bluuebunny/crossref_metadata_2025 huggingface dataset:
Assessment of pH and Oxygen Status during Hemodialysis Using the Arterial Blood Line in Patients with an Arteriovenous Fistula
Authors: Nielsen Anders Lassen , Thunedborg Per , Brinkenfeldt Henning , Hegbrant Jörgen , Jensen Henrik Ærenlund , Wandrup Jesper H.
Published: April 2003

Background: In patients with arteriovenous fistulas, assessment of pH and oxygen status during hemodialysis (HD) using the extracorporeal dialysis arterial blood line is widely used both in daily routine and in most studies investigating hypoxia during HD. We designed this study to evaluate whether results of blood gas samples drawn from the extracorporeal arterial line were clinically acceptable in assessing oxygen status. Methods: We compared samples drawn from the extracorporeal arterial line with conventionally arterial punctures during 18 routine HD sessions. The samples were drawn simultaneously and analyzed immediately for blood gases, pH and hemoximetry values. Results: No significant difference was found between the values from the radial artery and the extracorporeal arterial blood line except for FMetHb. Conclusion: Thus, obtaining samples from the extracorporeal dialysis arterial blood line to evaluate the parameters of the oxygen status (pH, pO2, pCO2, ctHb, sO2, FCOHb and ctO2) during routine HD is a clinically convenient and accurate sampling approach.
Evaluation of Intradialytic Solute and Fluid Kinetics
Authors: Colì L. , Ursino M. , De Pascalis A. , Brighenti C. , Dalmastri V. , La Manna G. , Isola E. , Cianciolo G. , Patrono D. , Boni P. , Stefoni S.
Published: April 2003

A mathematical model of solute kinetics for the improvement of hemodialysis treatment is presented. It includes a two-compartment description of the main solutes and a three-compartment model of body fluids (plasma, interstitial and intracellular). The main model parameters can be individually assigned a priori, on the basis of body weight and plasma concentration values measured before beginning the session. Model predictions are compared with clinical data obtained in vivo during 11 different hemodialysis sessions performed on 6 patients with a profiled sodium concentration in the dialysate and a profiled ultrafiltration rate. In all cases, the agreement between the time pattern of model solute concentrations in plasma and the in vivo data proves fairly good as to urea, sodium, chloride, potassium and bicarbonate kinetics. Only in two sessions was blood volume directly measured in the patient, and in both cases the agreement with model predictions was good. In conclusion, the model allows a priori computation of the amount of sodium removed during hemodialysis, and makes it possible to predict the plasma volume changes and plasma osmolarity changes induced by a given sodium concentration profile in the dialysate and by a given ultrafiltration profile. Hence, it can be used to improve clinical tolerance to the dialysis session taking the characteristics of individual patients into account, in order to minimize intradialytic hypotension.
Biofilms Invade Nephrology: Effects in Hemodialysis
Authors: Cappelli G. , Ballestri M. , Perrone S. , Ciuffreda A. , Inguaggiato P. , Albertazzi A.
Published: April 2003

Bacteria attach to surfaces and aggregate in a biopolymer matrix to form biofilm. Studies on biofilm have shown its presence in many prosthetic devices used in nephrology as well as in fluid pathways of hemodialysis plants and monitors. Once present, this community of bacteria increases resistance to biocide due to slime production and, as a result, chemical products for dialysis monitor disinfection and descaling procedures do not result in an effective treatment. Ultrapure dialysate is a goal in modern hemodialysis, and ultrafiltration is used to obtain sterile and apyrogen fluids. Microbial colonisation of ultrafilters may occur if, due to inadequate disinfection protocols, membrane is exposed to persistent bacterial contamination, and biofilm is allowed to form and to grow. As more and more data link final dialysate microbial contamination to clinical effects of bioincompatibility from chronic inflammation in dialysis patients, attention has to be focused on possibilities of biofilm avoidance.
Long-Term Changes of Plasma Trace Element Concentrations in Chronic Hemodialysis Patients
Authors: Krachler Michael , Wirnsberger Gerhard H.
Published: April 2003

Background: Hemodialysis (HD) patients are at risk of developing trace element imbalances. Methods: The 12 trace elements Cd, Co, Cs, Cu, La, Mg, Mo, Pb, Rb, Sr, Tl and Zn were determined in the plasma (n = 52) of 6 chronic HD patients before and after HD sessions by inductively coupled plasma mass spectrometry. Plasma trace element concentrations were monitored for 6 months. Baseline data have been compared to the concentrations at the end of the observation period to identify a potential reduction or accumulation of trace elements in HD patients. Results: Plasma Cd, Co and Pb levels were about 10 times higher than in healthy adults. Concentrations of Co and Pb increased during HD sessions, whereas plasma Co and Cd increased during the study period of 6 months. Plasma Cs, Mg, Mo and Rb continuously decreased in all patients. For plasma Cu and Zn, a statistically significant rise of their plasma concentrations during HD and during the period of 6 months could be established. Concentrations of La and Tl did not change distinctly. Conclusion: This study revealed that plasma trace element concentrations in HD patients are distinctly different compared to that of healthy adults. Elements such as Cs, Mg, Mo and Rb are reduced and Cd, Co and Pb are accumulated in HD patients. Further studies are needed to elucidate the clinical impact of these trace element imbalances.
Is There a Future for Adsorption Techniques in Sepsis?
Authors: Stegmayr Bernd G.
Published: April 2003

During sepsis toxins released from, e.g., bacteria induce reactions of various cascade systems that may cause progression of the patient into septic shock, disseminated intravascular coagulation, multiorgan dysfunction syndrome and subsequent death. The use of conventional treatments using antibiotics, fluid substitution, inotropic drugs, respiration aid and dialysis is not enough to reverse the serious prognosis. The addition of various other drugs such as antibodies against various cytokines and cytokine receptors, pentoxiphylline, immunoglobulins or high doses of steroids is usually without benefit for the prognosis of the patient. Another possibility to reduce the extent of toxins and other harmful compounds in the circulation is the use of apheresis (removal by technical devices). This can be done either in a nonselective way (plasma exchange, plasmapheresis) or more selectively using various adsorbers such as polymyxin B. The survival in studies varies between 50 and 80%. Besides the use of nonselective apheresis, the development of various selective adsorption techniques may be one approach to improve survival of these severely ill patients.
Extracorporeal Removal of Circulating Immune Complexes: From Non-Selective to Patient-Specific
Authors: Matic Goran , Schütt Wolfgang , Winkler Roland E. , Tiess Michael , Ramlow Wolfgang
Published: April 2003

The classical immune complex-mediated disease, termed serum sickness, developed a short time after the injection of horse anti-tetanus toxin. Antibodies against circulating horse plasma proteins lead to the formation of immune complexes within the blood circulation (CIC). The inflammatory response, including systemic complement activation and vasculitis, seriously affected the function of all organs, including the most susceptible kidney. Meanwhile CIC have been detected in almost every systemic disease, including autoimmune disorders and also cancer and infections. This brief review will focus on the rationale and the equipment for extracorporeal elimination of CIC.
Effects of L-Carnitine Supplementation on Renal Anemia in Poor Responders to Erythropoietin
Authors: Matsumoto Yoshihiro , Amano Izumi , Hirose Shinichi , Tsuruta Yoshinari , Hara Shigeko , Murata Michio , Imai Tsuneki
Published: April 2003

While renal anemia can be successfully treated by use of erythropoietin (EPO) in most hemodialysis (HD) patients, some patients have anemia that is refractory to treatment with a high dose of EPO. We examined whether L-carnitine treatment could raise hematocrit (Hct) levels in such patients. Fourteen HD patients who showed a poor response to EPO and no evident factors which inhibit a response to EPO were selected to receive oral L-carnitine (500 mg/day) in a 3-month trial. During the study, 36% of the patients showed Hct increases of more than 2%. Statistical analysis revealed significant increases of Hct (p = 0.003) and total iron-binding capacity (TIBC) (p = 0.050) and a significant decrease of ferritin (p = 0.005). In addition, we found that red blood cells (RBCs) in HD patients contained a comparable level of carnitine to normal controls, despite the presence of serum carnitine deficiency, and that RBC carnitine was not removed through HD, in contrast to serum carnitine. These results suggest that RBC carnitine may be essential for RBCs to perform their metabolic function in renal anemia and that oral L-carnitine treatment could improve anemia in poor responders to EPO.
Cloning and characterization of ASH2L and Ash2l, human and mouse homologs of the Drosophila ash2 gene
Authors: Ikegawa S. , Isomura M. , Koshizuka Y. , Nakamura Y.
Published: April 2003

Drosophila ash2 belongs to the trithorax (trx) gene family. The ash2 product positively regulates expression of homeotic selector genes, and is implicated in early development and formation of various disc patterns in the fruit fly. Through large-scale sequencing of human genomic DNA coupled with in silico gene trapping, we identified a gene (ASH2L) on chromosome 8p11.2 whose predicted product was highly homologous to ash2, characterized it, and identified its mouse counterpart. The human ash2 cDNA is 2368 bp long, encoding 628 amino acids. The 16-exon gene spans more than 34 kb of genomic DNA between STS markers WI-9207 (centromere) and AFMA295ZD5 (telomere) on chromosome 8, with transcription oriented telomere to centromere. The ash2 genes are highly conserved among different species, including C. elegans and yeast. The presence of a conserved bipartite nuclear localization signal and a PHD finger motif in the human ash2 gene suggests that the gene product would function as a transcriptional regulator in humans, as its homologue does in Drosophila.
cDNA cloning of human muskelin and localisation of the muskelin (MKLN1) gene to human chromosome 7q32 and mouse chromosome 6 B1/B2 by physical mapping and FISH
Authors: Adams J.C. , Zhang L.
Published: April 2003

Muskelin is a novel intracellular protein, identified in mouse cells, that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin-1. We report that human muskelin is 98% identical with mouse muskelin at the amino acid level. The human muskelin gene is located at 7q32. The mouse muskelin gene maps syntenically at chromosome 6 B1/B2.
Cytogenetics and mechanisms of spontaneous abortions: increased apoptosis and decreased cell proliferation in chromosomally abnormal villi
Authors: Qumsiyeh M.B. , Kim K.-R. , Ahmed M.N. , Bradford W.
Published: April 2003

Genetic defects of the zygote, such as chromosome aberrations, are the most frequent causes of abnormal embryonic development and spontaneous abortion. However, the underlying mechanisms remain unknown. Chromosome aberrations likely cause changes in placental morphology and function (such as size, shape, vascularity, and the presence of trophoblastic inclusion). We postulated that chromosome aberrations may affect rates of cell proliferation or programmed cell death (apoptosis) during the differentiation of chorionic villi. To address these questions, we evaluated cell proliferation using a monoclonal antibody to Ki-67 (a cell-cycle marker) and apoptosis using the in situ end-labeling method (TUNEL) on paraffin-embedded placental tissues. Tissues were obtained from spontaneous abortions in early gestational periods with normal (11 cases) and abnormal karyotypes (15 cases), as well as eight normal control placentas from elective abortions. Apoptotic cells were found in the stroma of all cases, but were significantly higher in number in the stroma of chromosomally abnormal versus chromosomally normal spontaneous abortions. The apoptotic index of the trophoblasts was not significantly different between groups. Cell proliferation was higher in muscularized blood vessels in chromosomally normal placentas (both elective and spontaneous abortions) versus chromosomally abnormal spontaneous abortions. Cell proliferation was different in the trophoblast and stroma between the groups but to a lesser degree than in blood vessels. The morphological and biological data presented here suggest that: (1) chromosomally abnormal spontaneous abortions may occur because of different mechanisms than chromosomally normal spontaneous abortions, (2) apoptosis of the stromal cells and cell proliferation in blood vessels and stroma play an important role in the differentiation and functioning of villi, and (3) these changes could explain the etiology of spontaneous abortion and growth retardation of chromosomally abnormal embryos.
Carotid Endarterectomy Does Not Affect Long-Term Blood Pressure: Observations from the NASCET
Authors: Eliasziw Michael , Spence J. David , Barnett Henry J.M.
Published: April 2003

The aim of the study was to examine how blood pressure is affected by carotid endarterectomy over a 2-year period. We analyzed the data from 997 patients who received best medical care alone and 999 patients who received best medical care plus carotid endarterectomy (CE). All patients were recruited by the North American Symptomatic Carotid Endarterectomy Trial and were followed at regular clinic visits. The mean blood pressure at baseline was 145.2/81.2 mm Hg for medically treated patients and 146.2/81.9 mm Hg for surgically treated patients. The mean systolic and diastolic pressures increased by approximately 2.5% in the first month following randomization, then decreased over the next year and then remained relatively uniform. Throughout follow-up, surgical patients had slightly higher blood pressures than medically treated patients. At the end of 2 years, the mean systolic pressures in the two treatment groups converged to 147.6 mm Hg. The mean diastolic pressure in the medical patients returned to its baseline value, whereas the surgical patients’ blood pressure remained slightly elevated by 0.5 mm Hg. The percentage of patients on antihypertensive medications mirrored the rise and fall in blood pressures. A sharp decrease in medication (from 56 to 43%) was observed in both treatment groups at 1 month. The percentage of patients on medication increased subsequently, with approximately 63% taking medication at the end of 2 years. CE does not affect long-term blood pressure. The use of antihypertensive medications appears to be the key component in blood pressure management. As hypertension is related to neurologic morbidity and mortality, strict regulation of blood pressure is extremely important in patients with cerebrovascular disease.
Impaired Orientation in Acute Stroke: Frequency, Determinants, and Time-Course of Recovery
Authors: Pedersen Palle Møller , Jørgensen Henrik Stig , Nakayama Hirofumi , Raaschou Hans Otto , Olsen Tom Skyhøj
Published: April 2003

Orientation is an indicator of general intellectual function and is defined as the ability to report time, place, and personal data. Our knowledge of orientation in acute stroke is sparse. We examined the frequency of impaired orientation in acute stroke, its determinants, and recovery in 653 consecutive patients with acute stroke who were not unconscious and who were without severe aphasia. Prospective assessments of orientation and stroke severity were done by the Scandinavian Neurologic Stroke Scale at the time of acute admission and hereafter weekly until the end of rehabilitation. Impaired orientation was found in 23% of the patients on acute admission and in 12% of the survivors after completed rehabilitation. A stationary level of orientation was achieved by 80% of the patients within 2 weeks and by 95% within 6 weeks. A multiple linear regression analysis found neurological score (B = 0.027, SE(B) = 0.003), age (B = –0.013, SE(B) = 0.003), and comorbidity (B = –0.023, SE(B) = 0.078), but not sex, prior stroke, handedness, or side of stroke lesion to be significant independent determinants of orientation score on acute admission. Lesions involving the anterior and medial thalamus and/or any of the cerebral lobes were associated with impaired orientation. In conclusion, impaired orientation is frequent in acute stroke and the time-course of recovery is similar to what has been found in other neuropsychological impairments with the major part of recovery early after stroke onset.
Complications of Acute Ischaemic Stroke
Authors: van der Worp H.B. , Kappelle L.J.
Published: April 2003

Neurological, cardiac, and systemic complications during the first days to weeks after ischaemic stroke can cause substantial morbidity and mortality. The reported 30-day case fatality rate for cerebral infarction varies between 10 and 17%. The incidence and effects of the various complications vary with time after stroke: transtentorial herniation and other cerebral complications prevail during the 1st week, whereas medical complications are more prominent in the weeks thereafter. Many complications are treatable, and some are preventable. The goal of this report is to provide information on their incidence, consequences, and management.
Symptomatic Haemodynamically Significant Carotid Occlusion Treated by Posterior Circulation Revascularization
Authors: White R.P. , Barnes P. , Markus H.S.
Published: April 2003

Haemodynamic cerebral ischaemic symptoms secondary to occlusive atheromatous disease of the internal carotid artery may resolve with revascularization. We describe a case of symptomatic internal carotid artery occlusion and ipsilateral subclavian stenosis with duplex and angiographically demonstrated vertebrobasilar steal and a patent ipsilateral posterior communicating artery with flow towards the steal. The patient suffered frequent ipsilateral middle cerebral artery territory transient ischaemic attacks and one minor stroke. Transcranial Doppler demonstrated markedly impaired ipsilateral carbon dioxide reactivity (13.8%, lower-limit normal range >32.6%). Percutaneous angioplasty to the subclavian artery stenosis resulted in resolution of symptoms and an improvement in reactivity to near the lower limit of the normal range (33.5%). This case demonstrates that normalization of vertebral artery steal by subclavian artery revascularization may benefit anterior circulation haemodynamic symptoms in the presence of a functioning posterior communicating artery. The measurement of middle cerebral artery reactivity using transcranial Doppler can identify such cases of haemodynamic impairment and monitor the effect of therapy.
Thrombus in Vertebrobasilar Dolichoectatic Artery Treated with Intravenous Urokinase
Authors: DeGeorgia Michael , Belden John , Pao Linda , Pessin Michael , Kwan Eddie , Caplan Louis
Published: April 2003

Background: Vertebrobasilar dolichoectasia is often found in patients with posterior circulation ischemia. Brain ischemia is caused by abnormal flow in the dilated artery and obstruction of paramedian arteries or intraluminal thrombus with artery-to-artery embolism. We report a patient with vertebrobasilar dolichoectasia and luminal thrombus treated with intravenous urokinase who did well but died 2 months later of subarachnoid hemorrhage. Case Description: A 60-year-old man developed right-hand clumsiness, dysarthria and ataxia. Computed tomography showed vertebrobasilar dolichoectasia and thrombus in the basilar artery. Symptoms quickly resolved on heparin but recurred on warfarin and again resolved on heparin. Two weeks later, while on warfarin and aspirin 325 mg, he developed hand numbness, oscillopsia and ataxia. Symptoms again resolved on heparin. Angiography showed severe dolichoectasia of the distal right vertebral artery and basilar artery. A large mural thrombus was detected in the ventral part of the distal basilar artery narrowing the lumen by 50%. He was treated with intravenous urokinase 4,400 units/kg as a bolus followed by 4,400 units/kg/h for 12 h. Repeat angiography showed almost complete recanalization and improved filling of basilar artery branches. He was maintained on warfarin and aspirin 81 mg and had no further ischemic episodes. He died 2 months later of rupture of the basilar artery and subarachnoid hemorrhage. Conclusion: Some patients with thrombosis of vertebrobasilar dolichoectactic arteries continue to have ischemic symptoms despite adequate anticoagulation. Intravenous thrombolysis may be effective in reducing the risk of stroke, but the risk/benefit ratio needs to be assessed in each patient.
Vocal Cord Paresis in Acute Ischemic Stroke
Authors: Venketasubramanian N. , Seshadri R. , Chee N.
Published: April 2003

We prospectively determined the frequency of vocal cord paresis (VCP) among first-ever acute ischemic stroke patients. Vocal cords were examined endoscopically within 48 h of stroke onset, at 1 week and 1 month. Of the 54 study patients, 64.8% had lacunar (group 1), 22.2% cortical/large subcortical (group 2), 9.3% lateral medulla (group 3) and 3.7% other brainstem (group 4) infarcts. VCP was found in 11 (20.4%): 11.4% of group 1, 16.4% of group 2, 100% of group 3 and 0% of group 4. VCP was contralateral to the brain lesion in groups 1 and 2, and ipsilateral in 80% of group 3. VCP was strongly correlated with dysphonia (p < 0.0001) and resolved in 2/11 patients after 1 week and in 5/11 after 1 month. Our finding of VCP among acute ischemic stroke patients questions the belief that the nucleus ambiguous is invariably bilaterally innervated by supranuclear centers.
Increased Risk of Intracranial Hemorrhage when Aspirin Is Combined with Warfarin: A Meta-Analysis and Hypothesis
Authors: Hart Robert G. , Benavente Oscar , Pearce Lesly A.
Published: April 2003

Background: Oral anticoagulation with vitamin K antagonists increases the risk of intracranial hemorrhage; whether addition of aspirin to oral anticoagulation augments this risk is unclear. Methods: Meta-analysis of randomized clinical trials in which aspirin was added to oral anticoagulants. Results: Six randomized clinical trials were identified, including a total of 3,874 participants. Use of aspirin with oral anticoagulants was associated with more than double the frequency of intracranial hemorrhage (relative risk = 2.4, 95% CI = 1.2–4.8, p = 0.02). Conclusion: We hypothesize that aspirin when added to oral vitamin K antagonists may increase the risk of intracranial hemorrhage, but this observation requires confirmation. The magnitude of this effect is uncertain, and the clinical importance is likely different for different patient populations.
Validity of Stroke Diagnosis on Hospital Discharge Records in Saskatchewan, Canada: Implications for Stroke Surveillance
Authors: Liu Liyan , Reeder Bruce , Shuaib Ashfaq , Mazagri Rida
Published: April 2003

This study examines the validity of the diagnosis of stroke on hospital discharge records in Saskatchewan, Canada. In total, 1,494 records with a discharge diagnosis of ‘stroke’ or a ‘stroke-related condition’ were reviewed. The clinical algorithm of the 1980 USA National Survey of Stroke was considered the ‘gold standard’. The positive predictive value of a primary diagnosis of stroke in the tertiary-care hospitals was about 90%. In community hospitals the majority of stroke cases were coded as ICD9 436 in which the positive predictive value was 78%. The variation between regions would limit the use of hospital discharge data for stroke surveillance.
Emergency Carotid Endarterectomy
Authors: Eckstein Hans-Henning , Schumacher Hardy , Klemm Klaus , Laubach Hans , Kraus Thomas , Ringleb Peter , Dörfler Arnd , Weigand Markus , Bardenheuer Hubert , Allenberg Jens-Rainer
Published: April 2003

Objective: Evaluation of the therapeutical efficacy of emergency carotid endarterectomy (CEA) in neurologically unstable patients. Patients and Methods: Three groups of a consecutive series of 71 emergency CEAs performed from 1980 to July 1998 were classified: (1) acute onset of severe stroke (n = 16), (2) progressive stroke/stroke in evolution (n = 34), and (3) crescendo transient ischemic attacks (n = 21). Cerebral coma, cerebral haemorrhage, and major ischemic stroke established in cranial computed tomography scans were contraindications for surgery. The neurological outcome was assessed by the modified Rankin scale. Long-term survival and long-term stroke recurrences were analyzed. Results: The recovery/minor stroke rates (Rankin 0–3) in acute stroke, progressive stroke, and crescendo transient ischemic attacks were 56.3, 76.4 and 80.9%, respectively; the combined major stroke/mortality rates (Rankin 4–6) were 43.7, 23.6 and 19.1%, respectively. Intraoperative angiography in 39 patients detected early carotid reocclusions in 2 and intracranial embolism in 7 patients. Local application of thrombolytic agents (n = 5) may contribute to a better neurological outcome in emergency CEA. Life table probabilities of major strokefree survival were 74.5, 71.6, and 53.7% after 1, 2, and 5 years, respectively (including perioperative strokes). Life table probabilities to suffer no stroke recurrence during follow-up were 96.7, 96.7 and 85.3%, respectively (perioperative strokes excluded). Conclusions: Emergency CEA may be worthwhile in selected patients. Completion angiography is mandatory. Emergency CEA should be included in therapeutic strategies for ischemic stroke.
The Detection of Microembolic Signals in Patients at Risk of Recurrent Cardioembolic Stroke: Possible Therapeutic Relevance
Authors: Batista Paulo , Oliveira V. , Ferro J.M.
Published: April 2003

The clinical predictors and potential therapeutic implications of microembolic signals (MES) were investigated in 104 patients with ischemic stroke or transient ischemic attack associated with high-risk (n = 60) or low-risk (n = 44) cardiac emboligenic conditions. Patients with artificial valves and carotid stenosis were excluded. MES counts were based on 30-min bilateral middle cerebral artery transcranial Doppler (TCD) monitoring recordings. MES were detected in 15 subjects (14%). The mean number of MES per hour was 1.9. MES prevalence and counts were influenced neither by age, gender or type of cerebral event, nor by cardiac disease. MES were more frequently detected and greater in number in patients with multiple cerebral ischemic events and in subjects monitored within 1 month of the last event. By multiple logistic regression, TCD recording within 1 month of the last event [Odds ratio (OD) = 13.5; 95% confidence intervals (CI) = 3.3–54.3] and multiple cerebral events (OD = 4.7; 95% CI = 1.3–17.3) were the best MES predictors. MES were detected in 40% (4/10) of patients on heparin, 5% (2/4) of untreated subjects and 13% (5/39) of those on antiplatelet drugs. For patients on warfarin, MES counts and prevalence were similar in subjects with international normalized ratios (INR) below and within/above the therapeutic range. MES were detected in only 2 out of 16 subjects with INR <2 and in 1 with INR >2. MES detection can be potentially relevant to the selection of antithrombotic treatment in acute stroke associated with cardioembolic disease, but further studies are necessary to assess its effectiveness as an additional guide to monitor oral anticoagulant intensity.
Cerebral Artery Thrombosis as a Cause of Striatocapsular Infarction
Authors: Nishida Naoki , Ogata Jun , Yutani Chikao , Minematsu Kazuo , Yamaguchi Takenori
Published: April 2003

Striatocapsular infarction is a distinct form of stroke, but few histopathological studies have been performed concerning acute lesions. We report the postmortem findings of a patient with an infarct who died shortly after onset. A 72-year-old man died of acute myocardial infarction 6 days after the onset of left-sided striatocapsular infarction. Autopsy revealed thrombus formation of the left middle cerebral artery (MCA) trunk. The lateral striate arteries irrigating the area of the infarct branched off distal to the arterial segment occluded with a thrombus. The cortical vessels were perfused by leptomeningeal collaterals. This report histopathologically confirmed thrombus formation of the MCA resulting in striatocapsular infarction.
Hemorrhagic Lacunar Stroke
Authors: Arboix Adrià , García-Eroles Luis , Massons Juan , Oliveres Montserrat , Targa Cecilia
Published: April 2003

A total of 17 patients with lacunar syndromes due to intracerebral hemorrhage or hemorrhagic lacunar stroke (pure motor hemiparesis 9, sensorimotor stroke 5, pure sensory stroke 3) are reported. Data from these patients were obtained from consecutive stroke patients included in the prospective Hospital Sagrat Cor-Aliança Stroke Registry. Hemorrhagic lacunar stroke accounted for 3.8% of all cases of lacunar syndrome (n = 439) and 7.4% of all cases of intracerebral hemorrhage (n = 229) entered in the database. Demographic, anamnestic, clinical and neuroimaging variables in patients with hemorrhagic lacunar stroke, non-lacunar intracerebral hemorrhage and non-hemorrhagic lacunar stroke were compared. Predictors of hemorrhagic lacunar stroke were assessed by logistic regression analysis. Hypertension, cigarette smoking and involvement of the internal capsule were significantly more frequent in patients with hemorrhagic lacunar stroke than in those with non-lacunar intracerebral hemorrhage, whereas nausea and vomiting, altered consciousness, speech disturbances, hemianopia, and ventricular hemorrhage were significantly less frequent. As compared with non-hemorrhagic lacunar stroke, patients with hemorrhagic lacunar stroke were more likely to have hypertension, sudden stroke onset (minutes), head injury, headache, and basal ganglia involvement and less likely to have diabetes, gradual stroke onset (hours), and dysarthria. After multivariate analysis, only headache (OR 10.14), sudden onset (OR 9.89), and dysarthria (OR 0.10) were independent predictors of hemorrhagic lacunar stroke. Accordingly, the presence of headache and sudden onset of symptoms and absence of dysarthria may be useful signs for distinguishing hemorrhagic lacunar stroke from other causes of lacunar stroke.
The Thrombomodulin Gene Mutation G127→A (Ala25Thr) and Cerebrovascular Disease
Authors: Warner Darren , Catto Andrew , Kunz Gabriella , Ireland Helen , Grant Peter J. , Lane David A.
Published: April 2003

Background and Purpose: Thrombomodulin is an integral part of the protein C anticoagulation pathway, and polymorphisms of its gene have been implicated in thrombosis. The point mutation G127→A has recently been found to be associated with myocardial infarction. Methods: We investigated this mutation in 465 patients with acute stroke and 353 control subjects. Genomic DNA containing the region of interest was amplified by PCR, and differing genotypes were identified by RFLP. Results: The A allele frequency was not statistically significantly different in the two groups, being 0.5% in the stroke group and 0.7% in the control group. Conclusions: The point mutation G127→A is an uncommon finding and, in this population, is unlikely to be a major risk factor for cerebrovascular disease.
Strengthening Genetic Services in Primary Care for Asian Americans and Pacific Islanders
Authors: George Rani
Published: April 2003

The Association of Asian Pacific Community Health Organizations (AAPCHO) is a national membership organization of community health centers (CHCs) that serve medically underserved Asian Americans and Pacific Islanders (AAPIs) with limited English-speaking proficiency and low income. Objectives: In 1995, AAPCHO was funded for a 3-year national genetics training project to improve genetics training among primary care providers at CHCs and strengthen linkages with tertiary genetic centers (TGCs). Three model linkages between CHCs and TGCs were documented on the coordination of genetic services for medically underserved AAPIs. Methods: Guidelines were developed for three CHCs to document their genetic programs and linkages with TGCs. In addition, one clinic conducted a mail survey to assess understanding of prenatal genetic counseling sessions by patients that visited the clinic during the past 2 years. Results: Model linkages between CHCs and TGCs to improve cultural and linguistic accessibility for patients include formal coordination between the CHCs and TGCs for the delivery of genetic services and the provision of varying levels of genetic services at the CHC. From the patient survey, there was a 59% response rate among 70 surveys mailed to former patients. The survey results showed that while a majority of patients understood and recalled key genetic concepts, one-fifth of patients experienced difficulty understanding their genetic counseling sessions. Conclusion: Based on model linkages between CHCs and TGCs and the patient satisfaction survey results, the following strategies are recommended to improve accessibility of genetic services for medically underserved AAPIs: (1) genetics education should be developed for all levels of health center staff; (2) counseling should be culturally sensitive and focus on key issues that must be conveyed for appropriate informed consent; (3) genetics education should employ the use of translated audiovisual aids and brochures to improve understanding; (4) genetic services should be coordinated between CHCs and TGCs to provide culturally and linguistically competent care for medically underserved AAPIs, and (5) financial mechanisms should be available to support genetic testing of patients and their families with little or no coverage for genetic services.
A National Dialogue on Genetics and Minority Issues
Authors: Mittman IlanaSuez , Secundy MarianGray
Published: April 2003

This paper summarizes two-day deliberations on issues of genetic services and diverse communities, attended by experts representing genetic consumers, representatives of diverse communities and genetic providers/scientists. The discussions held in round table dialogue sessions focused on the following subjects: Inclusion of ethnic/racial minorities in bio-medical research; ensuring minority access to genetic services; consumer protection in genetic testing and empowering minority communities to take part in genetic research and service provision. The discussions are vividly illustrated by the presentation of numerous quotes obtained from transcripts of the sessions held. The paper concludes with useful recommendations for genetic providers, educators, scientists, and policy makers on the issues of involving diverse communities in the various aspects of the new genetics.
Are Practicing and Future Physicians Prepared to Obtain Informed Consent? The Case of Genetic Testing forSusceptibility to Breast Cancer
Authors: James Cynthia A. , Geller Gail , Bernhardt Barbara A. , Doksum Teresa , Holtzman Neil A.
Published: April 2003

Objective: To assess practicing and future physicians’ preparedness to obtain informed consent for cancer susceptibility testing. Methods: Questionnaires were mailed to 601 Maryland physicians and 513 first- and fourth-year medical students. Results: Two thirds of students, but only 56% of physicians considered it very important to obtain informed consent for BRCA1 testing (p < 0.05). Forty-six percent of fourth-year students, but only 26% of first-year students and 30% of physicians could calculate the positive predictive value of a BRCA1 test (p < 0.001). A minority of respondents would offer testing for inappropriate indications. Conclusion: Failure to consider informed consent important, to understand the uncertainty of predictive test results, and to recognize when testing is inappropriate are barriers to informed consent. Although current medical training may be reducing some barriers, increased attention to these topics in medical school curricula is suggested.
Prenatal Screening and the Reduction of Birth Defects in Populations
Authors: Baird Patricia A.
Published: April 2003

Objectives: Birth defects occur in populations in 3–5% of births. This paper assesses whether population-wide screening programmes for pregnant women would be likely to result in major decreases in the prevalence of birth defects. Method: Relevant literature on this question is reviewed and synthesized. Results: Given certain assumptions, a decrease from 3–5 to 2–4% in the prevalence of defects at birth may be possible. The resources required to put in place an appropriately delivered programme to achieve this are substantial. Conclusions: As well as the potential benefit of a decrease, there are opportunity costs, and potential serious harms. Unless undertaken in a carefully planned and monitored way, a population-based birth defects reduction programme is likely to bring harm and anxiety rather than benefit.
Screening for Alpha-Thalassemia-1 Heterozygotes in Expecting Couples by the Combination of a Simple Erythrocyte Osmotic Fragility Test and a PCR-Based Method
Authors: Sanguansermsri Torpong , Phumyu Nonglak , Chomchuen Surasit , Steger Heinrich F.
Published: April 2003

Objective: To develop a simple method for the prospective identification of couples at risk of homozygous α-thalassemia-1 (Hb Bart’s hydrops fetalis) in pregnancy. Methods: Antenatal care (ANC) women and their husbands were analyzed using a simple erythrocyte osmotic fragility (EOF) test and a PCR-based method for the detection of the mutation leading to α-thalassemia-1 of the Southeast Asian type (SEA). Results:  Heterozygosity for the α-thalassemia-1 (SEA) deletion was found to correlate with an EOF value <60%. For a prospective screening, ANC women and their husbands are analyzed with the EOF test and only those having a value <60% were further checked by PCR. Of 2,769 cases analyzed during a 6-month period, 24 couples in which both partners are heterozygotes could be identified for genetic counseling and prenatal diagnosis. The application of the EOF test decreased the workload for PCR by ∼80%. Conclusion: Prospective screening for α-thalassemia-1 (SEA) heterozygotes in northern Thailand is becoming easier to realize by the combination of EOF test and PCR.
The UK’s Policies on Genetic Testing for Late-Onset Disorders
Authors: Holtzman Neil A.
Published: April 2003

The second report of the UK’s Advisory Committee on Genetic Testing deals primarily with predictive testing for late-onset Mendelian dominant disorders. This focus leads to some ambiguity as to whether the policies promulgated by the Committee are intended to apply also to genetic susceptibility testing for multifactorial disorders, which is discussed in an Annex. The policies cover a wide range of topics including some that have received little attention elsewhere.
Cost-Effectiveness of Population-Based Genetic Hemochromatosis Screening
Authors: Schöffski Oliver , Schmidtke Jörg , Stuhrmann Manfred
Published: April 2003

Objective: Evaluation of the costs of a population-based genetic hemochromatosis (HH) screening. Methods: We performed a decision tree analysis and subsequently quantified the screening and treatment costs and the effect on life expectancies. Assumptions were based on literature data and expert opinions. Results: Under the very conservative assumptions of a 10% penetrance, a carrier frequency of 10%, a mean age of onset of complications of 54 years, and a 90% compliance with treatment (phlebotomy), we calculated the cost to be 7.26 EUR per tested person versus 1.62 EUR per nontested person (1 EUR ≈ 1 USD). The life expectancies for a 25-year-old male are 48.99843 years (if not tested) versus 48.99970 years (if tested). Although increased life expectancy for the entire population as a result of screening is negligible, for the 1 in 4,000 men who could benefit from it, an average of 2,000 extra days will be gained. By dividing the difference of cost by the difference of life expectancy, we calculated the cost for one life year gained to be 4,441 EUR. Under less stringent conditions (higher penetrance, higher carrier frequency) the costs decrease substantially. Conclusion: Costs of population-based genetic HH screening are very acceptable compared to the costs of other health care measures. We conclude that genetic HH screening is feasible under economic aspects of health care.
Feasibility of a Change in Service Delivery: The Case of Optional Newborn Screening for Duchenne Muscular Dystrophy
Authors: Parsons Evelyn P. , Clarke Angus J. , Hood Kerry , Bradley Don M.
Published: April 2003

Objective: To examine the feasibility of introducing a new procedure for delivering newborn screening for Duchenne muscular dystrophy (DMD) which made the optional nature of the test explicit. Method: A consecutive cohort of parents with newborn baby boys was offered screening for DMD. When the baby was bled by the midwife (day 6/7) for routine tests, if the parents wanted the test, an extra spot of blood was put on a separate newborn screening sample card. The families were asked to post the sample card to the laboratory themselves. Results: The overall uptake of screening was 78% with the majority of parents (569/601 94.7%) notifying their decision about DMD screening to the laboratory. Conclusions: The new procedure was shown to be feasible for midwives, laboratory staff and the majority of parents. There are, however, added burdens and added benefits to both service provider and service user which need to be taken into account.
Fragile X Syndrome Screening: A Current Opinion
Authors: Neri Giovanni , Chiurazzi Pietro
Published: April 2003

The fragile X syndrome is the most common cause of inherited mental retardation. Yet, its exact prevalence is still not known. Although a population screening, e.g. on consecutive newborns, would provide a reliable estimate, it cannot be accepted uncritically, and the following points must be given careful consideration: poor general knowledge of the syndrome, consequent need for costly educational campaigns, relatively high cost of the screening assay, identification of premutation carriers raising difficult counseling issues, risk to jeopardize the consolidation of parent-infant bonding. Screening of pregnant women at antenatal clinics might represent an alternative approach. However, pilot studies will have to be performed to address the above-mentioned questions.
A Meta-Analysis of Clinical Studies on the Caries-Inhibiting Effect of Fluoride Gel treatment
Authors: van Rijkom H.M. , Truin G.J. , van ’t Hof M.A.
Published: April 2003

A meta-analysis was performed on published data on the caries-inhibiting effect of fluoride gel treatment in 6- to 15-year-old children. The purposes of this meta-analysis were: (1) to calculate the overall caries-inhibiting effect of clinical fluoride gel treatment studies, based on explicit selection criteria, and (2) to explore factors potentially modifying the effect of fluoride gel treatment in caries prevention, concerning the baseline caries prevalence of the target population, the general fluoride regimen, and application features. The caries-inhibiting effect of fluoride gel application was assessed by the prevented fraction and the ‘number needed to treat’. The overal prevented fraction of the fluoride gel treatment studies, indicating the reduction of caries incidence by fluoride gel treatment relative to the incidence in the control group, was 22% (95% CI = 18–25%). Multiple regression analysis showed no significant influence on the prevented fractions for the variables ‘baseline caries prevalence’, ‘general fluoride regimen’, ‘application method’, and ‘application frequency’. The ‘number needed to treat’ (NNT), indicating the number of patients that need to be treated in order to prevent 1 DMFS, estimated the efficiency of fluoride gel treatment according to the caries incidence of the target population, including cost/effect relations. It was found that the NNT = 18 in a population with caries incidence 0.25 DMFS per year, and NNT = 3 in a population with caries incidence = 1.5 DMFS per year (treatment duration 1 year). From the standpoint of cost-effectiveness, the additional effect of fluoride gel treatment in current low and even moderate caries incidence child populations must be questioned.
Three-Year Survival of One-Surface ART Restorations and Glass-Ionomer Sealants in a School Oral Health Programme in Zimbabwe
Authors: Frencken J.E. , Makoni F. , Sithole W.D. , Hackenitz E.
Published: April 2003

An oral health care programme in secondary schools using the atraumatic restorative treatment (ART) approach for dental caries was started in 1993. Glass ionomer (restorative type II, 1) was used as the restorative and sealant material. Sealants were placed using the ‘press-finger’ technique. Results after 3 years revealed a survival percentage for one-surface ART restorations of 85.3 (95% CL: 89.7–80.9%), which ranged from 96.1 to 69.3% per operator. Failures were related to ‘unacceptable marginal defects’ (8.1%), ‘falling out’ (6.1%) and ‘excessive wear’ (2.5%). Of the 33 failed one-surface ART restorations, 17 were material-related, 7 had caries and no information was available for 9 restorations. Sealants were placed only on surfaces diagnosed as early enamel lesions and on some small dentinal lesions. After 3 years, 50.1% (95% CL: 55.1–45.1%) of the fully and partially retained sealants survived with a range of 68.5–25.9% per operator. Regardless of the low rate of retention, the sealed surfaces had a 4 times lower chance of developing caries than unsealed surfaces with early enamel lesions over the 3-year period. The retention of sealants and the survival of one-surface ART restorations were influenced by an operator effect. The mean treatment time for one-surface ART restorations without chairside assistance was 22.1 min (range per operator of 19.8–23.6 min), whilst the mean time for placing sealants was 9.3 min (range per operator of 8.2–10.8 min). It is concluded that the ART approach and the use of glass-ionomer sealants have made preventive and restorative dental care available for this student population and further that ART seems to be appropriate for population groups currently not receiving preventive and restorative dental care.