by a single observer and pathologic proof is obtained only if prompted by the report or if clinical symptoms warrant surgical intervention, it is difficult to construct a meaningful quality assessment program. The authors designed a program on the basis of a mammographic coding system that allows both individual physicians and practice groups to be evaluated. The program examines mammographic reports to determine the consistency of reporting by each physician and by the entire group. In addition, the program facilitated periodic evaluation of physicians with use of test cases. The coding system provided an easy method of correlating the mammographic reports with pathology reports from biopsy specimens, allowing a more thorough examination of possible systematic errors in the evaluation of the examinations, as well as enabling calculation of the positive predictive value for the diagnosis of cancer. The professional quality assessment program can be easily implemented in a busy clinical setting to evaluate whether mammograms were read consistently and "correctly" and to provide a method of continuing education for the physicians.