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The strong association of left-side heart anomalies with Kabuki syndrome

  • Yoon, Ja Kyoung;Ahn, Kyung Jin;Kwon, Bo Sang;Kim, Gi Beom;Bae, Eun Jung;Noh, Chung Il;Ko, Jung Min
    • Clinical and Experimental Pediatrics
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    • v.58 no.7
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    • pp.256-262
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    • 2015
  • Purpose: Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center. Methods: A retrospective analysis was conducted for a total of 13 patients with Kabuki syndrome. Results: The median age at diagnosis of was 5.9 years (range, 9 days to 11 years and 8 months). All patients showed the characteristic facial dysmorphisms and congenital anomalies in multiple organs, and the diagnosis was delayed by 5.9 years (range, 9 days to 11 years and 5 months) after the first visit. Noncardiac anomalies were found in 84% of patients, and congenital heart diseases were found in 9 patients (69%). All 9 patients exhibited left-side heart anomalies, including hypoplastic left heart syndrome in 3, coarctation of the aorta in 4, aortic valve stenosis in 1, and mitral valve stenosis in 1. None had right-side heart disease or isolated septal defects. Genetic testing in 10 patients revealed 9 novel MLL2 mutations. All 11 patients who were available for follow-up exhibited developmental delays during the median 4 years (range, 9 days to 11 years 11 months) of follow-up. The leading cause of death was hypoplastic left heart syndrome. Conclusion: Pediatric cardiologist should recognize Kabuki syndrome and the high prevalence of left heart anomalies with Kabuki syndrome. Genetic testing can be helpful for early diagnosis and counseling.

Positional change of the condylar heads after wearing complete denture on dental cone beam CT (치과용 콘빔 CT영상에서 총의치 장착 후 하악과두의 위치변화)

  • Lee, Bong-Ho;Kim, Jae-Duk;Chung, Chae-Heon
    • Imaging Science in Dentistry
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    • v.38 no.1
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    • pp.23-27
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    • 2008
  • Purpose: The aim of this study was to evaluate the change in the position of the mandibular condyle within articular fossa by a CBCT after wearing complete denture (CD). Materials and Methods: CBCT of 34 temporomandibular joints were taken from 9 male and 8 female patients with CB $Mercuray^{TM}$ (Hitachi, Japan) before and after wearing a CD for rehabilitation. Position of mandibular condyle within articular fossa at centric occlusion was evaluated with $Vimplant2.0^{TM}$ (CyberMed, Korea) on the central parasagittal view and curved panoramic coronal view of the condylar head. A statistical evaluation was done with SPSS. Results: The range of anteroposterior positional rate (AP) of condylar head within articular fossa was -16-5 and -10-12 respectively on the right and left sides. Before wearing CD, the AP rate showed discrepancy between right and left sides (p<0.05). After wearing CD, both condyles showed a tendency to decrease in posterior condylar position (right side; p<0.05). The average discrepancy between right and left side in mediolateral positional rate (MD) was 15.5 and 4.5 respectively before and after wearing CD. The improvement was observed in mediolateral relationship of both condylar heads after wearing CD (p< 0.01). Before wearing CD, the average horizontal angle of long axis of condylar head was $79.6{\pm}2.7^{\circ}\;and\;80.1{\pm}5.7^{\circ}$ respectively on the right and left sides. After wearing CD, both condyles were rotated in the same direction in average on axial plane. Conclusion: We observed with CBCT the significant clinical evidence in case of positional change of mandibular condyle after wearing complete denture.

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A Biomechanical Analysis of Judo's Kuzushi(balance-breaking) Motion (유도 팔방기울이기 동작의 생체역학적 특성 분석)

  • Kim, Sung-Sup;Kim, Eui-Hwan;Kim, Tae-Whan
    • Korean Journal of Applied Biomechanics
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    • v.17 no.2
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    • pp.207-216
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    • 2007
  • The purpose of this study was to biomechanical analysis Judo's Kuzushi throwing motion in order to increase the effectiveness of Nage-waja(throwing technique). The Tori was a Judo player with 18 years experience(4th degree) while the Uke was a player with 2 years experience(1st degree). The kinematic data was captured using the Vicon motion system (7 cameras) and the kinetics were recorded by force plates(2 AMTI). The following were the results; While leaning to the front the subject's trunk's angle was $14.5^{\circ}$, the lower limbs angle was $23.8^{\circ}$, knee angle was $179.6^{\circ}$ and the vertical reaction of the left leg was 325.42N(BW 0.34) and the right leg was 233.7N(BW 0.47). While leaning back the subject's trunk's angle was $11.3^{\circ}$, the lower limbs angle was $4.1^{\circ}$, knee angle was $1761^{\circ}$ and the vertical reaction of the left leg was 299.53N(BW 0.43) and the right leg was 441.7N(BW 0.64). While leaning to the left the subject's trunk's angle was $30.8^{\circ}$, the lower limbs angle was $2.7^{\circ}$, knee angle was $175.2^{\circ}$ and the vertical reaction of the left leg was 711N(BW 1.03) and the right leg was 9.2N(BW 0.01). While leaning to the right the subject's trunk's angle was $36.5^{\circ}$, the lower limbs angle was $10.4^{\circ}$, knee angle was $175.2^{\circ}$ and the vertical reaction of the left leg was 13.2N(BW 0.02) and the right leg was 694.7N(BW 1.01). While leaning to the left front corner the subject's trunk's angle was $19.8^{\circ}$ (front) and $15.1^{\circ}$ (left), the lower limbs angle was $17.8^{\circ}$ (front) and $2.4^{\circ}$ (left), knee angle was $177.8^{\circ}$ (front) and $173.9^{\circ}$(left), and the vertical reaction of the left leg was 547.4N(BW 0.8) and the right leg was 117.8N(BW 0.17). While leaning to the right front corner the subject's trunk's angle was $15.4^{\circ}$ (front) and $17.7^{\circ}$ (right), the lower limbs angle was $21.1^{\circ}$, (front) and $5.7^{\circ}$ (right), knee angle was $175.5^{\circ}$ (front) and $178.9^{\circ}$(right), and the vertical reaction of the left leg was 53N(BW 0.08) and the right leg was 622.4N(BW 09). While leaning to the left rear corner the subject's trunk's angle was $9.2^{\circ}$ (back) and $13.8^{\circ}$ (left), the lower limbs angle was $2^{\circ}$, (back) and $5.7^{\circ}$ (left), knee angle was $175.5^{\circ}$ (back) and $172.8^{\circ}$(left), and the vertical reaction of the left leg was 698.2N(BW 1.02) and the right leg was 49.6N(BW 0.07). While leaning to the right rear corner the subject's trunk's angle was $8.9^{\circ}$ (back) and $19.6^{\circ}$ (right), the lower limbs angle was ${0.6^{\circ}}_"$ (back) and $3.1^{\circ}$ (right), knee angle was $174.6^{\circ}$ (back) and $175.6^{\circ}$(right), and the vertical reaction of the left leg was 7.2N(BW 0.01) and the right leg was 749.4N(BW 1.09). It was observed that during the Judo motion Kuzushii the range of the COM varied from $26.5{\sim}39.9cm$. It was concluded that the upper body leaned further than the lower body as there was knee extension. There was high left leg reaction forces while leaning to the left and likewise for the right side. It was therefore deduced that the Kuzushi was a more effective throwing technique for the left side.

Anatomical Distribution of Colorectal Carcinoma in Iran: A Retrospective 15-yr Study to Evaluate Rightward Shift

  • Omranipour, Ramesh;Doroudian, Rana;Mahmoodzadeh, Habibollah
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.1
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    • pp.279-282
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    • 2012
  • Background: Although more than two third of colorectal cancers are localized on the left side, recent studies suggest a right ward shift in anatomical distribution with increase in proximal colon cancers. The aim of the present study was to determine the anatomical distribution of colorectal cancer in a referral center over a 15 year period. Method: Records of patients who underwent colectomy in the Cancer Institute of Iran from 1994 to 2009 were retrieved. Data including anatomical localization, year of diagnosis, patient age and gender, tumor histology and differentiation, and disease stage were extracted. Tumors located from the cecum to the distal transverse colon were classified as right side and those occurring from the splenic flexure to the descending colon as left-sided. Cancer of rectum and recto-sigmoid junction were considered as rectal cancers. Results: A total of 442 patients including 220 (49/8%) men and 222 (50/2%) women with mean age 53 were included. Most patients were in stage II &III (47.1% and 33% respectively). There were 157 (35.5 %) colon cancers and 285 (64.5%) rectal cancers. 43.3% of the colon cancers were right sided and 56.7% were left sided. There was no statistically significant increase in right sided cancer during the period of the study. There were no significant differences in age at diagnosis, gender, grade and stage of tumor between the right and the left sided cancers. Conclusion: No proximal shift over time was identified in our study.

High Grade Sarcoma Arising from the Chest Wall of a Chronic Tuberculous Empyema - A case report - (만성 결핵성 농흉과 동반된 흉벽 악성 육종 - 1예 보고 -)

  • Chung, Won-Jae;Lee, Sung-Ho;Kim, Kwang-Taik;Kang, Moon-Chul;Chung, Jae-Ho;Son, Ho-Sung;Son, Kuk-Hui;Sun, Kyung
    • Journal of Chest Surgery
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    • v.41 no.6
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    • pp.795-798
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    • 2008
  • A 50 year old male patient was admitted due to fever and left upper-quadrant abdominal pain. He had a history of previous treatment for pulmonary TB and splenectomy due to plastic anemia. A large peritoneal abscess with connection to a chronic left side tuberculous empyema thoracis was diagnosed on admission. Chest CT also revealed a soft issue lesion on the left anterior chest wall. Staged drainage of the peritoneal lesion followed by left side pleuropneumonectomy with chest wall resection was performed. The pathologic studies showed a high grade sarcoma of the chest wall.

Autopilot Design for Agile Missile with Aerodynamic Fin and Side Thruster

  • Choi, Yong-Seok;Lee, Ho-Chul;Choi, Jae-Weon
    • 제어로봇시스템학회:학술대회논문집
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    • 2003.10a
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    • pp.508-513
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    • 2003
  • This paper is concerned with a mixed control with aerodynamic fin and side thrusters applied to an agile missile using two-time scale dynamic inversion and linear time-varying control technique. The nonlinear dynamic inversion method with the weighting function allocates the desired control inputs (aerodynamic fin and side thrusters) to track a reference trajectory, and the time-varying control technique guarantees the robustness for the uncertainties. Closed-loop stability is achieved by the assignment of the extended-mean of these linear time-varying eigenvalues to the left half complex plane. The proposed schemes are validated by nonlinear simulations.

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The Effects of Quantitative Occlusal Force on Size of Temporomandibular Joint Space (정량적 교합력이 측두하악관절강 크기에 미치는 영향)

  • Woo-Cheon Kee
    • Journal of Oral Medicine and Pain
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    • v.18 no.1
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    • pp.21-29
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    • 1993
  • The purpose of this study was to evaluation of temporomandibulr joint space according to increasing the occlusal force on working and non-working side during unilateral bite. For the study, 22 normal adults, age ranged from 23 to 25, who had no symptoms on TMJ area and masticatory muscles and had normal or class I molar relationship were selected. Transcranial TMJ radiograph was taken during unilateral biting with sensor of Bite force checker (Nihon Kohden Kygyo Co.Ltd., Japan) on each 1st molar teeth of right and left side which were forced each 0Kg, 10Kg, 20Kg and 30Kg by use of Accurad-200 (Denar Corperation's product). The radiographs were traced on the screen, which was magnified by 5. The size of temporomandibular joint space at anterior, superior and posterior compartment were measured with Dumas's method (reference line of between squamotympanic fissure and the most inferior point of articular eminence). On the basis of this study, the following results were obtained. 1. Size of anterior TMJ space was tend to decrease on the working side and increase on the non-working side according to increasing the occlusal force, but not significant statistically (p>0.05). 2. Size of superior TMJ space was tend to increase on the working side and decrease on the non-working side according to increasing the occlusal force (p<0.05). 3. Size of posterior TMJ space was tend to decrease on both working ad nonworking side, but non significant statistically.

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CLINICAL AND ELECTROMYOGRAPHICAL STUDIES ON THE PAIN DYSFUNCTION SYNDROMES OF TEMPOROMANDIBULAR JOINT (악관절 동통환자의 임상및 근전도학적 연구)

  • Kim, Jong-Won
    • The Journal of the Korean dental association
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    • v.10 no.2
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    • pp.121-128
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    • 1972
  • 14 patients, whose were attacked pain dysfunction syndrome of temporomandibular joint in Dental College Infirmary, Seoul National University from June 1970 to Dec. 1971, were examined regarding to clinical observation and electromyographical analysis. This paper established the followings: 1. Especially young female was more frequently attacked by pain dysfunction syndrome of Temporomandibular joint. 2. It is suggested that most of joint pain was occurred initially in opening mouth and forcible bite, and left side is more attacked than right side. 3. It was possible that this dysfunction can be occurred by open-bite, premature contact and ill-fitting prosthetic restoration. 4. Hoby, habit and bruxism as causal factors are not markedly related with this dysfunction. 5. Pain attacked regions, in most patients, are preauricular, joint itself, infra-auricular, cervical and external auditory meatus region. 6. In electromyographical studis, the musle activities of affected side of pain dysfunction syndrome are more strong than that of opposite side.

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Coronary Artery Fistula [Report of 2 Cases] (관상동맥루 2례 보)

  • 심성보
    • Journal of Chest Surgery
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    • v.20 no.1
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    • pp.202-208
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    • 1987
  • Congenital coronary artery fistula is a rare condition, and with widespread use of cardiac catheterization, angiography and selective coronary arteriography are being recognized with increasing frequency. Fistula originating from the right coronary artery are more common then those from the left coronary artery. The fistula empties into the right side of the heart in 90% of the cases with the right ventricle being the most common recipient chamber followed by the right atrium and the pulmonary artery. Recently we experienced two cases of congenital coronary artery fistula which originated from the left coronary artery each other. The first case was 17 moth-old-male, who have had the symptoms of frequent URI, dyspnea and continuous murmur in physical examination. The fistulous communication was noted between the left circumflex coronary artery and the right ventricle with aneurysmal dilation of RV wall. The proximal opening of the fistulous tract was directly close with partial aneurysmorrhaphy of RV wall. Also the termination site of fistulous tract in RV chamber was closed. The second case was 35-year-old female, who have had the symptom of exertional dyspnea and continuous murmur in physical examination. The tortuous and dilated fistulous tract was noted between the left anterior descending coronary artery and the pulmonary artery. The proximal opening of the fistula was ligated near the left anterior descending coronary artery with preservation of normal continuity of coronary artery. And the dilated tortuous vessel was excised. Also the terminal site in pulmonary artery was directly closed just above the pulmonic valve. Postoperative hospital courses of two patients were uneventful without any specific complications and discharged without problems.

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Mitral Valve Operation Via Extended Transseptal Approach (확장된 경중격 접근방식을 통한 승모판수술)

  • 김학제
    • Journal of Chest Surgery
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    • v.26 no.12
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    • pp.909-914
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    • 1993
  • Complete and optimal visualization of the mitral apparatus is a prerequisite for accurate repair or replacement of the mitral valve. A vertical left atriotomy just posterior to the interatrial groove is the most commonly used approach. However,exposure can be difficult under certain circumstances,such as small left atrium or reoperation. Other approaches have been advocated to deal with this difficult situations. We used an extended transseptal approach in 10 patients and good clinical results and excellent educational effects were obtained. The extended transseptal approach combines two semicircular atrial incisions circumscribing the tricuspid and mitral annuli anteriorly and superiorly,allowing exposure of the mitral valve by deflecting the ventricular side using stay sutures. The right atrium is opened anteriorly along the atrioventricular sulcus. The atrial septum is incised vertically through the fossa ovalis. Right atrial and septal incisions are joined at the superior end of the interatrial septum and extended across the dome of the left atrium to the left atrial appendage. The mitral valve was replaced in all 10 patients. Four of 10 patients had other simultaneous valve procedure: one had aortic valve replacement: 2 underwent tricuspid annuloplasty: 1 had aortic valve replacement and tricuspid annuloplasty. There was no hospital death and complication. Among the 5 patients who had atrial fibrillation preoperatively,4 had atrial fibrillation postoperatively,1 converted to sinus rhythm. The five patients who were in normal sinus rhythm preoperatively remained in sinus rhythm after replacement. A review of our results with this approach confirms the efficacy and safty of this method. So we recommanded this approach for routine mitral valve procedure,especially difficult situations,such as a small left atrium or the redo operation.

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