Rigid endoscopy for monitoring indirect vocal fold injection.
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Adult↗
Biomedical subjects
N Roy
Publications and source records attributed to N Roy.
CYP17 genotype and breast cancer risk.
The MspAI polymorphism in the 5' untranslated region of CYP17 has been evaluated as a breast cancer risk factor in a hospital-based case-control study in New York City. The study population consisted of 363 women [123 breast cancer patients and 240 patient controls (123 benign breast disease without atypical hyperplasia, 117 women without breast disease)]. There were 224 Caucasians (76 cases, 148 controls), 55 African-Americans (20 cases, 35 controls) and 84 Hispanics (27 cases, 57 controls); 142 premenopausal women and 221 postmenopausal women. Consistent with a previous report (Feigelson et al., Cancer Res., 57: 1063-1065, 1997) we found no evidence to implicate the minor variant (restriction site present allele, designated A2) as a breast cancer risk factor. Furthermore, we sought evidence to implicate the minor variant of CYP17 in the development of more aggressive breast cancers (n = 38/121) as had been reported previously. Although confidence intervals (CI) overlap, the data presented here do not provide support for previously reported findings (odds ratio, 0.9; 95% CI, 0.4-2.0; n = 38 versus odds ratio, 2.5; 95% CI, 1.1-5.2; n = 40). Clearly this question needs to be resolved in a larger study. No evidence was found to support the contention that inheritance of the minor variant is a predictor of early age at menarche. Allelic frequencies between different ethnic groups were not found to be different with the exception of Hispanic controls, in which the genotypic distribution was not consistent with the Hardy-Weinberg equilibrium.
Black People↗
The c-IAP-1 and c-IAP-2 proteins are direct inhibitors of specific caspases.
The inhibitor of apoptosis (IAP) family of proteins are highly conserved through evolution. However, the mechanisms by which these proteins interfere with apoptotic cell death have been enigmatic. Recently, we showed that one of the human IAP family proteins, XIAP, can bind to and potently inhibit specific cell death proteases (caspases) that function in the distal portions of the proteolytic cascades involved in apoptosis. In this study, we investigated three of the other known members of the human IAP family, c-IAP-1, c-IAP-2 and NAIP. Similarly to XIAP, in vitro binding experiments indicated that c-IAP-1 and c-IAP-2 bound specifically to the terminal effector cell death proteases, caspases-3 and -7, but not to the proximal protease caspase-8, caspases-1 or -6. In contrast, NAIP failed to bind tightly to any of these proteases. Recombinant c-IAP-1 and c-IAP-2 also inhibited the activity of caspases-3 and -7 in vitro, with estimated Kis of <=0.1 microM, whereas NAIP did not. The BIR domain-containing region of c-IAP-1 and c-IAP-2 was sufficient for inhibition of these caspases, though proteins that retained the RING domain were somewhat more potent. Utilizing a cell-free system in which caspases were activated in cytosolic extracts by addition of cytochrome c, c-IAP-1 and c-IAP-2 inhibited both the generation of caspase activities and proteolytic processing of pro-caspase-3. Similar results were obtained in intact cells when c-IAP-1 and c-IAP-2 were overexpressed by gene transfection, and apoptosis was induced by the anticancer drug, etoposide. Cleavage of c-IAP-1 or c-IAP-2 was not observed when interacting with the caspases, implying a different mechanism from the baculovirus p35 protein, the broad spectrum suicide inactivator of caspases. Taken together, these findings suggest that c-IAP-1 and c-IAP-2 function similarly to XIAP by inhibiting the distal cell death proteases, caspases-3 and -7, whereas NAIP presumably inhibits apoptosis via other targets.
Antineoplastic Agents, Phytogenic↗
Apolipoprotein E genotype in schizophrenia: frequency, age of onset, and neuropathologic features.
Apolipoprotein E (ApoE) genotype has been found to affect the expression of a variety of neuropsychiatric disorders. We determined ApoE genotype frequencies and their relationship to clinical and pathological features in a diverse cohort of individuals with schizophrenia. There were no differences in ApoE genotype frequencies between schizophrenics and controls. However, the ApoE epsilon 4 genotype was associated with a younger age of onset of schizophrenia, and in an elderly subsample, individuals with the epsilon 4 allele more frequently exhibited co-existent dementia and had more neurofibrillary pathology (although none of the cases met criteria for Alzheimer's disease). This examination of ApoE in relation to clinical and neurobiological features of schizophrenia suggests that it modifies the phenotypic expression of the disease.
Adult↗
The mcm17 mutation of yeast shows a size-dependent segregational defect of a mini-chromosome.
Mini-chromosome-maintenance (mcm) mutants were described earlier as yeast mutants which could not stably maintain mini-chromosomes. Out of these, the ARS-specific class has been more extensively studied and is found to lose chromosomes and mini-chromosomes due to a defect in the initiation of DNA replication at yeast ARSs. In the present study we have identified a number of mcm mutants which show size-dependent loss of mini-chromosomes. When the size of the mini-chromosome was increased, from about 15 kb to about 60 kb, there was a dramatic increase in its mitotic stability in these mutants, but not in the ARS-specific class of mutants. One mutant, mcm17, belonging to the size-dependent class was further characterized. In this mutant, cells carried mini-chromosomes in significantly elevated copy numbers, suggesting a defect in segregation. This defect was largely suppressed in the 60-kb mini-chromosome. A non-centromeric plasmid, the TRP1ARS1 circle, was not affected in its maintenance. This mutant also displayed enhanced chromosome-III loss during mitosis over the wild-type strain, without elevating mitotic recombination. Cloning and sequencing of MCM17 has shown it to be the same as CHL4, a gene required for chromosome stability. This gene is non-essential for growth, as its disruption or deletion from the chromosome did not affect the growth-rate of cells at 23 degrees C or 37 degrees C. This work suggests that centromere-directed segregation of a chromosome in yeast is strongly influenced by its length.
Cell Cycle Proteins↗
Manual circumlaryngeal therapy for functional dysphonia: an evaluation of short- and long-term treatment outcomes.
Manual circumlaryngeal therapy (manual laryngeal musculoskeletal tension reduction) was used to treat 25 consecutive functional dysphonia patients. Pre- and post-treatment audio recordings of connected speech and sustained vowel samples were submitted to auditory-perceptual and acoustical analysis to assess the immediate and long-term effects of a single treatment session. To complement audio recordings, subjects were interviewed in follow-up regarding the stability of treatment effects. Pre- and post-treatment comparisons demonstrated significant voice improvements. No significant differences were observed between post-treatment measures, suggesting that vocal gains were maintained. Interviews revealed 68% of subjects reported occasional partial recurrences, typically less than 4 days in duration, which resolved spontaneously. These results replicate and extend previous research suggesting the utility of manual circumlaryngeal therapy for functional voice disorders.
Adult↗
Psychological correlates of functional dysphonia: an investigation using the Minnesota Multiphasic Personality Inventory.
Abnormal psychological factors have been implicated in the development of functional dysphonia (FD). This investigation describes the personality and psychological characteristics of 25 female subjects who had received the diagnosis of FD. In all subjects symptoms were resolved after voice therapy. While vocally asymptomatic, these remitted subjects with FD completed the Minnesota Multiphasic Personality Inventory (MMPI), an objective personality questionnaire. When compared with a medical outpatient control group, the results showed that subjects with FD scored significantly higher on 7 of 10 clinical scales, suggesting an elevated degree of emotional maladjustment. A stepwise logistic discriminant analysis identified 2 clinical scales that provided valuable discriminatory power between the two groups. Scale 1 (Hs-hypochondriasis), which measures the number and type of reported somatic complaints, and scale 7 (Pt-psychasthenia), a measure of diffuse anxiety, discriminated the groups with 88% sensitivity and 89% specificity. The results suggested that in spite of symptom improvement after voice therapy, the subjects with FD continued to exhibit poor levels of adaptive functioning, which may represent trait-like vulnerability. The clinical implications of these results for voice practitioners are discussed.
Adolescent↗
Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes.
Dysregulation of apoptosis can result in inappropriate suppression of cell death, as occurs in the development of some cancers, or in failure to control the extent of cell death, as is believed to occur in acquired immunodeficiency and certain neurodegenerative disorders, such as spinal muscular atrophy (SMA). Recently, we isolated a candidate gene, encoding neuronal apoptosis inhibitor protein (NAIP), for SMA. This gene is homologous to two baculovirus inhibitor of apoptosis proteins (Cp-IAP and Op-IAP) and is partly deleted in individuals with type I SMA. A second SMA candidate gene encoding survival motor neuron (SMN), which is contiguous with the NAIP locus on 5q13.1, was also reported. Here we demonstrate a NAIP-mediated inhibition of apoptosis induced by a variety of signals, and have identified three additional human complementary DNAs and a Drosophila melanogaster sequence that are also homologous to the baculovirus IAPs. The four open reading frames (ORFs) possess three baculoviral inhibition of apoptosis protein repeat (BIR) domains and a carboxy-terminal RING zinc-finger. The human iap genes have a distinct but overlapping pattern of expression in fetal and adult tissues. These proteins significantly increase the number of known apoptotic suppressors.
Adult↗
Revascularisation of bone allografts following vascular bundle implantation: an experimental study in rats.
Revascularisation and cellular repopulation of fresh and cryopreserved allografts was observed following implantation of a vascular bundle in an experimental study in rats. Fresh and cryopreserved rat allografts were harvested from Lewis rats and implanted into Spraque-Dawley rats. The femoral vascular bundle was implanted into 2-cm segments of allograft placed in the medial aspect of the thigh of the recipient rats. Non-vascularised controls were used for comparison. Histological studies indicated the revascularisation pattern. Cryopreserved allografts with vascular bundle implantation showed early neovascularisation from the endosteal surface, 20% of the necrotic lacunae was repopulated with living cells at the end of 24 weeks. Fresh allografts with vascular implantation were rejected by the host immune mechanisms and showed early breakdown and fragmentation. Cellular repopulation was not observed in the non-vascularized allografts. Secondary vascularization following a vascular bundle implantation may enhance the biological properties of an allograft and therefore has significant potential clinical applications.
Animals↗
Muscle tension dysphonia and spasmodic dysphonia: the role of manual laryngeal tension reduction in diagnosis and management.
Excessive activity of the extralaryngeal muscles affects laryngeal function and contributes to a spectrum of interrelated symptoms and syndromes including muscle tension dysphonia and spasmodic dysphonia. Recognition of the role of extralaryngeal tension is helpful in ensuring proper diagnosis and selection of appropriate treatment. This report demonstrates the application of manual laryngeal musculoskeletal tension reduction techniques in the diagnosis and management of laryngeal hyperfunction syndromes. The manual technique consists of focal palpation to determine 1) extent of laryngeal elevation, 2) focal tenderness, 3) voice effect of applying downward pressure over the superior border of the thyroid lamina, and 4) extent of sustained voice improvement following circum-laryngeal massage. The clinical utility of this innovative approach is discussed.
Adult↗
Synthesis of the tetrasaccharide repeating unit of the antigen from Klebsiella type 2.
The disaccharide ethyl 2,4,6-tri-O-acetyl-3-O-(2,3,4,6-tetra-O-benzyl-alpha- D-glucopyranosyl)-1-thio-beta-D-glucopyranoside (6) and methyl 2,6-di-O-benzyl-3-O-(methyl 2,3,4-tri-O-benzyl-alpha-D- glucopyranosyluronate)-beta-D-mannopyranoside (21) have been synthesized and condensed in the presence of methyl triflate to afford a tetrasaccharide derivative. Removal of protecting groups gave methyl 3-O-(methyl alpha-D-glucopyranosyluronate)-4-O-(3-O-alpha-D- glucopyranosyl-beta-D-glucopyranosyl)-beta-D-mannopyranoside (23), the repeating unit of the antigen from Klebsiella type 2, in the form of its methyl ester methyl glycoside.
Antigens, Bacterial↗
Synthesis of the tetrasaccharide repeating unit of the antigen from Klebsiella type 20.
Starting from D-mannose, D-galactose and D-glucuronolactone, two disaccharide blocks, namely methyl 4,6-di-O-benzyl-2-O-(2,3,4,6-tetra-O-benzyl-beta-D-galactopyranosyl)- alpha-D-mannopyranoside, acting as acceptor, and ethyl 4,6-di-O-acetyl-2-O-allyl-3-O-(methyl 2,3,4-tri-O-acetyl-beta-D-gluco-pyranosyluronate)-1-thio-beta-D- galactopyranoside, acting as donor, were synthesised. The two disaccharides were then allowed to react to give, after deprotection, methyl 2-O-beta-D-galactopyranosyl-3-O-(3-O-beta-D-glucopyranosyluronic acid-alpha-D-galactopyranosyl)-alpha-D-mannopyranoside which is the methyl glycoside of the tetrasaccharide repeating unit of the said antigen.
Bacterial Capsules↗
Refined physical map of the spinal muscular atrophy gene (SMA) region at 5q13 based on YAC and cosmid contiguous arrays.
The gene for the autosomal recessive neurodegenerative disorder spinal muscular atrophy has been mapped to a region of 5q13 flanked proximally by CMS-1 and distally by D5S557. We present a 2-Mb yeast artificial chromosome (YAC) contig constructed from three libraries encompassing the D5S435/D5S629/CMS-1-SMA-D5S557/D5S112 interval. The D5S629/CMS-1-SMA-D5S557 interval is unusual insofar as chromosome 5-specific repetitive sequences are present and many of the simple tandem repeats (STR) are located at multiple loci that are unstable in our YAC clones. A long-range restriction map that demonstrates the SMA-containing interval to be 550 kb is presented. Moreover, a 210-kb cosmid array from both a YAC-specific and a chromosome 5-specific cosmid library encompassing the multilocus STRs CATT-1, CMS-1, D5F149, D5F150, and D5F153 has been assembled. We have recently reported strong linkage disequilibrium with Type I SMA for two of these STRs, indicating that the gene is located in close proximity to or within our cosmid clone array.
Base Sequence↗
The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy.
The spinal muscular atrophies (SMAs), characterized by spinal cord motor neuron depletion, are among the most common autosomal recessive disorders. One model of SMA pathogenesis invokes an inappropriate persistence of normally occurring motor neuron apoptosis. Consistent with this hypothesis, the novel gene for neuronal apoptosis inhibitory protein (NAIP) has been mapped to the SMA region of chromosome 5q13.1 and is homologous with baculoviral apoptosis inhibitor proteins. The two first coding exons of this gene are deleted in approximately 67% of type I SMA chromosomes compared with 2% of non-SMA chromosomes. Furthermore, RT-PCR analysis reveals internally deleted and mutated forms of the NAIP transcript in type I SMA individuals and not in unaffected individuals. These findings suggest that mutations in the NAIP locus may lead to a failure of a normally occurring inhibition of motor neuron apoptosis resulting in or contributing to the SMA phenotype.
Amino Acid Sequence↗
Determination of brain death with use of color duplex scanning in the intensive care unit setting.
OBJECTIVE: To determine if color flow duplex scanning (CFDS) can be used for rapid confirmation of presumed brain death. DESIGN: Pilot cohort study comparison of CFDS with radionuclide cerebral scanning (RCS) as the criterion standard. SETTING: Community-based level I trauma center intensive care unit. PATIENTS: Twenty-four patients who satisfied criteria for presumed brain death. MAIN OUTCOME MEASURE: Confirmation of presumed brain death. RESULTS: CFDS correctly identified 16 of 24 patients as brain dead, confirmed by RCS. Eight patients with brain flow on RCS were also correctly identified by CFDS. Only two of 24 patients survived their severe injuries. CONCLUSIONS: CFDS provides a uniform, cost-effective diagnostic tool for rapid confirmation of clinical brain death with 100% accuracy. Its use should complement RCS, given its rapid interpretation, portability, and economical assessment of presumed brain death.
Adolescent↗
A recombination event occurring within two complex 5q13.1 microsatellite repeat polymorphisms suggests a telomeric mapping of spinal muscular atrophy.
The gene for the childhood spinal muscular atrophies (SMAs) has been mapped to 5q13.1. The interval containing the SMA gene has been defined by linkage analysis as 5qcen-D5S629-SMA-D5S557-5qter. We have identified a recombination event within this interval on a type-I SMA chromosome. The recombination maps to a region of multilocus microsatellite repeat (MSR) markers, and occurs between different subloci of two such markers, CMS-1 and 7613. While the possibility of a novel mutation caused by the recombination cannot be discounted, we believe when viewed in the context of a similar recombination in a Dutch SMA family, a centromeric boundary at the recombination site for the critical SMA interval is likely. This new proximal boundary would reduce the minimal region harboring the SMA locus from approximately 1.1 Mb to approximately 600 kb.
Alleles↗
SMA genes: deleted and duplicated.
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Gene Deletion↗