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1.
PNPLA3 gene polymorphism and response to lifestyle modification in patients with nonalcoholic fatty liver disease
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2.
Ngai-Yin Chan Chi-Chung Choy Ho-Chuen Yuen Hoi-Fan Chow Ho-Fai Fong 《The Canadian journal of cardiology》2019,35(4):396-404
Background
Persistent iatrogenic atrial septal defect (iASD) is a common but poorly characterized complication after cryoballoon (CB) pulmonary vein isolation (PVI) procedures. We therefore investigate its prevalence, evolution, risk factors, and clinical outcomes in a prospective longitudinal study.Methods
A total of 108 patients (41 women, mean age 57 ± 11.3) underwent CB PVI for AF. Serial transesophageal echocardiography (TEE) was performed 9 months and then annually until 6 years after the procedure to study the characteristics of persistent iASD.Results
Persistent iASD occurred in 33 (30.6%) patients 9 months after CB PVI. Spontaneous closure of iASD was found in 6 (22.2%) and 3 (15.8%) patients 2 and 3 years after the procedures, respectively. No spontaneous closure was observed on 4, 5, and 6-year TEE follow-up. The projected long-term persistence rate of iASD after CB PVI was therefore 20% (30.6% × 0.778 × 0.842). Using multivariate logistic regression, a higher number of cryoapplications (≥ 2 minutes) was the only independent predictor of persistent iASD 9 months after CB PVI (odds ratio [OR] 1.207; 95% confidence interval [CI], 1.033-1.411, P = 0.018). Two (1.9%) patients with significantly larger iASD size than the others (long diameter 12.6 ± 0.8 vs 3.7 ± 1.5 mm, P < 0.001; short diameter 10.9 ± 0.2 vs 3 ± 1.1 mm, P < 0.001) required percutaneous closure because of exertional dyspnea and right ventricular enlargement. Over 129.7 patient-years follow-up, during which iASD persisted, there was no occurrence of neurologic events.Conclusions
Approximately one fifth of patients undergoing CB PVI will have permanently persistent iASD. Patients with defect sizes of greater than 10 mm may need percutaneous closure due to significant left-to-right shunting. 相似文献3.
4.
PINK1 mutations in sporadic early-onset Parkinson's disease. 总被引:5,自引:0,他引:5
Eng-King Tan Kenneth Yew Eva Chua K Puvan Hui Shen Esther Lee Kim-Yoong Puong Yi Zhao Ratnagopal Pavanni Meng-Cheong Wong Dominic Jamora Deidre de Silva Kyaw-Thu Moe Fung-Peng Woon Yih Yuen Louis Tan 《Movement disorders》2006,21(6):789-793
Pathogenic PINK1 mutations have been described in PARK6-linked Parkinson's disease (PD) patients of Asian origin. However, data on the frequency of PINK1 mutations in sporadic early-onset Parkinson's disease (EOPD) Asian patients are lacking. The objectives of this study were to report the frequency of PINK1 mutations of sporadic EOPD in an Asian cohort comprising of ethnic Chinese, Malays, and Indians, and to highlight a PINK1-positive patient who presented with restless legs symptoms. Eighty consecutive sporadic EOPD patients from the movement disorder clinics of two major tertiary institutions in the country were included. We performed sequence analysis of all the coding and exon-intron junctions of the PINK1 using specific primer sets. In addition, we genotyped polymorphisms detected from the analysis in a group of sporadic PD patients and controls. Three different mutations (two homozygous nonsense and one heterozygous missense) in the putative kinase domain were found in three patients, giving a 3.7% frequency of PINK1 mutations in our EOPD cohort. All the mutations were absent in 200 healthy controls. One patient with a novel homozygous nonsense PINK1 mutation presented unusually with restless legs symptoms. Separately, analysis of the frequency of four PINK1 polymorphisms in a group of sporadic PD and controls did not reveal any significant differences. We highlight a 3.7% frequency of PINK1 mutations in an Asian cohort (ethnic Chinese, Malay, and Indian) of EOPD. The phenotypic spectrum associated with PINK1-positive patients may be wider than previously reported. Polymorphisms of PINK1 do not appear to modulate risk of PD in our population. 相似文献
5.
Bone mineral density testing in healthy postmenopausal women. The role of clinical risk factor assessment in determining fracture risk. 总被引:5,自引:0,他引:5
William D Leslie Colleen Metge Elizabeth A Salamon C Kin Yuen 《Journal of clinical densitometry》2002,5(2):117-130
The ease of measurement and the quantitative nature of bone mineral densitometry (BMD) is clinically appealing. Despite BMD's proven capability to stratify fracture risk, data indicate that clinical risk factors provide complementary information on fracture susceptibility that is independent of BMD. Methods to quantify fracture risk using both clinical and BMD variables would have great appeal for clinical decision-making. We describe a procedure for quantifying hip fracture risk (5-yr and remaining lifetime) based on (1) the individual's age alone (base model, assuming average clinical risk factors and bone density), (2) incorporation of multiple patient-specific clinical risk factor data in the base model, and (3) incorporation of both patient-specific clinical risk factor data and BMD results. 相似文献
6.
G Gaitanis K Nomikos E Vava EC Alexopoulos ID Bassukas 《Journal of the European Academy of Dermatology and Venereology》2009,23(12):1427-1431
Background/aim Theoretical considerations support the combination of cryosurgery and topical imiquimod to treat basal cell carcinomas (BCC). The aim of the present study was to test the feasibility and efficacy of 'cryosurgery during continued imiquimod application' ('immunocryosurgery') to treat 'high-risk-for-recurrence' BCCs.
Methods Thirteen patients with 21 biopsy-proven tumours (4 of 21 relapses after prior surgery) were included. After 2–5 weeks (median, 3) of daily 5% imiquimod cream application, the tumours were treated by liquid N2 cryosurgery (spray, two cycles, 10–20 s) and imiquimod was continued for additional 2–12 weeks (median, 4). The outcome after at least 18 months of follow-up (18–24 months) is currently reported.
Results Nineteen of 21 tumours responded promptly to immunocryosurgery; two tumours required additional treatment cycles to clear. Thus, the clinical clearance rate was 100%. Only 1 of 21(5%) tumour relapsed after at least 18 months of follow-up (cumulative efficacy: 95%).
Conclusions 'Immunocryosurgery' is a promising non-surgical combination modality to treat 'high-risk-for-recurrence BCCs'. Initial evidence is suggestive of an at least additive effect of the two combined modalities. Further studies comparing immunocryosurgery directly with cryosurgery and imiquimod monotherapies will confirm the reported results. 相似文献
Methods Thirteen patients with 21 biopsy-proven tumours (4 of 21 relapses after prior surgery) were included. After 2–5 weeks (median, 3) of daily 5% imiquimod cream application, the tumours were treated by liquid N
Results Nineteen of 21 tumours responded promptly to immunocryosurgery; two tumours required additional treatment cycles to clear. Thus, the clinical clearance rate was 100%. Only 1 of 21(5%) tumour relapsed after at least 18 months of follow-up (cumulative efficacy: 95%).
Conclusions 'Immunocryosurgery' is a promising non-surgical combination modality to treat 'high-risk-for-recurrence BCCs'. Initial evidence is suggestive of an at least additive effect of the two combined modalities. Further studies comparing immunocryosurgery directly with cryosurgery and imiquimod monotherapies will confirm the reported results. 相似文献
7.
Overview of the Clinical Efficacy of Lamotrigine 总被引:5,自引:4,他引:1
Summary: Testing the efficacy of lamotrigine (LTG) in epileptic patients has been approached in several ways. The first pilot study examined the effect of a single dose of LTG in patients with frequent interictal spikes, and a reduction in spike frequency was observed. Subsequently, single doses reduced photosensitivity in appropriate patients. Single-blind administration of LTG for 1 week in addition to the patients' regular antiepileptic drugs (AEDs), in patients with refractory seizures, reduced seizures despite the short duration of therapy. This regimen was continued using a placebo-controlled crossover study with 1-week duration of treatment. Efficacy in partial and tonic-clonic seizures was subsequently confirmed in four double-blind crossover studies; a meta-analysis of these four studies showed a 30% reduction in partial seizures despite the intractable nature of the seizures in the patients included. Current studies aim at evaluating the drug as monotherapy and in different seizure types. 相似文献
8.
Objective: Two major changes have occurred in inguinal hernia repair during the last two decades: (i) the use of tension‐free mesh repair; and (ii) the application of laparoscopic technique for repair. The aims of the present study were to study: (i) how inguinal hernia repair was carried out; and (ii) the outcome of inguinal hernia repair in Hospital Authority (HA) hospitals. Methodology: This was a retrospective analysis on 8311 elective inguinal hernia repairs performed in 16 HA hospitals from January 2001 to December 2003. The mean age was 63.9 ± 14.2 years, and the male to female ratio was 22.0 : 1.0. Among these, 869 (10.5%) repairs were performed with the laparoscopic approach and 7442 (89.5%) repairs with the open approach. The proportion of laparoscopic hernia repair increased from 8.7% to 12.6%. Results: For open repair, 39% of cases were carried out with regional anaesthesia, 32% with general anaesthesia and 29% with local anaesthesia (LA). Furthermore, mesh repair was used in 88% of the patients. For laparosocpic repair, 98.4% of cases were carried out under general anaesthesia, and all patients had mesh repair using the totally extraperitoneal approach. A significantly higher proportion of bilateral repair and recurrent hernia repair was performed with the laparoscopic approach (P = 0.000). For primary unilateral repair, there was no significant difference in the postoperative length of stay (LOS) and the total LOS between the laparoscopic and the open surgery groups. No difference in LOS was found in recurrent hernia repair between the two groups. With respect to bilateral repair, both the preoperative LOS (P = 0.036) and total LOS (P = 0.039) were shorter in the laparoscopic group. Furthermore, a significantly higher proportion of day‐surgery patients was observed in the laparoscopic group than the open surgery group (21.3%vs 16.9%, P = 0.001). Nevertheless, when only the results of 2003 were analyzed, the postoperative LOS (P = 0.000) and total LOS (P = 0.000) were significantly shorter in the laparoscopic group than the open surgery group. The LOS parameters were significantly shorter in the open surgery LA subgroup compared with the non‐LA subgroup (P = 0.000), and they were not different from those in the laparoscopic group. Conclusions: The open mesh repair is the predominant approach for inguinal hernia repair in HA hospitals. The originally described local anaesthetic approach was under utilized, although it resulted in good outcome. The use of laparoscopic hernia repair is increasing and a learning curve was recently observed with improved outcome. 相似文献
9.
TF Leung WC Tsoi CK Li KW Chik MMK Shing PMP Yuen 《Acta paediatrica (Oslo, Norway : 1992)》1998,87(6):705-777
We describe a 15-y-old girl with Fechtner-like syndrome, who is the first Chinese reported to have this rare syndrome. She presented with left homonymous hemianopia and neuroimaging revealed haemorrhage in both parietal and occipital lobes. Peripheral blood smear showed macrothrombocytopenia and intracytoplasmic inclusion bodies inside leucocytes. Thrombocytopenia and proteinuria responded to intravenous immunoglobulin and pulsed methylprednisolone. This case illustrates that life-threatening haemorrhage can occur in patients with Fechtner syndrome. Although there was no effective treatment reported in the literature, high dose steroid and immunoglobulin seemed to be useful in our patient. Our patient also had nephritic-nephrotic syndrome with renal insufficiency, which is unusual in adolescent female patients. 相似文献
10.
Serum and Cerebrospinal Fluid Pharmacokinetics of Intravenous and Oral Lamivudine in Human Immunodeficiency Virus-Infected Children 总被引:3,自引:3,他引:0
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Brigitta U. Mueller Linda L. Lewis Geoffrey J. Yuen Maureen Farley Amy Keller Joseph A. Church Jonathan C. Goldsmith David J. Venzon Marc Rubin Philip A. Pizzo Frank M. Balis 《Antimicrobial agents and chemotherapy》1998,42(12):3187-3192
We studied the pharmacokinetics of intravenously and orally administered lamivudine at six dose levels ranging from 0.5 to 10 mg/kg of body weight in 52 children with human immunodeficiency virus infection. A two-compartment model with first-order elimination from the central compartment was simultaneously fitted to the serum drug concentration-time data obtained after intravenous and oral administration. The maximal concentration at the end of the 1-h intravenous infusion and the area under the concentration-time curve after oral and intravenous administration increased proportionally with the dose. The mean clearance of lamivudine (± standard deviation) in the children was 0.53 ± 0.19 liter/kg/h (229 ± 77 ml/min/m2 of body surface area), and the mean half-lives at the distribution and elimination phases were 0.23 ± 0.18 and 2.2 ± 2.1 h, respectively. Clearance was age dependent when normalized to body weight but age independent when normalized to body surface area. Lamivudine was rapidly absorbed after oral administration, and 66% ± 25% of the oral dose was absorbed. Serum lamivudine concentrations were maintained above 1 μM for ≥8 h of 24 h on the twice daily oral dosing schedule with doses of ≥2 mg/kg. The cerebrospinal fluid drug concentration measured 2 to 4 h after the dose was 12% (range, 0 to 46%) of the simultaneously measured serum drug concentration. A limited-sampling strategy was developed to estimate the area under the concentration-time curve for concentrations in serum at 2 and 6 h. 相似文献