ACSS2 gene variant associated with cleft lip and palate in two independent Hispanic populations.

Objectives/hypothesis: A candidate variant (p.Val496Ala) of the ACSS2 gene (T > C missense, rs59088485 variant at chr20: bp37 33509608) was previously found to consistently segregate with nonsyndromic cleft lip and/or palate (NSCLP) in three Honduran families. Objectives of this study were 1) to investigate the frequency of this ACSS2 variant in Honduran unrelated NSCLP patients and unrelated unaffected controls and 2) to investigate the frequency of this variant in Colombian unrelated affected NSCLP patients and unrelated unaffected controls.

The newly developed CRF1-receptor antagonists, NGD 98-2 and NGD 9002, suppress acute stress-induced stimulation of colonic motor function and visceral hypersensitivity in rats.

Corticotropin releasing factor receptor 1 (CRF1) is the key receptor that mediates stress-related body responses. However to date there are no CRF1 antagonists that have shown clinical efficacy in stress-related diseases. We investigated the inhibitory effects of a new generation, topology 2 selective CRF1 antagonists, NGD 98-2 and NGD 9002 on exogenous and endogenous CRF-induced stimulation of colonic function and visceral hypersensitivity to colorectal distension (CRD) in conscious rats.

Percutaneous intradiscal aspiration of a lumbar vacuum disc herniation: a case report.

We report a case of an 83-year-old gentleman presenting with acute low back pain and radicular left lower extremity pain after golfing. A magnetic resonance imaging (MRI) of the lumbar spine revealed a low-signal-density lesion compressing the L5 nerve. A computed tomography scan was then ordered, confirming an extra-foraminal disc protrusion at the L5-S1 level, containing a focus of gas that was compressing the left L5 nerve root and communicating with the vacuum disc at L5-S1.

The dopamine D(2) receptor partial agonist aplindore improves motor deficits in MPTP-treated common marmosets alone and combined with L-dopa.

Dopamine replacement therapy in Parkinson's disease (PD) using L-dopa is invariably associated with a loss of drug efficacy ("wearing off") and the onset of dyskinesia. The use of dopamine receptor partial agonists might improve therapeutic benefit without increased dyskinesia expression but may antagonise the effects of L-dopa. We now examine the effects of the novel high affinity, dopamine D(2) receptor partial agonist, aplindore alone and in combination with L-dopa in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-treated common marmoset.

Concordance of retinal nerve fiber layer defects between fellow eyes of glaucoma patients measured by optical coherence tomography.

Purpose: To determine the pattern of agreement of retinal nerve fiber layer (RNFL) defects between fellow eyes of glaucoma patients measured with optical coherence tomography (OCT).

Design: Observational, cross-sectional study.

Methods: Seventy-seven glaucoma patients (154 eyes) underwent OCT (Stratus) imaging with the fast RNFL thickness protocol in both eyes.

Detection of early glaucoma with optical coherence tomography (StratusOCT).

Purpose: To evaluate the performance of optical coherence tomography (StratusOCT) for discriminating eyes with early glaucoma from normal eyes.

Methods: Thirty eyes with established early glaucomatous visual field defects (EGVF group), 30 eyes with evidence of early glaucomatous optic neuropathy with normal standard achromatic perimetry [early glaucoma by disc (EGD)], and 33 age-matched normal eyes with good quality StratusOCT nerve fiber layer (NFL) images were enrolled. Average NFL thickness and NFL thickness at quadrants and sectors, areas under receiver operator characteristic curves, and sensitivities at 80% and 90% specificity were evaluated.

Development of an odd-Z-projectile reaction for heavy element synthesis: 208Pb(64Ni,n)271Ds and 208Pb(65Cu,n)(272)111.

Seven 271Ds decay chains were identified in the bombardment of 208Pb targets with 311.5 and 314.3 MeV 64Ni projectiles using the Berkeley Gas-filled Separator.

Chemical investigation of hassium (element 108).

The periodic table provides a classification of the chemical properties of the elements. But for the heaviest elements, the transactinides, this role of the periodic table reaches its limits because increasingly strong relativistic effects on the valence electron shells can induce deviations from known trends in chemical properties. In the case of the first two transactinides, elements 104 and 105, relativistic effects do indeed influence their chemical properties, whereas elements 106 and 107 both behave as expected from their position within the periodic table.

Comparison of optic nerve imaging methods to distinguish normal eyes from those with glaucoma.

Purpose: To compare the ability of qualitative assessment of optic nerve head stereophotographs (ONHPs), confocal scanning laser ophthalmoscopy (CSLO), scanning laser polarimetry (SLP), and optical coherence tomography (OCT) to distinguish normal eyes from those with early to moderate glaucomatous visual field defects.

Methods: Eighty-nine eyes (63 normal, 63 age-matched with glaucoma) of 89 subjects more than 40 years of age were studied. Receiver operating characteristic (ROC) curves were generated from discriminant analysis of CSLO, SLP, and OCT measurements and from ONHP scores.

Chemical characterization of bohrium (element 107).

The arrangement of the chemical elements in the periodic table highlights resemblances in chemical properties, which reflect the elements' electronic structure. For the heaviest elements, however, deviations in the periodicity of chemical properties are expected: electrons in orbitals with a high probability density near the nucleus are accelerated by the large nuclear charges to relativistic velocities, which increase their binding energies and cause orbital contraction. This leads to more efficient screening of the nuclear charge and corresponding destabilization of the outer d and f orbitals: it is these changes that can give rise to unexpected chemical properties.

Evidence for new isotopes of element 107: 266Bh and 267Bh.

New neutron rich isotopes 267107Bh and 266107Bh were produced in bombardments of a 249Bk target with 117-MeV and 123-MeV 22Ne ions at the Lawrence Berkeley National Laboratory 88-Inch Cyclotron. Identification was made by observation of correlated alpha-particle decays between the Bh isotopes and their Db and Lr daughters using a rotating wheel system. 267Bh was produced with a cross section of approximately 70 pb and decays with a 17(+14)(-6) s half life by emission of alpha particles with an average energy of 8.

Effects of the CRF(1) receptor antagonist, CP 154,526, in the separation-induced vocalization anxiolytic test in rat pups.

CRF(1) receptor antagonists have been proposed as novel pharmacological treatments for depression, anxiety and stress disorders. The primary goal of the present study was to evaluate the effects of the CRF(1) receptor antagonist, CP 154,526, in the separation-induced vocalization (SIV) model of anxiety. Nine- to 11-day-old rat pups were separated from their litter and the effects of intraperitoneally administered test compounds on the elicited ultrasonic vocalizations were measured.

The allele-specific suppressor sup-39 alters use of cryptic splice sites in Caenorhabditis elegans.

Mutations in the Caenorhabditis elegans sup-39 gene cause allele-specific suppression of the uncoordination defect of unc-73(e936). e936 is a point mutation that changes the canonical G at the 5' end of intron 16 to a U. This mutation activates three splice donors, two of which define introns beginning with the canonical GU.

A novel acidophilic RNA motif that recognizes coenzyme A.

Specific recognition of nucleotide cofactors by RNA may be important in engineering new RNA enzymes (ribozymes). Although in vitro selections (SELEX) have identified nucleic acid motifs ("aptamers") that bind a variety of adenosine cofactors, none of these recognizes coenzyme A (CoA), the primary biological cofactor used in acyltransfer reactions. We used SELEX experiments with two random RNA pools to identify aptamers that bind CoA.

RNA aptamers to the peptidyl transferase inhibitor chloramphenicol.

Background: The problem of how macromolecules adopt specific shapes to recognize small molecules in their environment is readily addressed through in vitro selections (the SELEX protocol). RNA-antibiotic interactions are particularly attractive systems for study because they provide an opportunity to expand our understanding of molecular recognition by RNA and to facilitate ribosomal modeling. Specifically, the antibiotic chloramphenicol (Cam) naturally binds bacterial ribosomes in the 'peptidyl transferase loop' of 23S ribosomal RNA to inhibit peptide bond formation.

Phylogenetic relationships among hypotrichous ciliates determined with the macronuclear gene encoding the large, catalytic subunit of DNA polymerase alpha.

The complete macronuclear DNA polymerase alpha gene, previously sequenced in Oxytricha nova, has been cloned from a genomic macronuclear library and sequenced for the hypotrich O. trifallax. Macronuclear DNA clones of DNA polymerase alpha encoding approximately 1000 amino acids, or approximately two-thirds of the open reading frame, have been obtained by PCR and sequenced for Halteria grandinella, Holosticha species, Paraurostyla viridis, Pleurotricha lanceolata, Stylonychia lemnae Teller, Sty.

Evolution of internal eliminated segments and scrambling in the micronuclear gene encoding DNA polymerase alpha in two Oxytricha species.

To learn about the evolution of internal eliminated segments (IESs) and gene scrambling in hypotrichous ciliates we determined the structure of the micronuclear (germline) gene encoding DNA polymerasealpha(DNA polalpha) in Oxytricha trifallax and compared it to the previously published structure of the germline DNA polalphagene in Oxytricha nova . The DNA polalphagene of O.trifallax contains 51 macronuclear-destined segments (MDSs) separated by 50 IESs, compared to 45 MDSs and 44 IESs in the O.

The germline gene encoding DNA polymerase alpha in the hypotrichous ciliate Oxytricha nova is extremely scrambled.

We report the structure of the micronuclear (germline) gene encoding the large catalytic subunit of DNA polymerase alpha (DNA pol alpha) in the ciliate Oxytricha nova. It contains 44 internal eliminated segments (IESs) that divide the gene into 45 macronuclear-destined segments (MDSs) that are in a non-randomly scrambled order with an inversion near the gene center. Odd numbered MDSs 29-43, containing 230 bp out of a total of 4938 bp of macronuclear sequence, are missing from the 14 kb cloned gene.

Specific Sequestering Agents for the Actinides. 29. Stability of the Thorium(IV) Complexes of Desferrioxamine B (DFO) and Three Octadentate Catecholate or Hydroxypyridinonate DFO Derivatives: DFOMTA, DFOCAMC, and DFO-1,2-HOPO. Comparative Stability of the Plutonium(IV) DFOMTA Complex(1).

The metal complex stability constants of Th(IV) with desferrioxamine B (DFO) and three octadentate derivatives [N-(2,3-dihydroxy-4-carboxybenzoyl)desferrioxamine B (DFOCAMC), N-(1,2-dihydro-1-hydroxy-2-oxopyridin-6-yl)carbonyl)desferrioxamine B (DFO-1,2-HOPO) and N-(2,3-dihydroxy-4-(methylamido)benzoyl)desferrioxamine B (DFOMTA)] have been determined. The formation constant of the Pu(IV)/DFOMTA complex has also been determined, and the formation constants have been estimated for the other Pu(IV) complexes of octadentate DFO derivatives. The DFO derivatives form 1:1 complexes with Th(IV) in aqueous solution.

Catalepsy as a rodent model for detecting antipsychotic drugs with extrapyramidal side effect liability.

The predictive validity of catalepsy as a rodent model for detecting the extrapyramidal side effects (EPS) of antipsychotic drugs was recently questioned when the novel antipsychotic savoxepine produced little catalepsy in rodents while producing significant EPS in schizophrenic patients. Because catalepsy is viewed as an important model for predicting EPS, we decided to re-evaluate the effects of savoxepine. Savoxepine, clozapine, haloperidol, olanzapine, ORG 5222, raclopride, and risperidone were examined in two tests for catalepsy (grid and bar tests) in male Sprague-Dawley rats.