1.Clinical Practice Guideline for Stroke Rehabilitation in Korea 2016.
Deog Young KIM ; Yun Hee KIM ; Jongmin LEE ; Won Hyuk CHANG ; Min Wook KIM ; Sung Bom PYUN ; Woo Kyoung YOO ; Suk Hoon OHN ; Ki Deok PARK ; Byung Mo OH ; Seong Hoon LIM ; Kang Jae JUNG ; Byung Ju RYU ; Sun IM ; Sung Ju JEE ; Han Gil SEO ; Ueon Woo RAH ; Joo Hyun PARK ; Min Kyun SOHN ; Min Ho CHUN ; Hee Suk SHIN ; Seong Jae LEE ; Yang Soo LEE ; Si Woon PARK ; Yoon Ghil PARK ; Nam Jong PAIK ; Sam Gyu LEE ; Ju Kang LEE ; Seong Eun KOH ; Don Kyu KIM ; Geun Young PARK ; Yong Il SHIN ; Myoung Hwan KO ; Yong Wook KIM ; Seung Don YOO ; Eun Joo KIM ; Min Kyun OH ; Jae Hyeok CHANG ; Se Hee JUNG ; Tae Woo KIM ; Won Seok KIM ; Dae Hyun KIM ; Tai Hwan PARK ; Kwan Sung LEE ; Byong Yong HWANG ; Young Jin SONG
Brain & Neurorehabilitation 2017;10(Suppl 1):e11-
“Clinical Practice Guideline for Stroke Rehabilitation in Korea 2016” is the 3rd edition of clinical practice guideline (CPG) for stroke rehabilitation in Korea, which updates the 2nd edition published in 2014. Forty-two specialists in stroke rehabilitation from 21 universities and 4 rehabilitation hospitals and 4 consultants participated in this update. The purpose of this CPG is to provide optimum practical guidelines for stroke rehabilitation teams to make a decision when they manage stroke patients and ultimately, to help stroke patients obtain maximal functional recovery and return to the society. The recent two CPGs from Canada (2015) and USA (2016) and articles that were published following the 2nd edition were used to develop this 3rd edition of CPG for stroke rehabilitation in Korea. The chosen articles' level of evidence and grade of recommendation were decided by the criteria of Scotland (2010) and the formal consensus was derived by the nominal group technique. The levels of evidence range from 1++ to 4 and the grades of recommendation range from A to D. Good Practice Point was recommended as best practice based on the clinical experience of the guideline developmental group. The draft of the developed CPG was reviewed by the experts group in the public hearings and then revised. “Clinical Practice Guideline for Stroke Rehabilitation in Korea 2016” consists of ‘Chapter 1; Introduction of Stroke Rehabilitation’, ‘Chapter 2; Rehabilitation for Stroke Syndrome, ‘Chapter 3; Rehabilitation for Returning to the Society’, and ‘Chapter 4; Advanced Technique for Stroke Rehabilitation’. “Clinical Practice Guideline for Stroke Rehabilitation in Korea 2016” will provide direction and standardization for acute, subacute and chronic stroke rehabilitation in Korea.
Canada
;
Consensus
;
Consultants
;
Humans
;
Korea*
;
Practice Guidelines as Topic
;
Rehabilitation*
;
Scotland
;
Specialization
;
Stroke*
2.Long-Term Recurrence Rates of Peptic Ulcers without Helicobacter pylori.
Jae Hyun SEO ; Su Jin HONG ; Jie Hyun KIM ; Byung Wook KIM ; Sam Ryong JEE ; Woo Chul CHUNG ; Ki Nam SHIM ; Gwang Ho BAIK ; Sung Soo KIM ; Sang Gyun KIM ; Jin Il KIM
Gut and Liver 2016;10(5):719-725
BACKGROUND/AIMS: The purpose of this study is to investigate the recurrence rate of peptic ulcer disease (PUD) over a long follow-up period with PUD patients without Helicobacter pylori. METHODS: We retrospectively reviewed patients diagnosed with PUD on endoscopy and divided them into two groups: a H. pylori-negative group (HP-negative group), and a group of patients with untreated H. pylori (HP noneradicated group). We compared the recurrence rates of PUD in these two groups and analyzed the factors that affected ulcer recurrence. RESULTS: Total of nine hospitals in Korea participated, and a total of 1,761 patients were retrospectively reviewed. The HP-negative group included 553 patients, and the HP noneradicated group included 372 patients. The 5-year cumulative probabilities of PUD recurrence were 36.4% in the HP-negative group and 43.8% in the HP noneradicated group (p=0.113). The factors that were found to affect recurrence in the HP-negative group were elder, male, and comorbid chronic kidney disease. CONCLUSIONS: The 5-year cumulative probability of PUD recurrence without H. pylori infection after a long-term follow-up was 36.4% and the factors that affected recurrence were elder, male, and comorbid chronic kidney disease.
Endoscopy
;
Follow-Up Studies
;
Helicobacter pylori*
;
Helicobacter*
;
Humans
;
Korea
;
Male
;
Peptic Ulcer*
;
Recurrence*
;
Renal Insufficiency, Chronic
;
Retrospective Studies
;
Ulcer
3.Comparison of the Clinical Characteristics of the Patients Visited in Emergency Department with Pandemic 2009 Influenza A (H1N1) Virus Infection during the First Three Years; An Observational Study at a Single Emergency Department.
Sang Seo NAM ; Byung Soo DO ; Sin Youl PARK ; Sam Beom LEE
Journal of the Korean Society of Emergency Medicine 2014;25(1):84-89
PURPOSE: Daegu, Korea was severely affected by pandemic and post-pandemic H1N1 infection during August 2009 to March 2012. The aim of this study was to analyze various clinical characteristics of patients who visited the emergency department with H1N1 infection during the first three years, and to compare the results for each year. We then performed an evaluation of the differences. METHODS: The medical records of patients who visited our emergency department and conformed to H1N1 virus infection by conventional rRT-PCR during the pandemic wave from August 2009 to March 2010(wave 1) and post-pandemic waves from August 2010 to March 2011(wave 2) and from August 2011 to March 2012(wave 3) were reviewed. A total of 986 patients (wave 1; 840, wave 2; 144, wave 3; 2) were included in this study. We analyzed the clinical characteristics, proportions of pneumonia, admission rate, relationships with underlying medical conditions, and requirement for mechanical ventilation of the infected patients, and then performed a statistical evaluation of the differences between wave 1 and wave 2 that was severely affected. RESULTS: During wave 1,840 patients, during wave 2, 144 patients, and during wave 3, two patients were diagnosed as novel influenza. Age 18-39 showed a significantly higher rate(78.7%) in the wave 1 patients group. Main clinical symptoms were cough and febrile sense in both waves. Patients with underlying medical conditions in wave 2(97 cases, 67.4%) showed a higher rate than those of wave 1(101 cases, 12.0%). Chronic obstructive pulmonary disorder was the most closely related underlying disorder in wave 2(18.8%). Patients requiring admission(37.5%) and ventilatory care(6.9%) due to severe pneumonic symptoms showed a significantly higher rate in wave 2. Only two young patients were diagnosed as novel influenza. Both complained of mild fever and cough, which recovered spontaneously. CONCLUSION: Most cases of influenza A (H1N1) infection were uncomplicated, characterized by influenza-like symptoms and spontaneous recovery. The number of patients showed a marked decreased year by year, however, the severity of clinical presentations increased in wave 2. Young adults who did not have cross-reactive antibodies to novel influenza A (H1N1) from previous infection or immunization were dominant in wave 1. Older patients with underlying medical conditions were more likely to admitted and present fatal progress in wave 1 and wave 2. Because influenza viruses are unpredictable, continued national preparedness, flexible response, and careful monitoring are essential.
Antibodies
;
Cough
;
Emergencies*
;
Emergency Service, Hospital*
;
Daegu
;
Epidemiology
;
Fever
;
Humans
;
Immunization
;
Influenza A Virus, H1N1 Subtype
;
Influenza, Human*
;
Korea
;
Medical Records
;
Observational Study*
;
Orthomyxoviridae
;
Pandemics*
;
Pneumonia
;
Respiration, Artificial
;
Young Adult
4.Comparison of the Clinical Characteristics of the Patients Visited in Emergency Department with Pandemic 2009 Influenza A (H1N1) Virus Infection during the First Three Years; An Observational Study at a Single Emergency Department.
Sang Seo NAM ; Byung Soo DO ; Sin Youl PARK ; Sam Beom LEE
Journal of the Korean Society of Emergency Medicine 2014;25(1):84-89
PURPOSE: Daegu, Korea was severely affected by pandemic and post-pandemic H1N1 infection during August 2009 to March 2012. The aim of this study was to analyze various clinical characteristics of patients who visited the emergency department with H1N1 infection during the first three years, and to compare the results for each year. We then performed an evaluation of the differences. METHODS: The medical records of patients who visited our emergency department and conformed to H1N1 virus infection by conventional rRT-PCR during the pandemic wave from August 2009 to March 2010(wave 1) and post-pandemic waves from August 2010 to March 2011(wave 2) and from August 2011 to March 2012(wave 3) were reviewed. A total of 986 patients (wave 1; 840, wave 2; 144, wave 3; 2) were included in this study. We analyzed the clinical characteristics, proportions of pneumonia, admission rate, relationships with underlying medical conditions, and requirement for mechanical ventilation of the infected patients, and then performed a statistical evaluation of the differences between wave 1 and wave 2 that was severely affected. RESULTS: During wave 1,840 patients, during wave 2, 144 patients, and during wave 3, two patients were diagnosed as novel influenza. Age 18-39 showed a significantly higher rate(78.7%) in the wave 1 patients group. Main clinical symptoms were cough and febrile sense in both waves. Patients with underlying medical conditions in wave 2(97 cases, 67.4%) showed a higher rate than those of wave 1(101 cases, 12.0%). Chronic obstructive pulmonary disorder was the most closely related underlying disorder in wave 2(18.8%). Patients requiring admission(37.5%) and ventilatory care(6.9%) due to severe pneumonic symptoms showed a significantly higher rate in wave 2. Only two young patients were diagnosed as novel influenza. Both complained of mild fever and cough, which recovered spontaneously. CONCLUSION: Most cases of influenza A (H1N1) infection were uncomplicated, characterized by influenza-like symptoms and spontaneous recovery. The number of patients showed a marked decreased year by year, however, the severity of clinical presentations increased in wave 2. Young adults who did not have cross-reactive antibodies to novel influenza A (H1N1) from previous infection or immunization were dominant in wave 1. Older patients with underlying medical conditions were more likely to admitted and present fatal progress in wave 1 and wave 2. Because influenza viruses are unpredictable, continued national preparedness, flexible response, and careful monitoring are essential.
Antibodies
;
Cough
;
Emergencies*
;
Emergency Service, Hospital*
;
Daegu
;
Epidemiology
;
Fever
;
Humans
;
Immunization
;
Influenza A Virus, H1N1 Subtype
;
Influenza, Human*
;
Korea
;
Medical Records
;
Observational Study*
;
Orthomyxoviridae
;
Pandemics*
;
Pneumonia
;
Respiration, Artificial
;
Young Adult
5.The Clinical Significance of Specialized Intestinal Metaplasia in the Diagnosis of Barrett's Esophagus: Nationwide Prospective Multicenter Study.
Hyun Kyung PARK ; Nayoung KIM ; Byoung Hwan LEE ; Jin Il KIM ; So Young LEE ; Hyun Min CHA ; Hyerang KIM ; Soo Hyun PARK ; Jong Jae PARK ; Sang Woo LEE ; Ki Nam SHIM ; Seong Eun KIM ; Su Jin HONG ; Il Kwun CHUNG ; Gwang Ho BAIK ; Hyun Soo KIM ; Sungkook KIM ; Jae Kyu SEONG ; Geom Seog SEO ; Sam Ryong JEE ; Jeong Seop MOON ; Mee Yon CHO ; Jae Woo KIM ; Moon Gi CHUNG ; Seon Mee PARK ; Byung Kyu NAH ; Su Youn NAM ; Kang Seok SEO ; Byung Sung KO ; Yun Ju JO ; Jae Young JANG ; Byeong Gwan KIM ; Ji Won KIM ; Kyung Sik PARK ; Hyun Shin PARK ; Young Sun KIM ; Seon Hee LIM ; Chung Hyeon KIM ; Min Jung PARK ; Jeong Yoon YIM ; Kyung Ran CHO ; Donghee KIM ; Seun Ja PARK ; Geun Am SONG ; Hyun Jin KIM ; Sang Wook KIM ; Eui Hyeog IM ; Kyoung Soo LEE ; Dong Hyo HYUN ; Hyun Young KIM ; Sun Mi KIM ; Jeong Eun SHIN ; Chan Guk PARK ; Chang Hun YANG ; Soo Heon PARK ; Hyun Chae JUNG ; In Sik CHUNG
The Korean Journal of Helicobacter and Upper Gastrointestinal Research 2012;12(3):171-177
BACKGROUND/AIMS: The meaning of specialized intestinal metaplasia (SIM) in the diagnosis of Barrett's esophagus (BE) is not clear. This study was designed to determine the clinical significance of SIM in the diagnosis of Barrett's esophagus. MATERIALS AND METHODS: Biopsies were taken from 601 subjects with endoscopically suspected columnar-lined esophagus. Under light microscopy with Alcian-blue stain, SIM was identified. Demographic characteristics, gastroesophageal (GE) reflux symptoms and endoscopic findings were compared between the SIM-present group and the SIM-absent group. RESULTS: Among 601 subjects, 184 (30.6%) were confirmed by pathology to have SIM. Age over 40 years (P<0.001) and a medication history of proton pump inhibitor or H2 blocker were found more frequently in the SIM-present group (P=0.01) than in the SIM-absent group. Any of 7 GE reflux symptoms (heartburn, acid regurgitation, chest pain, hoarseness, globus sensation, cough and epigastric soreness) were more frequent in the SIM-present group than SIM-absent group (P<0.001). Specifically, heartburn, chest pain and cough were significantly more common in the SIM-present group. There was no clinically significant difference associated with endoscopic findings or other clinical characteristics. CONCLUSIONS: When subjects with endoscopically suspected BE are analyzed based on the presence or absence of SIM, the SIM-present group was significantly associated with GE reflux symptoms suggestive of frequent GE reflux. However, the presence of SIM did not correlate with endoscopic findings.
Barrett Esophagus
;
Biopsy
;
Chest Pain
;
Cough
;
Esophagus
;
Gastroesophageal Reflux
;
Heartburn
;
Hoarseness
;
Light
;
Metaplasia
;
Microscopy
;
Prospective Studies
;
Proton Pumps
;
Sensation
6.The Distribution of Endoscopic Gastritis in 25,536 Heath Check-up Subjects in Korea.
Hyun Kyung PARK ; Nayoung KIM ; Sang Woo LEE ; Jong Jae PARK ; Jin Il KIM ; So Young LEE ; Hyun Min CHA ; Hyerang KIM ; Soo Hyun PARK ; Ki Nam SHIM ; Seong Eun KIM ; Su Jin HONG ; Il Kwun CHUNG ; Gwang Ho BAIK ; Hyun Soo KIM ; Sungkook KIM ; Jae Kyu SEONG ; Geom Seog SEO ; Sam Ryong JEE ; Jeong Seop MOON ; Jae Woo KIM ; Moon Gi CHUNG ; Seon Mee PARK ; Byung Kyu NAH ; Su Youn NAM ; Kang Seok SEO ; Byung Sung KO ; Yun Ju JO ; Jae Young JANG ; Byeong Gwan KIM ; Ji Won KIM ; Kyung Sik PARK ; Hyun Shin PARK ; Young Sun KIM ; Seon Hee LIM ; Chung Hyeon KIM ; Min Jung PARK ; Jeong Yoon YIM ; Kyung Ran CHO ; Donghee KIM ; Seun Ja PARK ; Geun Am SONG ; Hyun Jin KIM ; Sang Wook KIM ; Eui Hyeog IM ; Kyoung Soo LEE ; Dong Hyo HYUN ; Hyun Young KIM ; Sun Mi KIM ; Jeong Eun SHIN ; Chan Guk PARK ; Chang Hun YANG ; Soo Heon PARK ; Hyun Chae JUNG ; In Sik CHUNG
The Korean Journal of Helicobacter and Upper Gastrointestinal Research 2012;12(4):237-243
BACKGROUND/AIMS: Chronic gastritis is a common finding during endoscopy and it is very important to describe it correctly. This study was designed to evaluate the distribution of endoscopic gastritis and the differences according to age, sex or area. MATERIALS AND METHODS: A clinical analysis was conducted on 25,536 subjects who had undergone an upper endoscopy for routine health check-up. Endoscopic gastritis was classified into four types, superficial gastritis, erosive gastritis, atrophic gastritis and intestinal metaplasia. The distribution of the four types of gastritis was evaluated according to sex, age and area. RESULTS: 51.6% of the patients had experienced at least one of the symptoms (epigastric pain or discomfort, soarness, dyspepsia, abdominal pain) on at least a few occasions during the previous year. The incidence of normal gastric finding was 3,593 (14.1%). 21,943 (85.9%) subjects have at least more than one of endoscopic gastritis. The number of cases with superficial gastritis was 7,983 (31.3%), erosive gastritis 6,054 (23.7%), atrophic gastritis 6,918 (27.1%), and intestinal metaplasia 1,181 (7.1%). Erosive gastritis, atrophic gastritis and intestinal metaplasia were more frequent in men than women (P<0.001) and in the older age group (> or =60 years) than younger age group (P<0.001). CONCLUSIONS: The prevalence of endoscopic gastritis was very common, 85.9%. In addition, erosive gastritis, atrophic gastritis and intestinal metaplasia were more frequent in men and in the older age group, which is similar to gastric cancer or peptic ulcer. Cautious regular endoscopic follow-up might be necessary regardless of gastrointestinal symptoms in Korea.
Dyspepsia
;
Endoscopy
;
Female
;
Gastritis
;
Gastritis, Atrophic
;
Helicobacter pylori
;
Humans
;
Incidence
;
Korea
;
Male
;
Metaplasia
;
Peptic Ulcer
;
Prevalence
;
Stomach Neoplasms
7.The Distribution of Endoscopic Gastritis in 25,536 Heath Check-up Subjects in Korea.
Hyun Kyung PARK ; Nayoung KIM ; Sang Woo LEE ; Jong Jae PARK ; Jin Il KIM ; So Young LEE ; Hyun Min CHA ; Hyerang KIM ; Soo Hyun PARK ; Ki Nam SHIM ; Seong Eun KIM ; Su Jin HONG ; Il Kwun CHUNG ; Gwang Ho BAIK ; Hyun Soo KIM ; Sungkook KIM ; Jae Kyu SEONG ; Geom Seog SEO ; Sam Ryong JEE ; Jeong Seop MOON ; Jae Woo KIM ; Moon Gi CHUNG ; Seon Mee PARK ; Byung Kyu NAH ; Su Youn NAM ; Kang Seok SEO ; Byung Sung KO ; Yun Ju JO ; Jae Young JANG ; Byeong Gwan KIM ; Ji Won KIM ; Kyung Sik PARK ; Hyun Shin PARK ; Young Sun KIM ; Seon Hee LIM ; Chung Hyeon KIM ; Min Jung PARK ; Jeong Yoon YIM ; Kyung Ran CHO ; Donghee KIM ; Seun Ja PARK ; Geun Am SONG ; Hyun Jin KIM ; Sang Wook KIM ; Eui Hyeog IM ; Kyoung Soo LEE ; Dong Hyo HYUN ; Hyun Young KIM ; Sun Mi KIM ; Jeong Eun SHIN ; Chan Guk PARK ; Chang Hun YANG ; Soo Heon PARK ; Hyun Chae JUNG ; In Sik CHUNG
The Korean Journal of Helicobacter and Upper Gastrointestinal Research 2012;12(4):237-243
BACKGROUND/AIMS: Chronic gastritis is a common finding during endoscopy and it is very important to describe it correctly. This study was designed to evaluate the distribution of endoscopic gastritis and the differences according to age, sex or area. MATERIALS AND METHODS: A clinical analysis was conducted on 25,536 subjects who had undergone an upper endoscopy for routine health check-up. Endoscopic gastritis was classified into four types, superficial gastritis, erosive gastritis, atrophic gastritis and intestinal metaplasia. The distribution of the four types of gastritis was evaluated according to sex, age and area. RESULTS: 51.6% of the patients had experienced at least one of the symptoms (epigastric pain or discomfort, soarness, dyspepsia, abdominal pain) on at least a few occasions during the previous year. The incidence of normal gastric finding was 3,593 (14.1%). 21,943 (85.9%) subjects have at least more than one of endoscopic gastritis. The number of cases with superficial gastritis was 7,983 (31.3%), erosive gastritis 6,054 (23.7%), atrophic gastritis 6,918 (27.1%), and intestinal metaplasia 1,181 (7.1%). Erosive gastritis, atrophic gastritis and intestinal metaplasia were more frequent in men than women (P<0.001) and in the older age group (> or =60 years) than younger age group (P<0.001). CONCLUSIONS: The prevalence of endoscopic gastritis was very common, 85.9%. In addition, erosive gastritis, atrophic gastritis and intestinal metaplasia were more frequent in men and in the older age group, which is similar to gastric cancer or peptic ulcer. Cautious regular endoscopic follow-up might be necessary regardless of gastrointestinal symptoms in Korea.
Dyspepsia
;
Endoscopy
;
Female
;
Gastritis
;
Gastritis, Atrophic
;
Helicobacter pylori
;
Humans
;
Incidence
;
Korea
;
Male
;
Metaplasia
;
Peptic Ulcer
;
Prevalence
;
Stomach Neoplasms
8.A Case of Carbon Dioxide Poisoning from Dry Ice Inhalation.
Sang Seo NAM ; Kyung Hoon KWAK ; Sam Beom LEE ; Byung Soo DO
Journal of the Korean Society of Emergency Medicine 2011;22(3):295-298
Carbon dioxide (CO2) poisoning is rare, but its clinical features of acute exposure include cardiovascular, respiratory, neurologic and metabolic aspects. CO2 can also have a direct toxicological effect. At very high concentrations (>9%), CO2 induces respiratory depression and narcotic-like effects on the central nervous system. Especially, acute poisoning from dry ice is caused by CO2 gas inhalation and asphyxiation, and may impose excess load on the myocardium. This case was an acute CO2 poisoning from dry ice gas inhalation. In spite of an initial severe status, the male patient rapidly improved with no complications following the application of highly concentrated oxygen and fluid therapy.
Carbon
;
Carbon Dioxide
;
Central Nervous System
;
Dry Ice
;
Fluid Therapy
;
Humans
;
Inhalation
;
Male
;
Myocardium
;
Oxygen
;
Respiratory Insufficiency
9.A Case of Pneumonia with Septic Shock Due to Nocardia farcinia in Liver Transplant Patient.
Su Hwan LEE ; Byung Hoon PARK ; Ji Young SON ; Ji Ye JUNG ; Eun Young KIM ; Ju Eun LIM ; Ji Hoon LEE ; Shin Young HYUN ; Sang Hoon LEE ; Sang Kook LEE ; Song Yee KIM ; Kyung Jong LEE ; Young Ae KANG ; Young Sam KIM ; Se Kyu KIM ; Joon CHANG ; You Kyung SEO ; Kyoung Won LEE ; Moo Suk PARK
Tuberculosis and Respiratory Diseases 2010;69(6):469-473
Nocardia farcinia, an aerobic, gram-positive bacilli actinomycetes of the genus Nocardia, is an uncommon pathogen found in humans. The most common Nocardia infection sites are the lung, central nervous system, and skin. Even though hematogenous dissemination can occur, isolation of the organism from blood cultures is very rare. We report a case of Nocardia infection that was isolated on blood cultures. A 59-year-old male with a medical history that includes a liver transplantation 6-years prior due to hepatocellular carcinoma secondary to chronic hepatitis B, developed pneumonia and was transferred to Severance Hospital. At the time of admission, the patient's initial exam showed hypothermia, tachypnea, and hypotension. His chest radiograph showed severe pneumonia and a large abscess on left upper lobe. Under the presumptive diagnosis of bacterial pneumonia or other opportunistic infection, we started broad spectrum antibiotics. However, he developed Nocardia sepsis, rapidly deteriorated, and subsequently died.
Abscess
;
Actinobacteria
;
Anti-Bacterial Agents
;
Carcinoma, Hepatocellular
;
Central Nervous System
;
Hepatitis B, Chronic
;
Humans
;
Hypotension
;
Hypothermia
;
Liver
;
Liver Transplantation
;
Lung
;
Male
;
Middle Aged
;
Nocardia
;
Nocardia Infections
;
Opportunistic Infections
;
Pneumonia
;
Pneumonia, Bacterial
;
Sepsis
;
Shock
;
Shock, Septic
;
Skin
;
Tachypnea
;
Thorax
;
Transplants
10.A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis.
Jae Sung KO ; Byung Sam CHOI ; Jeong Kee SEO ; Jee Yeon SHIN ; Jong Hee CHAE ; Gyeong Hoon KANG ; Ran LEE ; Chang Seok KI ; Jong Won KIM
Journal of Korean Medical Science 2010;25(1):159-162
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome caused by a defect in cholesterol biosynthesis. The incidence is very low in Asians and only one case has been reported in Korea thus far. Recently, we found an infant with neonatal cholestasis. He had microcephaly, ambiguous genitalia, cleft palate, syndactyly of toes, patent ductus arteriosus and hypertrophic pyloric stenosis. The serum cholesterol was decreased and serum 7-dehydrocholesterol was markedly elevated. Genetic analysis of the DHCR7 gene identified a novel missense mutation (Pro227Ser) as well as a known mutation (Gly303Arg) previously identified in a Japanese patient with SLOS. Although rare in Korea, SLOS should be considered in the differential diagnosis of neonatal cholestasis, especially in patients with multiple congenital anomalies and low serum cholesterol levels.
Amino Acid Substitution
;
Base Sequence
;
Cholestasis/*diagnosis
;
Ductus Arteriosus, Patent/diagnosis
;
Electroencephalography
;
Humans
;
Infant, Newborn
;
Liver/pathology/ultrasonography
;
Male
;
*Mutation, Missense
;
Oxidoreductases Acting on CH-CH Group Donors/*genetics
;
Phenotype
;
Smith-Lemli-Opitz Syndrome/diagnosis/*genetics

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