• 제목/요약/키워드: SCOLIOSIS

검색결과 309건 처리시간 0.023초

Pectus Excavatum and Pectus Carinatum: Associated Conditions, Family History, and Postoperative Patient Satisfaction

  • Kuru, Pinar;Cakiroglu, Aylin;Er, Aynur;Ozbakir, Hincal;Cinel, Ali Emin;Cangut, Busra;Iris, Merve;Canbaz, Berkay;Picak, Ebru;Yuksel, Mustafa
    • Journal of Chest Surgery
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    • 제49권1호
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    • pp.29-34
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    • 2016
  • Background: Pectus excavatum (PE) and pectus carinatum (PC) are the most common chest wall deformities. In this study, we aimed to characterize how patients obtained information about these deformities, as well as patients' family history, associated medical problems, and postoperative satisfaction after the Nuss and Abramson procedures. Methods: This cross-sectional retrospective study included patients who were operated by a single surgeon between 2006 and 2013. Follow-up calls were made after approval of our institution's ethics committee. We reached 207 of the 336 PE patients (61.6%) and 73 of the 96 PC patients (76%). Results: The majority of the patients were male (85% of the PE patients and 91.8% of the PC patients). The age of diagnosis of PE was $14.52{\pm}0.51years$ and the age at the time of operation was $17.89{\pm}0.42years$; for PC patients, the corresponding ages were $15.23{\pm}0.55years$ and $16.77{\pm}0.55years$, respectively. A total of 70% of the PE patients and 63.8% of the PC patients obtained information about pectus deformities through the Internet. In 27.1% of the PE patients with an associated anomaly, 57.1% (n=13) had scoliosis, while 41.1% of the PC patients with an associated anomaly had kyphosis (n=5). Postoperative satisfaction, as evaluated on a scale from 0 to 10, was $8.17{\pm}0.15$ for PE patients and $8.37{\pm}0.26$ for PC patients. The postoperative pain duration was $51.93{\pm}5.18days$ for PE patients and $38.5{\pm}6.88days$ for PC patients. Conclusion: In this study, we found that most patients with pectus deformities were male. The Internet was an important resource for patients to learn about their deformities. Family history and associated anomalies were identified as important aspects for consideration in the clinical setting. The patients reported high levels of postoperative satisfaction, and pain management was found to be one of the most important elements of postoperative care.

경추 질환환자의 임상증례 분석연구 (A Study Clinical Analysis of Cervical Spine disease patient's)

  • 김기복
    • 한국방사선학회논문지
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    • 제1권3호
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    • pp.35-40
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    • 2007
  • 본 연구에 참여한 대상자는 서산시에 거주하는 자로 2007년 1월 1일부터 2007년 11월 31일까지 본원에 내원한 환자 중 방사선 경추 전 후면, 측방향 촬영을 실시하여 총 113명(40세 이하)을 대상으로 조사하여 다음과 같은 결과를 얻었다. 1) 연령의 분포는 14~40세 까지로 남자 57명(50.4%), 여자 56명(49.6%)이었으며, 연령그룹이 30~40세 80명(70.8%), 20~29세 27명(23.9%)에서 많은 빈도를 나타냈다. 2) 경부통의 발생 원인으로는 교통사고, 실족, 원인 모름이 대부분으로 조사 되었는데 원인 알 수 없음이 81명(71.7%)으로 가장 많이 나타났으며, 증상 발현되는 시기는 만성 87명(77%)적으로 발현되는 것으로 나타나 경부통의 발생원인과 증상발현과의 통계적 유의성이 있는 것으로 나타났다. 3) 전체 113명 중 20~29세 27명(23.9%), 30~40세 80명(70.8%)로 증상발현이 급성, 만성 모두 높은 분포를 보였다. 4) 본 연구자는 전체 113명 중 왼쪽 견부 39명(34.5%), 경추부위 31명(27.4%), 양쪽 견부 20명(17.7%)에서 각각 주요 통증이 있음을 알 수 있었고, 측만된 방향으로는 왼쪽측만 62명(54.9%)이 가장 많은 빈도로 나타났다. 5) 전 후 만곡방향에서 전만곡 48명(42.5%)으로 나타났으며, 수축기 혈압에서는 160mmHg에서 전만곡 19명(16.8%), 이완기 혈압에서는 총 69명(61.0%)이 전만곡 31명(27.4%)이 100mmHg으로 나타났다.

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A Computed Tomography Analysis of the Success of Spinal Fusion Using Ultra-Low Dose (0.7 mg per Facet) of Recombinant Human Bone Morphogenetic Protein 2 in Multilevel Adult Degenerative Spinal Deformity Surgery

  • Liu, Gabriel;Tan, Jun Hao;Yang, Changwei;Ruiz, John;Wong, Hee-Kit
    • Asian Spine Journal
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    • 제12권6호
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    • pp.1010-1016
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    • 2018
  • Study Design: Retrospective cohort study. Purpose: To report on spinal fusion assessment using computed tomography (CT) after adult spinal deformity (ASD) surgery using ultra-low dose recombinant human bone morphogenetic protein 2 (RhBMP-2). Overview of Literature: The reported dose of RhBMP-2 needed for successful spinal posterolateral fusion in ASD ranges from 10 to 20 mg per spinal level. This study reports the use of ultra-low dose of RhBMP-2 (0.07 mg per facet) to achieve spinal fusion in multilevel ASD surgery. Methods: Consecutive patients who underwent ASD surgery using ultra-low dose RhBMP-2 were recruited. Routine postoperative CT analysis for spinal fusion was performed by two spine surgeons. Inter-observer agreement was calculated for facet fusion (FF) and interbody fusion (IBF) at 6 and 12 months after the procedure. Results: Six consecutive ASD patients with a mean age of 62 years (28-72 years) were examined. Each patient received a total dose of 12 mg with an average dose of $0.69{\pm}0.2mg$ (0.42-1 mg) per single FF and $1.38{\pm}0.44mg$ (0.85-2 mg) for IBF. Total 131 FF and 15 IBF were examined in the study, with 88 FFs and nine IBFs being analyzed specifically at 6 months after the surgery. FF and IBF reported by surgeons A and B at 6 months were 97.7% vs. 91.9% FF, respectively (${\kappa}=0.95$) and 100% vs. 100% IBF, respectively (${\kappa}=1$). Two patients underwent longitudinal follow-up CT at 12 months, and the FF rates reported by surgeons A and B were 100% vs. 95.8%, respectively (${\kappa}=0.96$). Five out of nine facet (56%) non-unions were identified at the cross-links. The remaining four facet pseudarthrosis were noted at 1-2 spinal levels caudal to the cross-links. At the final clinical follow-up, there was no rod breakage, deformity progression, neurological deficit, or symptom recurrence. The Oswestry Disability Index improved by an average of $32.8{\pm}6.3$, while the mental component summary of the 36-item Short-Form Health Survey improved by an average of $4.7{\pm}2.1$, and physical component summary improved by an average of $10.5{\pm}2.1$. Conclusions: To our knowledge, this is the first study to report a CT that defined 92%-98% FF and 100% IBF using the lowest reported dose of RhBMP-2 in multilevel ASD surgery. The use of ultra-low dose RhBMP-2 reduces the RhBMP-2 related complications and healthcare costs.

F-scan System을 이용한 4가지 가방휴대방법에 따른 보행 시 족저압의 변화 분석 (Analysis of Changes in Plantar Pressure While Walking in 4 Positions to Carry a Bag using the F-scan System)

  • 이준철
    • 문화기술의 융합
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    • 제4권4호
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    • pp.439-448
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    • 2018
  • 본 연구에서는 가방의 휴대 방법이 보행 시 족저압에 어떠한 변화를 일으키는지 알아보기 위하여 정상 성인 남녀 33명을 대상으로 가방을 휴대하지 않고 보행, 가방을 양쪽어깨에 메고 보행, 가방을 하나의 한쪽어깨에 메고 보행, 가방을 한쪽 손으로 들고 보행하기 등 4가지 조건에서 F-scan system을 이용해 족저압을 측정하였다. 실험을 통해 얻어진 족저압의 변화와 좌 우측 발에서의 비대칭성을 분석하였다. 네 가지 가방 휴대방식 간에 부위별 족저압을 비교해 본 결과 좌측 발은 족지와 중족을 제외하고 다섯 가지 조건 간에 유의한 차이를 보였고, 우측 발은 제4,5번 중족골두를 제외하고 모두 유의한 차이가 나타났다(P>.05). 이를 종합해 볼 때 가방을 등 뒤로 양쪽 어깨에 메는 방법을 제외하고는 어떤 방법이 발에 최소한의 부담을 주는 최선의 방법인지는 본 실험의 족저압 변화 양상을 통해서 판단하기에는 다소 부족한 면이 있다고 사료된다. 앞으로의 연구에서는 가방 휴대 방법에 따른 족저압의 변화에 대한 연구 및 비대칭성 부하가 측만증이나 후만증과 같은 비정상적 자세를 치료하는데 효과적으로 사용할 수 있는 방법에 대해서도 연구가 진행되어야 할 것이다.

약침치료(藥鍼治療)를 통한 요통환자(腰痛患者)의 호전도(好轉度)에 관한 임상적(臨床的) 관찰(觀察) (Clinical Observation about the Extent of Improvement of Low Back Pain Patient through Medi-acupuncture Therapy)

  • 육태한
    • 대한한의학회지
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    • 제16권1호통권29호
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    • pp.184-197
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    • 1995
  • After 45 patients examined as to the result of medical treatment among the ones who came to Dept. of Pain Clinic, Oriental Medical Hospital, Chunju Woosuk University complaining low back pain chiefly from Dec/19/1994 to Feb/7/1995 for 50 days or so were observed clinically, the results were obtained as follows: 1. In duration of the case history, acute stage(37.8%) was the most predominant, and subacute stage(35.6%) and chronic stage(26.7%) were revealed in turn. 2. In opinions of radiation, Spondylosis(26.7%) was the most predominant, Scoliosis(15.6%) and HIVD(11.1%) were revealed in order, and 3 cases were revealed to be negative. 3. In the radiating pain of the lower limb, the radiating pains of the left lower limb were the most predominant and those of the right lower limb and those of both lower limbs were revealed in turn. By the way, 31.1% of patients didn't suffer from the radiating pain of the lower limb. 4. In the grade of the seriousness of subsective symptom, Grade 2(66.7%) was the most predominant, and Grade 3, Grade 4, and Grade 1 followed it in order. 5. In the period of the treatments of medi-acupuncture, 2-5 day treatments(31.1%) were major and 6-10 day treatments(26.7%), 16-20 day treatments(11.1%), 26-30 day treatments(11.1%), over 31 day treatments(11.1%), 11-15 day treatments(4.4%), and 21-25 day treatments(4.4%) followed it by turns. Thus 2-10 day treatments are 57.8% and under 30 day treatments are 57.8% of all. 6. In the frequency of use of each medi-acupuncture, V was most frequency used in 41 cases(91.1%), and 11 cases of HN(24.4%), 8 cases of MOK(17.8%), 4 cases of OK(8.9%), 2 cases of B(4.4%), and a case of I(2.2%) were revealed in turn. 7. In the effect of treatments, 10 cases(22.2%) were excellent, 25 cases(55.6%) were good, 5 cases(11.1%) were fair, and 5 cases(11.1%) were poor. As the result, 88.9% of all changed for the better and all of these were improved within the third trial. 8. The effect of the treatments per durations was 100% in acute stage, 93.8% in subacute stage, and 66.7% in chronic stage. According to that, it was reavealed that the rate of treatments decreased as it came near to the chronic stage. 9. The effect of treatments per radiating pains was 87.5% in the radiating pains of the left lower limb, 81.8% in those of the right lower limb, 100% in those of both lower limbs, and 92.9% in case that patients have no radiating pains. So in the rate of treatments on radiating pains of the lower limbs, the case of both sides or no radiating pains was higher than that of one side. 10. In the effect of treatments per the condition of patients, Grade 4 showed 100% of improvement, Grade 3 showed 90.9% of improvement, Grade 2 showed 86.7% of improvement, and Grade 1 showed 100% of improvement. 11. In the effect of treatments per contents of treatments, the group treated with medi-acupuncture therapy, herb medication therapy, acupuncture therapy, and physiothrapy at the same time(Group 1) showed 100% of improvement, the group treated with medi-acupuncture therapy, acupuncture therapy, and physiotherapy simultaneously(Group 2) showed 73.7% of improvement, and the group treated with medi-acupuncture therapy and acupuncture therapy at the same time(Group 3) showed 100% of improvement. 12. 2-5 day treatments showed 78.6% of improvement, 6-10 day treatments showed 91.7% of improvement, and over 31 day treatments showed 100% of improvement. As the result, genarally the longer the period of treatment was, the better the effect of treatment was. 13. When only V was used, the rate of treatment was 96.2%. When only HN was used, the rate of treatment was 100%. When only MOK was used, the rate of treatment was 100%. When V and HN were used at the same time, the rate of treatment was 33.3%. When V and MOK were used at the same time, the rate of treatment was 100%. When V and OK were used at the same time, the rate of treatment was 100%. When V, HN, and MOK were used at the same time, the rate of treatment was 100%. When V, OK, and MOK were used at the same time, the rate of treatment was 100%. When V, MOK, and B were used at the same time, the rate of treatment was 100%. When V, HN, OK, and I were used at the same time, the rate of treatment was 100%. When V, HN, and B were used at the same time, the rate of treatment was 100%.

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사상의학의 4체질 분류에 따른 각 체질별 전신조정술 체형분포 양상과 그에 따른 정적 자세특성 및 동적 운동증감 양상에 관한 실증적 연구 (Sasang Constitution Classification related to an aspect of distribution GCM(General Coordinative Manipulation) Body Type and Experimental Study based on the character of Static Posture and Dynamic Hyper/Hypo-mobility Pattern)

  • 문상은;조현래;오창선;김성현
    • The Journal of Korean Physical Therapy
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    • 제17권4호
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    • pp.505-517
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    • 2005
  • The Purposes of this study were to find complementary connectible new factors that analyzed correlation relate of Sasang Constitution and GCM Body Type in Static Posture and Dynamic Hyper/Hypo-mobility Pattern. Method of this study was asymtomatic volunteers 232(unmarried man and women), conducted from September 1 to December 31. In this main study progressing step diagnosised first, Constitution of Sasang medicine after being classified into four groups of Soyangin, Taeumin, Soeumin, Taeyangin diagnosis of GCM Body Type and progressed that related Static Posture and Dynamic Hyper/Hypo mobility Pattern. The results are as follows. Distribution of Sasang Medicine Constitution proved to be Taeyangin 13, Soyangin 66, Taeumin 67, Soeumin 86 respectively. Distribution of GCM Body Type proved I Body Type 72(31.0%), II Body Type 54(23.3%), III Body Type 89(38.4%), IV Body Type 17(7.3%). The distribution of Sasang Constitution according to GCM Body Type was that; I Body Type was distributed in the order Soeumin 34.7%(25), Taeumin 31.9%(23), Soyangin 30.6%(22), Soeumin 34.7%(25) is the most people. II Body Type was distribution of in the order Soeumin 42.6%(23), Soyangin 5.9%(14), Taeumin 24.1%(13), Soeumin 42.6%(23) is the most people. III Body Type was distribution of in the order Soeumin 37.1%(33), Taeumin 30.3%(27), Soyangin 28.1%(25), Soeumin 37.1% is the most people. IV Body Type proved high distribution each of Soeumin 29.4%(5) and Soyangin 29.4%(5). In case of main left side posture character of spine and limbs about I Body Type 72 persons with left scapular and ilium forward tilted pattern proved in the order high distribution iliac crest thigh and scapular high 70(97.2%), gluteal fold high and scapular abduction 69(95.8%), lumbar scoliosis 65(90.3%). Also, in case of right side posture character proved in the order high distribution deep gluteal fold 69(95.8%), umbilical deviation 68(94.4%). Incase of main left side posture character of spine and limbs about n Body Type 54 persons proved in the: order high distribution knee hyperextension 50(92.6%), shoulder deviation 49(90.7%) etc. Also, in case of right side posture character proved in the order high distribution pelvic deviation 53(98.1%), iliac crest thigh 52(96.3%), hip flexion and ankle inversion 51(94.4%) etc. In case of main left side posture character of spine and limbs about III Body Type 89 persons proved in the order high distribution shoulder deviation 87(97.8%), scapular abduction 86(96.6%), scapular high 85(95.5%) etc. And in case of right side posture character proved in the order high distribution pelvic deviation and iliac crest thigh 86(96.6%) etc. In case of main left side posture character of spine and limbs about IV Body Type 17 persons proved in the order high distribution pelvic deviation, lumbar sciliosis and lumbar lordosis increase 15(88.2%) etc. Also, in case of right side posture character proved in the order high distribution wrist dorsiflexion 16(94.1%), thickened achilles tendon etc.

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우연히 발견된 무증상 구루병 8예 (Eight cases of incidentally diagnosed as subclinical rickets)

  • 서지영;김규리;이희우;안영민
    • Clinical and Experimental Pediatrics
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    • 제51권8호
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    • pp.812-819
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    • 2008
  • 목 적 : 비타민 D는 뼈의 무기질화에 필수적인 역할을 하는 호르몬으로 부족하게 되면 구루병이 생길 수 있다. 본 연구는 비타민 D 결핍증이 잘 발생하는 위험군을 알아보고 그 예방 대책에 대한 관심을 고지하고자 계획하게 되었다. 방 법 : 2003년 3월부터 2007년 7월까지 노원을지병원 소아과에 내원한 환아들중에서 검사 상 우연히 알칼리성인산분해효소가 증가해 있으면서 방사선사진으로 무증상 구루병으로 진단받은 환아들에 대하여 후향적으로 그 특징과 치료 경과를 조사하였다. 결 과 : 남아 6명과 여아 2명의 총 8명이 무증상 구루병으로 진단되었다. 이들의 진단 시 연령은 $12.6{\pm}5.8$개월이었으며, 1월부터 7월 사이에 진단되었고 동반질환으로 폐렴, 요로감염, 장염, 철결핍성 빈혈이 있었다. 이들은 모두 모유 수유를 위주로 하고 있었고, 진단당시 2명의 환아가 몸무게가 3백분위수 미만으로 성장 장애를 보이고 있었다. 진단 시 평균 혈중 알칼리성인산분해효소는 $1,995.8{\pm}739.5IU/L$로 증가되어 있었고, 평균 혈중 칼슘은 $9.5{\pm}0.6mg/dL$, 평균 혈중 인은 $3.6{\pm}1.5mg/dL$였다. 평균 intact-PTH는 $214.8{\pm}155.9pg/mL$로 증가되어 있었고 25-hydroxyvitamin D는 2명을 제외한 6명의 환아에서 30 ng/mL 미만으로 감소되어 있었다. 모든 환자들은 손목 방사선 촬영에서 구루병양 변화를 보이고 있었으나 외관상 골기형이나 발달 장애는 없었다. 이들 중 6명은 3개월간 calcitriol을 투여한 후 생화학적인 검사와 손목 방사선 사진 상의 변화는 호전되었고 정상적으로 성장하였다. 2명은 치료하지 않은 채 저절로 호전되었으며 역시 외관상 성장장애를 보이지는 않았으나 2년간의 추적 관찰 후 현재 1명은 무릎 관절면의 골간단 이형성을 보이고 있으며 다른 1명은 일시적인 척추 측만증을 보였다가 호전되고 있다. 결 론 :무증상 구루병으로 진단된 환아들이 비타민 D 결핍이나 부족으로 인한 것으로 생각되며 모유 수유아에서 비타민 D 결핍증의 빈도가 높으므로 알칼리성인산분해효소가 높은 환자에서는 이를 의심하여 25-hydroxyvitamin D와 손목 방사선 사진을 검사하여 확인하여야 하며 이들 중 일부는 비타민 D 결핍성 구루병으로 진행할 수 있으므로, 모유 수유아에서 비타민 D 보충에 대한 교육이 필요하리라 생각된다.

전 척추 전.후 방향 검사 시 AEC Mode와 Fix Mode에서 PC-Based Monte Carlo Program을 이용한 장기선량 및 유효선량 평가 (Evaluation of Organ and Effective Dose using A PC-Based Monte Carlo Program in AEC Mode and Fix Mode for the whole spine antero-posterior radiography)

  • 김정진;장성원;박장흠;이관섭;하동윤
    • 대한디지털의료영상학회논문지
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    • 제14권2호
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    • pp.23-31
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    • 2012
  • There are AEC mode and fix mode to exposure when the whole spine antero-posterior radiography is done by using DR equipment. This study compared the utility of fix mode to AEC mode, by evaluating organ dose and effective dose and by examining the quality of radiographic image. GE DEFINIUM 8000 and ART-200X Rando Phantom manufactured by Flukebiometical were used for this study. The Rando phantom was set in front of wall detector of X-rays equipment. AEC mode was set at 80kVp and Fix mode was set at 80kVp, 25mAs, 32mAs, 40mAs, and 50mAs. Whole spine AP image were aquired by combining C, T-L and L-S spine images obtained through 3 exposures. When obtaining C, T-L and L-S spine images, were checked for Air kerma (mGy) value calculated by UNFORS Xi meter attached at the phantom surface of center of radiation field. The effective and organ doses were compared by PCXMC program (PC-Based Monte Carlo Program). The quality of obtained radiographic image was evaluated visually by 3 radiologists using resolution chart. When the effective doses was calculated based on tissue weighting factor of ICRP-103, 1.278mSv was measured by AEC mode, and Fix mode measured 0.405mSv at 25mAs, 0.518mSv at 32mAs, 0.649mSv at 40mAs, and 0.810mSv at 50mAS. In addition, the organ dose measured with esposure at 25mAs by Fix mode was almost equivalent to the organ dose by AEC mode, at the esophagus, thyroid, oral mucosa, salivaly glands located at the cervical spine part, while the organ dose by Fix mode was in general lower than the organ dose by AEC mode at the other organs. When Fix mode at 32mAs, 40mAs, and 50mAs was compared to AEC mode for organ dose in 26 organs, AEC mode had higher measurement in 21 organs but not for than brain, trachea, thyroid, oral mucosa, and salivaly glands which are located at the cervical spine part. The image quality evaluated by resolution test chart was much higher with AEC mode than the quality with Fix mode at all exposure conditions. However, while the image quality of cervical spine exposured at 50mAs by Fix mode was lower than the quality of AEC mode, thoraco-lumbar spine and lumbo-sacral spine were calculated and the quality was similar to AEC mode. Scoliosis occurs mainly at thoraco-lumbar and lumbo-sacral spine, not at cervical spine. Compared to AEC mode, Using the appropriate protocol (80kVp, 50mAs) of fix mode for whole spine AP radiography was thought to be useful because the image quality of the thoraco-lumar and lumbo-sacral spine was similar on AEC mode, Also organ and effective doses can be decreased with Fix mode. Therefore, It is considered that fix mode can be used properly with AEC mode for whole spine AP radiography when considering patient's body posture.

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Lesch-Nyhan 증후군 장기 추적관찰: 분홍 기저귀 (A Long Term Follow Up Two Cases of Lesch-Nyhan Syndrome Pink Diaper)

  • 김재영;송웅주;김봉옥;하비리비;김숙자
    • 대한유전성대사질환학회지
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    • 제24권1호
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    • pp.26-36
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    • 2024
  • Lesch-Nyhan syndrome (LNS)은 X-염색체 열성 장애로 퓨린 재활용 효소인 hypoxanthine-guanine phosphoribosyltransferase (HPRT)의 결핍으로 인해 발생하는 선천성 대사질환이다. 임상 증상은 잔여 효소 활성도 및 유전적 돌연변이에 따라 다양하다. 국내에서는 27례의 LNS 사례가 보고되어 있다. 분홍색 기저귀로 방문했던 2례의 환아중에서 잔여 효소가 전혀 없는 LNS로 사망한 1례와 잔여 효소가 부분적으로 존재하는 1례의 11년간 비교 추적 관찰한 결과를 보고한다. 증례 1: 핑크색 기저귀로 병원에 내원하여 반복적인 구내염으로 치료를 받다가 2개월에 경련발작으로 시작하여 심한 단백질 식품 거부, 발달지연, 퇴행이 있어 뇌성마비로 재활치료를 받던 중 만 6세에 LNS로 진단되어 요산치료로 요산은 정상화 되었으나 심한 불면증과 변비가 관찰되었다. 자해 행동과 척추 측만증, 간질 대발작, 심한 경직을 동반하며 몸통 근육긴장 저하, 무도무정위 운동과 운동실조가 진행성으로 심해졌다. 체중이 줄고 심한 영양실조 상태와 콩팥 모양의 요로 결석, 반복적 재발성 폐렴으로 병원 치료를 받다가 11세에 갑자기 사망하였다. 유전자 검사 결과 반접합성 HPRT1 변종(c.151C>T(p.Arg51Ter))이 밝혀졌다. 요산 수치는 10.5 mg/dl(정상 범위: ~3.5-7.9), HPRT 활성도는 0.02 nmol/hr/spot (10-23.8 nmol/hr/spot)이었다. 증례 2: 핑크색 기저귀로 병원에 방문하여 요산이 높아진 것을 알게 되었고 단백질을 거부하는 식사 습관이 있으며 저체중 상태로 성장하였다. 초등학교에 다니는 정상적인 지능을 가지고 있었고 자해 증상은 전혀 관찰되지 않았으며 정기적인 신장 초음파 검사에서 전혀 요로결석 없이 추적관찰 되었다. 유전자 검사상 반접합성 HPRT1 변이체(c.35A>C(p.Asp12Ala))를 가지고 있었으며 요산 수치와 HPRT 활성도는 11 mg/dL, 0.56 nmol/hr/spot이었다. 신생아 시기 이후까지 핑크색 기저귀가 보이며 심한 단백질 거부, 신경학적인 문제, 및 신장 결석을 동반한 경우 LNS에 대한 감별이 필요하다. 의심이 될 경우 혈청 요산 수치, HPRT 효소 활성도, 그리고 분자 생물학적인 검사가 LNS의 예후를 예측하는데 도움이 될 수 있다.

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