Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study

Background@#Epidemiological data have shown that vitamin D deficiency is highly prevalent in Korea. Genetic factors influencing vitamin D deficiency in humans have been studied in Europe but are less known in East Asian countries, including Korea. We aimed to investigate the genetic factors related to vitamin D levels in Korean people using a genome-wide association study (GWAS). @*Methods@#We included 12,642 subjects from three different genetic cohorts consisting of Korean participants. The GWAS was performed on 7,590 individuals using linear or logistic regression meta- and mega-analyses. After identifying significant single nucleotide polymorphisms (SNPs), we calculated heritability and performed replication and rare variant analyses. In addition, expression quantitative trait locus (eQTL) analysis for significant SNPs was performed. @*Results@#rs12803256, in the actin epsilon 1, pseudogene (ACTE1P) gene, was identified as a novel polymorphism associated with vitamin D deficiency. SNPs, such as rs11723621 and rs7041, in the group-specific component gene (GC) and rs11023332 in the phosphodiesterase 3B (PDE3B) gene were significantly associated with vitamin D deficiency in both meta- and mega-analyses. The SNP heritability of the vitamin D concentration was estimated to be 7.23%. eQTL analysis for rs12803256 for the genes related to vitamin D metabolism, including glutamine-dependent NAD(+) synthetase (NADSYN1) and 7-dehydrocholesterol reductase (DHCR7), showed significantly different expression according to alleles. @*Conclusion@#The genetic factors underlying vitamin D deficiency in Korea included polymorphisms in the GC, PDE3B, NADSYN1, and ACTE1P genes. The biological mechanism of a non-coding SNP (rs12803256) for DHCR7/NADSYN1 on vitamin D concentrations is unclear, warranting further investigations.

Energy Efficiency and Patient Satisfaction of Gait With Knee-Ankle-Foot Orthosis and Robot (ReWalk)-Assisted Gait in Patients With Spinal Cord Injury

Objective@#To compare the energy efficiency of gait with knee-ankle-foot orthosis (KAFO) and robot-assisted gait and to develop a usability questionnaire to evaluate the satisfaction of walking devices in paraplegic patients with spinal cord injuries. @*Methods@#Thirteen patients with complete paraplegia participated and 10 completed the evaluation. They were trained to walk with KAFO (KAFO-gait) or a ReWalk robot (ReWalk-gait) for 4 weeks (20 sessions). After a 2-week wash-out period, they switched walking devices and underwent 4 additional weeks of training. Two evaluations were performed (after 2 and 4 weeks) following the training periods for each walking device, using the 6-minute walking test (6MWT) and 30-minute walking test (30MWT). The spatiotemporal variables (walking distance, velocity, and cadence) and energy expenditure (heart rate, maximal heart rate, the physiologic cost index, oxygen consumption, metabolic equivalents, and energy efficiency) were evaluated duringthe 6MWT and 30MWT. A usability evaluation questionnaire for walking devices was developed based on the International Organization for Standardization/International Electrotechnical Commission guidelines through expert consultation. @*Results@#The ReWalk-gait presented significant advantages in energy efficiency compared to KAFO-gait in the 6MWT and 30MWT; however, there were no differences in walking distance or speed in the 30MWT between ReWalk-gait and KAFOgait. The usability test demonstrated that ReWalk-gait was not superior to KAFO-gait in terms of safety, efficacy, efficiency, or patient satisfaction. @*Conclusion@#The robot (ReWalk) enabled patients with paraplegia to walk with lower energy consumption compared to KAFO, but the ReWalk-gait was not superior to KAFO-gaitin terms of patient satisfaction.

Changes in the Trend in Bladder Emptying Methods in Patients With Spinal Cord Injury: A 20-Year Single-Center Retrospective Study

Objective@#To review trends in bladder emptying methods over a 20-year period in patients with spinal cord injury (SCI) by severity according to the American Spinal Injury Association impairment scale (AIS). @*Methods@#Medical records of patients with SCI from 1994 to 1998 (group 1) and from 2012 to 2016 (group 2) were retrospectively reviewed. We classified bladder emptying methods according to the International Spinal Cord dataset. We grouped patients with normal voiding, bladder reflex triggering, and bladder expression as those using voiding without catheter. @*Results@#A total of 667 patients were included in the analysis. The proportion of patients using voiding without catheter and intermittent catheterization decreased from 67.0% to 30.0% and increased from 26.8% to 54.8%, respectively. In patients with AIS-A and AIS-B, the proportion of patients with intermittent catheterization increased from 32.8% to 73.3%. In patients with AIS-D, the proportion of patients using voiding without catheter and intermittent catheterization decreased from 88.5% to 68.9% and increased from 11.5% to 26.8%, respectively. In group 2, among 111 patients with AIS-D using voiding without catheter at admission, 8 (7.2%) switched to intermittent catheterization at discharge due to decreased bladder volume, increased post-voiding residual urine, or incontinence. @*Conclusion@#Over the past 20 years, trends in bladder emptying methods in patients with SCI changed from voiding without catheter to intermittent catheterization in Korea. This was especially prominent in patients with AIS-A, AIS-B, and AIS-C. Even in patients with AIS-D, the use of intermittent catheterization at hospital discharge increased.

Effects of Combined Upper Limb Robotic Therapy in Patients With Tetraplegic Spinal Cord Injury

OBJECTIVE: To confirm the effects of combined upper limb robotic therapy (RT) as compared to conventional occupational therapy (OT) in tetraplegic spinal cord injury (SCI) patients and to suggest the optimized treatment guidelines of combined upper limb RT. METHODS: After subject recruitment and screening for eligibility, the baseline evaluation for outcome measures were performed. We evaluated the Graded and Redefined Assessment of Strength, Sensibility, and Prehension (GRASSP), the American Spinal Injury Association upper extremity motor score, grip and pinch strength, and the Spinal Cord Independence Measurement III (SCIM-III). In this study, the pre-tested participants were divided randomly into the RT and OT group. The utilized interventions included combined upper limb RT using ArmeoPower and Amadeo (RT group), or conventional OT (OT group) in addition to daily inpatient rehabilitation program. The participants underwent 40 minutes×3 sessions×5 weeks of interventions. RESULTS: A total of 30 tetraplegic SCI patients completed entire study program. After 5 weeks of intervention, both groups demonstrated increases in GRASSP-strength and SCIM-III. The manual muscle test scores of elbow flexion, elbow extension, 2-5th metacarpophalangeal extension, and SCIM-III subscores of bathing-upper, dressing-upper, and grooming as well as the GRASSP-qualitative prehension score were noted to have been significantly increased in the RT group as evaluated. The OT group showed improvements in the GRASSP-quantitative prehension score and some items in grip and pinch strength. There was no significant difference between the two groups in almost all measurements except for the SCIM-III bathing-upper subscore. CONCLUSION: Combined upper limb RT demonstrated beneficial effects on the upper limb motor function in patients with tetraplegic SCI, which were comparable with conventional OT.

Combined endoscopic sphincterotomy and large balloon sphincteroplasty for bile duct stones / 대한내과학회지

BACKGROUND: The combined use of small endoscopic sphincterotomy (EST) followed by endoscopic papillary large balloon dilation (EPLBD) might be associated with a lower incidence of procedure-related complications such as pancreatitis, bleeding or perforation, compared to the use of EPLBD or a large EST alone. The aim of this retrospective study was to evaluate the utility of a combined EST and EPLBD method for the removal of common bile duct (CBD) stones that could not be extracted by use of an EST and conventional techniques. METHODS: Between March 2005 and September 2006, a total of 35 patients with CBD stones were enrolled. Fourteen patients had received a previous EST, and 21 patients underwent an EST. The sphincterotomy site was then dilated with a 12~18 mm diameter balloon. RESULTS: The average number of stones was 3.6+/-2.9 (range: 110). The average maximum stone diameter was 26.11+/-8.88 mm (range: 12~50 mm). Complete stone removal was accomplished in 31 patients (88.6%). In 9 patients (25.7%), a mechanical lithotripsy was required. No episode of true pancreatitis occurred. A procedure-related perforation occurred in one patient (2.8%) and the patient was treated with NPO and antibiotics. No procedure-related bleeding or mortality was observed. The procedure was performed safely in 9 patients (25.7%) with a periampullary diverticulum and in 14 patients (40.0%) with a previous EST. CONCLUSIONS: Combined EST and EPLBD may be a safe and effective method, and may be a good alternative treatment for removing CBD stones that cannot be extracted by an EST and conventional techniques. However, prospective studies based on a large number of patients are needed.

The Role of Percutaneous Transhepatic Cholangioscopy in Patients with Hilar Strictures

BACKGROUND/AIMS: Various diagnostic advantages of percutaneous transhepatic cholangioscopy (PTCS) for the determination of the range of tumor and for the characterization of cholangioscopic findings have been reported. The aim of our study is to evaluate the diagnostic and therapeutic role of PTCS in patients with hilar strictures and to investigate its causes. METHODS: We retrospectively studied the medical records and cholangioscopic reports of 177 patients who received PTCS for hilar strictures between January 2000 and December 2005 at Asan Medical Center, Seoul. For each patient, cholagnioscopy, biopsy result, computed tomography (CT) and magnetic resonance cholangiopancreaticography (MRCP), operation, and pathologic reports were collected. RESULTS: Most patients had malignant hilar strictures or biliary papillomatosis while a few had benign hilar strictures. Presence of tumor vessel on PTCS was a useful diagnostic tool since direct observation of the tumor vessel strongly suggested a malignant tumor in the bile duct. The sensitivity of tumor vessel alone was 56.1%, and sensitivity of PTCS biopsy alone was 76.9%. However, sensitivity of biopsy combined with cholangioscopy of the tumor vessel was 88.4%, which was statistically significant compared with biopsy or tumor vessel alone. CONCLUSIONS: PTCS biopsy combined with cholangioscopic observation was useful in differential diagnosis of hilar strictures. PTCS also had a therapeutic role in some patients with incurable malignant hilar lesion.

Comparison of Clinical Findings between Autoimmune Pancreatitis with Bile Duct Involvement and Primary Sclerosing Cholangitis / 대한소화기학회지

BACKGOUND/AIMS: The involvement of bile ducts is frequently reported in autoimmune pancreatitis (AIP), which seem to have similar features to primary sclerosing cholangitis (PSC). Recent systematic comparative studies about these diseases are rare in Korea. METHODS: We retrospectively analyzed 26 patients with AIP with bile duct involvement and 30 patients with classic PSC who were diagnosed during the last decade. RESULTS: The mean age of patients was significantly higher in AIP than PSC at the time of diagnosis. There was a preponderance of men in both group, which was more prominent in AIP. The most common symptom in patients with AIP was jaundice, but PSC patients usually visited hospitals due to incidentally detected abnormal liver function tests. Most (26/31) of AIP had bile duct involvement. All of these patients showed narrowing of intrapancreatic common bile ducts and one patient exhibited hilar involvement as well. About 80% of PSC had both intra- and extrahepatic ducts involvement, and the characteristic features involve multifocal strictures. AIP patients showed improvement with steroid treatment, however, most PSC patients showed clinical deterioration. CONCLUSIONS: The clinical and cholangiographic findings of patients with AIP and PSC have many different characteristics. Therefore, further study of two diseases is required for the proper diagnosis and management.

Comparison of Core(R) stent and Palmaz-Schatz(R) stent in a Porcine Stent Restenosis Model

BACKGROUND AND OBJECTIVES: The purpose of this study is to compare new Core(R) stent and Palmaz-Schatz(R) (PS)stent in a porcine coronary stent restenosis model. METHODS: Twelve pigs underwent balloon injury and followed by implantation of oversized, tubular types of Core(R) and PS(R) stents (stent/artery ratio 1.2:1) in twenty-four coronary arteries. Quantitative analyses of initial and follow-up coronary angiograms at 4 weeks after stenting were performed. By morphometric analysis, the extents of injury and neointimal area were compared between two stented groups. The stent flexibility and longitudinal staightening effect were compared between two groups by the bending test and measurement of the angle changes. RESULTS: 1) Reference vessel diameter, stented artery diameter, and diameter stenosis were not different between two groups. 2) The neointimal area was significantly smaller in the Core(R) stent group than in the PS(R) stent group (1.81+/-0.67 mm2 vs 2.93+/-0.94 mm2, p=0.006). 3) Core(R) stent had more flexible property than PS(R) stent. 4) The angle changes after stent implantation were not different between two groups(13.2+/-9.0, 14.4+/-11.1, p=0.88). CONCLUSION: Core(R) stent is effective in the inhibition of neointimal formation in a porcine coronary stent restenosis model. And this results may be due to more improved flexibility of the Core(R) stent and further clinical trials may be needed.

A Case of acute respiratory distress syndrome induced by all-trans-retinoic acid / 결핵

Acute respiratory distress syndrome (ARDS) has been reported to be associated with a variety of medical and surgical conditions, including All-trans-retinoic acid (ATTA). ATRA is very efficaceous drug to acute promyelocytic leukemia (APL). This drug can induce complete remission at APL without fatal risk of disseminated intravascular coagulation. But ATRA treatment, sometimes, produces the symptoms of fever, weight gain and acute respiratory distress, renal function impairment. The causes of these symptoms are not fully proved, but supposed as the result of leukostasis and capillary leak syndrome from excessive leukocyte differentiation and cytokines release. Recently, we experienced a 24-year-old woman who complained gum bleeding for 6 days. At bone marrow biopsy, she was diagnosed as APL. 2 days after ATRA treatment, she was suffered from the symptoms of dyspnea and general ache. At laboratory examination, total leukocyte count was 50,400/mm3 PaO2 was 42.5 mmHg and chest PA revealed the findings compatible with ARDS. Treatment with low dose ara-C, corticosteroid and general supportive cares were tried. Within 3 days after treatment, the patient recovered from ADRD by evidence of arterial blood gas study and chest radiographs. She has acquired complete remission of APL with maintenance of ATRA. And so, we present this case with a review of related literatures.

Primary Malignant Lymphoma of The Bilateral Orbit

The primary malignant lymphoma of the orbit is a very rare condition. The authers experienced a case of primary Non-Hodgkin's lymphoma on the bilateral orbit in 55 year old male without other systemic symptoms and signs. The primary Non-Hodgkin's lymphoma was confirmed by biopsy and histopathologic examination. The patient was treated with combination chemotherapy and the tumor has not been recurred during the follow up of 12 months.

Pseudophakic Endophthalmitis

The authors treated 12 patients with pseudophakic endophthalmitis over a 5 year period between 1990 and 1994. Common clinical manifestations included anterior chamber inflammation, conjunctival injection, decreased visual acuity, ocular pain and hypopyon. Eight of 12 cases(67%) were culture positive when organisms were grown up from aspirates of the aqueous, the vitreous or both. Three of the culture positive cases were grown up from aspirates of the aqueous, the vitreous or both. Three of the culture positive cases were candida endophthalmitis. Treatment consisted of topical, periocular, systemic and intravitreal injection of antimicrobial agents. In addition, because of poor clinical response of medical conservative therapy, six cases had a vitrectomy. Intraocular lenses were removed in 3 candida endophthalmitis at second operation. Final visual acuity has better in culture negative and low virulent bacterial endophthalimitis than high virulent bacterial and candida endophthalmitis. Visual outcome was better in cured patients who received a single intravitreal injection or a single intravitreal injection in combination with virectomy than the patients who did not receive intravitreal injection or received repeated intravitreal injection. Complications were two eviscerations and a retinal detachment.