PubMed Health⌕ Search

Biomedical subjects

H Kozman

Publications and source records attributed to H Kozman.

12 recordsLinked to original sources
PubMed2001

Long-term outcome following coronary stent embolization or misdeployment.

Twenty-three patients were identified as having either coronary stent embolization or misdeployment at our center over a 4-year period. They were matched to an equal number of controls who underwent a stenting procedure but in whom embolization or misdeployment did not occur. Baseline demographic characteristics were similar between the 2 groups. The embolization group required higher mean predilation pressure than the control group and more of the embolization group required a predilation pressure >10 atm before attempted stent placement (7 vs 1, p = 0.02). Total procedure and fluoroscopy time as well as dye volume were dramatically higher in the embolization group compared with the control group. Lesion angulation >45 degrees was predictive of stent embolization and 6 of 23 (23%) stents embolized during passage through a previously deployed stent. Sixteen cases of stent embolization and/or misdeployment occurred within the coronary circulation, 8 of which were retrieved, and 7 stents embolized to the central and/or peripheral circulation. A total of 23 major adverse coronary events occurred in the case group versus 7 events in the control group (p = 0.04) over a mean follow-up of 36 +/- 13 months. Fifteen of the events (65%) in the case group occurred in those 8 patients in whom the stent remained in the coronary circulation, including 3 bypass surgeries, 2 myocardial infarctions, 5 repeat percutaneous interventions, and 1 death after hospital discharge. Only 1 patient in whom the stent embolized outside the coronary circulation demonstrated possible evidence for peripheral vascular insufficiency. Intracoronary stent embolization in which the stent remains misdeployed in the coronary circulation is associated with poor long-term outcomes. Extracoronary stent embolization is associated with minimal long-term sequelae.

Case-Control Studies↗
PubMed1998

Presence of angiographic coronary collaterals predicts myocardial recovery after coronary bypass surgery in patients with severe left ventricular dysfunction.

BACKGROUND: Patients with coronary artery disease and left ventricular dysfunction (LVD) may have areas of hibernating myocardium that improve functionally after revascularization. Coronary collateral circulation may sustain ischemic, dysfunctional myocardium and favor myocardial recovery after revascularization. We evaluated the effect of angiographic coronary collaterals on myocardial functional recovery after coronary bypass graft (CABG) surgery in a group of patients with severe LVD. METHODS AND RESULTS: Forty-one patients with multivessel coronary artery disease and advanced LVD (left ventricular ejection fraction [LVEF] 25 +/- 5%) undergoing CABG were identified from a prospective database. Preoperative coronary angiograms were evaluated for collaterals, which were graded according to Rentrop's classification (0 to 3), and a collateral index was calculated (collateral sum divided by 3). Preoperative and postoperative radionuclide ventriculograms provided global LVEF and regional ejection fractions. Of 123 regions evaluated, 120 were dysfunctional at baseline. Virtually all (122 of 123) regions were subtended by an artery with > or = 70% stenosis that was bypassed. Thirty-eight (81%) of 47 dysfunctional regions with grade 2 or 3 collaterals improved regional ejection fraction after surgery versus 38 (52%) of 73 dysfunctional regions with grade 0 or 1 collaterals (P = 0.0018). Global LVEF was 34 +/- 10% after surgery (P < 0.001 versus before surgery). Among patients with a global LVEF increase > or = 10%, collateral index was 1.81 versus 0.83 in those with an LVEF increase < 10% (P = 0.005). CONCLUSIONS: In this population of patients with coronary artery disease with severe LVD, the presence of angiographic grade 2 or 3 collaterals predicted recovery of regional and global myocardial function after CABG.

Aged↗
PubMed1997

Deep venous thrombosis: prediction by D-dimer?

The utility of D-dimer as an inexpensive, noninvasive method of diagnosing deep venous thrombosis (DVT) is debated. We sought to determine whether a qualitative D-dimer assay would have a high correlation with DVT in 65 hospitalized patients who were randomly referred for diagnosis of DVT by venous duplex and duplex Doppler ultrasonography. Patients were excluded from the study if they had any inflammatory, infectious, or malignant condition associated with elevation of D-dimer. The mean level of D-dimer in patients with DVT (16 of 65 patients) was 5,141 ng/mL, compared with 3,024 ng/mL in those without DVT, but there was considerable overlap between the two groups. No patients with a D-dimer level < 2,000 ng/mL had DVT. We conclude that the qualitative D-dimer assay is an excellent exclusionary test for DVT at levels less than 2,000 ng/mL. Limitations of the D-dimer assay and cost-effective issues are discussed.

Adolescent↗
PubMed1995

Integration of transcript and genetic maps of chromosome 16 at near-1-Mb resolution: demonstration of a "hot spot" for recombination at 16p12.

A single mapping resource, a mouse/human somatic cell panel with average distance between breakpoints of 1.2 Mb and a potential resolution of 1 Mb, has been utilized to integrate the genetic map and a transcript map of human chromosome 16. This map includes 141 genetic markers and 200 genes and transcripts. The localization of four genes (CHEL3, TK2, TRG1, and MMP9) reported to map to chromosome 16 could not be confirmed, and for three of these localizations to other human chromosomes are reported. A correlation between genetic and physical distance over a region estimated to be 23 Mb on the short arm of chromosome 16 identified an interval demonstrating a greatly increased rate of recombination where, in females, 1 cM is equivalent to a physical distance of 100 kb.

Animals↗
PubMed1995

Autosomal dominant distal myopathy: linkage to chromosome 14.

We have studied a family segregating a form of autosomal dominant distal myopathy (MIM 160500) and containing nine living affected individuals. The myopathy in this family is closest in clinical phenotype to that first described by Gowers in 1902. A search for linkage was conducted using microsatellite, VNTR, and RFLP markers. In total, 92 markers on all 22 autosomes were run. Positive linkage was obtained with 14 of 15 markers tested on chromosome 14, with little indication of linkage elsewhere in the genome. Maximum two-point LOD scores of 2.60 at recombination fraction .00 were obtained for the markers MYH7 and D14S64--the family structure precludes a two-point LOD score > or = 3. Recombinations with D14S72 and D14S49 indicate that this distal myopathy locus, MPD1, should lie between these markers. A multipoint analysis assuming 100% penetrance and using the markers D14S72, D14S50, MYH7, D14S64, D14S54, and D14S49 gave a LOD score of exactly 3 at MYH7. Analysis at a penetrance of 80% gave a LOD score of 2.8 at this marker. This probable localization of a gene for distal myopathy, MPD1, on chromosome 14 should allow other investigators studying distal myopathy families to test this region for linkage in other types of the disease, to confirm linkage or to demonstrate the likely genetic heterogeneity.

Adolescent↗
PubMed1994

Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis.

X-linked reticulate pigmentary disorder (PDR), previously reported as X-linked cutaneous amyloidosis (MIM#301220), is characterized by brown pigmentation of the skin which follows the lines of Blaschko in females but appears as reticulate sheets in males. Males may suffer severe gastrointestinal disorders in infancy with failure to thrive and early death. Nowadays symptomatic treatment allows survival and other manifestations may appear such as corneal dystrophy with severe photophobia or chronic respiratory disease. Amyloid deposition in the skin may be no more than an age-dependent secondary manifestation. The PDR gene was localised by linkage analysis to Xp21-p22. The background genetic map is Xpter-DXS996-22.5-DXS207-3.3-DXS999-3.3-DXS36 5-14.2-DXS989-4.1-3'DMD-3.5- DXS997-1.0-STR44-9.3-DYSI-2.3-DXS1068-11.0-DX S228 with distances between markers given in cM. Recombinants detected with DXS999 distally and DXS228 proximally, define the limits to the localisation. Linkage was found with several markers within this interval. Peak lod scores of 3.21 at theta = 0.0 were obtained between PDR and DXS989 and between PDR and 5'DYSI within the dystrophin locus.

Amyloidosis↗
PubMed1994

A linkage map of microsatellite markers on the human X chromosome.

The efficiency of mapping and diagnosis of X-linked disorders by linkage depends upon the existence of a high-density genetic map of polymerase chain reaction (PCR)-based markers. DXS1120, DXS1122, DXS1123, DXS1124, DXS1125, DXS1126, and DXS1153 were randomly isolated from a flow-sorted lambda bacteriophage library of the human X chromosome. The CCN (N = A or G) repeat within the androgen receptor was also found to be polymorphic and primers were designed for genotyping the CCN polymorphism in addition to the AGC polymorphism. The above markers, together with microsatellite polymorphisms at DXS237 (GMGX9), 5'DYS-II and 3'DYS MS (within the dystrophin locus), DXS538 (XL27B), PGK1P1, DXS300 (VK29AC), DXS294 (VK17AC), and DXS102 (cX38.1AC), were genotyped in the 40 CEPH reference families. One marker, DXS1153, was found to include cryptic alleles that amplify only in homozygotes and hemizygotes but not heterozygotes. A PCR-based linkage map was constructed using all of the above markers plus PCR-based markers from the CEPH database and those PCR-based markers previously typed in our laboratory: ALAS2, DXS292 (VK14AC), DXS297 (VK23AC), FRAXAC1, and FRAXAC2. The genetic map of the X chromosome incorporates 62 PCR-based marker loci, integrates the Weissenbach markers, and extends from XG near Xpter to DXS52 near Xqter, a distance of 236 cM.

Alleles↗
PubMed1992

A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1.

A CA dinucleotide repeat polymorphism has been identified for the skeletal muscle alpha-actinin gene ACTN2. The observed heterozygosity is 44% (predicted heterozygosity 50%, PIC 0.47). This polymorphic marker has been localized between D1S74 and D1S103 on the multipoint linkage map of chromosome 1 at a position 44.4 cM from the most distal marker D1S68 at 1 qter.

Actinin↗
PubMed1991

Human glandular Kallikrein genes: genetic and physical mapping of the KLK1 locus using a highly polymorphic microsatellite PCR marker.

We describe a highly polymorphic microsatellite repeat sequence, KLK1 AC, which is located 3' to the human glandular kallikrein gene (KLK1) at 19q13.3-13.4. A multiplex PCR was developed to simultaneously genotype the KLK1 AC repeat length polymorphism and a similar repeat at the adjacent APOC2 locus at 19q13.2. Genotypes from these two loci in the 40 large kindred pedigrees from the Centre d'Etude du Polymorphisme Humain were used in conjunction with the background genetic map to establish a multipoint linkage map. The KLK1 locus was also localized physically using somatic cell hybrid DNA templates for polymerase chain reaction analysis. Both genetic and physical mapping studies are consistent with the assignment cen-APOC2-KLK1-D19522-qter. The linkage map places KLK1 approximately 10 cM distal to APOC2. These markers therefore flank the myotonic dystrophy gene and may be useful for diagnosis.

Alleles↗
PubMed1991

Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.

We report the genetic localisation of the fragile site at Xq27.3 associated with fragile X syndrome. The position of the fragile site within the multipoint linkage map was determined using two polymorphic microsatellite AC repeat markers FRAXAC1 and FRAXAC2. These markers were physically located within 10 kilobases and on either side of the p(CCG)n repeat responsible for the fragile site. FRAXAC1 has five alleles with heterozygosity of 44% and is in strong linkage disequilibrium with FRAXAC2 which has eight alleles and a heterozygosity of 71%. No recombination was observed either between these markers in 40 normal CEPH pedigrees or with the fragile X in affected pedigrees. These markers provide the means for accurate diagnosis of the fragile X genotype in families by rapid polymerase chain reaction analysis and were used to position the fragile X within the multipoint map of the X chromosome to a position 3.7 cM distal to DXS297 and 1.2 cM proximal to DXS296.

Base Sequence↗
PubMed1991

Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers.

We describe two highly polymorphic microsatellite AC repeat sequences, VK23AC and VK14AC, which are closely linked to the fragile X at Xq27.3. Both VK23AC (DXS297) and VK14AC (DXS292) are proximal to the fragile site. Two-point linkage analysis in 31 fragile X families gave (a) a recombination frequency of 1% (range 0.00%-4%) with a maximum lod score of 32.04 for DXS297 and (b) a recombination frequency of 7% (range of 3%-15%) with a maximum lod score of 12.87 for DXS292. Both of these polymorphisms are applicable to diagnosis by linkage in families with fragile X syndrome. A multipoint linkage map of genetic markers at Xq27.3 was constructed from genotyping these polymorphisms in the CEPH pedigrees. The DXS292 marker is in the DXS98-DXS297 interval and in 3 cM proximal to DXS297.

Alleles↗