RÉSUMÉ
X-chromosomal markers have been proved as a useful tool for solving complex kinship cases due to its sex-linked inheriting feature. Among these markers, tightly linked X-STR clusters forming haplotypes are highly informative. The analysis of the haplotypes requires determination of linkage disequilibrium. In this study, genetic linkage, recombination fractions and mutation rates of 38 X-STR loci in 177 three-generation pedigrees were investigated. Genetic linkage analysis and calculation of recombination fractions were performed within each pair of markers and clusters. Then mutation rates were calculated. The results showed that, a) 22 recombination events happened within the tightly linked X-STR clusters, which span<1.0 Mb; b) significantly linked marker pairs were observed with the LOD (logarithm of the odds) scores > 2.0 (2.0104 to 54.8316); c) the average mutation rate of the 38 X-STR loci was 1.32 × 10-3 per meiosis in the Chinese Han population, with DXS10135 and DXS8377 presenting notably high mutation rate (6.5 × 10-3). Our results confirmed that meiotic recombination was not a simple function of physical distance, so that whether recombination occurred at the closely clustered X-STRs or not should be assumed cautiously considering the stability of haplotypes in inheritance process for kinship analysis. This study supplemented the existing database and laid an experimental foundation for the future study on genetic characteristics, recombination, and mutation of the X-STRs.
Sujet(s)
Chromosomes X humains , Répétitions microsatellites , Humains , Pedigree , Répétitions microsatellites/génétique , Chromosomes X humains/génétique , Liaison génétique/génétique , ChineRÉSUMÉ
BACKGROUND AND OBJECTIVE: Elevated levels of B-type natriuretic peptide (BNP) can predict the prognosis of patients with acute ischemic stroke (AIS). However, the association between BNP levels and the clinical outcome in patients with AIS receiving intravenous thrombolysis treatment remains controversial. Therefore, this study aimed to analyse the role of BNP in patients with ischemic stroke who received intravenous recombinant tissue plasminogen activator (rt-PA) therapy. METHODS: This retrospective study involved 251 patients who were diagnosed with ischemic stroke and had undergone intravenous thrombolysis. The BNP level in blood was assessed before the treatment of thrombolysis. Outcome events include poor functional outcome, and mortality defined as modified Rankin Scale (mRS) scores of 3-6,and 6 respectively. RESULTS: In multivariate logistic regression, BNP > 78 pg/mL (odds ratio, 2.726 [95% CI, 1.440-5.159]; P = 0.002) was an independent risk factor for 3-month poor outcomes in patients with ischemic stroke treated with thrombolysis, whereas BNP > 103 pg/mL (odds ratio, 4.204 [95% CI, 1.382-12.788]; P = 0.011) was significantly associated with the 3-month mortality. The area under the curve (AUC) of BNP before thrombolysis to predict poor functional outcomes at 3 months were 0.679 (95% CI, 0.618-0.737; P < 0.001), and mortality at 3 months was 0.802 (95% CI, 0.747-0.849; P < 0.001), respectively. CONCLUSION: An early increase in BNP levels before intravenous thrombolysis was independently associated with 3-month poor outcomes and mortality. Moreover, the pre-thrombolytic BNP level may serve as a more reliable marker for predicting mortality in patients with ischemic stroke.
Sujet(s)
Fibrinolytiques/usage thérapeutique , Accident vasculaire cérébral ischémique/sang , Accident vasculaire cérébral ischémique/traitement médicamenteux , Peptide natriurétique cérébral/sang , Traitement thrombolytique , Activateur tissulaire du plasminogène/usage thérapeutique , Sujet âgé , Femelle , Humains , Accident vasculaire cérébral ischémique/mortalité , Mâle , Adulte d'âge moyen , Valeur prédictive des tests , Pronostic , Reproductibilité des résultats , Études rétrospectives , Taux de survieRÉSUMÉ
BACKGROUND: The association between atrial fibrillation (AF) and the prognosis of intravenous thrombolysis (IVT) in patients with Acute Ischemic Stroke (AIS) is debated. Hypokalemia is highly prevalent in patients with AF. We aimed to investigate the effect of hypokalemia and AF on the prognosis of AIS patients following IVT. METHODS: AIS patients undergoing IVT were enrolled and divided into four groups: normokalemia and non-AF, normokalemia and AF, hypokalemia and non-AF, hypokalemia and AF. Logistic regression was applied to analyze the impact of hypokalemia, AF, and their combination on the prognosis of patients. RESULTS: The analysis included 567 patients, 184 with 3-month poor prognosis (modified Rankin Scale score of 3-6). Following adjustment of risk factors, hypokalemia and AF increased the risks for 3-month poor prognosis (adjusted Odds Ratios (aOR) = 4.97; 95% confidence interval (CI), 1.99-12.44, P =.001), early neurological deterioration (END) (aOR=7.98; 95% CI, 3.55-17.95, P <.001), 1-year poor prognosis (aOR=5.05; 95% CI, 1.99-12.81, P =.001), 1-year all-cause death (aOR =6.95; 95% CI, 2.35-20.56, P <.001). Patients with normokalemia and AF merely increased the risk of 1-year all-cause death (aOR=2.69; 95% CI, 1.10-6.61, P=.013). Patients with hypokalemia and non-AF were not associated with any poor prognosis. There were combined and interactive effects of hypokalemia with AF on the 3-month poor prognosis (P for interaction =.039) and END (P for interaction=.005). CONCLUSION: Hypokalemia and AF synergistically increased the risk of near-term poor prognosis, END, long-term poor prognosis, and all-cause death of AIS patients following IVT.
Sujet(s)
Fibrillation auriculaire , Encéphalopathie ischémique , Hypokaliémie , Accident vasculaire cérébral ischémique , Accident vasculaire cérébral , Fibrillation auriculaire/complications , Fibrillation auriculaire/traitement médicamenteux , Encéphalopathie ischémique/complications , Humains , Hypokaliémie/complications , Pronostic , Accident vasculaire cérébral/complications , Accident vasculaire cérébral/traitement médicamenteux , Traitement thrombolytique/effets indésirables , Résultat thérapeutiqueRÉSUMÉ
OBJECTIVE: We aimed to develop an early and intense lower extremity training technique using a recumbent cycle ergometer system in patients with acute ischemic stroke. METHODS: This was a pilot, prospective, randomized, controlled study with 2 parallel groups followed for 3 months with blinded assessment of outcomes. Thirty-one eligible patients were randomized to experimental and control groups. To strengthen the motion of the lower extremities within 48 hours after stroke, the control and experimental groups received conventional treatment and additional interventions under a therapist's guidance combined with conventional treatment, respectively. The primary outcome measure was the change in lower extremity motor control from admission to 4 weeks, assessed by the Fugl-Meyer Assessment. Secondary outcomes were the number of days to walking 50 m and the change in the Berg Balance Scale score and Barthel index. The modified Rankin Score was used to assess the overall function and prognosis at 3 months. RESULTS: Fugl-Meyer Assessment and Berg Balance Scale scores and Barthel index increased over time in the experimental group, as did the Berg Balance Scale score and Barthel index in the control group (P < .001). However, Fugl-Meyer Assessment scores in the control group were similar over time (Fâ¯=â¯2.303, Pâ¯=â¯1.119). Fugl-Meyer Assessment scores in the experimental group were higher than those in the control group after 2 and 4 weeks (Pâ¯=â¯.084 and .037, respectively). Compared with the control group at 2 weeks or at discharge, the percentage of patients who returned to unassisted walking in the experimental group showed an increasing trend (56.3% versus 26.67%, Pâ¯=â¯.095), but there was no significant difference between the 2 groups after 3 months (Pâ¯=â¯.598). The modified Rankin Score at 3 months showed no significant difference between the 2 groups (P > .05). CONCLUSIONS: Our early and intense lower extremity training technique involving a leg cycle ergometer system contributes to the recovery of lower extremity function in patients with acute ischemic stroke. This finding will provide a basis for future investigations on the applicability of the intervention in early lower extremity and walking rehabilitation among individuals with neurological disorder.
Sujet(s)
Encéphalopathie ischémique/rééducation et réadaptation , Traitement par les exercices physiques , Membre inférieur/innervation , Activité motrice , Réadaptation après un accident vasculaire cérébral , Accident vasculaire cérébral/thérapie , Délai jusqu'au traitement , Marche à pied , Sujet âgé , Cyclisme , Encéphalopathie ischémique/diagnostic , Encéphalopathie ischémique/physiopathologie , Chine , Évaluation de l'invalidité , Femelle , Humains , Mâle , Adulte d'âge moyen , Projets pilotes , Équilibre postural , Études prospectives , Récupération fonctionnelle , Accident vasculaire cérébral/diagnostic , Accident vasculaire cérébral/physiopathologie , Facteurs temps , Résultat thérapeutiqueRÉSUMÉ
OBJECTIVE: To investigate the prognostic value of Platelet-to-Neutrophil ratio on admission (PNR on admission) and 24 h after intravenous thrombolysis (24 h PNR) in acute ischemic stroke patients (AIS) patients. PATIENTS AND METHODS: One hundred fifty-one ischemic stroke patients receiving intravenous thrombolysis were retrospectively recruited in this study. Complete blood count evaluations for PNR were conducted on admission and 24 h after the treatment of thrombolysis. The poor outcome at 3months was defined as the modified Rankin Scale of 3-6. RESULTS: In multivariate logistic regression, PNR on admission (odds ratio [OR] = 0.967, 95 % confidence interval [CI] = 0.939-0.996; P = 0.028), and 24 h PNR(OR = 0.933, 95 %CI = 0.895-0.972; P = 0.004) were all independent indicators for the 3-month poor prognosis in ischemic stroke patients receiving intravenous thrombolysis. The area under the curve of PNR on admission to predict poor functional outcomes at 3 months was 0.645 (95 %CI = 0.558-0.732; P < 0.001), and the best predictive PNR on admission value was 41.35. After the treatment of thrombolysis, the area under the curve of 24 h PNR to predict poor functional outcomes at 3 months was 0.796 (95 %CI = 0.722-0.858; P < 0.001), and the best predictive 24 h PNR value was 31.03. CONCLUSIONS: Both the PNR on admission and 24 h PNR were independently associated with poor functional outcomes. Compared with the PNR on admission, 24 h PNR may serve as a more reliable marker for a poor prognosis in ischemic stroke patients receiving intravenous thrombolysis.
Sujet(s)
Fibrinolytiques/usage thérapeutique , Accident vasculaire cérébral ischémique/traitement médicamenteux , Numération des leucocytes , Granulocytes neutrophiles , Numération des plaquettes , Traitement thrombolytique , Activateur tissulaire du plasminogène/usage thérapeutique , Administration par voie intraveineuse , Sujet âgé , Femelle , État fonctionnel , Humains , Accident vasculaire cérébral ischémique/sang , Accident vasculaire cérébral ischémique/physiopathologie , Modèles logistiques , Mâle , Adulte d'âge moyen , Analyse multifactorielle , Odds ratio , Pronostic , Indice de gravité de la maladieRÉSUMÉ
INTRODUCTION: The association between prediabetes and functional outcome in cerebrovascular diseases is controversial. No study has explored the relationship between prediabetes and functional outcome in intracerebral hemorrhage patients. Our study aimed to explore the association between prediabetes and functional outcome in intracerebral hemorrhage patients 1 month poststroke. METHODS: One hundred and fifty intracerebral hemorrhage patients were consecutively recruited within the first 24 hr after admission and were followed up for 1 month. Patients were divided into a diabetes mellitus group, a prediabetes group, and a nondiabetic group by fasting glucose levels, 2-hr postprandial blood glucose levels, and glycosylated hemoglobin levels. Patients with modified Rankin Scale scores >2 at 1 month were defined as having a poor functional outcome. RESULTS: The prediabetes group had a higher risk of poor functional outcome than the nondiabetic group in intracerebral hemorrhage patients (37.9% vs. 9.8%, χ2 = 11.521, p = .001). According to the logistic regression analyses, prediabetes was associated with a poor functional outcome in intracerebral hemorrhage patients after adjusting for confounding factors (odds ratio = 6.167, 95% confidence interval = 1.403-27.102, p = .016). CONCLUSIONS: Our findings show that prediabetes is associated with a poor functional outcome in intracerebral hemorrhage patients 1 month poststroke.
Sujet(s)
Hémorragie cérébrale/complications , Diabète de type 2/complications , Hospitalisation , État prédiabétique/complications , Sujet âgé , Hémorragie cérébrale/physiopathologie , Diabète de type 2/physiopathologie , Femelle , Humains , Mâle , Adulte d'âge moyen , État prédiabétique/physiopathologie , Pronostic , Résultat thérapeutiqueRÉSUMÉ
OBJECTIVE: Atrial fibrillation (AF) is the recognized risk factor for hemorrhagic transformation (HT) in thrombolysis patients with acute ischemic stroke (AIS). But the impact of AF on prognosis is still controversial. In our study, we aimed to assess the relationship between AF and HT and prognosis. METHODS: We assessed 184 patients diagnosed with AIS and received thrombolysis from January 2016 to October 2017. Based on the imaging results during hospitalization, the patients were divided into HT and non-HT groups in which the HT was containing 40 patients. According to the modified Rankin Scale (mRS), we divided the patients into favorable prognosis (mRS score of 0-2) and the poor (mRS score >2) after 3 and 6 months of follow-up. Our analysis included demographics, onset to treatment time, initial blood pressure, baseline National Institutes of Health Stroke Scale (NIHSS) score, HT, anticoagulants, AF, smoking, and other past history. RESULTS: At baseline, there was a significant difference (p < 0.05) between the HT and non-HT groups in the level of age, hyperlipidemia, AF, NIHSS, and the application of anticoagulants. After 3 and 6 months of follow-up, we found that only NIHSS (OR3 month 1.421, 95% CI 1.280-1.578, p < 0.001, and OR6 month 1.326, 95% CI 1.217-1.445, p < 0.001) was associated with prognosis instead of AF, HT, and anticoagulants. Meanwhile, patients with AF tended to be older, higher NIHSS score and less hyperlipidemia (p < 0.05). CONCLUSION: The present study indicated that there is no significant correlation between AF and prognosis, although there is some indeed related with HT. That was, the prognosis with AF had a similar response trend compared with the non-AF.
Sujet(s)
Fibrillation auriculaire/complications , Hémorragie cérébrale/étiologie , Accident vasculaire cérébral/complications , Sujet âgé , Sujet âgé de 80 ans ou plus , Anticoagulants/usage thérapeutique , Hémorragie cérébrale/épidémiologie , Femelle , Humains , Mâle , Adulte d'âge moyen , Pronostic , Études rétrospectives , Facteurs de risque , Accident vasculaire cérébral/traitement médicamenteuxRÉSUMÉ
BACKGROUND: The purpose of this study was to analyze the risk factors of hemorrhagic transformation (HT) after intravenous thrombolysis using a recombinant tissue plasminogen activator (r-tPA) in acute ischemic stroke (AIS). METHODS: We included 199 consecutive patients in the First Affiliated Hospital of Wenzhou Medical University from January 2016 to October 2017 with a diagnosis of AIS. The patients were divided into 2 groups: HT and non-HT. The related risk factors were recruited before and after receiving r-tPA thrombolysis. RESULTS: Using univariate analysis, we found that there was a significant difference between the HT and non-HT group (P < .05) in the level of age, atrial fibrillation, baseline National Institute of Health Stroke Scale (NIHSS) score and NIHSS score after 2 hours of thrombolytic therapy, hyperlipidemia. Multivariate logistic regression analysis indicated that NIHSS score after 2 hours of thrombolytic therapy (odds ratio [OR]â¯=â¯1.091, 95% confidence interval [CI] = 1.015-1.173 Pâ¯=â¯.018) and atrial fibrillation (ORâ¯=â¯2.188, 95%CI â¯=â¯1.024-4.672 Pâ¯=â¯.043) are the risk factors of HT. CONCLUSIONS: NIHSS score after 2 hours of thrombolytic therapy and atrial fibrillation were risk factors for HT after thrombolysis. Age (ORâ¯=â¯1.022, 95%CI = .988-1.056 Pâ¯=â¯.205), Hyperlipidemia (ORâ¯=â¯.591, 95%CI = .29-1.206 Pâ¯=â¯.148), and Baseline NIHSS score (ORâ¯=â¯.998, 95%CI = .914-1.089 Pâ¯=â¯.043) were not significant independent predictors but showed an association with HT. These 5 factors should be carefully taken into account.
Sujet(s)
Encéphalopathie ischémique/épidémiologie , Hémorragie cérébrale/épidémiologie , Accident vasculaire cérébral/épidémiologie , Sujet âgé , Encéphalopathie ischémique/traitement médicamenteux , Encéphalopathie ischémique/physiopathologie , Hémorragie cérébrale/physiopathologie , Évolution de la maladie , Femelle , Fibrinolytiques/usage thérapeutique , Humains , Hyperlipidémies/épidémiologie , Mâle , Adulte d'âge moyen , Protéines recombinantes/usage thérapeutique , Facteurs de risque , Accident vasculaire cérébral/traitement médicamenteux , Accident vasculaire cérébral/physiopathologie , Traitement thrombolytique , Activateur tissulaire du plasminogène/usage thérapeutiqueRÉSUMÉ
BACKGROUND: Stroke is the leading cause of death and long-term disability. This study was undertaken to investigate the factors influencing daily activities of patients with cerebral infarction so as to take interventional measures earlier to improve their daily activities. METHODS: A total of 149 patients with first-episode cerebral infarction were recruited into this prospective study. They were admitted to the Encephalopathy Center, Department of Neurology, the First Affiliated Hospital of Wenzhou Medical College in Zhejiang Province from August 2008 to December 2008. The baseline characteristics of the patients and cerebral infarction risk factors on the first day of admission were recorded. White blood cell (WBC) count, plasma glucose (PG), and many others of laboratory targets were collected in the next morning. Barthel index (BI) was calculated at 2 weeks and 3 months respectively after onset of the disease at the outpatient clinic or by telephone call. Lung infection, urinary tract infection and atrial fibrillation if any were recorded on admission. The National Institute of Health Stroke Scale (NIHSS) scores and the GCS scores were recorded within 24 hours on and after admission, at the second week, and at the third month after the onset of cerebral infarction respectively. RESULTS: The factors of BI at 2 weeks and 3 months after onset were the initial PG level, WBC count and initial NIHSS scores. Besides, urinary tract infection on admission was also the factor for BI at 3 months. CONCLUSION: Active measures should be taken to control these factors to improve the daily activities of patients with cerebral infarction.