The c.G4883C variant in the
leucine-rich repeat kinase 2
(
LRRK2
) gene (protein effect: Arg1628Pro) has been recently proposed as a second risk factor for sporadic Parkinson’s disease in the Han ...Chinese population (after the Gly2385Arg variant). In this paper, we analyze the Arg1628Pro variant and the associated haplotype in a large sample of 1,337 Han subjects (834 patients and 543 controls) ascertained from a single referral center in Taiwan. In our sample, the Arg1628Pro allele was more frequent among patients (3.8%) than among controls (1.8%;
p
= 0.004, OR 2.13, 95% CI 1.29–3.52). Sixty heterozygous and two homozygous carriers of the Arg1628Pro variant were identified among the patients, of which only one was also a carrier of the
LRRK2
Gly2385Arg variant. We also show that carriers of the Arg1628Pro variant share a common, extended haplotype, suggesting a founder effect. Parkinson’s disease onset age was similar in patients who carried the Arg1628Pro variant and in those who did not carry it. Our data support the contention that the Arg1628Pro variant is a second risk factor for Parkinson’s disease in the Han Chinese population. Adding the estimated effects of Arg1628Pro (population attributable risk PAR ~4%) and Gly2385Arg variants (PAR ~6%) yields a total PAR of ~10%.
Background/Purpose Despite provision of free-of-charge human immunodeficiency virus (HIV) care and antiretroviral therapy in Taiwan, a substantial proportion of patients experience late HIV ...diagnosis. We investigated the risk factors for late HIV diagnosis in Taiwan. Methods Structured interviews were conducted among newly diagnosed HIV-infected patients to collect data on demographics, socio-behavioral variables and clinical profiles within 1 year preceding HIV diagnosis from August 2006 to July 2008. Multivariate analysis was performed to identify factors associated with missed opportunities for HIV testing and late HIV diagnosis (< 200 CD4 cells/μL). Results Among 227 newly diagnosed HIV-infected patients, 107 (47%) had late HIV diagnosis. Patients who had first positive tests for HIV at voluntary testing sites odds ratio (OR): 0.22; 95% confidence interval (CI): 0.10–0.50, regular sexual partners at HIV diagnosis (OR: 0.30; 95% CI: 0.14–0.68), and unprotected sex in the preceding 3 months (OR: 0.16; 95% CI: 0.07–0.34) were less likely to have late HIV diagnosis. Missed opportunities for HIV testing after seeking medical attention occurred in 47 patients (20.7%) and were more common in patients with late HIV diagnosis than in those who received an earlier diagnosis (23.0% vs. 15.8%, p = 0.03). Patients with late HIV diagnosis were more likely than their counterparts to have received a diagnosis of seborrheic dermatitis (7.4% vs. 0.8%, p = 0.02) and community-acquired pneumonia (5% vs. 0%, p = 0.02), for which HIV testing was not offered by the health care providers. Conclusion Late HIV diagnosis is not uncommon in Taiwan. Regular risk assessment and provision of routine HIV testing in medical encounters and increase of accessibility to voluntary HIV testing could facilitate earlier diagnosis of HIV infection.
BACKGROUND/OBJECTIVES: Docosahexaenoic acid (DHA), an n-3 long chain polyunsaturated fatty acid (LCPUFA), is acquired by dietary intake or the in vivo conversion of ${\alpha}$-linolenic acid. Many ...enzymes participating in LCPUFA synthesis are regulated by peroxisome proliferator-activated receptor alpha ($PPAR{\alpha}$). Therefore, it was hypothesized that the tissue accretion of endogenously synthesized DHA could be modified by $PPAR{\alpha}$. MATERIALS/METHODS: The tissue DHA concentrations and mRNA levels of genes participating in DHA biosynthesis were compared among $PPAR{\alpha}$ homozygous (KO), heterozygous (HZ), and wild type (WT) mice (Exp I), and between WT mice treated with clofibrate ($PPAR{\alpha}$ agonist) or those not treated (Exp II). In ExpII, the expression levels of the proteins associated with DHA function in the brain cortex and retina were also measured. An n3-PUFA depleted/replenished regimen was applied to mitigate the confounding effects of maternal DHA. RESULTS: $PPAR{\alpha}$ ablation reduced the hepatic Acox, Fads1, and Fads2 mRNA levels, as well as the DHA concentration in the liver, but not in the brain cortex. In contrast, $PPAR{\alpha}$ activation increased hepatic Acox, Fads1, Fads2, and Elovl5 mRNA levels, but reduced the DHA concentrations in the liver, retina, and phospholipid of brain cortex, and decreased mRNA and protein levels of the brain-derived neurotrophic factor in brain cortex. CONCLUSIONS: LCPUFA enzyme expression was altered by $PPAR{\alpha}$. Either $PPAR{\alpha}$ deficiency or activation-decreased tissue DHA concentration is a stimulus for further studies to determine the functional significance.
To assess the incidence of acute pancreatitis in human immunodeficiency virus-positive patients with triglyceride (TG) greater than 500 mg/dL after highly active antiretroviral therapy.
Sequential TG ...levels during follow-up and episodes of acute pancreatitis were retrospectively reviewed in 347, 417, and 571 patients enrolled in periods 1 (2000-2002), 2 (2003-2005), and 3 (2006-2008), respectively. The incidence of acute pancreatitis, defined as consistent clinical symptoms and elevated amylase and/or lipase levels, was estimated.
A total of 5356 TG measurements were performed during the follow-up for 698.22, 884.14, and 1215.69 person-years in periods 1, 2, and 3, respectively. Overall, 9.89% of patients had at least one TG greater than 500 mg/dL. Five patients with TG less than 500 mg/dL developed acute pancreatitis. The crude incidences of acute pancreatitis were 0.6%, 0.5%, and 0.2%, and the incidence rates were 2.86, 2.26, and 0.82/1000 person-years in periods 1, 2 and 3, respectively (all, P > 0.05). The incidence rates of acute pancreatitis when TG levels were less than 500, less than 1000, and less than 1500 mg/dL ranged from 1.2 to 4.9/1000 person-years, whereas it was 0/1000 person-years when TG levels were greater than 500, greater than 1000, and greater than 1500 mg/dL, respectively.
The risk of acute pancreatitis was low among human immunodeficiency virus-positive patients who developed hypertriglyceridemia after receiving highly active antiretroviral therapy.
Summary Objectives To retrospectively determine the prevalence of anti-hepatitis A virus (HAV) antibody in HIV-positive persons with different routes of HIV exposure and to describe its ...characteristics in order to guide vaccination policy. Methods The prevalence of anti-HAV antibody was compared between 1580 HIV-positive persons seeking medical attention and 2581 HIV-negative controls seeking health check-ups, who had undergone anti-HAV tests between 2004 and 2007. Comparisons were also made among groups of the HIV-positive patients who had acquired HIV via different routes of transmission. A multivariate logistic regression model was built to identify independent variables associated with anti-HAV seropositivity. Results The overall prevalence of anti-HAV antibody was 60.9% in the HIV-positive and 48.0% in the controls ( p < 0.001). The overall adjusted odds ratio (AOR) for positive anti-HAV antibody was 2.604 (95% confidence interval (CI) 2.106–3.219) in HIV-positive persons compared with HIV-negative persons. In addition, HIV-positive men who have sex with men (MSM), heterosexuals, and injecting drug users (IDU) all had significantly higher AOR for positive anti-HAV antibody than HIV-negative persons. In HIV-positive persons, older age (AOR 1.284, 95% CI 1.246–1.322) and IDU (AOR 5.137, 95% CI 3.499–7.542) were independently associated with an increased prevalence of anti-HAV antibody. Nearly 90% of the IDU had become seropositive for HAV after age 36–40 years, compared with heterosexuals and MSM after age 46–50 years, and controls after age 51–55 years. Conclusion Our findings suggest that age groups to be targeted for HAV vaccination vary with the different routes of HIV exposure.
Abstract We report three novel deletions of the SGCE gene in three families with myoclonus–dystonia (M–D) syndrome in Taiwan. Their clinical characteristics included: early onset, dominant myoclonus ...and dystonia in the neck, trunk and upper limbs. By direct sequencing of the SGCE gene coding regions, we identified a small heterozygous deletion (c.842delA) in exon 7 of the three sibs and asymptomatic father in the first family and an eight-base heterozygous deletion (c.524_531del) in exon 5 of the mother and a daughter in the second family. Using multiple ligation-dependent probe amplification (MLPA), a large heterozygous deletion of 2–11 exons was identified in the father and a son in the third family which was undetected by initial sequencing. It is the largest intragenic deletion ever reported. In conclusion, we have identified three novel mutations of SGCE in the respective three M–D families. The large deletion was responsible for one third of these M–D families which might implicate an important contribution to Taiwanese M–D syndrome. We suggest that the contribution of large deletion should be further verified in a large cohort of patients with M–D syndrome in Han Chinese.
Summary Background Mycobacterium avium complex (MAC) often causes disseminated infection in patients at an advanced stage of HIV infection; however, peritonitis associated with disseminated MAC ...infection is rare. Methods In this report, we describe five cases of MAC peritonitis in AIDS patients at our hospital, and analyze these cases alongside 11 previously published cases found in the literature. Results Most of the AIDS patients with MAC peritonitis had CD4 counts of <50 cells/μl and elevated alkaline phosphatase levels. Other than ascites, MAC was also isolated from other sterile and non-sterile sites. Of note, six patients (37.5%) presented with chylous ascites. Conclusions Despite therapy, MAC peritonitis is associated with a grave outcome.
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