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PubMed1984

Nucleotide sequence of human rotavirus genome segment 10, an RNA encoding a glycosylated virus protein.

The complete nucleotide sequence of human rotavirus (Wa strain) genome segment 10 was determined by using a cloned DNA copy. The sequence data indicated that segment 10 is A + T rich (65%) and consists of 750 base pairs. The positive strand of segment 10 contains a single open reading frame that extends 175 codons from the first AUG triplet (residues 42 through 44). The amino acid sequence of the segment 10 product was deduced from the nucleotide sequence. There are two distinct glycosylation sites at the N-terminal hydrophobic region, consistent with previous findings that this protein exists in a glycosylated form. The apparent molecular weight (20,000) of the unglycosylated, precursor polypeptide is in good agreement with the one calculated from the predicted amino acid sequence. Structural analysis of the positive strand (mRNA from segment 10) showed that it could form, like mRNA from segment 11, a stable panhandle structure involving the 5' and 3'-terminal regions. The nucleotide sequence of segment 10 from simian rotavirus, recently determined by Both et al. (J. Virol. 48:335-339, 1983) was found to be highly homologous to, and to share several important features with, segment 10 of human rotavirus.

Amino Acid Sequence↗
PubMed1990

Increased virulence of a mouse-adapted variant of influenza A/FM/1/47 virus is controlled by mutations in genome segments 4, 5, 7, and 8.

To cause disease, influenza virus must possess several genetically determined abilities that mediate stages in pathogenesis. The virulent mouse-adapted variant A/FM/1/47-MA (FM-MA), derived from the avirulent A/FM/1/47 (FM) strain, had acquired mutations in genes that control virulence. The purpose of this study was to identify those genes that had mutated to result in increased virulence and to obtain viruses that differed in virulence because of differences in individual genome segments. The genes that had mutated to increase virulence were initially identified by genetic analysis of reassortants obtained by crossing FM-MA with the avirulent strain A/HK/1/68 (HK). FM-MA genome segments 4, 5, 7, and 8 were significantly associated with virulence, as determined by using the Wilcoxon ranked sum analysis. The role of FM-MA segments 4, 7, and 8 was confirmed by reintroduction of these genes into the parental strain, which also provided virus strains that differed in virulence because of mutations in individual genome segments. Segments 4, 7, and 8 were responsible for a 10(3.6)-fold increase in virulence that was proportioned 10(2.2)-, 10(0.7)-, and 10(0.8)-fold, respectively. The role of segment 5 could not be confirmed on transfer back into the parental strain because of reversion during preparation of such reassortants. The incidence of reversion was shown to be significantly associated with culturing of FM-MA in chicken embryo cells but was not associated with growth in MDCK cells. The genetic analysis of FM-MA suggests that adaptation to increased virulence is an incremental process that involves the acquisition of mutations in multiple genes, each of which plays an individual role in pathogenesis. The structural and functional properties of segments 4, 7, and 8 that control the virulence of FM-MA can now be determined by using viruses that differ in virulence because of mutations in these individual genome segments.

Animals↗
PubMed2002

Sequential partially overlapping gene arrangement in the tricistronic S1 genome segments of avian reovirus and Nelson Bay reovirus: implications for translation initiation.

Previous studies of the avian reovirus strain S1133 (ARV-S1133) S1 genome segment revealed that the open reading frame (ORF) encoding the final sigmaC viral cell attachment protein initiates over 600 nucleotides distal from the 5' end of the S1 mRNA and is preceded by two predicted small nonoverlapping ORFs. To more clearly define the translational properties of this unusual polycistronic RNA, we pursued a comparative analysis of the S1 genome segment of the related Nelson Bay reovirus (NBV). Sequence analysis indicated that the 3'-proximal ORF present on the NBV S1 genome segment also encodes a final sigmaC homolog, as evidenced by the presence of an extended N-terminal heptad repeat characteristic of the coiled-coil region common to the cell attachment proteins of reoviruses. Most importantly, the NBV S1 genome segment contains two conserved ORFs upstream of the final sigmaC coding region that are extended relative to the predicted ORFs of ARV-S1133 and are arranged in a sequential, partially overlapping fashion. Sequence analysis of the S1 genome segments of two additional strains of ARV indicated a similar overlapping tricistronic gene arrangement as predicted for the NBV S1 genome segment. Expression analysis of the ARV S1 genome segment indicated that all three ORFs are functional in vitro and in virus-infected cells. In addition to the previously described p10 and final sigmaC gene products, the S1 genome segment encodes from the central ORF a 17-kDa basic protein (p17) of no known function. Optimizing the translation start site of the ARV p10 ORF lead to an approximately 15-fold increase in p10 expression with little or no effect on translation of the downstream final sigmaC ORF. These results suggest that translation initiation complexes can bypass over 600 nucleotides and two functional overlapping upstream ORFs in order to access the distal final sigmaC start site.

Amino Acid Sequence↗
PubMed2005

Mutational analyses of the nonconserved sequences in the Bunyamwera Orthobunyavirus S segment untranslated regions.

Bunyamwera virus (BUNV) is the prototype of the genus Orthobunyavirus and the family Bunyaviridae. BUNV has a tripartite genome of negative-sense RNA composed of small (S), medium (M), and large (L) segments. Partially complementary untranslated regions (UTRs) flank the coding region of each segment. The terminal 11 nucleotides of these UTRs are conserved between the three segments and throughout the genus, while the internal regions are unique to each segment and largely nonconserved between different viruses. To investigate the functions of the UTR sequences, we constructed a series of BUNV S segment cDNA clones with deletions in the 3' and/or 5' UTR and then attempted to rescue these segments into recombinant viruses. We found that the genomic 5' UTR was much more sensitive to mutation than the 3' UTR and, in general, sequences proximal to the termini were more important than those flanking the coding region. Northern blot analyses of infected-cell RNA showed that the internal, nonconserved sequences of the S segment 3' UTR play a role in the regulation of transcription and replication and the balance between these two processes. In contrast, deletions in the 5' UTR caused attenuation of the recombinant virus but did not specifically affect levels of S segment RNAs or the encoded nucleocapsid protein. Thus, the internal regions of both UTRs are functional: most of the 5' UTR is essential to viral growth, and, while nonessential, the internal 3' UTR is important to the regulation of viral RNA synthesis.

3' Untranslated Regions↗
PubMed1981

Three segments from the monkey genome that hybridize to simian virus 40 have common structural elements.

Three cloned segments that hybridize to a region of simian virus 40 (SV40) deoxyribonucleic acid including the origin of replication have been isolated from a monkey genomic library. The primary structure of one segment was previously reported (T. McCutchan and M. Singer, Proc. Natl. Acad. Sci. U.S.A. 78:95-99, 1981). We report here the sequences of the other two segments and a comparison of all three. The SV 40-hybridizing region in each segment is limited to several hundred base pairs. All of the segments contain multiple and disconnected sequences homologous to the region of SV40 directly surrounding the viral replication origin. The number and arrangement of the homologous sequences is different in the three segments. However, the segments have the following features in common: (i) each contains multiple copies of the sequence GGGCGGPuPu, which also appears six times near the origin of SV40; (ii) each contains several strong homologies to the central dyad symmetry of SV40; (iii) each contains a long internal repeat, as does the origin region of SV40. The three SV40-hybridizing segments are members of a larger family of genomic sequences that hybridize well to each other, but not necessarily to SV40.

Animals↗
PubMed1993

Prognostic significance of transient ST segment changes after coronary artery bypass surgery: a long-term (4-10 year) follow up study.

OBJECTIVE: To assess the long-term (four to 10 years) prognostic significance of transient ST segment changes on ambulatory ST segment monitoring after coronary artery bypass grafting (CABG). PATIENTS AND METHODS: 76 patients (67 men, nine women) underwent CABG between 1982 and 1984 (n = 31) and between 1987 and 1988 (n = 45) and at a mean age of 57. All underwent 48 hours of ambulatory ST segment monitoring at a mean of 19 weeks after surgery. The results were available for assessment. All general practitioners were contacted and patients' notes reviewed. Patients were contacted by telephone. Details were recorded of intervening events (acute myocardial infarction, unstable angina, need for further revascularisation, and deaths). Event free survival curves were produced for those with and without transient ST segment changes during routine postoperative ambulatory ST segment monitoring. RESULTS: During 3213 hours of monitoring after CABG, 21 (27.6%) of 76 patients had transient ST segment changes, of which 70% were silent. Over a mean 70 month follow up period, patients with such ischaemic changes were no more likely to have either an objective (myocardial infarction or cardiac death) or subjective (unstable angina or another revascularisation) event than those patients without ischaemic changes. This finding was the same in patients operated on between 1987 and 1988 and between 1982 and 1984. CONCLUSIONS: Although ambulatory ST segment monitoring is becoming increasingly popular in some countries as a routine investigation for ischaemia in various coronary subgroups, the findings of such an investigation, when performed after CABG, do not help to identify a subgroup more likely to have an adverse outcome during up to 10 years of follow up. There seems to be no reason to perform this investigation after surgery, and particularly to refer patients for reinvestigation because of the detection of predominantly silent ST segment changes of uncertain relevance.

Adult↗
PubMed2005

Accuracy of segmentation of a commercial computer-aided detection system for mammography.

PURPOSE: To assess the accuracy of segmentation in a commercially available computer-aided detection (CAD) system. MATERIALS AND METHODS: Approval for this study was obtained from the authors' institutional review board. Informed consent was not required by the board for this review, as data were stripped of patient identifiers. Two thousand twenty mammograms from 507 women were analyzed with the hardware and software of a commercial CAD system. The accuracy of the segmentation process was determined semiquantitatively and categorized as near perfect if the skin line of the breast was accurately detected, acceptable if only subcutaneous fat was excluded, or unacceptable if any breast parenchyma was excluded from consideration. The accuracy of segmentation was compared for different breast densities and film sizes by using logistic regression (P < .05). RESULTS: Overall, segmentation was near perfect or acceptable in almost 96.8% of images. However, segmentation defects were significantly more common in mammograms with heterogeneously dense breast tissue (8% unacceptable) than in those with fatty replaced (0% unacceptable), scattered (1.2% unacceptable), or extremely dense (1.8% unacceptable) breast parenchyma (P < .05). For images with unacceptable segmentation, the average percentage of breast parenchyma excluded was almost 25% (range, 5%-100%), with no significant differences among breast densities. CONCLUSION: For one commercial CAD system, segmentation was usually near perfect or acceptable but was unacceptable more than five times more frequently for mammograms of breasts with heterogeneously dense parenchyma than for those with all other breast densities. On average, one-quarter of the breast parenchyma was excluded from CAD analysis for images with unacceptable segmentation.

Adult↗
PubMed2005

Arterial blood supply to the posterior aspect of segment IV of the liver from the caudate branch: demonstration at CT after iodized oil injection.

PURPOSE: To retrospectively evaluate the arterial blood supply to the posterior aspect of segment IV of the liver with computed tomography (CT) after transcatheter arterial chemoembolization (TACE) with iodized oil through the caudate arterial branch of the liver for treatment of hepatocellular carcinoma (HCC). MATERIALS AND METHODS: Institutional review board approval and patient informed consent were not required for this retrospective study. Twenty-four patients (11 men and 13 women; mean age, 68 years) with HCC originating in the caudate lobe (n = 23) or posterior aspect of segment IV (n = 1) were selected. TACE of the caudate arterial branch was performed in all patients, including one patient with HCC in the posterior aspect of segment IV who underwent TACE of the caudate arterial branch after CT helped confirm that iodized oil was not distributed in the tumor after TACE of the medial segmental artery. The distribution of iodized oil in the posterior aspect of segment IV was analyzed with CT 1 week after TACE. The number and origin of all arteries supplying the caudate lobe and the number of arteries embolized were determined. RESULTS: Thirty-three caudate arterial branches were embolized. Twenty-nine branches were derived from the right hepatic artery and four were derived from the left hepatic artery. A single branch was seen in 17 patients, two branches were seen in five, and three branches were seen in two. Eight patients simultaneously underwent additional TACE of branches of the right hepatic artery (n = 6) or right inferior phrenic artery (n = 2). At CT, iodized oil was seen to be distributed entirely (n = 19) or partially (n = 5) in the caudate lobe. Distribution of iodized oil at the posterior aspect of segment IV was observed in 16 patients (67%), including 13 (54%) whose caudate arterial branches were derived entirely from the right hepatic artery. CONCLUSION: The results of this study suggest that the caudate arterial branch, which is mainly derived from the right hepatic artery, frequently supplies the posterior aspect of segment IV. This knowledge is important for managing HCC in the posterior aspect of segment IV by means of TACE.

Aged↗
PubMed1989

PET detection of viable tissue in myocardial segments with persistent defects at T1-201 SPECT.

To assess myocardial glucose metabolism and perfusion in 142 myocardial segments with defects seen at thallium-201 single photon emission computed tomography (SPECT), 27 studies with positron emission tomography (PET) utilizing nitrogen-13 ammonia and fluorine-18 deoxyglucose were performed in 26 patients. Myocardial infarction was defined on the basis of concordant reductions in segmental perfusion and glucose utilization; myocardial ischemia, on the basis of preservation of glucose utilization (metabolic viability) in segments with hypoperfusion at rest. Of the 142 segments analyzed, 101 had fixed defects, 31 had partially reversible defects, and ten had completely reversible defects. Preserved glucose utilization was identified in 47 (46.5%) of the segments with fixed defects and 20 (64.5%) of the segments with partially reversible defects. Of the ten segments with completely reversible defects, five (50%) were normal, and five (50%) exhibited ischemia at PET. Visual improvement in a persistent thallium defect at delayed imaging was not associated with residual glucose metabolic activity. Thus, PET can be used to detect glucose metabolic activity in a significant proportion of myocardial segments with fixed or partially redistributing defects seen at thallium SPECT, which suggests that the extent of tissue viability in patients with ischemic heart disease is underestimated at thallium scintigraphy.

Aged↗
PubMed1998

Segment 4 (the quadrate lobe): a barometer of cirrhotic liver disease at US.

PURPOSE: To evaluate the dimensions of segment 4 of the liver in patients with cirrhosis by using ultrasonography (US). MATERIALS AND METHODS: The transverse diameter of segment 4 was measured in 125 control subjects without liver disease and 167 patients with cirrhosis. The size of segment 4 was measured on oblique subcostal US scans obtained between the left wall of the gallbladder (or the main fissure after cholecystectomy) and the ascending or umbilical portion of the left portal vein at the point where it gives rise to the branch to segment 4. RESULTS: In the control subject group, the mean diameter of segment 4 was 43 mm +/- 8 (standard deviation). In the patient group, the mean diameter of segment 4 was 28 mm +/- 9. The cause or severity of cirrhosis had no influence on the size of segment 4. CONCLUSION: A decreased diameter of segment 4 may be a helpful adjunct sign of cirrhosis in the US investigation of chronic liver disease.

Adult↗
PubMed1978

Segment stroke work and metabolism depend on coronary blood flow in the pig.

We determined the mechanical and metabolic effects of graded myocardial ischemia in 23 open-chest, anesthetized pigs. By connecting the midportion of the left anterior descending artery (LAD) to the carotid artery via a constant volume, calibrated pump, we reduced the flow in the LAD to 0, 25, 50, and 75% of control rates for periods of 1 h. Flows of 100% and 150% were also examined. Using pairs of ultrasonic crystals to measure segment dimensions, we calculated segment shortening and thickening, and total and systolic stroke work in the ischemic and normally perfused segments. Blood gases, pH, and lactate and inosine balances were determined from the regional coronary venous blood. At coronary blood flows of 0, 25, 50, and 75% of normal resting flow, total segment work was 8 +/- 8, 25 +/- 4, 51 +/- 5, and 80 +/- 6% of control, respectively, while systolic segment work was -2 +/- 5, -10 +/- 5, 40 +/- 5, and 86 +/- 7% of control, respectively (means +/- SE). Thus, the decrease in total segment stroke work is proportional to the decrease in flow over the range 0-100%. However, no useful work (i.e., systolic work) is done until flow exceeds 25%. Segment shortening and thickening are significantly depressed with flows diminished by only 25%. Segmental inosine production correlates with lactate production and parallels decreased mechanical performance.

Animals↗
PubMed2004

Ammonia production and secretion by S3 proximal tubule segments from acidotic mice: role of ANG II.

ANG II has potent effects on ammonia production and secretion rates by the proximal tubule and is found in substantial concentrations in the lumen of the proximal tubule in vivo. Because our previous studies demonstrated that acid loading enhanced the stimulatory effects of ANG II on ammonia production and secretion by S2 proximal tubule segments, we examined the effect of ANG II on ammonia production and secretion by isolated, perfused S3 segments from nonacidotic control mice and acidotic mice given NH4Cl for 7 days. In the absence of ANG II, ammonia production and secretion rates were no different in S3 segments from acidotic and control mice. By contrast, when ANG II was present in the luminal perfusion solution, ammonia production and secretion rates were stimulated, in a losartan-inhibitable manner, to a greater extent in S3 segments from acidotic mice. Ammonia secretion rates in S3 segments were largely inhibited by perfusion with a low-sodium solution containing amiloride in the presence or absence of ANG II. These results demonstrated that isolated, perfused mouse S3 proximal tubule segments produce and secrete ammonia, that NH4Cl-induced acidosis does not affect the basal rates of ammonia production and secretion, and that ANG II, added to the luminal fluid, stimulates ammonia production and secretion to a greater extent in S3 segments from acidotic mice. These findings suggest that S3 segments, in the presence of ANG II, can contribute to the enhanced renal excretion that occurs with acid loading.

Acid-Base Equilibrium↗
PubMed1990

Phosphate-dependent glutaminase activity in rat renal cortical and medullary tubule segments.

To determine whether local production of ammonium by medullary renal tubule segments may contribute to medullary ammonium accumulation, we measured activities of phosphate-dependent glutaminase (PDG) in microdissected tubule segments from rat medulla and cortex. PDG activities were very low in medullary loop of Henle segments but surprisingly high in inner medullary collecting duct (IMCD). In cortex, PDG levels were highest in distal convoluted tubule and cortical thick ascending limb, but substantial levels were also found in proximal segments, as reported previously. To determine effects of acid loading and alkali loading on PDG activity, 0.28 M NH4Cl (acid) or 0.28 M NaHCO3 (alkali) was added to rats' drinking water for 7 days. PDG activities in medullary segments were not affected by acid or alkali intake. Acid intake by rats increased PDG activity in S1 and S2 proximal convoluted tubules severalfold but did not affect the other cortical segments. We conclude that medullary loop of Henle segments probably contribute relatively little to medullary ammonium accumulation because of their low activities. The high PDG activity in IMCD suggests that ammonium could be produced and secreted by this segment. However, because total tubule length of IMCD is very low compared with proximal tubules, it appears unlikely that IMCD contributes substantially to overall renal ammonium production. PDG activity is regulated only in S1 and S2 proximal tubules, consistent with the view that the proximal tubule is the major site of regulation of renal ammonium production.

Ammonium Chloride↗
PubMed1998

Carbonic anhydrase II and IV mRNA in rabbit nephron segments: stimulation during metabolic acidosis.

Carbonic anhydrase (CA) facilitates renal bicarbonate reabsorption and acid excretion. Cytosolic CA II catalyzes the buffering of intracellular hydroxyl ions by CO2, whereas membrane-bound CA IV catalyzes the dehydration of carbonic acid generated from the secretion of protons. Although CA II and IV are expressed in rabbit kidney, it is not entirely clear which segments express which isoforms. It was the purpose of this study to characterize the expression of CA II and CA IV mRNAs by specific segments of the nephron using semiquantitative reverse transcription-polymerase chain reaction (RT-PCR) and to determine the effect of chronic metabolic acidosis on CA expression by those segments. Individual nephron segments (usually 1-2 mm) were isolated by microdissection and subjected to RT-PCR. Amplification was performed simultaneously for CA IV, CA II, and malate dehydrogenase (MDH), a housekeeping gene. The intensities of the PCR products were quantitated by densitometry. CA IV mRNA was expressed by S1 and S2 proximal tubules and by outer medullary collecting duct from inner stripe (OMCDi) and outer stripe and initial inner medullary collecting duct (IMCDi). CA II mRNA was expressed by S1, S2, and S3 proximal tubules, thin descending limb, connecting segment (CNT), and all collecting duct segments. Acid loading induced CA IV mRNA expression in S1 and S2 proximal tubules and in OMCDi and IMCDi. CA II mRNA was induced by acidosis in all three proximal segments and nearly all distal segments beginning with CNT. No upregulation of MDH mRNA expression occurred. These adaptive increases in CA II and IV mRNAs are potentially important in the kidney's adaptation to chronic metabolic acidosis.

Acidosis↗
PubMed1981

Hypoxic pulmonary vasoconstriction in dogs: effects of lung segment size and oxygen tension.

Six pentobarbital-anesthetized dogs were prepared with endobronchial tubes and electromagnetic flow probes. The effects of changing inspired oxygen concentrations (FIO2 = 1, 0.21, 0.15, 0.1, 0.075, 0.05, and 0) were tested on test segments of different size corresponding to left lower lobe, left upper lobe-lingula, left lung, right lung, right lung plus left lower lobe, right lung plus left upper lobe-lingula, and whole lung. In each test the rest of the lung received oxygen. Hypoxic pulmonary vasoconstriction is demonstrated by both diversion of blood flow away from hypoxic test segments and by increased perfusion pressure. Flow diversion (FD%) decreases with the size of the hypoxic test segment (%QSN) from a maximum of 75% for very small segments to zero when the whole lung is hypoxic. FD% increases linearly as alveolar oxygen tension (PAO2) of the test segment is decreased in the range of 130--28 Torr. When mixed venous oxygen tension (PVO2) is less than 45 Torr FD% is reduced. These relationships are described by FD% = [74.99 - 0.0778 (%QSN) - 0.00661 (%QSN)2] [1.268 - 0.0096 (PAO2)] [0.47 + 0.012 (PVO2)], with r = 0.92 and standard error for prediction of 8.4%. Pulmonary perfusion pressure changes (PPH/PPN) increase with the size of the hypoxic test segments from 0 with very small segments to approximately 2.2 for the hypoxic whole lung. For all test segments PPH/PPN increases linearly with PAO2. These relationships are described by PPH/PPN = 1 + [0.0043 (%QSN) + 0.000072 (%QSN)2] [1.234 - 0.0096 (PAO2)], with r = 0.91 and standard error for prediction of 0.3 units. Responses to hypoxic pulmonary vasoconstriction in dogs are therefore shown to be predictable and continuous, and the physiological basis for action of each of the variables is discussed.

Animals↗
PubMed2003

Drawing sequences of segments in 3D: kinetic influences on arm configuration.

Complex movements are generally thought to consist of a series of simpler elements. If this is so, how does the sensorimotor system assemble the pieces? This study recorded and evaluated sequences of arm movements to various targets placed in three-dimensional (3D) space. Subjects performed sequences consisting of single, double, or triple segments with the same first target but with different second targets. The data analysis focused on the first movement segment and evaluated hand path curvature, the hand's final approach to the first target, and the whole arm postures at the beginning and end. Although some idiosyncratic differences in approach were observed, only the final arm posture depended, in a consistent way, on which particular movement was to follow as the second segment. This provided evidence for "coarticulation" of the two segments, only at the level of arm posture, and simulations revealed that this anticipatory modification improved the energetic efficiency of the second segment. Data from movements through five consecutive triple segments (i.e., 5 triangles) were assessed to determine whether kinematic constraints, such as Donders' law, apply to repetitive drawing movements. Although such constraints could prevent the accumulation of changes in arm posture, this was not observed. Instead, in most cases, the elbow was a little bit higher at the end of each triangle than at the beginning. Taken together, the results suggest that coarticulation may facilitate the joining of two segments and the efficiency of the second movement, but does not extend over the drawing of several segments.

Adult↗
PubMed1998

Comparison of S-T segment/heart rate slope with exercise thallium imaging and conventional S-T segment criteria in detecting coronary artery disease: effect of exercise level on accuracy.

The S-T segment/heart rate (ST/HR) slope has been proposed as a more accurate electrocardiographic criterion for the diagnosis of coronary artery disease, but studies comparing the diagnostic value of the ST/HR slope with exercise thallium imaging are scant. The aims of this study were to assess the diagnostic accuracy of the ST/HR slope, conventional S-T segment criteria and exercise thallium imaging in detecting coronary artery disease and to evaluate the effect of exercise level on the sensitivity and specificity of these three techniques. Ninety consecutive patients underwent treadmill testing and exercise thallium single-photon emission computed tomography (SPECT) simultaneously. All 90 patients also underwent coronary angiography within 1 month of the exercise test. We found that exercise thallium SPECT had a significantly higher diagnostic accuracy than either the ST/HT slope or conventional S-T segment criteria (thallium imaging 82%, ST/HR slope 67%, conventional S-T segment criteria 63%). The overall accuracy of the ST/HR slope was slightly but insignificantly greater than conventional S-T segment criteria (ST/HR slope 67%, conventional S-T segment criteria 63%; p = 0.639). In 50 patients with a lower exercise level, defined as not achieving 85% of their maximal predicted heart rate, the accuracy of the ST/HR slope was insignificantly greater (ST/HR slope 72%, conventional S-T segment criteria 66%; p = 0.517). In 40 patients with adequate exercise, the accuracy rate was the same (60%) for both the ST/HR slope and conventional S-T segment criteria. We conclude that exercise thallium imaging is more accurate than the ST/HR slope in diagnosing coronary artery disease and that the accuracy of the ST/HR slope is marginally better than conventional S-T segment criteria only in patients with a lower exercise level, and not in those with adequate exercise.

Cardiac Catheterization↗
PubMed2000

Segmental manifestation of Darier disease. What is the genetic background in type 1 and type 2 mosaic phenotypes?

Darier disease is an autosomal dominant disorder which may occasionally become manifest in a segmental form. Two clinical phenotypes with a different genetic background have been elaborated in recent years. More than 50 patients with isolated linear disease expression have been documented. In this phenotype the skin outside the segmental affection is absolutely normal. Such a phenotype is explained by a postzygotic mutation with somatic mosaicism which was labeled as type 1 manifestation of segmental forms in autosomal skin disorders. A patient with classical type 1 segmental Darier disease is presented. On the other hand, only 3 patients with Darier disease showing a segmental manifestation in combination with a diffuse distribution have so far been observed. These cases correspond to the recently described type 2 manifestation of segmental forms of autosomal dominant disorders. We describe a fourth patient with type 2 segmental Darier disease. The genetic explanation of such a phenotype is possible with the assumption that a germline mutation for the disease exists but, in addition, a postzygotic mutation is needed resulting in loss of heterozygosity. Hence, in a circumscribed region a homozygous or hemizygous state of the mutation is apparent which can explain the enhanced severity of the segmental manifestation.

Adult↗