Association of the heterozygous germline I171V mutation of the NBS1 gene with childhood acute lymphoblastic leukemia.
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Adolescent↗
Biomedical subjects
J Nowak
Publications and source records attributed to J Nowak.
Burkholderia phytofirmans sp. nov., a novel plant-associated bacterium with plant-beneficial properties.
A Gram-negative, non-sporulating, rod-shaped, motile bacterium, with a single polar flagellum, designated strain PsJN(T), was isolated from surface-sterilized onion roots. This isolate proved to be a highly effective plant-beneficial bacterium, and was able to establish rhizosphere and endophytic populations associated with various plants. Seven related strains were recovered from Dutch soils. Based on 16S rRNA gene sequence data, strain PsJN(T) and the Dutch strains were identified as representing a member of the genus Burkholderia, as they were closely related to Burkholderia fungorum (98.7 %) and Burkholderia phenazinium (98.5 %). Analysis of whole-cell protein profiles and DNA-DNA hybridization experiments confirmed that all eight strains belonged to a single species. Strain PsJN(T) had a DNA G+C content of 61.0 mol%. Only low levels of DNA-DNA hybridization to closely related species were found. Qualitative and quantitative differences in fatty acid composition between strain PsJN(T) and closely related species were identified. The predominant fatty acids in strain PsJN(T) were 16 : 0, 18 : 1omega7c and summed feature 3 (comprising 16 : 1omega7c and/or iso-15 : 0 2-OH). Isolate PsJN(T) showed high 1-aminocyclopropane-1-carboxylate deaminase activity and is therefore able to lower the ethylene level in a developing or stressed plant. Production of the quorum-sensing signal compound 3-hydroxy-C8-homoserine lactone was detected. Based on the results of this polyphasic taxonomic study, strain PsJN(T) and the seven Dutch isolates are considered to represent a single, novel species, for which the name Burkholderia phytofirmans sp. nov. is proposed. The type strain is strain PsJN(T) (=LMG 22146(T) = CCUG 49060(T)).
4-Butyrolactone↗
Reliability of HLA-Cw data collected in unrelated bone marrow registry and their usefulness for preliminary donor selection.
In the present study, we addressed the question of how often HLA-DRB1-matched donors can be found by further typing of AB-matched donors and whether Cw preselection can be helpful. Sixty-eight patients and 174 donors were enrolled in the study. In all donors, confirmatory DNA Cw typing was performed to check reliability of registry Cw data. Among the 129 Cw serologically typed donors, 11 (8.5%) were not confirmed by DNA typing and for 77 (60%) at least one Cw blank antigen was genetically confirmed. In healthy controls, haplotype frequency higher than 1% has been found for 21 (55%) out of 38 Cw-DRB1 haplotypes observed. A subtotal delta made up 67% of subtotal haplotype frequency fraction of 21 haplotypes confirming strong linkage disequilibrium of Cw-DRB1 loci. After Cw preselection 12 (15.4%) out of 78 donors were matched in both DRB1. On the other hand, only two (2.1%) out of 96 AB-matched donors with unknown or incompatible Cw were matched in both DRB1 at low-resolution level (OR = 8.55; P = 0.0060; 95%CI 1.85-39.5). We found at least one DRB1-matched donor for 12 (26.1%) out of 46 patients with Cw-matched donors for which 1-5 (median = 1) of Cw-preselected donors were chosen for further typing. Cw preselection of HLA AB-matched donors for further DRB1 typing may improve the efficacy of stem cell donor search process.
Donor Selection↗
Assignment of the tumor protein p53 induced nuclear protein 2 (TP53INP2) gene to human chromosome band 20q11.2 by in situ hybridization.
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Chromosome Mapping↗
Prognostic risk factors in patients with interstitial lung disease referred for lung transplantation.
The aim of the study was to identify prognostic factors that would differentiate patients with interstitial lung disease between those with and without a chance to survive until lung transplantation. A retrospective study was performed in patients with interstitial lung disease referred for lung transplantation between September 1999 and April 2005. The analysis included the demographic data, the time from referral to transplantation, the functional tests (FVC, FEV1, FEV1%VC, the PaO(2) at rest and after oxygen supplementation via a nasal catheter), the count of NYHA functional classes, the left ventricular ejection fraction (EF), the distance covered during a 6-min walk test, and the pathogens in the respiratory tract. The patients were divided into two groups: Group 1 - lung transplant candidates who survived until the successful procedure and Group 2 - lung transplant candidates who died while on the waiting list. There were statistical differences between the two groups in PaO2 after supplementation (P=0.005), EF (P=0.002), and the 6-min walk distance (P=0.001). It appears that simple functional tests of the cardiorespiratory system may define survival of patients with interstitial lung disease waiting for lung transplantation.
Adult↗
Left ventricular isovolumic velocity and duration variables calculated from colour-coded myocardial velocity images in normal individuals.
AIMS: To describe the normal myocardial velocity profile during the isovolumic contraction and relaxation period at four different locations within left ventricular base and to establish normal age and gender related isovolumic time and velocity values. METHODS AND RESULTS: In 49 healthy individuals (26 women/23 men) in age groups 21-49 and 50-76 years, tissue velocity profiles and 2D-data were acquired at high temporal resolution (90-147 frames/s) for a subsequent off-line analysis using software enabling retrieval of myocardial Doppler velocity and 2D/anatomical M-mode information from different cardiac locations during the same cardiac cycle. The obtained velocity curves during the isovolumic contraction and relaxation period were usually biphasic and displayed clear regional differences in their respective positive and negative maximal velocities. Besides some gender related differences, mainly in the duration of the positive and negative velocity wave components during the isovolumic contraction period, a clear age-dependent increase in the duration of the isovolumic relaxation phase and its negative and positive velocity components was observed. CONCLUSION: Modern tissue Doppler imaging supplemented by anatomical M-mode images of the mitral and aortic valve movements allows a proper analysis of the rapid isovolumic myocardial movements. The presented normal isovolumic time and velocity values may prove useful for studies of myocardial function.
Adult↗
Relation between the elastic properties and intima-media thickness of the common carotid artery.
The purpose of the study was to describe the relation between wall elasticity and intima-media thickness in the human carotid artery prior to the development of atherosclerotic plaques. Fifty-eight apparently healthy men, aged 42-65 years (mean 55 years), without symptoms of cardiovascular disease were studied. Thickness and elastic properties of the common carotid artery wall were assessed using ultrasonography and non-invasive arterial pressure measurements. The relation between the calculated intima-media area and the pressure strain elastic modulus was positive and statistically significant on the right but not on the left side. No statistically significant relations were found between the calculated intima-media area and the stiffness or between the intima-media thickness and the elastic modulus or stiffness on either side. Thus, the relations between the common carotid artery intima-media thickness/calculated intima-media area and the common carotid artery elastic modulus/stiffness are weak. In regions without atherosclerotic plaques, the elastic properties of the human carotid artery wall do not seem to be influenced by the wall thickness in an important way.
Adult↗
Transmission of HCV infection among long-term hospitalized onco-haematological patients.
Hepatitis C virus (HCV) infection is becoming a substantial problem in long-term hospitalized patients. Onco-haematological patients undergoing chemotherapy are especially prone to HCV infection. These patients are usually immunosuppressed and therefore antibodies to HCV are not produced despite the presence of HCV RNA in peripheral blood. The aim of the study was to see how often long-term hospitalized patients acquired HCV infection, and what were the possible sources and routes of virus transmission. The study involved 129 children with lymphoproliferative diseases, 36 patients with solid tumours, and 61 healthcare workers from onco-haematological wards. All were HCV RNA and anti-HCV negative at the time of first hospitalization. During a two and a half-year follow-up study among 165 onco-haematological patients, HCV RNA appeared in 87 in subsequent hospitalizations. The majority of infections were (82/87) were 1a genotype, 2 were 1b, 1 was 1a + 1b and 1 was 1a + 3a. In an attempt to establish the origin of HCV infection, healthcare workers were screened for HCV genotyping. All HCV-infected staff working on wards had the same genotype (1a). None of the staff was infected with 1b genotype. As the most prevalent genotype in Polish blood donors is 1b, HCV infection in onco-haematological patients is most likely due to horizontal transmission, probably involving genotype 1a, and potential horizontal transmission of HCV is implied by the presence of 1a genotype of HCV in saliva and urine of selected patients. Spread of hospital HCV infection among children may be facilitated by micro-injury of the skin and mucosa. Early detection of HCV RNA is important in such immunosuppressed patients, as they are not able to produce anti-HCV antibodies. This may enable the introduction of prophylactic steps to prevent the spread of HCV infection by horizontal transmission.
Adolescent↗
Influence of various concentrations of selenic acid (IV) on the activity of soil enzymes.
The aim of this experiment was the assessment of the influence of various concentrations of H2SeO3 (0.05, 0.5 and 5 mM) on the activity of soil enzymes over 112 days. The lab experiment was performed using soil samples (dust-silt black soil of 1.92% organic C content, pH 7.7), 60% maximal water capacity. The soil samples were treated with a selenic acid water solution at the concentrations mentioned above. As a reference, natural soil was used (without the selenic acid). The activity of the following enzymes was tested: beta-glucosidase, nitrate reductase, urease, dehydrogenase, acid and alkaline phosphatases. The soil was sampled at days 0, 1, 3, 7, 14, 28, 56 and 112. The results of the study have shown that the selenic acid had no effect on the activity of the beta-glucosidase in soil. In the course of the whole experiment, the applied selenic acid inhibited activity of the nitrate reductase up to 70% at 5 mM, and the activity of dehydrogenase was also decreased--by up to 85% at 5 mM, similarly to urease (with the exception of days 14 and 28), and acid phosphatase (until day 56). The activity of alkaline phosphatase was increased by the lowest concentration of selenic acid and decreased by the highest, which was found in the course of the whole experiment. The 5-mM concentration of selenic acid inhibited the activity of all the enzymes tested in this experiment.
Biomass↗
Diagnostic performance of duplex ultrasonography in the detection of high grade internal carotid artery stenosis.
OBJECTIVES: to establish on a national basis whether the diagnostic accuracy of carotid duplex justifies carotid surgery without preoperative angiography. DESIGN: prospective national multicentre study with 10 participating university and county hospitals. MATERIAL AND METHODS: one hundred and thirty-four patients, aged 69+/-9 years, were subjected to routine carotid duplex ultrasonography and angiography. The influence of relevant factors on the relation between ultrasonographic and angiographic variables was evaluated using multiple regression analysis. The capacity of carotid ultrasonography to detect internal carotid artery (ICA) stenosis > or =80% was assessed by receiver operating characteristic analysis. RESULTS: the correlation between peak systolic velocity in ICA (PSV(ICA)) and the angiographic degree of stenosis was strong and significantly influenced only by the applied Doppler angle. Accordingly, the optimal PSV(ICA) cutpoint values for the diagnosis of ICA stenosis > or =80% (ECST method) differed substantially (2.1 and 3.2 m/s) between the two considered angle ranges (0-49 degrees and 50-62 degrees ), the ability to identify high grade ICA stenosis being significantly better at small Doppler angles (0-49 degrees ). CONCLUSION: ultrasonographic duplex technique identifies high grade ICA stenosis with a high degree of accuracy, which can be further improved by the application of small Doppler angles and the use of angle range specific PSV(ICA) cut-off points.
Aged↗
Analysis of temporal requirements for myocardial tissue velocity imaging.
AIMS: Movements of myocardial walls include components of high velocity and short duration calling for a high sampling rate in the acquisition of tissue velocity imaging data. This study aims at establishing the optimal sampling requirements for tissue velocity imaging measurements. METHODS AND RESULTS: In 16 healthy individuals, tissue velocity imaging data were acquired at a frame rate of 141-203 frames/s for a subsequent off-line analysis using software enabling a reduction of the sampling rate to 50%, 25% and 12.5% of the initial frame rate. Different components of the myocardial velocity profile were measured at each of these frame rates. The deviation of the results from the initial values increased markedly at decreasing frame rates, producing an underestimation of peak systolic and diastolic velocities, most other measured parameters being overestimated. A cut-off point for an acceptable < or =10% deviation of the results corresponded to at least 70 frames/s for peak systolic and early diastolic velocity, and to at least 100 frames/s for other systolic and diastolic parameters. CONCLUSION: A high sampling rate is essential for a proper rendering of tissue velocity imaging signals, too low frame rates resulting in inferior accuracy of the results. This should be kept in mind while viewing reported tissue velocity imaging data.
Adolescent↗
Assignment of tumor protein p53 induced nuclear protein 1 (TP53INP1) gene to human chromosome band 8q22 by in situ hybridization.
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Chromosome Banding↗
Good reduction of paresthesia and pain after excision of excessive callus formation in patients with malunited clavicular fractures.
BACKGROUND AND AIMS: Sequelae following non-surgical treatment of clavicular fractures are not uncommon. The aim with this study was to describe results after excision of excessive callus in patients with late onset of paresthesia/numbness. MATERIAL AND METHODS: Eight patients with hypertrophic callus after a malunited clavicular fracture were operated with removal of excessive callus and scar tissue, without stabilizing ostheosynthesis. The reason for surgery was paresthesia/numbness in the arm and hand. There was a delay between trauma and onset of symptoms on average 10 (6-18) months. Neurophysiology prior to surgery was normal in the patients tested. The mean age at trauma was 29 years and the mean time between trauma and operation was 66 months. A prerequisite for surgery was symptoms without recovery for at least 6 months. RESULTS: At follow-up on average 20 months after surgery the paresthesia/numbness, pain at rest, pain during activity, headache and dizziness were significantly reduced or even gone in all patients. The improvement occurred almost immediately after surgery with no signs of recurrence during follow-up. CONCLUSION: Removal of excessive callus and scar tissue after a malunited clavicular fracture can reduce or fully relieve disabling paresthesia and pain even if surgery is done several years after the fracture. Neurophysiological examination is normal due to lack of permanent neurologic damage and can not be used to confirm the symptoms.
Adult↗
[Unbroken continuity of patient care in shoulder pain. Same initial care in primary health services as in hospitals].
Thirty percent of all patients that consult their primary care physicians for pain in their musculoskeletal systems have pain in the neck/shoulder region, while 23% have lower back pain. Of major concern in Sweden is a patient's lengthy waiting period before seeing a specialist, with a resultant delay in treatment. A multidisciplinary group of physicians and physical therapists has therefore been working on and refining a system of tools to provide an "unbroken chain of care" for the diagnosis and treatment of patients with shoulder pathology. An unbroken chain of care enables the clinician regardless of specialty to provide the highest level of care to all patients with the same initial diagnostic and treatment parameters. Axelina is the tool that provides all the standardized treatment algorithms, rehabilitation plans and detailed home exercises. Axelina also contains a two-day instructional package with case studies presented on video.
Continuity of Patient Care↗
Levormeloxifene prevents increased bone turnover and vertebral bone loss following ovariectomy in cynomolgus monkeys.
Levormeloxifene, a nonsteroidal selective estrogen receptor modulator (SERM), has been evaluated for its effects on bone in cynomolgus monkeys (Macaca fascicularis). Adult female monkeys were imported from Indonesia and randomized into six groups of 25-28 animals each (n = 158). Animals in one group were sham ovariectomized (sham) and received vehicle. Animals in the remaining five groups were ovariectomized and received either vehicle (ovx); 17beta-estradiol at 0.016 mg/kg (est); or levormeloxifene at 0.5 (L1), 1 (L2), or 5 (L3) mg/kg. Lumbar spine and whole body bone mass were measured by dual-energy X-ray absorptiometry (DXA) pretreatment and at 6 and 12 months following the initiation of treatment. Bone mass at the femoral neck was measured by peripheral quantitative computed tomography (pQCT) at 0 and 12 months. Serum markers of bone turnover, including bone-specific alkaline phosphatase (BSAP), osteocalcin (BGP), tartrate-resistant acid phosphatase (TRAP), and urinary collagen C-terminal extension peptides (CrossLaps), were measured at 0, 6, and 12 months. Ovariectomy resulted in an increase in these markers; the increase was prevented by estradiol or levormeloxifene. Estradiol or levormeloxifene inhibited loss of lumbar spine bone mineral density (BMD) following ovariectomy compared with untreated monkeys (ovx -5.0%; sham -0.4%; est +0.2%; L1 -3.6%, L2 -2.0%, L3 -2.5%). Estradiol, but not levormeloxifene, prevented loss of BMD at the femoral neck (ovx -7.4%; sham -3.1%; est -3.6%; L1 -8.0%, L2 -6.5%, L3 -7.8%), and whole body bone mineral content (BMC) (ovx -7.6%; sham -1.9%, est -2.9%; L1 -6.2%, L2 -6.1%, L3 -6.7%). Bone loss at each site was correlated with bone turnover as measured by serum and urine biomarkers. There was no dose effect of levormeloxifene.
Animals↗
Do growth hormone-releasing peptides act as ghrelin secretagogues?
NN703 is an orally active and selective growth hormone secretagogue (GHS) that was derived from growth hormone-releasing peptide-1(GHRP-1) via ipamorelin by a peptidomimetic approach and has now entered into phase II clinical trials. When the disposition in rats of NN703 and GHRP-6 was studied using whole-body autoradiography following administration of an iv dose of radiolabeled material, we found that a substantial amount of these secretagogues accumulate in the glandular part of the stomach. Because this is the site of synthesis and secretion of ghrelin, the endogenous GHS, we investigated the effect of resection of the gastrointestinal (GI) tract on growth hormone (GH) release induced by GHRP-6. This procedure significantly attenuated the GH secretion response by 60-70%. By contrast, the effect of GH-releasing hormone on GH release was not inhibited. The binding of GHRPs to the glandular part of the stomach and the blunted GH response to GHRP-6 following resection of the GI tract suggest a role for ghrelin as a mediator of part of the GH-releasing effect of GHRPs.
Animals↗
Unexplainable nondermatomal somatosensory deficits in patients with chronic nonmalignant pain in the context of litigation/compensation: a role for involvement of central factors?
OBJECTIVE: To address the prevalence and characteristics of nondermatomal somatosensory deficits (NDSD) in subjects with chronic pain in the context of compensation/litigation. METHODS: Data were collected via standardized history, examination, and patient- as well as physician-drawn body maps in a consecutive series of 194 subjects seen for the purpose of an independent medical examination. RESULTS: Forty-nine subjects (25.3%) with primarily widespread pain (often diagnosed as fibromyalgia) presented with hemisensory or quadrotomal deficits to pinprick and other cutaneous stimuli on the side of lateralized pain or worse pain. The NDSD limbs often had impairment of vibration sense (not infrequently associated with "forehead vibration split"), reduced strength, dexterity or movement, and extreme sensitivity to superficial skin palpation or profound insensitivity to deep pain. Spatial, temporal, qualitative, and evolutionary patterns of NDSD emerged associated with cognitive/affective symptoms. NDSD subjects were more often born outside Canada, more likely to be injured at work, present with abnormal pain behavior, and have negative investigations. CONCLUSION: NDSD are a prevalent problem associated with chronic pain. Future research should explore the prevalence of NDSD in other pain populations, the role of personality and related factors, and the underlying biological substrate of these deficits.
Adolescent↗
[Effects of L-thyroxine suppressive therapy on cardiac mass in patients with differentiated thyroid cancer].
Patients with differentiated thyroid carcinoma (DTC) receive a life time l-thyroxine therapy in suppressive doses and may exhibit signs of cardiac hypertrophy. The aim of the study was to analyze the left ventricle mass parameters by echocardiography in patients treated with suppressive doses of thyroxine and to relate them to the possible occurrence of cardiac arrhythmias. Ninety four patients aged 19-70 years treated chronically with l-thyroxine were randomly chosen from the population of patients with DTC without concomitant diseases of circulatory system. They were divided into two subgroups according to the length of thyroxine therapy (< 60 months and > or = 60 months). Control group consisted of 41 healthy volunteers, aged 22-73 years. Heart muscle dimensions were measured by echocardiography. Left ventricle mass (LVM) and mass index (LVMI) was calculated. Electrocardiography according to Holter was carried out in 57 patients. The results of echocardiography in the whole group of patients did not differ significantly from the control group, although a tendency towards higher dimensions of the left ventricle was observed. No correlation of hormonal parameters, or thyroxine dose, with LVM or results of Holters ecg was noted. When patients were subdivided into two groups, according to the duration of therapy, significantly higher values of LVM (215 +/- 64 g versus 186 +/- 55; p < 0.05) and LVMI (114 +/- 31 g/m versus 102 +/- 23 g/m; p < 0.05) were observed in patients treated > or = 60 months in comparison to the control group. When results of Holter's ecg in patients with increased LVMI were analyzed, cardiac rhythm disturbances were stated in 50% of them, but most were of minor clinical relevance. Suppressive l-thyroxine therapy does not induce significant left heart hypertrophy during the first 5 years of treatment. Patients treated through a longer period of time should be controlled by echocardiography because of the increasing risk of the left ventricle hypertrophy and arrhythmia.
Adult↗