The Organically Handicapped Child—How Can the Family Physician Help?

The better his understanding of some of the ways in which an organic deficit might affect normal development of the handicapped child, the more able the family physician will be to offer guidance to the family aimed at preventing the development of secondary problems. He can thus be instrumental in helping a child achieve his maximal potential.First, it is important to take into account how the parents'' emotional and intellectual responses to having a defective child may interfere markedly in normal parent-child relationship. Second, ways in which each deficit will limit a child''s exposure to stimuli must not be over-looked. Third, one must consider how a deficit may indirectly distort the normal learning patterns when parents do not make age appropriate demands. Fourth, it is important to understand how specific interference in the area of language skills may cause further developmental retardation. Fifth, one must be aware of special problems that an organically handicapped child must face in the society outside of the family. Last of all, in an older child, one must consider the need for a full scale evaluation to sort out primary and secondary factors in the picture.     

Veränderungen am Hauptstück und peritubulären Kapillaren der Rattenniere nach Hypophysektomie

Zusammenfassung Das Hauptstück des Nephrons hypophysektomierter Ratten wurde elektronenmikroskopisch untersucht. Nach Entfernung der Hypophyse treten folgende Veränderungen auf: Zwischen normal dichten (hellen) Hauptstückzellen erscheinen sog. Dunkle, Zellen, deren Cytoplasma eine hohe Elektronendichte aufweist. Dazwischen finden sich Übergangsformen, deren basale Einfaltungen wie bei den dunklen Zellen erweitert sind. Diese Zellformen unterscheiden sich auch durch die Struktur ihrer Mitochondrien. In den hellen und mitteldichten Zellen sind die Membranteile der basalen Einfaltungen verändert. Es kommt unter Auflösung der cytoplasmatischen Matrix zur Verschmelzung von Membranabschnitten des ER und der Zellmembran. Schließlich bilden sich lamellierte Einschlußkörper, die in die Nähe des Kernes wandern. Analoge Veränderungen der Membranen des Bürstensaumes wurden nur bei den Übergangszellen gesehen. Die Einschlußkörper liegen hier im Zellapex; sie werden als Cytolysosomen betrachtet. Der Bürstensaum der hellen Zellen weist keinen intervillösen Raum auf, weil die Membranen benachbarter Mikrovilli miteinander verschmolzen sind. Die Weite des intervillösen Spaltes wächst mit der Dichte der Zellen. Daneben wurden auch Veränderungen der Basalmembran und der Kapillarwand beobachtet. Am auffälligsten ist die Abschnürung von membranbegrenzten Gebilden von der Lumenoberfläche des Endothels (1 oder 2 Außenmembranen, gekammerte oder mehrphasische Formen). Auflösung der cytoplasmatischen Matrix, Membranverschmelzungen und Abschnürung durch Vesikulation sind an der Bildung beteiligt. Die Veränderungen nach Hypophysektomie werden auf das Fehlen von Nebennierenrindenhormon zurückgeführt.

---

Summary Following hypophysectomy changes in proximal convoluted tubules and their capillaries are observed in the rat kidney. Three types of epithelial cells are present: bright, dark and transitional cells. The basal infoldings and the spaces between the microvilli of the brush border are dilated in the dark cells. In bright and transitional cells the membranes of ER and cell membrane fuse; whorls occur in the cytoplasm. Transitional cells show similar changes in the cell apex. In the bright cells the spaces between the microvilli disappear and the outer membrane lamellae form an external compound membrane (Robertson). The capillary endothelium shows vacuoles which are pinched off from the inner surface. Different forms (one or two enveloping membranes, subdivided and polyphasic forms) are observed. Pinching off is caused by vesiculation. Since adrenalectomy is followed by similar alteration of the epithelial cells and capillaries it is suggested that hypophysectomy affects the kidney indirectly by the lack of adrenal hormones.

     

The search for new industrial crops

Advances in technological development have produced an ever-increasing pressure for new and different raw materials to keep pace with changing industrial needs. Many new and useful properties of plants may be discovered through the modern chemistry and technology of utilization research. The U. S. Department of Agriculture’s search for new industrial crops is a coordinated botanical and utilization research program.     

Analysis of chromosome 22 deletions in neurofibromatosis type 2-related tumors.

The neurofibromatosis type 2 (NF2) gene has been hypothesized to be a recessive tumor suppressor, with mutations at the same locus on chromosome 22 that lead to NF2 also leading to sporadic tumors of the types seen in NF2. Flanking markers for this gene have previously been defined as D22S1 centromeric and D22S28 telomeric. Identification of subregions of this interval that are consistently rearranged in the NF2-related tumors would aid in better defining the disease locus. To this end, we have compared tumor and constitutional DNAs, isolated from 39 unrelated patients with sporadic and NF2-associated acoustic neuromas, meningiomas, schwannomas, and ependymomas, at eight polymorphic loci on chromosome 22. Two of the tumors studied revealed loss-of-heterozygosity patterns, which is consistent with the presence of chromosome 22 terminal deletions. By using additional polymorphic markers, the terminal deletion breakpoint found in one of the tumors, an acoustic neuroma from an NF2 patient, was mapped within the previously defined NF2 region. The breakpoint occurred between the haplotyped markers D22S41/D22S46 and D22S56. This finding redefines the proximal flanking marker and localizes the NF2 gene between markers D22S41/D22S46 and D22S28. In addition, we identified a sporadic acoustic neuroma that reveals a loss-of-heterozygosity pattern consistent with mitotic recombination or deletion and reduplication, which are mechanisms not previously seen in studies of these tumors. This finding, while inconsistent with models of tumorigenesis that invoke single deletions and their gene-dosage effects, lends further support to the recessive tumor-suppressor model.     

Characterization of Robertsonian translocations by using fluorescence in situ hybridization.

Fluorescence in situ hybridization with five biotin-labeled probes (three alphoid probes, a probe specific for beta-satellite sequences in all acrocentric chromosomes, and an rDNA probe) was used to characterize 30 different Robertsonian translocations, including three t(13;13); one t(15;15), four t(21;21), three t(13;14), two t(13;15), two (13;21), two t(13;22), one t(14;15), eight t(14;21), two t(14;22), and two t(21;22). Of 8 de novo homologous translocations, only one t(13;13) chromosome was interpreted as dicentric, while 19 of 22 nonhomologous Robertsonian translocations were dicentric. The three monocentric nonhomologous translocations included both of the t(13;21) and one t(21;22). Two of 26 translocations studied using the beta-satellite probe showed a positive signal, while rDNA was undetectable in 10 cases studied. These results indicate that most homologous Robertsonian translocations appear monocentric, while the bulk of nonhomologous translocations show two alphoid signals. A majority of the breakpoints localized using this analysis seem to be distal to the centromere and just proximal to the beta-satellite and nuclear-organizing regions.