A Study on the Psychosocial Characteristics and Quality of Life in Functional Gastrointestinal Disorders / 정신신체의학

OBJECTIVES: This study aimed to compare the psychosocial characteristics among patients with functional gastrointestinal disorder (FGID), adults with functional gastrointestinal symptoms, and normal control group and investigate factors related to quality of life (QoL) of FGID patients. METHODS: 65 patients diagnosed with FGID were selected. 79 adults were selected as normal control group based on the Rome III diagnostic criteria, and 88 adults who showed functional gastrointestinal symptoms were selected as “FGID positive group”. Demographic factors were investigated. Psychosocial factors were evaluated using the Korean-Beck Depression Inventory-II, Korean-Beck Anxiety Inventory, Korean-Childhood Trauma Questionnaire, Multi-dimensional Scale of Perceived Social Support, Connor-Davidson Resilience Scale and WHO Quality of Life Assessment Instrument Brief Form. A one-way ANOVA was used to compare differences among groups. Pearson correlation test was used to analyze correlations between QoL and psychosocial factors in patients with FGID. RESULTS: There were group differences in the education level. Depression (F=29.012, p<0.001), anxiety (F=27.954, p<0.001) and Childhood trauma (F=7.748, p<0.001) were significantly higher in FGID patient group than in both FGID-positive and normal control group. Social support (F=5,123, p<0.001), Resilience (F=9.623, p<0.001) and QoL (F=35.991, p<0.001) were significantly lower in the FGID patient group than in others. QoL of FGID patients showed a positive correlation with resilience (r=0.475, p<0.01), and showed a negative correlation with depression (r=−0.641, p<0.01), anxiety (r=−0.641, p<0.01), and childhood trauma (r=−0.278, p<0.05). CONCLUSIONS: FGID patients have distinctive psychosocial factors compared to the both FGID-positive and normal control group. Therefore, the active interventions for psychosocial factors are required in the treatment of patients with FGID.

Quality Improvement Activities to Facilitate the Filing of Complexity Payment Claims for Patients with Malnutrition

PURPOSE: The grade of complexity in the diagnosis related group (DRG) payment system is influenced by the secondary diagnosis of specific complication and comorbidity level, in which moderate or severe malnutrition is included. This study examined an existing proportion of patients with malnutrition who were supposed to be qualified for the complexity level and devised quality improvement measures to increase the proportion of qualifying complexity payments. METHODS: The goal of the activities was to increase the rate of complexity payment claims for patients with malnutrition (%). Cases ineligible for the DRG payment system and cases with no diagnosis of malnutrition were excluded. We established a collaborative system between the nutrition support team and departments related to each improvement factor (i.e., patient care, medical records, insurance review, and medical information). RESULTS: Before implementing the activities, this study investigated the current level of complexity payment claims for malnutrition patients who were discharged within a specific period (June 1, 2015~August 31, 2015). The results showed that complexity payment claims were filed in 10.00% (2 of the 20 malnutrition cases). After the activities, the rate of complexity payment claims for the patients with malnutrition within the study period (June 1, 2016~August 31, 2016) was 46.43% (26 out of 56), showing an approximately 364% increase from the pre activity rate. This change was statistically significant according to the chi-square test on Microsoft Excel 2010 (P < 0.01). CONCLUSION: Collaborative efforts by the related departments enabled the smooth implementation of each activity. In addition, moderate or severe malnutrition was revealed to be a variable in the complexity-specific payment system. In the future, hospital-wide awareness and effort are crucial to promot the steady practice of these activities and expand their implementation.

Whole-Genome Analysis in Korean Patients with Autoimmune Myasthenia Gravis

PURPOSE: The underlying cause of myasthenia gravis (MG) is unknown, although it likely involves a genetic component. However, no common genetic variants have been unequivocally linked to autoimmune MG. We sought to identify the genetic variants associated with an increased or decreased risk of developing MG in samples from a Korean Multicenter MG Cohort. MATERIALS AND METHODS: To determine new genetic targets related to autoimmune MG, a whole genome-based single nucleotide polymorphisms (SNP) analysis was conducted using an Axiom(TM) Genome-Wide ASI 1 Array, comprising 598375 SNPs and samples from 109 MG patients and 150 neurologically normal controls. RESULTS: In total, 641 SNPs from five case-control associations showed p-values of less than 10(-5). From regional analysis, we selected seven candidate genes (RYR3, CACNA1S, SLAMF1, SOX5, FHOD3, GABRB1, and SACS) for further analysis. CONCLUSION: The present study suggests that a few genetic polymorphisms, such as in RYR3, CACNA1S, and SLAMF1, might be related to autoimmune MG. Our findings also encourage further studies, particularly confirmatory studies with larger samples, to validate and analyze the association between these SNPs and autoimmune MG.

The L441P Mutation of Cystic Fibrosis Transmembrane conductance Regulator and its Molecular Pathogenic Mechanisms in a Korean Patient with Cystic Fibrosis

Cystic fibrosis (CF) is an autosomal recessive disorder usually found in populations of white Caucasian descent. CF is caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. A 5-yr-old Korean girl was admitted complaining of coughing and greenish sputum. Chest radiographs and computed tomographic (CT) scan revealed diffuse bronchiectasis in both lungs. The patient had chronic diarrhea and poor weight gain, and the abdominal pancreaticobiliary CT scan revealed atrophy of the pancreas. Finally, CF was confirmed by the repeated analysis of the quantitative pilocarpine iontophoresis test. The chloride concentration of sweat samples taken from both forearms of the pateint was an average of 88.7 mM/L (normal value <40 mM/L). After a comprehensive search for mutations in the CFTR gene, the patient was found to carry the non-synonymous L441P mutation in one allele. Molecular physiologic analysis of the L441P mutation of CFTR revealed that the L441P mutation completely abolished the CFTR Cl- channel activity by disrupting proper protein folding and membrane trafficking of CFTR protein. These results confirmed the pathogenicity of the L441P mutation of CFTR circulating in the Korean population. The possibility of CF should be suspected in patients with chronic bronchiectasis, although the frequency of CF is relatively rare in East Asia.

Case-Control Association Study of the Norepinephrine Transporter Gene Polymorphism in Children with ADHD

OBJECTIVES: This study aimed to examine the association between norepinephrine transporter gene (SLC6A2) polymorphisms and attention-deficit hyperactivity disorder (ADHD) and to examine the relationship between the genotypes and allele variants of SLC6A2 and results of the Korean version of the parent ADHD rating scale (K-ARS). METHODS: We examined the association between ADHD and norepinephrine transporter gene polymorphism using DNA from 137 Korean children with ADHD and 120 normal controls. We compared the genotype distributions and allele frequencies of SLC6A2 polymorphism between the control group and the ADHD group. Then, we correlated the children's K-ARS mean totals, inattention scores, and hyperactivity/impulsivity scores with the genotypes and alleles for each SLC6A2 polymorphism. RESULTS: There were no significant differences in genotype and allele distribution for each SLC6A2 polymorphism, as shown by the Chi-square test (p>.01). There was a trend toward a difference in allele frequency in rs 5568, but it was not statistically significant after adjusting for multiple comparisons (p=.048). Also, there were no significant differences in K-ARS scores according to the genotypes and alleles for the SLC6A2 polymorphisms. CONCLUSION: Our study found no significant evidence of an association between SLC6A2 polymorphisms and ADHD.

Two Cases of Oculocerebrorenal Syndrome of Lowe

Oculocerebrorenal syndrome of Lowe(OCRL) is a rare X-linked disorder characterized by congenital cataract(oculo-), hypotonia, developmental delay, cognitive impairment(cerebro-), renal tubular dysfunction(renal), and growth retardation. Recently, the defective gene, OCRL-1 gene encoding [PtdIns(4,5)P2] 5-phosphatase, was cloned with mutations identified in patients. Although there have been about 200 cases of OCRL reported in English literature, only three reports have been published in our country including two from an ophthalmologic point of view. This is a case report of two patients diagnosed with OCRL at our hospital. The diagnosis was based on characteristic clinical manifestations involving three major systems(eyes, central nervous system and kidneys) and MRI findings of the brain. There are no specific therapy for this disorder yet, and we provided ophthalologic treatment for congenital cataract, rehabilitation therapy for neurologic symptoms, and supportive therapy for renal Fanconi syndrome. We expect that a molecular genetic diagnosis and gene therapy will be available in the near future.

A study on the T lymphocyte subsets, plasma neopterin and serum lgE in patients with atopic dermatitis / 대한피부과학회지

BACKGROUND: Many physiologic, pharmacologic and immunologic abnormalities were reported in atopic dermatitis but the cause and pathogenesis of the disease remain obscure. OBJECTIVE: This study was done to investigate the systemic immunologic abnormalities in atopic dermatitis. METHOD: To evaluate the cell mediated immunity, me quantified pei ipheral blood T lymphocytes and their subsets, using flow cytometery, and assessed plasma neopteiin levels by means of radioimmunoassay. To evaluate the abnormal humoral immunity, we assessed the serum IgE levels by means of enzyme-immunoassay. RESULTS: Mean proportions of peripheral blood T lymphocytes and, heir subsets in atopic Dermatitis patients were within normal limits. Hut the suppvessor/cytotoxic T lyrphocytes(T8) were significantly decreased in the group of se"ere atopic dermatitis compared with the group of mild atopic dermatitis(P0.05). Mean serum IgE levels in the patients with atopic dermatitis were higher than reference value. But there was no significant difference between the mild and severe atopic dermatitis group. Serum IgE levels ivere negatiiely correlated with T8(r=-0.3774, P<0.05) and positively with T4/T8 ratio(r =0.5007, P<0.05). Conclusions : These data;uggest that the atopic der matitis has abr ormalities in cell mediated immunity as well as elevated IgE level.