Analysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson's Disease

MethodsWe performed a gene-dosage analysis of PARK2 using real-time polymerase chain reaction for 189 patients with early-onset PD or familial PD, and 191 control individuals. In the case of PD patients with heterozygous gene-dosage mutation, we performed a sequencing analysis to exclude compound heterozygous mutations. The association between heterozygous mutation of PARK2 and PD was tested.ResultsWe identified 22 PD patients with PARK2 mutations (11.6%). Five patients (2.6%) had compound heterozygous mutations, and 13 patients (6.9%) had a heterozygous mutation. The phase could not be determined in one patient. Three small sequence variations were found in 30 mutated alleles (10.0%). Gene-dosage mutation accounted for 90% of all of the mutations found. The frequency of a heterozygous PARK2 gene-dosage mutation was higher in PD patients than in the controls.ConclusionsHeterozygous gene-dosage mutation of PARK2 is a genetic risk factor for patients with early-onset or familial PD in Koreans.     

Sleep Problems Associated with Behavioral and Psychological Symptoms as Well as Cognitive Functions in Alzheimer's Disease

Background and Purpose

It has been shown that sleep problems in Alzheimer''s disease (AD) are associated with cognitive impairment and behavioral problems. In fact, most of studies have founded that daytime sleepiness is significantly correlated with cognitive decline in AD. However, a few studies have also shown that nighttime sleep problems are associated with cognitive function and behavioral symptoms in AD. Accordingly, the aim of this study was to evaluate the effects of nighttime sleep on cognition and behavioral and psychological symptoms of dementia (BPSD) in AD.

Methods

The study population comprised 117 subjects: 63 AD patients and 54 age- and sex-matched non-demented elderly subjects. Detailed cognitive functions and behavioral symptoms were measured using the Seoul Neuropsychological Screening Battery (SNSB) and the Korean version of the Neuropsychiatric Inventory (NPI-K). Sleep characteristics were evaluated using the Korean version of the Pittsburgh Sleep Quality Index (PSQI-K). The correlations between PSQI-K and SNSB scores and between PSQI-K and NPI-K scores were analyzed.

Results

In AD patients, sleep latency was found to be negatively correlated with praxis (p=0.041), Rey-Osterrieth Complex Figure Test (RCFT) immediate recall (p=0.041), and RCFT recognition (p=0.008) after controlling for age and education, while sleep duration and sleep efficiency were positively correlated with praxis (p=0.034 and p=0.025, respectively). Although no significant correlation was found between PSQI-K and NPI-K scores, sleep disturbance and total PSQI-K scores were found to be significantly associated with apathy/indifference in AD.

Conclusions

Sleep problems such as prolonged sleep duration, sleep latency, and poor sleep efficiency in AD patients were correlated with cognitive dysfunction, and especially frontal executive and visuospatial functions, and BPSD. These findings suggest that treatment of nighttime sleep problems might improve cognition and behavioral symptoms in AD patients.     

Psychosocial,Physical, and Autonomic Correlates of Depression in Korean Adults: Results from a County-Based Depression Screening Study

Objective

We aimed to investigate the prevalence and psychosocial and neurophysiological correlates of depression in a large county-based cohort of Korean adults.

Methods

We recruited 2355 adults from a rural county-based health promotion program. The following psychometric scales were used: the Center for Epidemiologic Studies Depression scale (CES-D) was used to assess depression, the General Health Questionnaire (GHQ) was used to evaluate stress, and the Medical Outcome Study Social Support Survey (MOS-SSS) was used to determine perceived social support. Heart rate variability (HRV) was used to assess neurophysiological properties. The psychosocial and neurophysiological variables of adults with depression (CES-D score ≥25) and without depression (CES-D score <25) were statistically compared. A logistic regression model was constructed to identify factors independently associated with depression.

Results

We estimated that 17.7% of the subjects had depression, which was associated with old age, being female, being single, less religious affiliation, high education, low body mass index (BMI), low levels of aerobic exercise, low social support, and a low HRV triangular index. The explanatory factors of depression included high education, less religious affiliation, low levels of current aerobic exercise, low BMI, and low social support.

Conclusion

Given the relatively high prevalence of overall depression, subsyndromal depression should also be regarded as an important issue in screening. The independent factors associated with depression suggest that practical psychosocial intervention, including brief psychotherapy, aerobic exercise, and other self-help methods should be considered. In addition, the HRV results suggest that further depression screening accompanied by neurophysiological features would require fine methodological modifications with proactive efforts to prevent depressive symptoms.     

Does Magnifying Narrow-Band Imaging or Magnifying Chromoendoscopy Help Experienced Endoscopists Assess Invasion Depth of Large Sessile and Flat Polyps?

Background

Distinguishing deep submucosa (SM) from superficial SM cancer in large sessile and flat colorectal polyps (>2 cm) is crucial in making the most appropriate therapeutic decision. We evaluated the additional role of magnifying narrow-band imaging (NBI) and magnifying chromoendoscopy (MCE) in assessing the depth of invasion in large sessile and flat polyps in comparison to morphological evaluation performed by experienced endoscopists.

Methods

From May 2011 to December 2011, a total of 85 large sessile and flat polyps were analyzed. Endoscopic features of the polyps were independently evaluated by experienced endoscopists. Subsequently, the polyps were observed using magnifying NBI and MCE.

Results

A total of 58 intramucosal lesions and 27 SM cancers (five superficial and 22 deep) were identified. The diagnostic accuracy of the experienced endoscopists, NBI, and MCE were 92.9, 90.6, and 89.4 %, respectively, for deep SM cancer. In combination with NBI or MCE, the diagnostic accuracy of the experienced endoscopists did not change significantly for deep SM cancer, with an accuracy of 95.3 % for both NBI and MCE.

Conclusions

Conventional colonoscopy can differentiate superficial from deep SM cancers with an accuracy of as high as 92.9 % in large sessile and flat polyps. Further diagnostic strategies are required in order to precisely assess the depth of invasion, especially in large colorectal polyps.     

Early Oral Antibiotic Switch Compared with Conventional Intravenous Antibiotic Therapy for Acute Cholangitis with Bacteremia

Background

Biliary decompression with antibiotic therapy is the mainstay treatment for acute cholangitis with bacteremia. A few studies have been conducted to investigate the optimal duration and route of antibiotic therapy in biliary tract infection with bacteremia.

Methods

Patients with acute cholangitis with bacteremia who achieved successful biliary drainage were randomly assigned to an early oral antibiotic switch group (group A, n = 29) and a conventional intravenous antibiotics group (group B, n = 30). Patients were discharged when they were afebrile over 2 days after oral antibiotic switch and showed consecutive improvement in the laboratory index. They were followed up and assessed at 30 days after diagnosis to evaluate the eradication of bacteria, recurrence of acute cholangitis, and 30-day mortality rate.

Results

There were no statistically significant differences between the two groups in baseline characteristics, clinical and laboratory index, severity of acute cholangitis, bacteria isolated from blood cultures, and clinical outcomes. The rate of eradication of bacteria was 93.1 % in group A and 93.3 % in group B, respectively (p = 0.97). Using non-inferiority tests, the rate of eradication of bacteria in group A was not inferior to that in group B (95 % CI ?0.13 to 0.14, p = 0.97). There was no statistically significant difference in the recurrence of acute cholangitis and a 30-day mortality rate between the two groups.

Conclusions

Early switch to oral antibiotic therapy following adequate biliary drainage for treatment of acute cholangitis with bacteremia was not inferior to conventional 10-day intravenous antibiotic therapy.