[Contribution of hemostatic dressings in the hemostasis of arteriovenous fistula? A quality improvement program in our center]. / Évaluation de nos pratiques professionnelles : apport des pansements hémostatiques dans l'hémostase de la fistule artério-veineuse ?

INTRODUCTION: In haemodialysis patients the length of bleeding times after fistula cannulation is an easy and fairly used method of monitoring vascular access. In the most cases, compression is performed manually by nurses and the use of haemostatic dressing is common. As data in the literature are scares, we have decided to develop a quality improvement program in our hemodialysis center to manage this issue. MATERIAL AND METHODS: After informed consent, 35 hemodialysis outpatients were selected in order to study the bleeding time using haemostatic dressing or not during two weeks in a cross over schema. The dialysis schedule was unchanged and comparative analysis of parameters such as blood flow rate or anticoagulant treatment were done between the groups. RESULTS: Compression times with and without hemostatic dressing were not different (12.6 min and 12.9 min, respectively). Patients with an anticoagulation during the dialysis session greater than 0.35 IU/kg/session had a longer bleeding time (12.75 min vs 11.75 min; P=0.008). CONCLUSION: In our evaluation, the use of haemostatic dressings is not associated with a real shorter bleeding time. Their use generate an additional cost estimated on average at 164 euros/year/patient. Patients and team realized that compression time is important for fistula monitoring and using compresses does not really increase this time.

Variability in obstructive sleep apnea: Analysis of pacemaker-detected respiratory disturbances.

BACKGROUND: Obstructive sleep apnea (OSA) is associated with several cardiovascular conditions. Some pacemakers feature specific algorithms detecting respiratory cycles and deriving indices well correlated with the identification of polysomnography-confirmed severe OSA. OBJECTIVES: The purposes of this study were to analyze respiratory disturbances measured by a validated algorithm in clinical practice and to describe their variability over time and their association with atrial fibrillation. METHODS: Fifty-eight patients implanted with dual-chamber LivaNova REPLY 200 DR or KORA 100 DR pacemakers measuring a respiratory disturbance index (RDI) were included. An RDI >20 events per hour of sleep is well correlated with severe OSA as determined by polysomnography. Patients with >10% nights with invalid RDI measurements were excluded. RESULTS: The RDI could be measured during 98% of nights. During a mean follow-up of 187 ± 123 days, the individual mean RDI was 19.9 ± 12.7 and was superior to 20 in 24 patients (41%). An RDI >20 events/h in at least 1 night was observed in 52 patients (90%). The mean day-to-day RDI variability in individual patients was 19% ± 21%. Patients with the highest burden of severe OSA (as defined by ≥75% of nights with RDI >20 events/h) were older, had a higher prevalence of hypertension, and were more often implanted for atrioventricular block than patients with lower burden of severe OSA. No RDI burden or cutoff was a predictor of atrial fibrillation occurrence. CONCLUSION: OSA is frequent in patients with a pacemaker and is reliably detected by pacemakers. OSA is highly variable and could probably be best analyzed in terms of burden.

Rare primary CNS anaplastic large cell lymphoma in an immunocompetent adult: a clinical-pathologic case report and review case of the literature.

OBJECTIVE AND IMPORTANCE: Isolated anaplastic large cell lymphoma (ALCL) presenting in the primary central nervous system is distinctly uncommon. The authors describe a case that clinically and radiographically simulated a primary glial neoplasm. CLINICAL PRESENTATION: A 39-year-old immunocompetent male presented with seizures and a rapidly enlarging right occipital/parietal lesion. Magnetic resonance images demonstrated a right occipitoparietal lesion, hypodense on T1WI, with patchy contrast enhancement with gadolinium and significant white matter edema pattern on T2WI along with mass effect and midline shift. INTERVENTION: The patient underwent a frameless stereotactic assisted needle biopsy. There appeared to be a clear demarcation between white matter and tumor with no obvious necrosis. Biopsy showed a proliferation of single cells and poorly cohesive groups of cells with large, pleomorphic nuclei, many containing prominent nucleoli, and a moderate amount of cytoplasm. Immunohistochemical staining revealed CD-30 and ALK-positivity typical of ALCL, a rare form of T-cell lymphoma. An extensive workup revealed neither systemic disease nor evidence of immunocompromise. CONCLUSION: Reported in less than 20 patients, primary ALCL in an immunocompetent patient is rarely found intracranially; however, its ability to mimic glial neoplasms as well as other pathologies underlines its importance.

A new betaA1-crystallin splice junction mutation in autosomal dominant cataract.

PURPOSE: To map the locus for autosomal dominant cataracts (ADCs) in a Brazilian family using candidate gene linkage analyses, describe the clinical variability, and identify potential mutations in the human betaA1-crystallin gene (CRYBA1), a candidate gene identified through linkage studies demonstrating cosegregation with markers on chromosome 17. METHODS: Members of a Brazilian family with ADC were studied. Clinical examinations and linkage analyses with polymerase chain reaction (PCR) polymorphisms of 22 anonymous markers and 2 within the neurofibromatosis type 1 gene were performed; two-point lod scores were calculated. DNA sequences of all 6 exons and 12 exon-intron boundaries of the betaA1-crystallin gene, a proximal candidate gene mapped to 17q11.1-q12 in one unaffected and two affected individuals, were screened and new variants assessed for cosegregation with the disease. RESULTS: Affected individuals exhibited variable expressivity of pulverulent opacities in the embryonal nucleus and sutures; star-shaped, shieldlike, or radial opacities in the posterior embryonal nucleus; and/or midcortical opacities. All known loci for ADC in this family on chromosomes 1 and 13 were excluded. A positive lod score on chromosome 17 was calculated. This ADC locus was mapped to two potential regions on the long arm with an intervening recombination. The only known candidate gene in these regions was betaA1-crystallin. Three previously unreported single nucleotide variants were found in this gene, one in the donor splice junction site of intron C. This variant was found in all affected members and is presumed to be the causative mutation. CONCLUSIONS: An ADC locus was mapped in a Brazilian family with variable expressivity to either 17q23.1-23.2 or 17q11.1-12 based on linkage analyses. Analyses of DNA sequences of the betaA1-crystallin gene in this family revealed three new variants, one of which is within a donor splice junction and cosegregates with affected members.

A new locus for autosomal dominant cataract on chromosome 12q13.

PURPOSE: To map the gene for autosomal dominant cataracts (ADC) in an American white family of European descent. METHODS: Ophthalmic examinations and linkage analyses using a variety of polymorphisms were performed; two-point lod scores calculated. RESULTS: Affected individuals (14 studied) exhibited variable expressivity of embryonal nuclear opacities based on morphology, location within the lens, and density. This ADC locus to 12q13 was mapped on the basis of statistically significantly positive lod scores and no recombinations (theta(m) = theta(f) = 0) with markers D12S368, D12S270, D12S96, D12S359, D12S1586, D12S312, D12S1632, D12S90, and D12S83; assuming full penetrance, a maximum lod score of 4.73 was calculated between the disease locus and D12S90. CONCLUSIONS: The disease in this family represents the first ADC locus on chromosome 12; major intrinsic protein of lens fiber (MIP) is a candidate gene.

Pharmacokinetics of Fem7, a once-weekly, transdermal oestrogen replacement system in healthy, postmenopausal women.

This open-label, randomized study in 36 healthy postmenopausal women, investigated the pharmacokinetics of Fem7, (an oestradiol matrix-type patch), at doses of 25, 50, 75 and 100 microg/24 h, applied once weekly. Maximum plasma concentrations of oestradiol and oestrone were observed 14-20 h after patch application, remaining within the therapeutic range until removal, and returning to baseline within 12 h thereafter. Plasma oestradiol concentrations increased in a dose-dependent manner for all four doses, and plasma oestrone increased for the three highest doses. Fem7 treatment was well tolerated at all four doses and no severe adverse reactions were reported. Fem7 is a convenient and well-tolerated form of hormone-replacement therapy that delivers oestradiol in a consistent and predictable manner.

Regional mapping of the human MP70 (Cx50; connexin 50) gene by fluorescence in situ hybridization to 1q21.1.

PURPOSE: Gap junctions play a critical role in the metabolic homeostasis and maintenance of transparency of fibers within the ocular lens. As part of a long-term effort to establish the relationship between lens gap junction proteins, normal lens development, and cataractogenesis, we report here the regional localization of the human MP70 (Connexin 50) gene. METHODS: Fluorescence in situ hybridization (FISH) was used to regionally map the human MP70 gene. The DNA probe contained the entire MP70 coding region within a clone isolated from a human genomic DNA library. RESULTS: The human gene encoding the lens intrinsic membrane protein MP70 was regionally mapped to q21.1 on the long arm of chromosome 1. CONCLUSIONS: This study confirms the previous provisional assignment of MP70 to human chromosome 1 and regionally localizes the gene to 1q21.1. When combined with previous mapping information, these data are consistent with the hypothesis that a genetic lesion in the gene encoding the lens intrinsic membrane protein MP70 may be the underlying molecular defect for zonular pulverulent (Coppock) cataract. Furthermore, these combined data support the hypothesis that other forms of human hereditary cataract may be the result of a mutation in one or more of the genes encoding gap junction proteins found in the ocular lens.

Six loci mapped on to human chromosome 2p are assigned to sheep chromosome 3p.

Six loci, apoliproprotein B (including Ag(x) antigen), immunoglobulin kappa constant region (IGKC), luteinizing hormone/choriogonadotrophin receptor, avian myelocytomatosis viral related oncogene, neuroblastoma derived, ornithine decarboxylase, and proopiomelanocortin (adrenocorticotropin/beta-lipotropin) (POMC), were newly assigned to sheep chromosome 3p using a chromosomally characterized minipanel of sheep-hamster cell hybrids. Isotopic in situ hybridization of IGKC to sheep chromosome 3p22-p17 is reported, confirming the cell hybrid assignment. As these loci are all known to map to human chromosome 2p, this study demonstrates that this chromosomal segment is extensively conserved in sheep. Only POMC has been previously assigned to cattle chromosome 11, which is the equivalent of sheep chromosome 3p. Therefore, we predict that the other loci assigned in this study to sheep 3p are likely to be located on cattle 11. The provisional assignment of an additional locus, annexin-like to sheep chromosome 3p is also reported.

[Non-invasive measurement of stroke volume in steady-state and unsteady-state workload with CO2 rebreathing]. / Nichtinvasive Messung des Herzzeitvolumens während Steady-State- und Unsteady-state-Belastungen mittels CO2-Rückatmung.

During steady-state exercise the noninvasive measurement of cardiac output using CO2-rebreathing has been found to be reliable and reproducible. In contrast, reliability of cardiac output measurement during unsteady state exercise is unclear. The ability to determine cardiac output (CO) noninvasively during steady state and unsteady state exercise was assessed in nine healthy students aged 25.7 +/- 7.4 years. Two cycle ergometer exercise tests were performed, one maximal unsteady state test with 25 watts increment of workload per minute, and also one steady state test at 25, 50, and 75 percent of max. VO2. CO was measured using the equilibrium CO2-rebreathing technique during unloaded cycling in both tests, at 75 and 150 watts in the unsteady state test and at all workloads during steady state exercise. Mean max. VO2 was 31.4 +/- 5.9 ml/kg/min and mean VO2 at the anaerobic threshold 24.5 +/- 7.2 ml/kg/min, respectively. During unsteady state exercise the CO2/workload slope was linear (r = 0.973), as with steady state exercise (r = 0.976). There was no difference concerning the slopes of both curves, but the elevation of VO2 with unsteady state exercise was lower, compared to steady state (p < 0.005). The relationships of CO/VO2 during unsteady and steady state exercise were best expressed by linear equations: CO = 7.49 x VO2 + 2.35 (r = 0.866) and CO = 8.24 x VO2 + 1.4 (r = 0.852), respectively. Similar to VO2/workload, both regressions did not have different slopes, but did have different elevations (p < 0.0001).(ABSTRACT TRUNCATED AT 250 WORDS)

Mesenteric venous thrombosis: a case report.

Mesenteric venous thrombosis is an uncommon entity. The preoperative diagnosis is largely clinical; the hallmark is pain that is out of proportion to the physical findings. Treatment consists of thrombectomy with resection of necrotic small bowel and mesentery. In the absence of trauma or infection, an investigation of intrinsic anticoagulant deficiencies is warranted since these deficiencies are inherited in an autosomal dominant fashion. Treatment is warfarin sodium therapy.

The human interleukin-1 receptor antagonist (IL1RN) gene is located in the chromosome 2q14 region.

The gene for human interleukin-1 receptor antagonist (IL1RN) has been assigned to chromosome 2 on the basis of Southern blot analysis of a series of human-Chinese hamster cell hybrids. Using a yeast artificial chromosome containing the IL1RN gene as a probe, the human IL1RN gene was localized to the long arm of chromosome 2 at band 2q14.2 by fluorescence in situ hybridization. This site is near the positions of genes for human IL-1 alpha, IL-1 beta, and types I and II IL-1 receptors, as reported by other laboratories.

Chromosome mapping of biological pathways by fluorescence-activated cell sorting and cell fusion: human interferon gamma receptor as a model system.

Human chromosome 6 encodes both the interferon gamma receptor as well as the class I major histocompatibility complex antigens, HLA-A, -B, and -C. However, the presence of chromosome 6 in somatic cell hybrids is insufficient to confer sensitivity to human interferon gamma (Hu-IFN-gamma) as assayed by class I HLA induction; it is necessary for both human chromosomes 6 and 21 to reside in the hybrid to generate a response to Hu-IFN-gamma. Treatment of such a hamster-human hybrid, Q72-18, with Hu-IFN-gamma induces the class I HLA antigens. Q72-18 cells selected by fluorescence-activated cell sorting for the loss of class I HLA induction also lost human chromosome 21. Fusions of such cells to a hybrid that contains only human chromosome 21 reconstitutes HLA antigen induction by Hu-IFN-gamma. Furthermore, fusions of hybrids containing a translocated human chromosome 6q and the HLA-B7 gene to a line containing only human chromosome 21 or a translocated 21q also reconstitutes HLA-B7 mRNA and antigen induction by Hu-IFN-gamma. Thus the segregation of cells on the basis of a biological effect by fluorescence-activated cell sorting and reconstitution by hybrid fusion provides a strategy by which some biological pathways can be mapped at a chromosomal level.

MER2: a red cell polymorphism defined by monoclonal antibodies.

Two murine monoclonal antibodies, 1D12 and 2F7, apparently of the same specificity, define a new red cell polymorphism, MER2. 92% of English blood donors are MER2+ giving the gene frequencies MER2+ 0.7159; MER2- 0.2841. Family studies showed that MER2+ is inherited as a Mendelian dominant character and that MER2 is not controlled by any of the main blood group loci. The MER2 antigen is also present on some leukaemia fibroblasts and human cell lines. Using somatic cell hybrids, MER2 appears to be coded for by a gene on chromosome 11 at 11p15.

Expression of human chromosome 11-encoded cell-surface antigens by DNA-mediated transfectants.

DNA-mediated transfectants were isolated that expressed two of the cell-surface antigens encoded by human chromosome 11. These tranfectants were used to analyze monoclonal antibodies selected to recognize human cell-surface antigens expressed by a somatic cell hybrid containing 11 as its only human chromosome. Analysis of the transfectants, deletion hybrids, and mutants showed that the monoclonal antibodies recognized at least five different antigens, one of which we had not identified previously. A majority of the monoclonal antibodies recognized the a1 antigen. The use of cells from higher primates demonstrated that the a1-specific monoclonal antibodies recognize at least two epitopes.

Localization of the gene encoding 3-hydroxy-3-methylglutaryl-coenzyme A synthase to human chromosome 5.

A series of hybrids between primary human cells and a Chinese hamster somatic cell mutant (Mev-1), defective in expression of the enzyme 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) synthase [(S)-3-hydroxy-3-methylglutaryl-CoA acetoacetyl-CoA-lyase (CoA-acetylating, EC 4.1.3.5], has been prepared that complements the mutant defect. A technique based on differential sensitivity of this enzyme activity to inhibition by magnesium ion is described that allows the discrimination of expression of human and hamster HMG-CoA synthase in these hybrids. The results indicate a structural gene defect in expression of HMG-CoA synthase activity in Mev-1 cells. Segregation of human chromosomes that do not possess the complementing marker have allowed the assignment of human HMG-CoA synthase activity to chromosome 5. This is the second demonstrably transcriptionally regulated enzyme of cholesterologenesis to be assigned to chromosome 5, the other being HMG-CoA reductase.

The radiology of total hip replacement.

The radiology of total hip replacement (THR) and its complication is reviewed in conjunction with a long-term follow-up study on 402 patients with 501 prostheses. The indications, contraindications, biomechanics, and operative management of these patients is discussed. Clinical complications such as deep vein thrombosis, pulmonary embolism, and hemorrhage are mentioned. Postoperative infections including granulomatous pseudotumors, dislocations and fractures, true loosening of the prosthesis, and heterotopic bone formation (HBF) are discussed and illustrated. The importance of differentiating the lucent line from true loosening is stressed. Mechanical and other clinical complications which are largely ignored by radiologists are also discussed. The uses of arthrography and bone scanning are included.

Changes in the blink responses to combined trigeminal, acoustic and visual repetitive stimulation, studied in the human subject.

Habituation of blink reflexes as measured by amplitude decrement in the orbicularis oculi EMG was examined in 9 human subjects using combinations of repetitive electric stimuli to the bridge of the nose (trigeminal stim.), short clicks (acoustic stim.), and flashes (visual stim.). With trains of paired stimuli, both homogeneous and mixed, habituation was increased when the two stimuli were separated by 250 msec but was decreased when the interval was 30 (50) msec, as compared to single stimulus trains of identical repetition rate. Following acoustic or visual prehabituation the habituation to trigeminal stimuli was enhanced. This "transfer of habituation' was also obtained with acoustic before visual stimuli and vice versa. Regarding dishabituation, interposition of single extrastimuli, for example visual or acoustic within repeated trigeminal stimulation, was more effective than a simple pause by omitting one electric pulse. The results suggest the existence of a pool of interneurones that is that the common final relay for the blink relfex afferents from the trigeminal, acoustic and visual input.