Delineation of supernumerary marker chromosomes in 38 patients

A range of catechins and oligomeric procyanidins was purified by high performance liquid chromatography (HPLC) from grape seed, apple skin, lentil and almond flesh. Catechins, galloylated epicatechin, glycosylated catechin, procyanidin dimers, galloylated dimers, trimer, and tetramer species were all identified, purified and quantified by HPLC, LC-MS and NMR. The antioxidant properties of these compounds were assessed using two methods: (a) inhibition of ascorbate/iron-induced peroxidation of phosphatidylcholine liposomes; (b) scavenging of the radical cation of 2,2'-azinobis(3-ethyl-benzothiazoline-6-sulphonate) (ABTS) relative to the water-soluble vitamin E analogue Trolox C (expressed as Trolox C equivalent antioxidant capacity, TEAC). Antioxidant activity in the lipid phase decreased with polymerisation in contrast with antioxidant action in the aqueous phase which increased from monomer to trimer and then decreased from trimer to tetramer. Galloylation of catechin and dimeric procyanidins decreased lipid phase and increased aqueous phase antioxidant activity. Glycosylation of catechin demonstrated decreased activity in both phases.     

Maternal uniparental disomy for chromosome 14

A girl carrying a de novo balanced 13-14 robertsonian translocation showed a clinical phenotype with severe hypotonia, hyperextensible joints, frontal bossing, asymmetric face, no mental retardation, severe scoliosis and motor delay. In situ hybridization analysis on chromosome spreads revealed the presence of the two centromeres in the rearranged chromosomes. Molecular analysis on genomic DNA showed the presence in the proposita of two chromosomes 14 of maternal origin and no chromosome 14 from the father indicating a maternal monocentric uniparental disomy for chromosome 14 (mUPD14). Our patient shows several similarities with other reported cases of mUPD14, suggesting imprinting of a region(s) of chromosome 14 and defining a possible mUPD14 Syndrome.     

Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus

Transient neonatal diabetes mellitus occurs in growth-retarded infants, has an incidence of 1 in 400000 live births and has been associated with both paternal uniparental disomy of chromosome 6 and paternal duplications of 6q. We analysed samples from our cohort of patients with transient neonatal diabetes mellitus for uniparental disomy of chromosome 6 using polymorphic microsatellite repeat analysis. We report here the fifth case of paternal uniparental disomy of chromosome 6 associated with classic transient neonatal diabetes mellitus and estimate that uniparental disomy of chromosome 6 accounts for approximately one fifth of cases of transient neonatal diabetes mellitus.     

Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis

OBJECTIVES: We sought to determine the prognostic capabilities of exercise thallium (Tl)-201 tomographic imaging performed relatively early (within 2 years) after coronary artery bypass graft surgery (CABG). BACKGROUND: Exercise testing is commonly performed after CABG, but few data exist demonstrating its prognostic value in this setting. METHODS: Four hundred eleven patients were followed up for a median duration of 5.8 years. Eleven prospectively chosen clinical, exercise and Tl-201 variables were tested for their associations with outcome end points by means of proportional hazards regression models. RESULTS: During follow-up there were 60 deaths from any cause, 53 initial cardiac deaths or nonfatal myocardial infarctions (MIs) and 22 late (>3 months after the Tl-201 study) revascularization procedures. The number of abnormal Tl-201 segments on the postexercise image was the only variable in the multivariate analyses to show a significant association with all three outcome end points: chi-square 7.3, p = 0.007 for overall mortality; chi-square 8.1, p = 0.004 for cardiac death or MI; chi-square 7.8, p = 0.005 for any cardiac event. Other independent predictors of outcome were exercise duration (chi-square 10.7, p = 0.001) and age (chi-square 3.9, p = 0.049) for overall mortality and exercise angina score (chi-square 8.7, p = 0.003) for cardiac death or MI. The 5-year survival rate free of cardiac death or MI was 93% for patients without angina and a normal image or small postexercise perfusion defect versus 71% for patients with angina and a medium or large defect. CONCLUSIONS: Exercise Tl-201 imaging performed within 2 years of CABG can stratify patients into low and high risk subgroups.     

Identification of a supernumerary der(18) chromosome by a rational strategy for the cytogenetic typing of small marker chromosomes with chromosome-specific DNA probes

Seventy-two patients underwent splenectomy for idiopathic thrombocytopenic purpura between 1979 and 1990. Mean age at splenectomy was 36.4 years (range 11-73). Indications for splenectomy were corticodependence in 21 cases and resistance to steroids in 44 cases. Thirty-five patients had platelet kinetic studies by 51Cr alloplatelets; 22 of them had splenic sequestration. Hematologic results were evaluated on discharge, at 3 months and in the long term (median follow-up 5.4 years). We had no mortality, morbidity was seen in 7% of the cases. None of the patients suffered from secondary infectious complications. 89% had good results on discharge (> 120 x 10(9)/l), 72.6% at 3 months and 90% on long-term follow-up. Factors associated with good response to splenectomy included a high postoperative platelet count (more than 120 x 10(9)/l on discharge), younger age at the time of surgery, preoperative corticodependence and predominantly splenic sequestration.     

A pseudoautosomal random amplified polymorphic DNA marker for the sex chromosomes of Silene dioica

The segregation pattern of an 810-bp random amplified polymorphic DNA (RAPD) band in the F1 and backcross generations of a Silene dioica (L.) Clairv. family provides evidence that this molecular marker is located in the pseudoautosomal region (PAR) of the X and Y chromosomes. The marker was found through a combination of bulked segregant analysis (BSA) and RAPD techniques. Recombination rates between this pseudoautosomal marker and the differentiating portion of the Y chromosome are 15% in both generations. Alternative explanations involving nondisjunction or autosomal inheritance are presented and discussed. Chromosome counts provide evidence against the nondisjunction hypothesis, and probability calculations argue against the possibility of autosomal inheritance. This constitutes the first report of a pseudoautosomal DNA marker for plant sex chromosomes.     

Iron absorption in the rat: the search for possible intestinal mucosal carriers

The biological relevance of four iron-containing fractions previously detected in rat intestinal mucosal cells has been studied. The distribution of iron in these fractions obtained by chromatography on Sepharose 6B has been examined after in vivo and in vitro incubation of mucosal cells with 59Ce. In addition, the effects of phenobarbitone, cycloheximide, iron-deficiency and iron-loading on the uptake and distrubution of iron within the four mucosal cell fractions was studied. The iron in fraction I was mostly bound to intracellular membrane particles. Fraction II was shown to be ferritin. Fraction III contained some transferrin and also a protein of molecular weight similar to transferrin but which was not precipitable by antitransferrin antiserum. Quantited with the results of 'chaser' experiments suggested that, in addition to ferritin, at least two of the fractions (I and III) were involved in the process of iron absorption by the mucosal cell.     

Assessing prognosis for high-grade soft-tissue sarcomas: search for a marker

BACKGROUND: Although improved staging technology, limb-sparing surgery, and adjunctive radiation and chemotherapy have improved the outlook for patients with malignant soft-tissue tumors of the trunk and extremities, it is evident that we cannot predict which patients will develop distant metastases. Although local control is now frequently achieved, most series of high-grade soft-tissue sarcomas carry a mortality rate of > 50%. METHODS: In a retrospective study of 93 patients with high-grade sarcomas treated between 1986 and 1992 for whom complete studies including size and volume measurements and DNA ploidy determinations as assessed by flow cytometry were available, a search for a marker for increased risk of metastasis or death was performed. RESULTS: Grade of the lesion, sex, diagnosis, anatomical site, ploidic data (including mean DNA index and presence of an aneuploid peak), and treatment factors (including type of surgery, local recurrence, or radiation protocol) did not correlate with outcome. Age (younger patients did better), size (greatest diameter) and volume, and positive margins at surgery correlated with total survival. CONCLUSIONS: The results of the study, although negative, point out that using anatomical site, diagnosis, or ploidic analysis offers little toward anticipating outcome, whereas the size of the tumor is important.     

A genome-wide search identifies two susceptibility loci for experimental autoimmune encephalomyelitis on rat chromosomes 4 and 10

Experimental autoimmune encephalomyelitis (EAE) is an autoimmune disease of the central nervous system that exhibits many pathologic similarities with multiple sclerosis. The genetic loci that contribute to mononuclear cell infiltration of the central nervous system and clinical manifestations of EAE in the rat were investigated in the F2 progeny of the highly susceptible Lewis and resistant Brown Norway strains. The data confirmed that the Lewis allele of a MHC-linked gene is necessary, but not sufficient, to confer EAE susceptibility in the F2 progeny. Subsequent analyses were thus restricted to the subset of the F2 animals with EAE-predisposing MHC genotypes. A genome-wide scan approach was performed using 103 microsatellite markers covering 85% of the genome. Two non-MHC regions were identified, one near the centromere of chromosome 4 and the other on the long arm of chromosome 10, that significantly contributed to the disease. In addition, three regions on chromosomes 9, 13, and 17 were suggestive for linkage. Congenic mapping is now needed to reduce the support intervals encoding the loci of interest to sizes amenable to physical mapping and to eventually demonstrate the involvement of some of the candidate genes of immunologic importance localized in these regions.     

Serum CA 242: the search for a valid marker of pancreatic cancer

As experience with peritoneal dialysis (PD) has improved and peritonitis rates have decreased, more patients are surviving for long periods on PD. Associated with this has been the recognition that there are unique complications of PD, specifically sclerosing syndromes and membrane failure that are most common in the long-term patient. Although anecdotal data would suggest that the long-term exposure to "bio-incompatable" fluids and or the occurrence of severe episodes of peritonitis are contributory in the pathogenesis of these diseases, cause and effect have not been proven. Normal peritoneal structure, changes that occur over time, and how the normal resident immune defense systems are altered with PD are reviewed. It is known that the continued loss of macrophages in the PD fluid results in an ever increasing percentage of immature cells in the peritoneum, which paradoxically are more reactive in terms of cytokine generation and less effective in host defense. The potential harmful effects of glucose and advanced glycosylation end products are also explored. The review concludes stating that further research is needed to better link the clinical syndromes with alterations in membrane structure/function.     

In search of a reliable marker of tissue injury during heart surgery

We report on a new patient with d-transposition of the great arteries who was found to have deletion of 22q11.2. He had minor facial anomalies, normal T- and B-cell subsets, and transient hypocalcemia. Similar to rare previous reports, our patient's extracardiac manifestations were relatively mild.     

A search for social intelligence.

Notes that efforts to highlight educationally neglected areas of abilities have often focused on the putative domain of social intelligence. In the present study, the empirical coherency of this domain was investigated in a group of 117 college students, since N. W. Dye and P. S. Very's (1968) and others' findings would predict maximum differentiation of abilities in this age group. Three measures of academic intelligence—the Concept Mastery Test, Raven Standard Progressive Matrices, and Remote Associates Test—and 3 measures of social intelligence—the Defining Issues Test, Chapin Social Insight Test, and Social Maturity Index—were used. Major findings on the social domain show that (a) intradomain correlations were no higher than interdomain rs, (b) factor analyses produced no identifiable social factor, and (c) academic measures were better at predicting a social competence criterion than social measures. Implications for research and practice are discussed. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

A search for species-specific antigens in the genus Penicillium

The immunological relationship between five different species of Penicillium was examined. Organisms included in the study were P. citrinum, P. chrysogenum, P. italicum, P. notatum and P. roqueforti. These species were selected because of their frequency in nature and their ability to grow on a wide variety of substrates. Antigen extracts were prepared by culturing each organism in synthetic media. Rabbit antisera tested against the various antigen extracts by immunodiffusion indicated a cross-reactivity between P. notatum and P. chrysogenum. No cross-reactivity between other species of Penicillium was detected.     

Identification of marker chromosomes and translocations in man using a computerized diagnostic database and fluorescent in situ hybridization

BACKGROUND: Many species of bats have two sets of submandibular glands, principal and accessory. The accessory gland may resemble the principal one but more often shows wide morphological divergence. The free-tailed bat, Tadarida thersites, is very unusual in that it has two sets of parotid glands rather than binary submandibular glands. We studied the ultrastructure of the principal parotid gland to establish a baseline for comparison with the accessory parotid. METHODS: Two specimens of adult free-tailed bats, one male and one female, were live-trapped in western Kenya. Parotid glands were fixed for electron microscopy using a protocol expressly designed for field fixation and then embedded by conventional means. RESULTS: Histologically, the principal parotid is a typical serous gland. The secretory granules of the endpiece cells have an unusual substructure in that they contain variable numbers of lucent halos and one or several spherules. Intercalated duct cells contain a significant number of dense, serous-like granules. Striated ducts have the usual basal configuration of mitochondria and folded plasma membranes, but the supranuclear cytoplasm contains many small, dense granules, so that these ducts resemble the granular convoluted tubules found in the submandibular glands of many families of rodents. The apices of the duct cells have a peculiar contour--the luminal surfaces obliquely invaginate into the apical cytoplasm, so that in thin section the luminal membranes appear to be underlaid by a layer of vacuoles. CONCLUSION: Although the principal parotid gland of the free-tailed bat shows some distinctive, species-specific ultrastructural features, it basically is similar to the parotid gland in two other molossid bats, Tadarida brasiliensis and Molossus molossus. The distinctive features in the principal parotid gland of T. thersites might relate to its feeding on hard-bodied insects and perhaps to the production of lysozyme.     

A further search for social intelligence.

Previous research has failed to identify an empirically coherent domain of social intelligence despite widespread intuitions among both laypersons and experts that social and academic abilities are at least partly distinct phenomena. The present study resolved this discrepancy between formal and informal observations by employing a behavioral effectiveness criterion to conceptually and operationally define social intelligence. D. P. Keating's (see record 1979-09784-001) methodological model was employed to examine 4 measures of academic intelligence and 6 measures of social intelligence using 3 correlational procedures. 690 9th and 12th graders participated. Univariate correlations demonstrated both convergent and discriminant validity; factor analyses revealed a distinct Social Intelligence factor; and a stepwise multiple regression confirmed the greater power of the social measures to predict a behavioral measure of social effectiveness. Implications for research on social cognition and social competence and for the design of educational programs intended to promote social abilities are discussed. (40 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

A genome-wide search for schizophrenia susceptibility genes

We completed a systematic genome-wide search for evidence of loci linked to schizophrenia using a collection of 70 pedigrees containing multiple affected individuals according to three phenotype classifications: schizophrenia only (48 pedigrees; 70 sib-pairs); schizophrenia plus schizoaffective disorder (70 pedigrees; 101 sib-pairs); and a broad category consisting of schizophrenia, schizoaffective disorder, paranoid or schizotypal personality disorder, psychosis not otherwise specified (NOS), delusional disorder, and brief reactive psychosis (70 pedigrees; 111 sib-pairs). All 70 families contained at least one individual affected with chronic schizophrenia according to DSM-III-R criteria. Three hundred and thirty-eight markers spanning the genome were typed in all pedigrees for an average resolution of 10.5 cM (range, 0-31 cM) and an average heterozygosity of 74.3% per marker. The data were analyzed using multipoint nonparametric allele-sharing and traditional two-point lod score analyses using dominant and recessive, affecteds-only models. Twelve chromosomes (1, 2, 4, 5, 8, 10, 11, 12, 13, 14, 16, and 22) had at least one region with a nominal P value <0.05, and two of these chromosomes had a nominal P value <0.01 (chromosomes 13 and 16), using allele-sharing tests in GENEHUNTER. Five chromosomes (1, 2, 4, 11, and 13) had at least one marker with a lod score >2.0, allowing for heterogeneity. These regions will be saturated with additional markers and investigated in a new, larger set of families to test for replication.     

A search for extraterrestrial amino acids in carbonaceous Antarctic micrometeorites

Antarctic micrometeorites (AMMs) in the 100-400 microns size range are the dominant mass fraction of extraterrestrial material accreted by the Earth today. A high performance liquid chromatography (HPLC) based technique exploited at the limits of sensitivity has been used to search for the extraterrestrial amino acids alpha-aminoisobutyric acid (AIB) and isovaline in AMMs. Five samples, each containing about 30 to 35 grains, were analyzed. All the samples possess a terrestrial amino acid component, indicated by the excess of the L-enantiomers of common protein amino acids. In only one sample (A91) was AIB found to be present at a level significantly above the background blanks. The concentration of AIB (approximately 280 ppm), and the AIB/isovaline ratio (> or = 10), in this sample are both much higher than in CM chondrites. The apparently large variation in the AIB concentrations of the samples suggests that AIB may be concentrated in rare subset of micrometeorites. Because the AIB/isovaline ratio in sample A91 is much larger than in CM chondrites, the synthesis of amino acids in the micrometeorite parent bodies might have involved a different process requiring an HCN-rich environment, such as that found in comets. If the present day characteristics of the meteorite and micrometeorite fluxes can be extrapolated back in time, then the flux of large carbonaceous micrometeorites could have contributed to the inventory of prebiotic molecules on the early Earth.