Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

Charcot-Marie-Tooth disease type 1a (CMT 1a) is an autosomal dominant peripheral neuropathy linked to the DNA markers D17S58 and D17S71, located in the pericentromeric region of the chromosome 17p arm. We analyzed an extended 5-generation Belgian family, multiply affected with CMT 1a, for linkage with eight chromosome 17 markers. The results indicated that the CMT 1a mutation is localized in the chromosomal region 17p11.2-p12 between the marker D17S71 and the gene for myosin heavy polypeptide 2 of adult skeletal muscle.     

Blastomycosis: Report of the first case from Alberta,Canada

The first known case of laboratory confirmed blastomycosis in Alberta occurred in 1970. The patient, who is believed never to have left Alberta, presented with of headaches, sore neck and impaired intellect. Initially, tuberculous or cryptococcal meningitis was suspected, but laboratory findings did not support the diagnosis. A fungus resembling Blastomyces dermatitidis was isolated from the venticular cerebrospinal fluid and lung at autopsy. A few yeast cells suggestive of B. dermatitidis were seen in lung and brain tissue sections. Initial attempts at in vitro conversion of the mycelial form of the isolate into yeast form on several enriched media were unsuccessful. The fungus gave ± to ++ reactions with B. dermatitidis specific conjugate by the direct fluorescent antibody technique, it was not pathogenic for mice and guinea pigs, and no asexual spores were produced in slide cultures. Further investigation indicated that the mycelial form of the fungus converted into its yeast form when an actively growing inoculum was used, although the yeast cells varied considerably in size. The yeast form produced disseminated infection in mice within 10 days. Exoantigenic analysis demonstrated an A antigen specific for B. dermatitidis, which revealed the identity of this organism as an atypical strain of B. dermatitidis.

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Zusammenfassung Der erste Fall in Blastomycosis von einem Laboratorium wurde 1970 in Alberta bestätigt. Der Patient — der wahrscheinlich Alberta nie verlassen hat — klagte über Kopfschmerzen, Genickschmerzen und zeigte beeinträchtigte Verstand. Anfänglich wurde TBC — oder cryptococcal meningitis vermutet, laborfunde unterstutzten jedoch nicht die Diagnose. Ein Fungus — ahnlich zum Blastomyces dermatitidis wurde von venticular cerebrospinal Flüssigkeit und von der Lunge nach der Autopsie isoliert. Wenige Hefezellen hinweisend auf B. dermatitidis wurden gewebschnitten von Lunge und Gehirn festgestellt. Anfängliche Versuche die isolierten mycel Form in die Hefe Form in vitro mit Hilfe verschiedener angereicherter Nahrboden was erfolglos. Der Fungus ergab in der Direct Fluorescent Antibody Technik. ± zu ++ Reaktion mit dem B. dermatitidis specifische Konjugate; es war nicht pathogen fur Mause und Meerschweinchen, asexual Sporen wurden in der objecttrage Kultur produziert. Weitere Untersuchungen zeigten, dass sich die mycel Form des Fungus in die Hefeform umwandelte wenn ein gut wachsendes Inoculum gebraucht wurde. Die Hefezellen zeigten jedoch beträchtliche Grossenunterschiede. Die Hefeform verursachte in Mauseneine generallisierte Infektion in inerhalb von 10 Tagen. Exoantigenik Analyse zeigte ein A Antigen, specifisch für B. dermatitidis, welches die Identität des Organismus als atypischen Stamm des B. dermatitidis aufwies.

     

Mutation rates of structural chromosome rearrangements in man.

The gametic mutation rates of human structural chromosome rearrangements have been estimated from rearrangements ascertained from systematic surveys of live births and spontaneous abortions. The mutation rates for rearrangements that survive long enough to give rise to clinically recognized pregnancies are 2.20 X 10(-4) for balanced rearrangements, 3.54 X 10(-4) for unbalanced Robertsonian translocations, and 3.42 X 10(-4) for unbalanced non-Robertsonian rearrangements. These estimates give a mutation rate for all detectable structural chromosome rearrangements of approximately 1 X 10(-3). The most common single rearrangement, the Robertsonian translocation involving chromosomes 13 and 14, has a mutation rate of 1.5 X 10(-4).     

Changes in serum amylase and its isoenzymes after whole body irradiation.

A study was carried out to assess the effect of total body irradiation on pancreatic and parotid isoenzymes of amylase in patients about to undergo bone-marrow transplantation who had received high-dose cyclophosphamide. Twelve patients were studied, enzyme activity being measured before and at various times after total body irradiation. Serum total amylase activity rose rapidly within 12 hours of irradiation to a maximum at 36 hours, returning to normal by six days; most of the increase was derived from salivary damage, with a much smaller pancreatic component. These results confirm that radiation produces acute changes in amylase activity, which may be of use in assessing radiation-induced damage.     

Vimentin and 70K Neurofilament Protein Co-exist in Embryonic Neurones from Spinal Ganglia

Abstract: The mesenchymal intermediate filament protein vimentin and the 70K component of neurofilament were detected by two-dimensional gel electrophoresis in cultures of pure sensory and sympathetic neurones derived from chick embryos. The identities of these neuronal intermediate filament proteins were confirmed by comparison of their molecular weights, isoelectric points, and peptide patterns from limited papain digestions with those of the corresponding proteins from fibroblasts and brain, respectively. A specific antibody to vimentin stained filamenteous structures and colcemid-induced coils in both neurones and associated satellite cells. In contrast, a specific antibody to the 70K neurofilament protein stained these structures solely in neurones. This neurone-specific staining, as well as its molecular weight and isoelectric point, distinguishes the 70K neurofilament protein from the 68K neurofilament as sociated protein described by others, which has been claimed to resemble the tubulin assembly protein.     

Assembly of vesicular stomatitis virus: distribution of the glycoprotein on the surface of infected cells.

This study demonstrates that the glycoprotein of vesicular stomatitis virus clusters in the plasma membrane of infected Chinese hamster lung cells during morphogenesis and suggests that viral nucleocapsids are required for this clustering. A mutant virus (ts E-1) which is temperature sensitive for the synthesis of viral nucleocapsids but not viral membrane proteins was used. The surface distribution of the viral glycoprotein in cells infected by this virus was determined by a specific indirect immunoferritin stain. Early in infection at permissive temperatures, the glycoprotein was randomly distributed on membrane ghosts. Later, clusters of ferritin the size and shape of virus particles were seen. In contrast, ghosts prepared from virus-infected cells maintained at a restrictive temperature always had a random distribution of viral glycoprotein.     

Effect of neurotensin on pancreatic function in man

The effect of neurotensin on submaximally-stimulated hepatobiliary and pancreatic secretion was studied in 6 healthy subjects. An intravenous infusion of neurotensin 1.4 ± 0.3 pmol/kg/min, designed to reproduce plasma neurotensin immunoreactivity levels within the physiological range, produced a significant increase in pancreatic bicarbonate output. Plasma concentrations of pancreatic polypeptide rose by 83 ± 16 pmol/l and were associated with a small reduction in trypsin, but no significant change in bilirubin outputs.     

Circadian morphometric variation in gastric parietal cell populations of the rat

Summary Gastric parietal cells of rats maintained under standardized conditions and fed ad libitum were examined by electron microscopy at 6 time points of the 24-h day. Morphometric determinations were made on 4 cell characteristics. The volume density of secretory canaliculi was maximal at the mid-dark sampling point and decreased during the light phase; a secondary peak was seen 1 h before the onset of darkness. The surface density of microvesicles and RER fluctuated inversely with the pattern displayed by secretory canaliculi. The number of multivesicular bodies per cytoplasmic area exhibited a single peak, 1 h after the onset of darkness. It was further noted that parietal cells in the necks and bases of glands differed morphologically and that their organelle populations varied at individual circadian rates.