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Biomedical subjects

J Sands

Publications and source records attributed to J Sands.

At least 19 recordsLinked to original sources
PubMed2001

The human obesity gene map: the 2000 update.

This report constitutes the seventh update of the human obesity gene map incorporating published results up to the end of October 2000. Evidence from the rodent and human obesity cases caused by single-gene mutations, Mendelian disorders exhibiting obesity as a clinical feature, quantitative trait loci uncovered in human genome-wide scans and in cross-breeding experiments in various animal models, and association and linkage studies with candidate genes and other markers are reviewed. Forty-seven human cases of obesity caused by single-gene mutations in six different genes have been reported in the literature to date. Twenty-four Mendelian disorders exhibiting obesity as one of their clinical manifestations have now been mapped. The number of different quantitative trait loci reported from animal models currently reaches 115. Attempts to relate DNA sequence variation in specific genes to obesity phenotypes continue to grow, with 130 studies reporting positive associations with 48 candidate genes. Finally, 59 loci have been linked to obesity indicators in genomic scans and other linkage study designs. The obesity gene map reveals that putative loci affecting obesity-related phenotypes can be found on all chromosomes except chromosome Y. A total of 54 new loci have been added to the map in the past 12 months and the number of genes, markers, and chromosomal regions that have been associated or linked with human obesity phenotypes is now above 250. Likewise, the number of negative studies, which are only partially reviewed here, is also on the rise.

Animals↗
PubMed2000

A prospective longitudinal 10-year study of schizophrenia's three major factors and depression.

This study investigated the nature, independence, and stability of schizophrenia's syndrome factors and depression at 2, 4.5, 7.5 and 10 years post-index hospitalization. At the four follow-ups, 71 patients (48 with schizophrenia and 23 with schizoaffective disorder) were assessed for symptoms hypothesized to constitute the reality distortion, disorganized, and negative factors of schizophrenia. At the last three follow-ups, the patients were also assessed for symptoms of depression. Factor analyses of schizophrenia symptoms revealed more than three syndrome factors at each follow-up. Longitudinally, reality distortion was a stable and relatively independent factor. The negative syndrome was independent but was bifurcated into two dimensions, interpreted as social/emotional withdrawal and diminished movement/expressiveness. Although signs of disorganization were not unified or independent early in schizophrenia's course, speech/thought disorder, disorganized affect, and poverty of speech content coalesced to form a disorganization factor by the 7.5-year follow-up. When depressive symptoms were added to the analyses, depression constituted an independent and stable dimension of schizophrenia over time. Each schizophrenia factor demonstrated a unique longitudinal course. Courses included stable symptom consistency (reality distortion), evolving symptom convergence (disorganization), and recurrent bifurcation and symptom instability (the negative syndrome).

Adult↗
PubMed1997

Establishment of serial persistent infections with bovine viral diarrhoea virus in cattle and sheep and changes in epitope expression related to host species.

A pestivirus was transmitted by contact from a persistently infected (P.I.) bullock to pregnant sheep. This resulted in the birth of P.I. lambs, one of which in turn was able to transmit virus by contact to pregnant cattle. Two of these animals gave birth to P.I. calves, from one of which the virus was again transmitted by contact with pregnant sheep, leading to another generation of P.I. lambs. The expression of one or more epitopes on the E2 glycoprotein of the viruses isolated from this series of alternate cattle-sheep transmissions appeared to depend on the host species. Thus, several monoclonal antibodies which bound strongly to, and neutralised, viruses isolated from the bovine hosts, failed to bind or neutralise in the case of sheep isolates. The viral consensus sequences of the E2 gene as well as parts of the 5' untranslated region and of the Npro and capsid genes were compared between the different isolates. This revealed a high degree of genetic stability. However, a single codon change at amino acid position 9 of the E2 gene correlated with and was able to cause the loss of particular epitopes.

Animals↗
PubMed1997

Detection of transmissible gastroenteritis virus by RT-PCR and differentiation from porcine respiratory coronavirus.

An RT-PCR method was developed that amplified genetic material from the 5' end of the S protein gene of both transmissible gastroenteritis virus (TGEV) and porcine respiratory coronavirus (PRCV), but discriminated between the two by the size of the product generated. A number of restriction endonuclease enzymes were assessed for recognition of the amplicons so produced. The assay was shown to detect viral RNA from all of the 26 different TGEV and PRCV isolates examined, covering a period from 1946 to 1996. Detection of TGEV in clinical specimens was possible using a spin column method to extract RNA and sensitivity was compared to virus isolation and antigen detection ELISA. The method could provide a means of confirming positive results from immunological screening tests such as FAT and ELISA, reducing the need for virus isolation and convalescent serology.

Animals↗
PubMed1997

An ovine model of acute myocardial infarction and chronic left ventricular dysfunction.

In order to develop and validate an ovine model of myocardial infarction with subsequent impairement of left ventricular function, 15 instrumented sheep underwent selective microembolization of the left coronary arteries with 0.5 mL 90 microns polystyrene beads. Hemodynamics and plasma hormones were measured preembolization (baseline) and then at hours 2, 4, 6, and 12 and days 1, 2, 3, 5 and 7 postembolization. Of the 15 sheep studied, 2 (13%) died on the day of embolization from arrhythmias. In the remaining sheep, left ventricular systolic pressure and stroke work (both P < 0.001) were reduced promptly and remained below basal levels. Mean arterial pressure (P < 0.001) increased initially, then decreased to below basal levels by hour 6. Heart rate (P < 0.001) and left atrial pressure (P < 0.05) were increased while cardiac output was decreased (P < 0.05). Left ventricular ejection fraction at day 7 was reduced (38.8 +/- 3.5 vs 46.0 +/- 3.9% preembolization; P < 0.05). The cardiac enzymes creatine kinase (P < 0.001) and troponin-T (P < 0.001) were increased following microembolization and returned to basal levels by days 2 and 5 respectively. Plasma atrial and brain natriuretic peptides (both P < 0.001) and plasma renin activity (P < 0.005) were all increased following embolization. This ovine model mimics the hemodynamic and neurohumoral features of acute myocardial infarction, resulting in left ventricular dysfunction, and should prove suitable for the study of interventions in a number of these conditions.

Animals↗
PubMed1997

Increasing numbers of AV fistulas for hemodialysis access.

As part of our CQI program, we initiated an effort to see if we could successfully increase the total number of native arterio-venous (AV) fistulas relative to synthetic PTFE grafts in our dialysis population. This was a combined effort of the nephrology and surgery departments. The program emphasized placement of brachial fistulas in elderly patients and diabetics. Permcaths were placed in the internal jugular position to allow adequate time for maturation of fistulas. The percentage of AV fistulas in our total dialysis population increased from 28% (93 of 328) in the base period 1990 through 1992 to 44% (170 of 386) in the period from 1993 through 1995 (p < 0.0001). Initial AV fistula insertions increased from 38% (52 of 137) in 1990-1992 to 71.8% (102 of 142) in the years 1993 through 1995 (p < 0.0001). 86.5% (45 of 52) of initial fistulas placed in 1990-1992 were useable compared to 63.7% (65 of 102) in 1993-1995 (p < 0.01). Patient demographics were unchanged throughout the study. In conclusion, the number and percentage of AV fistulas in our dialysis population was significantly increased through a coordinated CQI initiative. We expect that this will have a positive impact on decreasing future thrombosis rates and decreasing the cost of access management.

Aged↗
PubMed1991

European versus U.S. data on the course of schizophrenia.

OBJECTIVE: The present research attempts to add to the existing body of data on the course of schizophrenia by comparing the findings of a prospective study of a group of U.S. schizophrenic patients with data from two European studies. METHOD: Seventy-four U.S. patients given the diagnosis of schizophrenia according to Research Diagnostic Criteria were longitudinally assessed at hospitalization and at three intervals up to 10 years after illness onset. The longitudinal criteria for type of onset, course of illness, and outcome were derived from the European studies of Manfred Bleuler and Luc Ciompi. The type of onset, course of illness, and outcome of the U.S. patients were compared with those of the patients in the two European studies. RESULTS: A lower rate of acute onset and of episodic illness was found in the U.S. patients, but the relative frequency of a number of major overall course patterns was similar across studies. CONCLUSIONS: Despite many potential threats to comparability, the results of the European and U.S. longitudinal studies of the course of schizophrenia were fairly congruent in terms of the relative rate with which patients fell into the categories established by Bleuler and Ciompi. These results are encouraging in that they point to the possibility of estimating the rate of occurrence of particular expressions of the overall course of schizophrenia.

Cross-Cultural Comparison↗
PubMed1990

A gene pair from the human major histocompatibility complex encodes large proline-rich proteins with multiple repeated motifs and a single ubiquitin-like domain.

A large number of genes has been identified previously between the class I and class II gene families within the class III region of the human major histocompatibility complex. The complete sequences of two of these genes, BAT2 and BAT3 (where BAT is HLA-B-associated transcript), which are closely linked, were determined from cDNA clones. The putative BAT2 and BAT3 proteins are 228 and 110 kDa, respectively, and do not appear to be members of any known family of proteins. However, BAT3 contains an amino-terminal ubiquitin-like domain. Both BAT2 and BAT3 are very rich in proline and include short tracts of polyproline, polyglycine, and charged amino acids. In addition, these proteins contain several unrelated families of similar repeated segments. BAT2 and BAT3 are similar to other proteins with large proline-rich domains, such as some nuclear proteins, collagens, elastin, and synapsin. BAT2 also contains four Arg-Gly-Asp (RGD) motifs typical of the integrin receptor family.

Amino Acid Sequence↗
PubMed1989

A new cluster of genes within the human major histocompatibility complex.

A 435-kilobase (kb) DNA segment, which is centromeric to HLA-B in the human major histocompatibility complex, was isolated by chromosome walking with overlapping cosmids. Within the cloned region, the genes for the tumor necrosis factors (TNFs) alpha and beta and HLA-B were 210 kb apart. The human homolog of a mouse gene, B144, was located next to TNF alpha. Moreover, the presence of additional genes was suggested by a large cluster of CpG islands. With cosmid probes, several distinct transcripts were detected in RNA samples from a variety of cell lines. Altogether, five novel genes were identified by isolation of corresponding complementary DNA clones. These "HLA-B-associated transcripts" (BATs) were mapped to different locations within a 160-kb region that includes the genes for TNF alpha and TNF beta. The presence of the genes for BAT1 and BAT5 in the vicinity of HLA-B again raises the question of which gene in this region determines susceptibility to ankylosing spondylitis.

Animals↗
PubMed1989

Modulation of HLA class II antigen expression by transfection of sense and antisense DR alpha cDNA.

In the human there are three isotypic forms of MHC class II gene products (HLA-DR, -DQ, and -DP). The isotype-matched alpha-beta dimers are predominant but isotype-mismatched dimers can also be expressed (DR alpha-DQ beta). Here it is shown that the expression of the DR alpha-DQ beta dimer can be correlated to a high ratio of DR alpha/DR beta mRNA. The DR alpha chain expression was modulated by transfection of a sense and antisense DR alpha cDNA. Overexpression of DR alpha promoted the appearance of the DR alpha-DQ beta dimer. On the other hand, pre-existing DR alpha-DQ beta dimer expression was suppressed after antisense DR alpha cDNA transfection. Therefore, imbalanced expression of the alpha and beta chain from a given isotype could lead to the modification of HLA class II phenotype.

B-Lymphocytes↗
PubMed1988

T-cell lymphomas containing Epstein-Barr viral DNA in patients with chronic Epstein-Barr virus infections.

Fatal T-cell lymphomas developed in three patients with a chronic illness manifested by fever, pneumonia, dysgammaglobulinemia, hematologic abnormalities, and extraordinarily high titers of antibody to the Epstein-Barr virus (EBV) capsid antigen (greater than 10,000) and early antigen (greater than 640) but low titers to the EBV nuclear antigen (less than or equal to 40). To understand the pathogenesis of these tumors better, we determined the immunophenotype of the tumor cells and analyzed tumor-cell DNA for EBV genomes and for lymphoid-cell gene rearrangements. More than 80 percent of the cells in tumors had an activated helper T-cell phenotype (T4, T11, la positive). The EBV genome was found by in situ hybridization in tumor tissue from each patient. Southern blot assay of DNA digests from one patient showed the same pattern as that of the EBV-infected marmoset line, B95-8. DNA digests from two patients showed a monoclonal proliferation of T cells determined on the basis of uniform T-cell-receptor gene rearrangements and a single band for the joined termini of the EBV genome. We conclude that EBV may infect T cells and contribute to lymphomas in selected patients with severe EBV infections.

Adult↗
PubMed1985

Cell size and cell number in tissue growth and development. An old hypothesis reconsidered.

The development of tissues and organs in the post-embryogenic period has commonly been thought to be by two main consecutive processes: the multiplication of cells followed by a growth in their size. The capacity for recovery following growth restriction has been considered to depend on whether restriction occurred during the phase of cell multiplication, in which case catch-up was permanently inhibited; or later, in which case recovery could occur. This model is now no longer valid for a number of reasons, the main one being that the original assumptions about the sequence of developmental processes have been shown to be false. There certainly seems to be an early period of vulnerability during which restriction is not followed by catch-up, but this cannot now be related to the multiplication of cells.

Animals↗
PubMed1982

Self-splicing RNA: autoexcision and autocyclization of the ribosomal RNA intervening sequence of Tetrahymena.

In the macronuclear rRNA genes of Tetrahymena thermophila, a 413 bp intervening sequence (IVS) interrupts the 26S rRNA-coding region. A restriction fragment of the rDNA containing the IVS and portions of the adjacent rRNA sequences (exons) was inserted downstream from the lac UV5 promoter in a recombinant plasmid. Transcription of this template by purified Escherichia coli RNA polymerase in vitro produced a shortened version of the pre-rRNA, which was then deproteinized. When incubated with monovalent and divalent cations and a guanosine factor, this RNA underwent splicing. The reactions that were characterized included the precise excision of the IVS, attachment of guanosine to the 5' end of the IVS, covalent cyclization of the IVS and ligation of the exons. We conclude that splicing activity is intrinsic to the structure of the RNA, and that enzymes, small nuclear RNAs and folding of the pre-rRNA into an RNP are unnecessary for these reactions. We propose that the IVS portion of the RNA has several enzyme-like properties that enable it to break and reform phosphodiester bonds. The finding of autocatalytic rearrangements of RNA molecules has implications for the mechanism and the evolution of other reactions that involve RNA.

Animals↗
PubMed1982

Protection against bovine leukosis virus infection in sheep with the BL 20 bovine lymphoblastoid cell line.

The bovine lymphoblastoid BL 20 cell line derived from a case of sporadic bovine leukosis when inoculated into sheep did not induce an antibody response directed against bovine leukosis virus (BLV) structural proteins. Sheep were inoculated twice with the BL 20 cell line and then challenged with BLV infected lymphocytes. Three out of four sheep challenged four weeks after BL 20 inoculation did not develop BLV antibodies. Of the 12 sheep challenged later, three sheep did not develop BLV antibodies. BLV was isolated from all the seropositive animals and from none of the seronegative animals.

Animals↗