Gonadal dysgenesis with 45,X/46,X,dic(Yp) mosaicism

A female patient with a gonodal mucinous cystadenoma on the right side and a gonado-blastoma on the left was found to be a 45,X/46,X,dic (Yp) mosaic, This brings the total number of cases with dicentric Y chromosome reported to date to 23.
Together with the available evidence, the information derived from this case supports the hypothesis that the gene on the long arm of the Y chromosome is responsible for the initiation of testicular differentiation, whereas that on the short arm is responsible for the maturation of the testes.     

Y chromosome microdeletions, in azoospermic or near-azoospermic subjects, are located in the AZFc (DAZ) subregion

Submicroscopic deletions of the Y chromosome and polymorphisms of the androgen receptor (AR) gene in the X chromosome have been observed in men with defective spermatogenesis. To further define the subregions/genes in the Y chromosome causing male infertility and its relationship to polymorphisms of the AR polyglutamine tract, we screened the genomic DNA of 202 subfertile males and 101 healthy fertile controls of predominantly Chinese ethnic origin. Y microdeletions were examined with 16 sequence-tagged site (STS) probes, including the RBM and DAZ genes, spanning the AZFb and AZFc subregions of Yq11, and related to the size of trinucleotide repeat encoding the AR polyglutamine tract. Y microdeletions were detected and confirmed in three out of 44 (6.8%) of azoospermic and three out of 86 (3.5%) severely oligozoospermic patients. No deletions were detected in any of the patients with sperm counts of >0.5 x 10(6)/ml, nor in any of the 101 fertile controls. All six affected patients had almost contiguous Y microdeletions spanning the entire AZFc region including the DAZ gene. The AZFb region, containing the RBM1 gene, was intact in five of the six subjects. Y deletions were not found in those with long AR polyglutamine tracts. Our study, the first in a Chinese population, suggest a cause and effect relationship between Y microdeletions in the AZFc region (possibly DAZ), and azoospermia or near-azoospermia. Y microdeletions and long AR polyglutamine tracts appear to be independent contributors to male infertility.      

Evidence for reactive synaptogenesis in the ventrolateral thalamus and red nucleus of the rat: changes in high affinity glutamate uptake and numbers of corticofugal fiber terminals

Summary High affinity glutamate uptake into corticofugal fiber terminals was measured in the ventrolateral thalamus and red nucleus at varying time intervals after lesions were made by kainic acid in the contralateral interpositus nucleus of the cerebellum in rats. Under similar conditions the density of cortical fiber terminals was estimated using the Fink-Heimer impregnation technique. 1. Glutamate uptake steadily increased in the ventrolateral thalamus up to 60 days after lesions in the contralateral cerebellum. 2. Similar changes were noted in the red nucleus. 3. The changes were dependent on the integrity of corticofugal fibers to the thalamus and red nucleus. 4. No changes in uptake of gammaaminobutyric acid were noted. 5. Saturation curves for glutamate uptake suggested a change in the maximal number of transport sites. 6. Fink-Heimer degeneration studies showed an increase in cortical terminals in the ipsilateral ventrolateral thalamus and in both rostral and caudal regions of the red nucleus following lesions in the contralateral interpositus nucleus. The data are consistent with an increase in the number of cortical fiber terminals in reaction to loss of cerebellar input to the ventrolateral thalamus and red nucleus. This study correlates anatomical and biochemical evidence for collateral sprouting in a model based on electrophysiologic data in the red nucleus and extends the model to include the thalamus.     

Characterization of virus-specific messenger RNAs from avian fibroblasts infected with fowl plague virus

In cell-free protein synthesizing systems from wheat embryos, messenger RNAs extracted from chick embryo fibroblasts infected with fowl plague virus direct the synthesis of nine virus-specific polypeptides, two of which may be related to the virus-specific glycopolypeptides. All of the mRNAs are complementary in sequence to virion RNA, and RNAs which do not contain poly A appear to be translated as efficiently as their polyadenylated counterparts. Under certain conditions of incubation, virion RNA also directs the synthesis of discrete polypeptides but these products are not detected in infected cells.     

Are clinicians failing to supply adequate information when requesting a histopathological investigation?

AIMS: There is a perception among histopathologists that specimens are often received without adequate clinical details. This is the first study to determine the adequacy of information provided when histopathological investigations are requested. METHODS: Two thousand sequential requests for histological examination were assessed for adequacy and completeness. RESULTS: There was no significant difference in the demographic details supplied by physicians and surgeons. Clinical details were inadequate in 6.1% of cases: those from physicians were significantly more often adequate (98.7% v 90.6%) and more often included a diagnosis (74.4% v 38.8%) than those from surgeons. Physicians were more likely to supply their name and contact number but requests frequently lacked details of the sender. CONCLUSIONS: Specimens are infrequently received with inadequate demographic details, but clinical details and details of the sender are more often lacking. Education of clinical colleagues is required if pathologists are to manage the demand for the service.     

Isolation of v-fms and its human cellular homolog

The integrated form of McDonough FeSV proviral DNA, including cellular flanking sequences, was molecularly cloned from nonproductively transformed Fisher rat cells. Acquired cellular-derived (v-fms) sequences within the cloned proviral DNA were mapped from between 2.6 and 5.5 kb from the 5'LTR. Upon transfection, the cloned proviral DNA was biologically active; it caused induction of the transformed phenotype and the resulting transformed cells expressed the major McDonough FeSV translational product, P170gag-fms at high level. Using a series of molecular probes representing subgenomic regions of the viral v-fms gene, a cosmid library of human lung carcinoma DNA was screened for v-fms homologous sequences. Three cosmid clones containing overlapping v-fms homologous cellular DNA inserts, representing a contiguous region of cellular DNA sequence of approximately 64 kb in length, were isolated. Within this region of human genomic DNA, v-fms homologous sequences are dispersed over a total region of around 32 kb. These represent the entire human cellular homolog of v-fms, are colinear with the viral v-fms transforming gene, and contain a minimum of four intervening sequences. At least 12 regions of highly repetitive DNA sequences have been mapped in close proximity to c-fms coding sequences.     

Protective cytotoxic T lymphocyte responses against paramyxoviruses induced by epitope-based DNA vaccines: involvement of IFN-gamma

Plasmid DNA vectors have been constructed with minigenes encoding a single cytotoxic T lymphocyte (CTL) epitope from either the M2 protein of respiratory syncytial virus (RSV) or from the nucleoprotein of measles virus (MV) with or without a signal sequence (also called secretory or leader sequence). Following intradermal immunization, plasmids in which the CTL epitopes were expressed in-frame with the signal sequence were more effective at inducing peptide- and virus- specific CTL responses than plasmids expressing CTL epitopes without the signal sequence. This immunization resulted in protection against MV-induced encephalitis and a significant reduction in viral load following RSV challenge. The reduction of viral load following RSV challenge was abrogated by prior injection with anti-IFN-gamma antibodies. These results highlight the ability of epitope-based DNA immunization to induce protective immune responses to well-defined epitopes and indicate the potential of this approach for the development of vaccines against infectious diseases.      

Effect of implant duration on in vivo sensitivity of electromagnetic flow transducers.

Twenty-three electromagnetic flow transducers with lumen diameters of 3.5-6.0 mm were implanted in rhesus monkeys and baboonss for 12 h to 120 days. Each flow transducer was calibrated 1) in vitro on dialysis tubing with saline before implantation, 2) in vivo the last day of the implant period, and 3) again in vitro after the flow transducer was recovered. Three other flow transducers were implanted on femoral arteries of baboon just central to an arteriovenous Silastic shunt, and were calibrated in vivo daily for 23-47 days. In vitro sensitivity was not affected by implant durations of up to 120 days. In vivo sensitivity fluctuated unpredictably for the first 3-4 wk of implant, after which it followed a systematic course that depended on the lumen size. In vivo sensitivity at any time during implant (after the initial period) could be accurately predicted by knowing either the in vitro sensitivity or the terminal in vivo sensitivity.     

Serogenetic investigations of Tibetans and Himachalis from Himachal Pradesh,India: Genetic relationship between Tibetans and certain selected mongoloid populations

Twenty two serogenetic systems were investigated in 115 Tibetans and 128 Himachalis from the state of Himachal Pradesh, north-west India. For eight of the loci (ABO, Rh, MNSs, P, Fy, 6PGD, EsD, and AK) the two populations showed conclusive heterogeneity and their frequency distribution showed that the serogenetic differences between two populations are due to their different racial affliations. The Tibetans were also analysed for their genetic relationship with certain selected populations from the Cis-Himalayan, far east and south Asian regions. The calculations of the Harpending's kinship matrix R and the genetic distances showed that the Tibetans are closer to the mongoloid populations of the Cis-Himalayan region and the differences in the present day population structure of the mongoloid groups of this region are more likely to be due to differential migration, admixture and racial affliation although there is a slight possibility of disruptive selection for certain loci such as 6PGD and AK which showed an exceptionally high value of Canning (6PGD ^*C) andAK ^*1 genes.