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PubMed2002

Medicare fees for physician services are resource-based.

Beginning January 1, 1992, Medicare has relied on a resource-based relative value scale (RBRVS) to establish physician fees. Medicare pays 80 percent of the lower of the amount a physician bills for the service or the fee schedule amount. The patient is responsible for the remaining 20 percent, as well as the annual Part B deductible of $100, plus any additional amount the physician may be allowed to bill. Rarely is the billed amount below Medicare's fee schedule amount. Adoption of the RBRVS fee schedule severed the link between the amount a physician charged for a service and the amount Medicare paid for it. RBRVS implementation required significant changes in the coding system used to document and bill physician services, particularly medical visits and consultations.

Accounting↗
PubMed1992

p53 mutations in non-small cell lung cancer in Japan: association between mutations and smoking.

The p53 gene has been implicated as a tumor suppressor gene involved in the pathogenesis of lung cancer. Our previous study revealed that the p53 gene is frequently mutated with a distinct nucleotide substitution pattern in small cell lung cancer specimens in Japanese patients. In this study, we examined 30 primary, resected non-small cell lung cancer samples in Japanese patients using complementary DNA-polymerase chain reaction and sequencing. Mutations changing the p53 coding sequence were found in 14 of 30 tumor samples (47%), while G:C to T:A transversions which are uncommon in other cancers such as colon cancer were the most frequently observed mutations, in agreement with an earlier report on non-small cell lung cancer in American patients. Furthermore, the present study shows for the first time that in univariate and multivariate analyses, the presence of p53 mutations is closely associated with lifetime cigarette consumption.

Amino Acid Sequence↗
PubMed2004

Using computers for intensive care unit research.

A computerized clinical information system (CIS) is potentially a very important information tool for research and improving health care processes as well as for optimizing data management and thereby minimizing health care costs. The newest CISs automatically collect patient data from various sources, including monitors, the laboratory, radiology, and patient notes, and make the data highly organized and readily accessible. In the future CISs may be able to conduct signal analysis, assist in care decisions, provide advanced graphical data presentation, and generate warnings to clinicians. Most CIS systems include large databases, and the advent of relational databases has improved data retrieval and manipulation and thus made the data a powerful tool in outcomes research. On the whole CISs collect more frequent and more accurate data than do clinicians using paper-based data collection systems, but research continues on how accurate CIS data is, how to improve that accuracy, and how much data checking and correction is needed. At my institution we have used CIS data to study changes in patients' code status and to evaluate a protocol for arterial blood gas (ABG) testing. The primary challenges to optimizing a CIS are ensuring accurate data entry, learning to query the data so as to avoid misleading conclusions, and to administer and maintain the hardware and software so as to minimize the chance of data loss and system down time. CISs are in a relatively early stage of their development, and engineering improvements will eventually make CIS data highly accurate and easily accessible and queryable so that CISs become even more valuable for research.

Computer Systems↗
PubMed2001

Informatics in managed care: HIM adds value to data.

The third installment of the Journal of AHIMA's special series on managed care focuses on informatics--methods that add value to data, turning it into useful information. How do informatics and managed care fit together and what is HIM's role in this picture? The HIM professional's knowledge is critical to the health team responsible for the interpretation and use of statically valid information. For example, HIM professionals are well positioned in their understanding of the construct and application of coding classification systems (ICD-9-CM, CPT, etc.), and groupers (DRGs, APCs, ETGs, etc.). Their unique training positions them to understand the associated rules, principles, guidelines, and nuances associated with correct coding and grouping. And when codes or groupers change, HIM professionals work closely with the health team to ensure parity, validity and reliability of the appropriate data or data sets. Managed care organizations use value-added data, as you will see in this article, to evaluate contract pricing, develop contracts, evaluate existing services or detail benefit plans, process and in some instances pay claims, and report results to a number of interested parties. The previous article in this series ("Can You Manage Managed Care?" July/August 2001) focused on effective management of data, including data acquisition. This article takes us to the next level, where informatics creates value-added information, and discusses some important uses of this information within managed care. These articles build on two of the functional areas that form the HIM process within managed care organizations. Author Scott Stratton studied under the creators of DRGs and was involved in the development of their nursing home counterpart, RUGs. He also has worked with the creators of ETGs. As a result, he can present the perspective and context within which these systems were created and intended. and how they form the foundation for informatics as a functional area within managed care.

Diagnosis-Related Groups↗
PubMed2004

[Study of genic mutations of androgen receptor in hypospadias].

OBJECTIVE: To study genic mutation of androgen receptor in hypospadias in Chinese. METHODS: Ninety-two patients with hypospadias were selected for the AR gene study (penile 33, scrotal 49, perineal 10; cryptorchidism 15, micropenis 34, indirect hernia 3, augmentation of breast 2, other deformities 8; posses family history 23) while 93 health men as the control. The DNA was collected from 5 ml venous blood by using the method of phenol/chloroform, and quantified with the agarose gel electrophoresis. The 2-8 exons of AR genes were directly sequenced with a PCR technique. The locus of mutation,the change of amino acid caused by genic mutation and the functional influence of target organ were also analyzed. RESULTS: There were 4 mutations found from the ligand binding domain of AR: exon 4[1 locus:664(ATT-->ACT] and exon 7[3 locuses: 840(CGT-->CAT),855(CGC-->CAC),859(CTC-->CTA)] in experimental group. The amino acid change of Iso664Thr may te the first findings in the world. The mutation of 859(CTC-->CTA) didn't cause the change of the code amino acid. The main clinical symptoms of exon 4[664(ATT-->ACT) were micropenis, slight hypospadias and augmentation of breasts. The exon 7[840(CGT-->CAT), 855(CGC-->CAC)]was showing micropenis and severe hypospadias. The last mutation [859(CTC-->CTA)] of exon 7 showed mild hypospadias. CONCLUSIONS: The rate of exon 2-7 mutations of the androgen receptor was 4.3%. The mutations were concentrated on ligand binding domain(exon 4-7), and the main phenotypes were hypospadias accompanying with micropenis found in our experimental group.

Adolescent↗
PubMed2005

[Epigenetic phenomena of plant polyploids].

Epigenetic phenomena, heritable changes in phenotype, and hence in gene regulation, but not in DNA sequence, occur in the process of polyploidization in many plants. These phenomena include gene silencing, DNA methylation, nucleolar dominance, transposable elements activation and genomic imprinting. Epigenetic phenomena might be caused by gene silencing or alternative gene expression from intergenomic interaction. These could also be induced from the changes of histone coding, without DNA methylation. Furthermore, hypomethylation, chromatin reconstitution or transposable element activation could contribute to epigenetic phenomena. These modifications may give rise to the diversification of gene expressing, to the genetic and cytological diploidization, as well as to intergenomic coordination. This paper reviews epigenetic phenomena in many plants and their influence on evolution of plant genome, thus hint the likely pathway of research in this field.

DNA Transposable Elements↗
PubMed2005

Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity.

PURPOSE: Retinopathy of prematurity (ROP) is a leading cause of visual loss in the pediatric population. Mutations in the Norrie disease gene (NDP) are associated with heritable retinal vascular disorders, and have been found in a small subset of patients with severe retinopathy of prematurity. Varying rates of progression to threshold disease in different races may have a genetic basis, as recent studies suggest that the incidence of NDP mutations may vary in different groups. African Americans, for example, are less likely to develop severe degrees of ROP. We screened a large cohort of ethnically diverse patients for mutations in the entire NDP. METHODS: A total of 143 subjects of different ethnic backgrounds were enrolled in the study. Fifty-four patients had severe ROP (Stage 3 or worse). Of these, 38 were threshold in at least one eye (with a mean gestational age of 26.1 weeks and mean birth weight of 788.4 g). There were 36 patients with mild or no ROP, 31 parents with no history of retinal disease or prematurity, and 22 wild type (normal) controls. There were 70 African American subjects, 55 Caucasians, and 18 of other races. Severe ROP was noted in 29 African American subjects, 17 Caucasians, and 8 of other races. Seven polymerase chain reaction primer pairs spanning the NDP were optimized for denaturing high performance liquid chromatography and direct sequencing. Three primer pairs covered the coding region, and the remaining four spanned the 3' and 5' untranslated regions (UTR). RESULTS: Six of 54 (11%) infants with severe ROP had polymorphisms in the NDP. Five of the infants were African American, and one was Caucasian. Two parents were heterozygous for the same polymorphism as their child. One parent-child pair had a single base pair (bp) insertion in the 3' UTR region. Another parent-child pair had two mutations: a 14 bp deletion in the 5' UTR region of exon 1 and a single nucleotide polymorphism in the 5' UTR region of exon 2. No coding region sequence changes were found. No polymorphisms were observed in infants with mild or no ROP, or in the wild type controls. CONCLUSIONS: Of the six sequence alterations found, five were novel nucleotide changes: One in the 5' UTR region of exon 2, and four in the 3' UTR region of exon 3. The extent of NDP polymorphisms in this large, racially diverse group of infants is moderate. NDP polymorphisms may play a role in the pathogenesis of ROP, but do not appear to be a major causative factor.

3' Untranslated Regions↗
PubMed2006

p16 gene alterations in locally advanced squamous cell carcinoma of the head and neck.

We previously documented the presence of mutations/deletions in the tumor suppressor gene p16 in squamous cell carcinoma of the head and neck (SCCHN). However, the association of these p16 alterations with clinical outcome is unknown. In this study, RNA was isolated from 19 frozen SCCHN from 19 patients who were previously enrolled in the OSU intensification regimen 2. Quantitative real-time RT-PCR and direct sequencing analysis was then performed on the specimens to detect p16 gene alterations. Clinical outcome for each patient was updated and correlated with the p16 alterations found. Five tumor specimens were found to have no or very low expression of p16 when compared with normal tissue. The remaining 14 tumor samples demonstrated overexpression of p16 relative to the level of expression in normal tissue. Sequence analysis of the p16 RT-PCR product from these specimens allowed identification of mutational changes in the coding sequence of p16 in four of the SCCHN specimens. Subsequent analysis of clinical outcome associated with locoregional/distant failure demonstrated no correlation with either altered expression of p16 or mutational status of p16. Results from this study indicate that p16 alterations are frequently found in this cohort of SCCHN. However, p16 alterations alone do not appear to be associated with clinical outcome.

Adult↗
PubMed1991

The p53 gene is very frequently mutated in small-cell lung cancer with a distinct nucleotide substitution pattern.

The p53 gene has been implicated as a tumor-suppressor gene whose disruption is involved in the pathogenesis of common human cancers. The results of extensive analysis of p53 mutations in non-small cell lung cancers (NSCLCs) have revealed that p53 is mutated in 45% of NSCLC with base changes different from those of colon cancer. In this study, we examined 17 SCLC tumor samples taken directly from 15 patients as well as the corresponding nine tumor cell lines. Mutations changing the p53 coding sequence were found in 11 of 15 patients (73.3%) and showed a similar but distinct nucleotide substitution pattern compared with NSCLC, suggesting that a different mutagenic process is involved. In addition, a strong correlation was seen between the presence of p53 mutations in tumors and the successful establishment of the corresponding cell lines, suggesting that p53 mutations can confer a selective growth advantage in vitro (and probably also in vivo).

Amino Acid Sequence↗
PubMed1975

[Experimental results with systematically synthetized substances for antiviral chemotherapy / 4th communication: The role of physical binding in the synthesis of antiviral chemotherapeutics and its influence on potential mutagenic effects (author's transl)].

13 antiviral substances containing specific hydrogen bridge linkage systems out of the classes of 2-substituted 4-phenylthiazoles, 4-phenylimidazoles and indandiones-(1,3) were tested for their mutagenic potency in the host-mediated assay, in bone marrow of rats, in spermatogonia of mice and in the micronucleus test of rats. Only one substance, N1-methyl-N2-[4-phenylthiazolyl-(2)]-urea, was found to be mutagenic. This fact substantiates the hypothesis that the antiviral effectiveness of the substances is not caused by a chemical change in the coding system but by forming "physical" linkages like hydrogen bridge complexes with coding structures. Altogether 159 compounds of very different structures were investigated for their antiviral chemotherapeutic potency in 893 tests in cell cultures and 461 animal tests. It can be stated that compounds with a low molecular weight containing the "effective structures" (see article) show a larger yield of antiviral compounds than do substances without these structures (about 50% positive results in cell cultures and 25% in animals 15% and 0%, respectively).

Animals↗
PubMed1990

Mutations in the p53 gene are frequent in primary, resected non-small cell lung cancer. Lung Cancer Study Group.

The p53 gene has been implicated as a tumor suppressor gene with mutations found in common human cancers. We examined 51 early stage, primary, resected non-small cell lung cancer specimens using an RNAase protection assay and cDNA sequencing. Mutations changing the p53 coding sequence were found in 23/51 (45%) tumor specimens, but not in the corresponding normal lung, were distributed between codons 132 to 283, and included tumors with and without 17p allele loss. Fifteen of the 23 mutations lay in the predicted binding regions for SV40 large T antigen, and 14 were located in regions highly conserved between species. G to T transversions were a common result of p53 mutations in lung cancer compared to other cancers suggesting exposure to different mutagens. In univariate and multivariate analysis the presence of p53 mutations was associated with younger age and squamous histology. However, the presence of p53 mutations was not significantly associated with tumor stage, nodal status or sex and was found in all histologic types of lung cancer. We conclude that somatic mutations in the p53 gene play an important role in the pathogenesis of early stage non-small cell lung cancer.

Aged↗
PubMed1990

Specific expression of the ret proto-oncogene in human neuroblastoma cell lines.

The expression of the ret proto-oncogene (proto-ret), which possibly encodes two isoforms of a receptor-type tyrosine kinase, was examined in human tumor cell lines. Expression of the proto-ret mRNA was detected in all 11 neuroblastoma cell lines examined. The level of mRNA varied more than 100-fold in these neuroblastoma cell lines and was particularly high in three of them. On the other hand, 19 non-neuroblastoma tumor cell lines derived from solid tumors and a human diploid fibroblast cell line did not express any detectable levels of proto-ret mRNA. No remarkable amplification of the proto-ret or gross structural changes in the coding region were found in these neuroblastoma cell lines. The specific expression of the proto-ret in neuroblastomas suggests that the proto-ret product may have a role in cellular functions specific to neuroblastoma cells.

Blotting, Northern↗
PubMed1989

Murine myeloid leukemias with aberrant myb loci show heterogeneous expression of novel myb proteins.

Using a panel of anti-myb antibodies, we have examined the c-myb proteins present in the NFS-60 and ABPL-1, ABPL-2, and ABPL-4 tumor cell lines, all of which have an altered myb locus due to viral insertional mutagenesis. As predicted from previous DNA and RNA analysis, NFS-60 cells produce myb protein with a truncated C-terminus and a normal N-terminus. The three ABPL tumor cell lines studied here were previously shown to have undergone similar rearrangements towards the 5' end of myb locus and were expected to synthesize identical myb RNAs and proteins. These cell lines were found to produce myb proteins with N-terminal modifications. Surprisingly, however, the three cell lines were found to synthesize a heterogenous array of myb proteins of different sizes. These observations suggest that oncogenic activation of myb in ABPL tumors may involve additional changes in the coding region in addition to those occurring at the N-terminus.

Animals↗
PubMed1986

The somatosensory thalamus of the raccoon: properties of single neurons responsive to light mechanical stimulation of the forepaw.

These studies were undertaken to characterize the discharge properties of single neurons of the raccoon thalamic ventrobasal complex (VB) that respond to light mechanical stimulation of the glabrous surfaces of the forepaw. Microelectrodes were used to record the extracellular activity of 146 cells in anesthetized raccoons, and all neurons were histologically verified as falling within or along the boundaries of VB. Sixty-one neurons were tested for activation by electrical stimulaton of primarily somatosensory cortex. Of these, 88% were antidromically activated, 5% were synaptically activated, and the remaining 7% were unresponsive. Out of the total sample of 146 neurons, 136 had peripheral receptive fields (RFs) that were restricted to glabrous skin and revealed properties of modality and place-specificity predictable through knowledge of properties of primary mechanoreceptive afferents. Rapidly adapting (RA) neurons accounted for 77% of this modality-place-specific sample, while 19% were slowly adapting (SA), and 4% revealed properties indicative of input from Pacinian afferents (Pc). Absolute displacement thresholds were comparable for RA and SA neurons (range = 6-415 micron). Palmar RF areas (range = 3.3-328 mm2) were significantly larger than digital RF areas (range = 0.5-98.2 mm2). As defined by exponents (b) of power functions relating instantaneous discharge frequency to displacement ramp velocity, SA neurons formed a single, homogeneous group (range of values of b = 0.633-0.720). However, RA neurons fell into three distinct groups: those showing relatively steep functions (b = 0.559-0.938), those showing relatively flat functions (b = 0.146-0.334), and those showing discontinuous, or step, functions. A small number of neurons (7% of total sample) revealed "complex" properties, not predictable from knowledge of properties of primary afferents. These included five neurons whose RFs encompassed both glabrous and hairy skin, and several linear orientation, or "tactile edge," detectors. The present results, in conjunction with those of earlier studies of the raccoon dorsal column-medial lemniscal system, lead to the conclusion that different types of information transformation are emphasized at different levels of the system. Intramodality convergences (increases in RF area) occur primarily within the cuneothalamic relay, while changes in the coding of quantitative information are primarily a function of VB neurons. The appearance of linear orientation detectors--a type of tactile "feature detector"--indicates that the synthesis of information regarding complex spatial properties of stimuli has its beginnings within the somatosensory thalamus.

Animals↗
PubMed1994

Cancers of the soft tissues.

Soft tissue sarcomas are rare and occur more frequently among males (0.9-4.3 per 100,000 age adjusted to the world standard population) than females (0.7-2.6 per 100,000). The international variation in incidence is small, and little change has occurred over time. Mortality rates were half or less than half the incidence and increased slightly in some areas, which is easily explained by changes in classification, coding and diagnosis over time, as well as instability of rates due to small numbers. Survival, in particular comparing data from the 1950s and 1960s with those from the late 1980s, has improved slightly. However, these observations must be interpreted with caution inasmuch as according to the ICD, STS are classified both with specified organs and with the connective tissue. In view of the Danish experience, this fact alone may account for recorded differences in incidence (and thus mortality) of 1 and 4 cases per 100,000 per year. No major risk factor has been clearly identified for soft tissue sarcoma, although genetic traits and certain environmental agents such as ionizing radiation and agricultural chemicals seem to be involved in some cases. The recent rise in AIDS related Kaposi's sarcoma indicates the importance of further studies into the role of infectious agents and immunological mechanisms. Future trends in soft tissue sarcoma should be studied after separating these tumours into Kaposi's sarcoma and other relevant aetiological subgroups.

Adolescent↗
PubMed1995

p16INK4A and p15INK4B gene deletions in primary leukemias.

The 9p21 locus has been deleted at a high frequency in a wide variety of tumors. Recently, two genes, p16INK4A and p15INK4B (also called MTS1 and MTS2), have been localized in close proximity at the 9p21 locus, encoding cyclin-dependent kinases 4/6 inhibitors of relative molecular mass 16 kD and 15 kD, respectively and also found to be deleted at a high frequency in tumor cell lines. We analyzed p16INK4A and p15INK4B genes in 178 cases of primary leukemias including 81 cases of chronic lymphocytic leukemia (CLL), seven of hairy cell leukemia (HCL), seven of chronic myelogenous leukemia (CML), 43 of acute myelogenous leukemia (AML), 27 of acute lymphoblastic leukemia (ALL), and 13 of myelodysplastic syndrome (MDS) by Southern blot analyses. The ALL cases showed a relatively high frequency of homozygous deletions (22%, 6 of 27) at the p16INK4A gene locus. Interestingly, of the six cases with p16INK4A homozygous deletions, only three showed homozygous deletions at the p15INK4B gene. In 81 CLL patients, we detected one homozygous and five heterozygous deletions at both the p16INK4A and p15INK4B genes and two heterozygous deletions at the p16INK4A gene alone. Deletion of these two genes in AML cases is relatively low (9%). We did not detect deletions in any of the MDS, HCL, and CML cases examined. Sequence analyses of p16INK4A gene of six CLL cases with heterozygous deletion at this locus showed a 27-bp deletion at the splice acceptor site of intron 1 in one case and changes in the coding sequence in three other cases. The data presented in this report showed that (1) p16INK4A and p15INK4B genes are preferentially deleted homozygously in ALL and heterozygously in CLL cases with frequent mutation in the second allele, and (2) p16INK4A gene appears to be more frequently deleted than p15INK4B gene.

Base Sequence↗
PubMed1994

[Expression of a gene fragment from the alpha-subunit of the acetylcholine receptor from Torpedo californica in Saccharomyces cerevisiae].

A fragment of the AChR alpha-subunit gene from Torpedo californica (about 800 bp) was joined in frame with a synthetic duplex, coding for a changed leader peptide of the Kluyveromyces lactis killer toxin under the control of the reconstructed glyceraldehyde-3-phosphate dehydrogenase gene promoter in the pUC8 vector. Translation termination codons in all frames were inserted as a part of a self-complementary oligodeoxynucleotide to the Eco47III site (807 bp from the start of the gene). Vector pJDAch was constructed by cloning the expression cassette between the BamHI and HindIII sites in the multicopy yeast plasmid pJDB207. Yeast cells harbouring the pJDAch vector produced mainly an N-glycosylated fragment of the acetylcholine receptor alpha-subunit, detected by means of [125I]-alpha-bungarotoxin. The fragment's location in the membrane fraction after disruption of the yeast cells simplified its isolation.

Amino Acid Sequence↗
PubMed1993

Identification of CYP2C23 expressed in rat kidney as an arachidonic acid epoxygenase.

A cDNA was isolated from a rat kidney cDNA library using mixed probes of CYP (cytochrome P450) 2C6, 2C7, 2C8, 2C9 and 2C18 cDNAs. The 3'-terminal and 5'-terminal regions of the cDNA were sequenced and were identical with those of cytochrome P450 2C23 (CYP2C23) except for a one-base deletion and a one-base addition in coding region. These changes caused a frame shift and changed the deduced amino acid sequence relative to the previously published sequence. This cDNA was expressed using a baculovirus expression system, and the resultant P450 had a lambda max of 450 nm when reduced and complexed with carbon monoxide. Specific content of the expressed P450 ranged from 0.27 to 0.43 nmol/mg of cell lysate protein. Arachidonic acid metabolism catalyzed by expressed CYP2C23 indicated that CYP2C23 efficiently produced epoxyeicosatrienoic acids (EETs). These EETs were characterized further by gas-liquid chromatography/negative ion chemical ionization mass spectrometry (GC/NCIMS) and were found to include 8,9-EET, 11,12-EET and 14,15-EET in a ratio of 1:2:1. No 5,6-EET was detected. A low rate of lauric acid hydroxylation at the (omega-1)-position was found, but the enzyme was unable to metabolize prostaglandin E1. These studies suggest that CYP2C23 is responsible, in part, for the production of EETs in rat kidney.

Alprostadil↗