• Tuberculosis and Respiratory Diseases
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• 제65권3호
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• pp.207-211
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• 2008

저자들은 발열, 기침, 객담을 주소로 입원한 24세 남환의 임상증상, 이학적 검사, 혈청학적 및 면역학적, 유전자 검사상 X연관 무감마글로불린혈증으로 진단된 예를 관찰하였기에 문헌 고찰과 함께 보고 하는 바이다. 반복적인 감염을 보이는 젊은 성인 환자에서 유전자 이상(Btk gene mutation)에 의한 면역결핍질환(X-linked agammaglobulinemia)의 가능성을 꼭 의심해 보아야 한다.

• 기본간호학회지
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• 제7권2호
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• pp.208-221
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• 2000

The objective of this research was to compare the flushing effects using 1:1,000 diluted heparin or 0.9% normal saline in relation to needle gauge and frequency of IV medications. The comparative categories were clotting, duration of patency, and incidence of phlebitis. The design of research was a Nonequivalent Control group, Post test, Nonsynchrorized Design. The independent variable was 0.9% normal saline flushing the IV locks and the dependent variables were clotting, duration of patency, and incidence of phlebitis. Subjects were medical-surgical inpatients over 15 years old and with peripherally placed IVs who were hospitalized in a university medical center. Exclusion criteria included foreigners and those who were rejected for this research. The final sample for data analysis included 295 IV sites in 194 patients; 154 were in the saline group and 141 were in the heparin group. Subjects were assigned to have IV locks is flushed with 0.9% normal saline in the experimental group and to have IV lock flushed with 1:1,000 diluted heparin(100 units) in the control group. In order to increase reliability, the nurses who were assigned to the units involved in the study received an explanation on the standard method for locking an IV, recording method for observational data and criteria for the detection of phlebitis. Data were collected for a period of 2 weeks, from March 16, 2000 to March 29, 2000. Total duration of IV was defined the time of IV insertion to the time of discontinuation. Phlebitis was defined as the presence of the following : pain, swelling. erythema at the insertion site. Chi-square was used to determine the association between the degree of clotting, duration of patency, and incidence of phlebitis for the diluted heparin or the normal saline and needle gauge and frequency of IV medications. The results are summarized as follows : (a) There was difference in the degree of clotting between two groups($X^2=5.882$, p=.015). (b) There was no difference in the degree of duration of patency between two groups($X^2=2.439$, p=.295). (c) There was no difference in the incidence of phlebitis between two groups($X^2=0.190$, p=.663). (d) There was difference in the degree of clotting($X^2=6.209$, p=.013) and in the degree of duration of patency($X^2=6.978$, p=.031) according the needle guage between the two groups. (e) There was difference in the incidence of phlebitis($X^2=5.008$, p=.025) according to the frequencies of IV injection between two groups.

• 대한유전성대사질환학회지
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• 제5권1호
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• pp.48-56
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• 2005

Purpose: Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000~15,000 female births worldwide. The disease-causing gene has been identified as MECP2 (methyl-CpG-binding protein). In this study, we carried out diagnostic mutational analysis of MECP2 gene in RTT patients. Methods: We analyzed four exons and putative promoter of MECP2 gene from the peripheral blood of 43 Korean patients with RTT by PCR-RFLP and direct sequencing. Results: Mutations were detected in MECP2 gene about 60.5% of patients. The mutations consisted of 14 different types including 9 missense mutations, 4 nonsense mutations and 1 frameshift mutation. Of these, three mutations (G161E, T311M, P385fsX409) were newly identified and these were determined as disease-causing mutations by PCR-RFLP and direct sequencing analysis. Most of the mutations were located within MBD (42.3%) and TRD (50%). T158M, R270X, and R306C mutations were identified with high frequency. An intronic SNP (IVS3+23C>G) was newly identified in only three of the patients. It may be a disease-related and Korea-specific SNP with RTT. The L100V and A201V have been reported to be unclassified variant and SNP. However, these mutations were not found in more than 100 normal Korean control samples. These base substitutions seem to be the disease-causing mutations in Korean RTT contrary to previous studies. Conclusion: Disease-causing mutations and polymorphisms would be very important for diagnosing of RTT in Korean. The experimental procedure used in this study might be considered for molecular biologic diagnosis used in clinical field.

• Advances in pediatric surgery
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• 제20권2호
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• pp.53-57
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• 2014

Purpose: Neonatal neuroblastoma (NBL) is the most common malignant tumor in neonates, but there have been few studies about it. The purpose of this study was to investigate the clinical features of NBL and to compare prenatal and postnatal diagnosed groups. Methods: Nineteen patients who were diagnosed with NBL prenatally or within 28 days after birth from February 1986 to February 2013 in Seoul National University Hospital were enrolled in the study. The patients were categorized according to the International Neuroblastoma Staging System (INSS) and Children's Oncology Group (COG). Retrospective medical-record reviews were performed on these patients. The operative date, complication, pathological stage, and overall survival of the prenatally diagnosed group and the postpartum diagnosed group were compared. Results: Tumor was detected via prenatal ultrasonography in 8 patients (42.1%), and 11 patients (57.9%) were diagnosed within 28 days after birth. Based on INSS, the patients were divided into the stage I (n=8), stage II (n=1), stage III (n=3), stage IV (n=4), and stage IVs (n=3) groups, respectively. Based on COG, on the other hand, the patients were divided into the low-risk (n=8), intermediate-risk (n=8), and high-risk (n=3) groups. The postoperative complication rate was 29%. One patient died from complications from chemotherapy. The other 18 patients' mean follow-up period was 77.7 months. The differences between the postoperative complication rate, proportion of early-stage tumor, and overall survival of the prenatal and postnatal groups were not statistically significant (p=0.446, p=0.607, p=0.414). Conclusion: NBL showed favorable outcomes but relatively higher postoperative complications. There seem to be no significant statistical differences in the postoperative complications, proportion of early-stage tumor, and overall survival between the prenatally diagnosed group and the postpartum diagnosed group.

• Journal of Audiology & Otology
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• 제23권1호
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• pp.20-26
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• 2019

Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

• 대한청각학회지
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• 제23권1호
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• pp.20-26
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• 2019

Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

• Clinical and Experimental Pediatrics
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• 제48권8호
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• pp.846-856
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• 2005

목 적 : 최근 심장 기능 평가에 많이 사용되는 TDI 지표들에 대해서 우리나라의 정상 소아에 대한 연구가 아직 미흡한 실정이다. 이에 정상 소아 72례(남아 : 42례, 여아 : 30례)를 대상으로 한 TDI 및 31례를 대상으로 한 M-형 심초음파 검사를 이용한 지표들에 대한 계측치를 확인하고, 이러한 계측치에 여러 변수들(몸무게, 심박동수, 측정한 위치 등)이 미치는 영향에 대해서 관찰하였다. 방 법 : 선천성 심질환이나 심장에 영향을 미칠 수 있는 질환이 없는 건강한 소아를 대상으로 하여, 심첨 4방도, 심첨 2방도의 여러 부위에서 PW-TDI를 이용하여 최대 심근 속도를 측정하고, 측정 부위에 따른 계측치의 차이, 나이, 몸무게 및 심박동수 등이 이러한 측정치들에 미치는 영향에 대해서 연구하였다. 또한 심첨 4방도에서 각각의 판막륜 방향으로 M-형 심초음파 검사를 시행하여 나이, 몸무게 및 심박동수와 연관 관계가 있는지 알아보았다. 또한 M-형 심초음파 검사에서 측정한 값들과 TDI 계측치들과의 관계에 대해서도 연구하였다. 결 과 : TDI로 측정한 여러 변수들은 남녀, 심초음파 기기간 및 검사를 시행한 의사간에는 의미있는 차이를 보이지 않았다. 판막륜과 판막륜 및 심첨의 중간 부위에서 측정한 값간에는 판막륜에서 측정한 값들이 의미있게 높게 측정되었으며, 우심실 측벽의 측정치가 심실 중격 및 좌심실 부위에서 측정한 값보다 높았다. 심근 단축률과 TDI 측정치간에는 상관 관계를 보이지 않았다. 심박동수와의 상관 관계를 보면 S-및 E-파형의 경우 심박동수와 상관 관계가 없었으나, A-파형 및 A/E 비는 심박동수와 양의 상관 관계를 보였다. 몸무게와의 상관 관계도 측정한 부위 및 계측치 들마다 일정한 상관 관계를 보여 주지는 못하였다. M-형 심초음파 검사로 측정한 판막륜의 움직임은 성별간에 유의한 차이를 보이지 않았으며, ALD는 몸무게와 양의 상관 관계를, 이동률은 음의 상관 관계를 보이는 경향이 있었다. 그러나 이동률과 TDI 계측치들 간에는 유의한 상관 관계를 발견할 수 없었다. 결 론 : 정상 소아들에서 TDI를 이용하여 최대 심근 속도를 측정하고, 또한 M-형 심초음파 검사를 이용한 판막륜의 움직임을 관찰해 보았다. 이러한 계측치들을 토대로 좀더 많은 례를 통한 한국 소아들의 TDI 및 M-형 심초음파 검사를 이용한 판막륜의 움직임에 대한 정상치를 확립하여야 하겠으며, 선천성 및 후천성 심질환을 가진 환아들에서의 임상 적용을 기대해 본다.

• Journal of Chest Surgery
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• 제44권2호
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• pp.115-122
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• 2011

Background: The intramural coronary artery has been known as a risk factor for early death after an arterial switch operation (ASO). We reviewed the morphological characteristics and evaluated the early and mid-term results of ASO for patients with an intramural coronary artery. Materials and Methods: From March 1994 to September 15th 2010, 158 patients underwent ASO at Dong-A and Pusan National University Hospitals for repair of transposition of the great arteries and double outlet right ventricle. Among these patients, 14 patients (8.9%) had an intramural coronary artery. Mean age at operation was $13.4{\pm}10.2$ days (4 to 39 days) and mean body weight was $3.48{\pm}0.33$ kg (2.88 to 3.88 kg). All patients except one were male. Eight patients had TGA/IVS and 4 patients had an aortic arch anomaly. Two patients (14.3%) had side-by-side great artery relation, of whom one had an intramural right coronary artery and the other had an intramural left anterior descending coronary artery. Twelve patients had anterior-posterior relation, all of whom had an intramural left coronary artery (LCA). The aortocoronary flap technique was used in coronary transfer in 8 patients, of whom one patient required a switch to the individual coronary button technique 2 days after operation because of myocardial ischemia. An individual coronary button implantation technique was adopted in 6, of whom 2 patients required left subclavian artery free graft to LCA during the same operation due to LCA injury during coronary button mobilization and LCA torsion. Results: There was 1 operative death (7.1%), which occurred in the first patient in our series. This patient underwent an aortocoronary flap procedure for coronary transfer combining aortic arch repair. Overall operative mortality for 144 patients without an intramural coronary artery was 13.2% (19/144). There was no statistical difference in operative mortality between the patients with and without an intramural coronary artery (p>0.1). There was no late death. The mean follow-up duration was $52.1{\pm}43.0$ months (0.5 to 132 months). One patient who had a subclavian artery free graft required LCA stenting 6.5 years after surgery for LCA anastomotic site stenosis. No other surviving patient needed any intervention for coronary problems. All patients had normal ventricular function at latest echocardiography and were in NYHA class 1. Conclusion: The arterial switch operation in Transposition of Great Arteries or Double Outlet Right Ventricle patients with intramural coronary can be performed with low mortality; however, there is a high incidence of intraoperative or postoperative coronary problems, which can be managed with conversion to the individual coronary button technique and a bypass procedure using a left subclavian free graft. Both aortocoronary flap and individual coronary button implantation techniques for coronary transfer have excellent mid-term results.

• 대한유전성대사질환학회지
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• 제5권1호
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• pp.65-75
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• 2005

목적: 뮤코지방증 유형 II와 III은 리소좀 효소인N-acetylglucosaminyl-1-phosphotransferase (UDP-N-acetylglucosamine, GlcNAc-phospho-transferase)의 결손에 의해 초래되며, 상염색체 열성으로 유전되는 질환이다. ${\alpha}/{\beta}/{\gamma}$ subunit로 구성되는 이 효소의 결핍으로 인해 리소좀으로 운반되는 수십 종류의 효소들에 mannose-6-phosphate(M6P)를 부착하는 과정에 장애가 생겨 분해되지 않은 물질이 축적되어 질병이 초래된다. 이 질환에 있어서 산전 진단과 유전 상담을 위해서는 상기 효소의 해당 유전자가 밝혀져 있어야 하나, 현재 이 효소의 ${\gamma}$ subunit를 암호화하는 유전자가 GNPTAG에 해당된다고 밝혀져 있을 뿐 ${\alpha}/{\beta}$ subunit을 암호화하는 GNPTA에 해당하는 유전자는 밝혀져 있지 않고 돌연변이 역시 보고된 적이 없다. 본 연구는 리소좀 효소의 인산화에 관여하는 N-acetylglucosamine-1-phospho-transferase의 결함이 있는 환자의 섬유아세포를 이용하여 리소좀 연관 신규 유전자를 찾아내고, 그 유전자를 대상으로 돌연변이를 규명하고자 하였다. 방법: 이를 위해 5명의 환자와5명의 연령, 성별이 일치하는 정상아의 섬유아세포를 계대 배양하여 이 세포를 이용하여 수행한 subtractive hybridization을 통해 신규 유전자를 탐색하고, 신규 유전자를 대상으로 돌연변이 분석을 수행하였다. 결과: 연구 결과 환자에서 발현이 증가된 유전자 73개와 발현이 감소된 유전자 50개를 밝혀냈다. 분석된 유전자 중에서 MGC4170이환자에서는 발현되지 않으나 정상인에서는 발현됨을 발견하였고, 이 유전자가 아직 밝혀지지 않은 GNPTA로 확인되어 환자를 대상으로 돌연변이 분석을 시행하였다.분석 결과 기존에 돌연변이가 보고되었던 GNPTAG에는 돌연변이가 없었으나, MGC4170에는 7개의 돌연변이가 발견되었다. 본 연구는 GlcNAc-phosphotransferase의 ${\alpha}/{\beta}$ subunit에 해당되는 MGC4170의 최초 돌연변이 보고이다. 결론: 본 연구를 통해 뮤코지방증 II형과 III형에서 발현되는 유전자 군을 파악할 수 있었으며, 동시에 MGC4170 돌연변이를 규명함으로써 이 질환의 병리 기전 연구와 산전 진단에 기여하고자 한다.

• Journal of Chest Surgery
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• 제34권10호
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• pp.754-762
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• 2001

배경: 영낡치대 흥부외과학교실에서 1989년부터 1998년 사이에 대혈관전위로 동맥전환술을 받고 6개월 이상 추적관찰한 환자 8례를 대상으로, 동맥 전환술의 효용도를 평가하기 위해 반복적인 심초음파 검사를 시행한 후 그 자료를 후향적으로 분석하였다. 대상 및 방법: 추적관찰기간은 평균 4.1년이었고 최단 6개월에서 최장 11년이었다. 대성환자의 연령은 평균 29일(범위 3∼56일)이었고 체중은 평균 3.6kg(범위 2.6∼4.8kg)이었다. 술 전 진단은 TGA+VSD가 5례, TGA+IVS가 3례이었다. 좌심실 shortening fraction, 좌심실 수축기 시간간격(left ventricle systolic time interval, LVSTI), 우심실 수축기 시간간격(right ventricle systolic time interval, RVSTI), 그리고 좌심실구축률(EF)을 측정하여 좌심실의 기능을 평가하였다. 대동맥과 폐동맥의 최고 수축기압차 속도 (peak systolic pressure gradient velocity, PSPGV), 판막의 폐쇄부전상태, 좌심방/대동맥비(LA/Ao ratio), 대동맥과 폐동맥 근부의 크기, 등을 정상치와 비교하여 판막의 기능과 대혈관의 성장을 평가하였다. 결과: 좌심실구축률은 평균 65.0+9.03%이었으며 추적관찰 동안 시간이 경가함에 따라 대체로 증가하는 경향을 보였다. 좌심실상행대동맥압차는 평균 15.9mmHg이었고 우심실폐동맥압차는 평균 27.5mmHg이었다. 수축기말 대동맥근부 크기(aortic root dimension at end-systole)는 8례 중 6례에서 동일 연령군의 정상발육 평균치보다 발육이 증가하는 양상이었고 발육과정에 따라 증가하는 양상을 보였다. 수축기말 폐동맥 근부 크기(PA root dimension at end-systole)는 동일연령군의 정상발육 평균치와 비교할 때 비슷한 성장경과를 보였다. 술후 판막 폐쇄부전의 변동을 보면 폐동맥판막폐쇄부전은 8례 중 5례에서 있었고 1례에서 2도이었고 그 외는 1도 이하이었다. 대동맥판막폐쇄부전은 8례 중 술전 0도에서 술후 1도로 변동한 경우가 6례였다. 이상과 간이 폐쇄부전이 있더라도 대부분 1도 이하이었기 때문에 인상적인 의의는 없었다