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At least 1,153 records · Page 64Linked to original sources
PubMed1990

Resting electrocardiographic abnormalities suggestive of asymptomatic ischemic heart disease associated with non-insulin-dependent diabetes mellitus in a defined population.

The prevalence of ischemic heart disease (IHD) in older adults by glucose tolerance status was evaluated in 2,223 white men and women, aged 50-89 years, in the Rancho Bernardo cohort who were studied between 1984 and 1987. Impaired glucose tolerance (IGT) and non-insulin-dependent diabetes mellitus (NIDDM) were classified according to World Health Organization criteria. End points of ischemic heart disease were defined by Rose Questionnaire and resting electrocardiogram (ECG) according to the Minnesota Code. IHD by electrocardiographic changes was classified as asymptomatic (without history of chest pain or overt IHD) or symptomatic (with history). IHD by all criteria combined was significantly more common in men and women with NIDDM, and in women with IGT, than in those with normal glucose tolerance. The prevalence of myocardial infarction, defined by major Q wave, Rose Questionnaire chest pain criteria, or personal history, was higher in persons with NIDDM than in persons without; the difference was highly significant in women (odds ratio, 2.08 [1.22, 3.56]; p = 0.009). Angina pectoris was not significantly related to NIDDM or IGT in either sex. Electrocardiographic evidence of asymptomatic IHD was significantly more prevalent in both men and women with NIDDM as compared with those with normal glucose tolerance (odds ratios, 1.75 [1.10, 2.81] for men and 1.80 [1.07, 3.01] for women; p less than 0.05). This significant association persisted after excluding persons on digitlis or diuretic therapy and, in women, was also independent of the effect of major known IHD risk factors. These population-based data are consistent with clinical reports suggesting an association of diabetes with silent myocardial infarction or ischemia. The presence of ischemic resting electrocardiographic abnormalities in the asymptomatic diabetic patient is likely to have prognostic and therapeutic implications.

Aged↗
PubMed1997

Effect of age, birth cohort, and period of death on cerebrovascular mortality in Spain, 1952 through 1991.

BACKGROUND AND PURPOSE: The continued decrease in cerebrovascular disease in Spain remains unexplained. Age-period-cohort analysis enables description of birth cohort and period-of-death components. This study sought to describe these effects on the decline of stroke mortality in Spain. METHODS: Deaths due to cerebrovascular diseases in the period from 1952 through 1991 and the corresponding population figures were grouped into 11 age groups and 8 5-year periods, from which age-specific mortality rates for 18 birth cohorts were then computed. These were plotted for graphical presentation purposes and fitted to Poisson regression models to assess age, period, and cohort effects. RESULTS: An exponential age effect was present for both sexes regardless of cohort or period. A definite downward period effect was observable from 1962 to 1991, except for a sharp fall and peak in the periods 1967 to 1971 and 1972 to 1976, respectively, which was possibly ascribable to changes in diagnostic and coding practices. Age- and period-adjusted stroke mortality increased for earlier cohorts and decreased for generations born between 1892 and 1940. For post-1940 generations, there was an increasing risk of stroke mortality. CONCLUSIONS: The results suggest that a decrease in incidence coupled with an increase in survival may account for the observed decline in stroke mortality, but further studies on the Spanish population are needed to assess these findings. Although not yet definitive, there are signs of an increase in incidence among the more recent generations. If the decreasing period effect fails to offset this increase, future years may see a deceleration in the current decline in stroke mortality.

Adult↗
PubMed1988

New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.

We have identified a beta-thalassemia gene that carries a novel nonsense mutation in a Chinese patient. This mutation, a G to T substitution at the first position of codon 43, changes the glutamic acid coding triplet (GAG) to a terminator codon (TAG). Based on oligonucleotide hybridization studies of 78 Chinese and Southeast Asian beta-thalassemia chromosomes, we estimate that this mutation accounts for a small minority of the beta-thalassemia mutations in that population. Study of the expression of this cloned gene in a transient expression system demonstrated a 65% decrease in levels of normally spliced mutant beta-globin mRNA. However, the study of reticulocyte RNA isolated from an individual heterozygous for this mutation demonstrated a total absence of this mutant mRNA in vivo. The basis for this big discrepancy between the level of accumulated mRNA in vivo and in vitro is probably the result of differences in the stabilities of the mutant mRNA in erythroid cells.

Amino Acid Sequence↗
PubMed2004

Genome wide in silico SNP-tumor association analysis.

BACKGROUND: Carcinogenesis occurs, at least in part, due to the accumulation of mutations in critical genes that control the mechanisms of cell proliferation, differentiation and death. Publicly accessible databases contain millions of expressed sequence tag (EST) and single nucleotide polymorphism (SNP) records, which have the potential to assist in the identification of SNPs overrepresented in tumor tissue. METHODS: An in silico SNP-tumor association study was performed utilizing tissue library and SNP information available in NCBI's dbEST (release 092002) and dbSNP (build 106). RESULTS: A total of 4865 SNPs were identified which were present at higher allele frequencies in tumor compared to normal tissues. A subset of 327 (6.7%) SNPs induce amino acid changes to the protein coding sequences. This approach identified several SNPs which have been previously associated with carcinogenesis, as well as a number of SNPs that now warrant further investigation CONCLUSIONS: This novel in silico approach can assist in prioritization of genes and SNPs in the effort to elucidate the genetic mechanisms underlying the development of cancer.

Databases, Genetic↗
PubMed1999

The dorsal-open group gene raw is required for restricted DJNK signaling during closure.

During dorsal closure in Drosophila melanogaster, cells of the lateral epidermis migrate over the amnioserosa to encase the embryo. At least three classes of dorsal-open group gene products are necessary for this morphogenetic movement. Class I genes code for structural proteins that effect changes in epidermal cell shape and motility. Class II and III genes code for regulatory components of closure: Class II genes encode Drosophila Jun amino (N)-terminal kinase (DJNK) signaling molecules and Class III genes encode Decapentaplegic-mediated signaling molecules. All characterized dorsal-open group gene products function in the epidermis. Here we report a molecular and genetic characterization of raw, a newly defined member of the Class II dorsal-open group genes. We show that the novel protein encoded by raw is required for restriction of DJNK signaling to leading edge epidermal cells as well as for proper development of the amnioserosa. Taken together, our results demonstrate a role for Raw in restriction of epidermal signaling during closure and suggest that this effect may be mediated via the amnioserosa.

Alleles↗
PubMed2005

Inhibition of PACAP activity by a receptor antagonist results in changes in cell cycle and apoptotic proteins in chick neuroblasts.

We showed previously that early chick neuroblasts stop proliferating and undergo apoptosis when deprived of endogenous pituitary adenylate cyclase-activating polypeptide (PACAP). To identify proteins involved in these processes, we blocked the primary PACAP receptor and determined protein changes using isotope-coded affinity tag (ICAT) analysis. Cell cycle exit was characterized by a decrease in proteins regulating ribosome biogenesis and protein translation. Apoptosis was linked directly to a tumor suppressor that increases apoptosome activity and indirectly to reduced mitochondrial activity. ICAT analysis, combined with flow cytometric analysis, suggested that some cells were differentiating, rather than undergoing apoptosis. In summary, we have confirmed that withdrawal of PACAP from early chick neuroblasts causes cell cycle exit and apoptosis, and identified proteins involved in proliferation, exit, apoptosis, and possibly differentiation.

Animals↗
PubMed2004

Epidemiologic features of Kawasaki disease in Taiwan, 1996-2002.

OBJECTIVE: Kawasaki disease (KD) is the most common acquired heart disease in children worldwide. The incidence of KD varies among different countries, with Asian countries supposedly having higher incidences than Western countries. However, the incidence of KD in Taiwan has not been well investigated. METHODS: Since the implementation of Taiwan's National Health Insurance (NHI) in 1995, NHI has covered health care for >96% its population. Using the NHI database from 1996 to 2002, we investigated epidemiologic features of KD (International Classification of Diseases, Ninth Revision, code 446.1), the rate of coronary artery aneurysm formation (International Classification of Diseases, Ninth Revision, code 414.11), and the change in incidence during the recent 7 years. We also compared the annual incidences in Taiwan with those reported by other countries. RESULTS: During the 7-year study period, KD occurred most frequently in the summer and least frequently in winter. It is interesting that the highest peak occurred in the summer of 1998 at the same time that Taiwan's enterovirus 71 epidemic was occurring. Ninety-one percent of KD cases occurred in children who were <5 years old, and the male-to-female ratio was 1.70:1. Recurrence of KD was found in 1.3% (94 of 7305) of these children, and coronary artery aneurysm was found in 7.3% (536 of 7305). The annual incidence per 100,000 children was 146 in children <1 year old, 98 in 1-year-old children, 51 in 2-year-old children, 28 in 3-year-old children, 19 in 4-year-old children, and 5.3 in 5- to 9-year-old children; the incidence of KD decreased with increased age. The overall incidence was 66 cases per 100,000 children <5 years old from 1996 to 2002 with the annual incidence not differing significantly during the 7-year study period. CONCLUSIONS: KD in Taiwan occurs more frequently in boys and in the summer months. During the 7-year study period, the annual KD incidence in Taiwan of 66/100000 in children <5 years old was the second highest in the world after Japan.

Adolescent↗
PubMed1996

[The discussion on induced abortion in the Brazilian Congress: the role of the women's movement]

Induced abortion has been discussed in Brazil for many years without producing changes in the Penal Code in force since 1940 and according to which it is illegal and a crime against life. There are only two circumstances in which induced abortion is allowed: when there is no other recourse for saving the pregnant woman' life, and when the pregnancy resulted from rape and the abortion is preceded by the woman's informed consent. The purpose of this article is to show how the abortion problem has been dealt with under executive and legislative policies, focusing especially on discussion in Congress considering the role of organized women's groups. The study focuses on the legislative debate on induced abortion and how it was preceded, accompanied, and followed by actions by the women's groups. Other political and social actors involved in the debate, such as the Catholic Church, sectors of the medical community, and protestant religions are mentioned.

Journal Article↗
PubMed2006

Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity.

OBJECTIVE: To describe the first report on a three-generation family presenting typical features of Saethre-Chotzen syndrome, in which the Q289P mutation in the FGFR2 gene was detected. DESIGN: Dysmorphological evaluation was performed by a clinical geneticist. Direct sequencing of the polymerase chain reaction-amplified coding region of TWIST and screening for the P250R mutation in the FGFR3 gene were performed. Exons IIIa and IIIc of FGFR2 were sequenced also. The mutation was confirmed by both restriction-enzyme digestion and allelic-specific polymerase chain reaction. RESULTS: Neither TWIST gene analysis nor analysis of the P250R mutation on gene FGFR3 showed mutation within the coding sequence. A nucleotide change from CAG to CCG in exon IIIa of the FGFR2 gene that caused a Q289P mutation was detected, although exon IIIc in the propositus was normal. These same results were detected in his mother, but no other members of the kindred presented clinical features consistent with Saethre-Chotzen syndrome. CONCLUSIONS: This mutation was previously reported in individuals with Crouzon and Jackson-Weiss syndromes. The FGFR2 mutation in the family with Saethre-Chotzen syndrome herein reported reinforces the idea of an interaction among TWIST and FGFR genes during development. Absence of the Q289P mutation in some affected individuals in this family is discussed.

Acrocephalosyndactylia↗
PubMed2002

Histamine genomics in silico: polymorphisms of the human genes involved in the synthesis, action and degradation of histamine.

BACKGROUND: Histamine is a ubiquitous biogenic amine involved in the regulation of numerous basic physiological and pathophysiological processes. The DNA sequences of the genes encoding proteins (enzymes and receptors) that participate in the synthesis, degradation and cellular binding of histamine are already identified. OBJECTIVE: We analyzed the in silico available human sequences to find genetic polymorphisms in histamine-related genes (L-histidine decarboxylase, histamine receptors, histamine N-methyl transferase and diamine-oxidase), and compared these data with findings concerning structure-function relationships in order to get information about the possible pathophysiological relevance of these polymorphisms. METHODS: Sequence analysis was performed at the National Center for Biotechnology Information Database. The search tool BLAST was applied. RESULTS: Several sequence variations were found, and it is conceivable that some of these genetic polymorphisms may be related to various pathological conditions. Among sequence variations, variants with no amino acid change, variants resulting in amino acid alterations, and many nucleotide changes involving non-coding sequences were revealed. CONCLUSIONS: Histamine genomics may provide a new tool for medical prediction and drug design in the future.

Histamine↗
PubMed1990

Hb Hekinan observed in three Chinese from Macau; identification of the GAG----GAT mutation in the alpha 1-globin gene.

Hb Hekinan, an alpha chain variant that is characterized by a Glu----Asp mutation at position alpha 27, was observed in three Chinese females attending a prenatal clinic in Macau. The relative quantities of the stable hemoglobin were 13-14% (average 13.3%); its identification was greatly aided by the separation and purification of the peptides by reversed phase high performance liquid chromatography. Dot-blot analysis of amplified DNA with 32P-labeled probes located the mutation in codon 27 of the minor alpha 1-globin gene; the change involved a GAG (coding for glutamic acid) to GAT (coding for aspartic acid) mutation.

Adult↗
PubMed2002

Valuing neurosurgery services: part I. The historical development and interrelationships of current procedural terminology and the medicare fee schedule.

Current Procedural Terminology (CPT) standardizes medical procedure coding for billing and reimbursement. Since adoption of CPT coding as the basis for the Medicare Fee Schedule (MFS) in 1992, CPT coding policies and policy changes have been influenced not only by medical necessity and customary practice, but also increasingly by Medicare payment policies. The MFS created regulatory price control in the United States medical market based on widespread adoption of modified MFS by private payers and benchmark MFS fees governed by federal budget limitations and set annually by government agency (Centers for Medicare and Medicaid Services).

Fee Schedules↗
PubMed2000

PfPK6, a novel cyclin-dependent kinase/mitogen-activated protein kinase-related protein kinase from Plasmodium falciparum.

We have isolated a novel protein kinase cDNA, PfPK6, by differential display RT-PCR (DDRT-PCR) of mRNA obtained from different asexual erythrocytic stages of Plasmodium falciparum, which shows sequence similarity to both cyclin-dependent kinase (CDK) and mitogen-activated protein kinase (MAPK) family members. The 915 bp open reading frame (ORF) is interrupted by seven introns and encodes a 305-residue polypeptide with a predicted molecular mass of 35848 Da. Several cDNA clones with some of the intron sequences were isolated, indicating alternate or defective splicing of PfPK6 transcripts because the gene seems to be a single copy located on chromosome 13. The similarity of the catalytic domain of PfPK6 to those of CDK2 and MAPK is 57.3% and 49.6%, respectively. The signature PSTAIRE (single-letter amino acid codes) CDK motif is changed to SKCILRE in PfPK6. The TXY residues that are phosphorylated in MAPKs for their activation are T(173)PT in PfPK6. Three size classes of PfPK6 transcripts of 6.5, 2.0 and 1.1 kb are up-regulated during the transition of P. falciparum from ring to trophozoite. Western blot analysis suggested the expression of a 35 kDa polypeptide in trophozoites and schizonts. Immunofluorescence studies indicated both nuclear and cytoplasmic localization of PfPK6 in trophozoite, schizont and segmenter stages. In vitro, recombinant PfPK6 phosphorylated itself and also exogenous substrates, histone and the small subunit of the malarial ribonucleotide reductase (R2). The kinase activity of PfPK6 is sensitive to CDK inhibitors such as olomoucine and roscovitine. PfPK6 showed a preference for Mn(2+) over Mg(2+) ions as a cofactor. The Lys(38)-->Arg mutant is severely defective in its interaction with ATP and bivalent cations and somewhat defective in catalytic rate for R2 phosphorylation.

Alternative Splicing↗
PubMed2001

Molecular bases of odor discrimination: Reconstitution of olfactory receptors that recognize overlapping sets of odorants.

The vertebrate olfactory system discriminates a wide variety of odorants by relaying coded information from olfactory sensory neurons in the olfactory epithelium to olfactory cortical areas of the brain. Recent studies have shown that the first step in odor discrimination is mediated by approximately 1000 distinct olfactory receptors, which comprise the largest family of G-protein-coupled receptors. In the present study, we used Ca(2+) imaging and single-cell reverse transcription-PCR techniques to identify mouse olfactory neurons responding to an odorant and subsequently to clone a receptor gene from the responsive cell. The functionally cloned receptors were expressed in heterologous systems, demonstrating that structurally related olfactory receptors recognized overlapping sets of odorants with distinct affinities and specificities. Our results provide direct evidence for the existence of a receptor code in which the identities of different odorants are specified by distinct combinations of odorant receptors that possess unique molecular receptive ranges. We further demonstrate that the receptor code for an odorant changes with odorant concentration. Finally, we show that odorant receptors in human embryonic kidney 293 cells couple to stimulatory G-proteins such as Galphaolf, resulting in odorant-dependent increases in cAMP. Odor discrimination is thus determined by differences in the receptive ranges of the odorant receptors that together encode specific odorant molecules.

Animals↗
PubMed2000

Medicare program; prospective payment system for hospital outpatient services. Health Care Financing Administration (HCFA), HHS. Interim final rule with comment period.

This interim final rule with comment period provides for the annual update to the Medicare hospital outpatient prospective payment system conversion factor that is used to calculate the payment amount for each payment group, effective January 1, 2001. It also updates the wage index values and incorporates the year 2001 changes in the procedure codes that are used to make payments under this system. In this rule, we are also responding to public comments received on those portions of the April 7, 2000 final rule with comment period (which established the hospital outpatient prospective payment system) that implemented related provisions of the Balanced Budget Refinement Act (BBRA) of 1999. In addition, we are responding to public comments on the August 3, 2000 interim final rule with comment period that modified the April 7, 2000 final rule with comment period by revising the criteria used to define new or innovative medical devices, drugs, and biologicals eligible for transitional pass-through payments and correcting the criteria for grandfathering provider-based Federally Qualified Health Centers (FQHC) into the prospective payment system.

Ambulatory Care↗
PubMed1988

Decree of 12 December 1983.

This Decree, which came into force on 26 March 1984, makes the following changes in the Civil Code of the Federal District of Mexico: 1) nonmarital life partners have a right to inherit from one another if they have lived together for five years or have common children; 2) such life partners are responsible for the support of each other; 3) marriage may be dissolved on a no fault basis after two years' marriage; 4) the custody of children upon divorce is to be determined on the basis of what is best for the child, without consideration of which spouse is at fault; 5) upon divorce, the wife has the right to support for a period equal to the length of the marriage if her own income is insufficient to support herself and she has not entered into any marital or similar relationship; and 6) upon divorce, the husband has the same right if he is unable to work and his own income is not sufficient to support himself.

Americas↗
PubMed2002

Screening for mutations in a novel retinal-specific gene among Chinese patients with retinitis pigmentosa.

OBJECTIVE: To identify and evaluate mutations in the RP1 gene among Chinese patients with retinitis pigmentosa (RP). METHODS: Leukocyte DNA of 92 RP patients were collected in Hong Kong. Sequence changes of the entire coding region of the RP1 gene were examined using PCR, conformation sensitive gel electrophoresis and DNA sequencing. RESULTS: In total, 1 nonsense mutation and 1 nonsense variant as well as 10 missense alterations were identified in the RP1 gene, among which, Arg677Ter was found in 1 RP patient and another nonsense variant, Arg1933Ter, was identified in 3 normal individuals and 1 patient with Stargardt's disease, suggesting its nonpathogenicity. Arg77Ter is expected to lead to large disruptions of the encoded protein. CONCLUSIONS: The nonpathogenicity of Arg1933Ter indicates that the C-terminal 224 residues of RP1 protein may be not critical for RP1. The most C-terminal truncation previously reported was due to Tyr1053 (1-bp del) and occurred in RP patients. Thus RP can be caused by reduction in the level of the region of RP1 protein after codon 1052 but before 1933. To ascertain such a proposition, genotypes of more RP patients may reveal more RP causative mutations and more sequence alterations different than those of other ethnic groups.

Adolescent↗