• Journal of Interdisciplinary Genomics
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• 제4권2호
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• pp.24-30
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• 2022

Klinefelter's syndrome (KS) is a syndrome with extra X chromosome(s), in XY individuals, characterized by gynecomastia, small testes, and infertility. Additional X chromosomes can be present as variable karyotypic forms, including mosaicism (47,XXY/46,XY). The reported prevalence of KS ranges from one in 500 to one in 1,000 live males, but is probably underestimated. The classic phenotype is small, firm testes and infertility resulting from seminiferous tubule dysgenesis and androgen deficiency. The spectrum of KS includes tall stature with relatively long legs and arm span, decreased body hair, learning disabilities, behavioral problems, poor motor skills, and other important medical issues, such as metabolic syndrome, diabetes, autoimmune diseases, cardiovascular disease, certain neoplasia. The increased risk of certain medical problems in KS can be attributed to a direct effect of the extra X chromosome, the combined action of multiple genomic and epigenetic factors, or the hormonal imbalances. Typically, chromosome analysis is not ordered for adult patients with general medical conditions, except for suspected cases of hematologic and lymphoid disorders. Even though it was found during work-up for certain disorders in adult patient, most physicians do not suspect KS or consider its impact. Therefore, understanding the pathophysiology and variable manifestation in KS is necessary, and discussions with multidisciplinary teams will help to diagnose and treat males with KS.

• 대한물리치료과학회지
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• 제30권4호
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• pp.9-16
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• 2023

Background: Bedridden patients and disabled persons need help from a guardian or caregiver even in performing simple activities of daily living. In particular, for body transfer of them, the use of a transfer lift has been recommended. However, the devices currently in use have limitations in terms of support according to the individual's characteristics. This study aimed to develop a transfer lift device utilizing the patients' body-fitting sling equipped with an air tube inside the sling. In addition, we have conducted usability tests to examine the safety, effectiveness, and satisfaction with this device. Design: This study conducted usability tests with 10 healthy adults. Methods: Customized sling lifts are generally floor-based devices that consisted of a sling that holds the patient's body and a lift that moves the sling to the desired position. One characteristic feature of the device is an air tube, which is used on the sling to allow the patient's body can be adjusted. A usability test was performed in terms of the operators, who operated the device to transfer the patients. Ten operators tried the device and tested its usability. Results: The mean of 10 question for Questions was 4.18. Conclusion: The device can be useful in the advance- ment and commercialization of customized sling lifts, to ensure the safe and efficient transfer of persons with disabilities.

• Journal of Preventive Medicine and Public Health
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• 제57권2호
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• pp.157-166
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• 2024

Objectives: Children with disabilities may exhibit a multitude of symptoms, and treatment requires a multidisciplinary approach for a satisfactory outcome. Lack of awareness among physicians, lack of referral, and lack of inter-sectoral coordination have hindered paediatric practice in Tamil Nadu, a state in India with a striking childhood disability rate that warrants a timely interdisciplinary approach. However, the perspectives of paediatricians on paediatric physiotherapy are unknown. The aim of the study was to investigate the perspectives of practicing paediatric physicians in Chennai on the role of physiotherapy in paediatrics. Methods: For an in-depth exploration, qualitative semi-structured interviews were conducted in person with 10 paediatricians. Audio from the sessions was recorded and transcribed, and data saturation was achieved through iterative analysis. Results: A grounded theory analysis of the results yielded 5 domains under which the perspectives and expectations of the physicians were described, along with the barriers experienced by patients' parents as explained by their paediatrician. The responses highlighted deficits in awareness, structural support, accessibility and direct communication between physicians and physiotherapists. Conclusions: Paediatric physicians have different opinions, and some ignorance persists concerning paediatric physiotherapy. This study warrants a proper structure of the paediatric rehabilitation unit and regular interdisciplinary meetings and focus group discussions to increase access for parents and improve patient outcomes.

• Clinical and Experimental Pediatrics
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• 제59권1호
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• pp.16-23
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• 2016

Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.

• Archives of Plastic Surgery
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• 제33권4호
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• pp.510-513
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• 2006

Purpose: The Rectus abdominis muscle free flap is utilized in various reconstruction surgeries due to easiness in harvesting, consistency of vascular pedicle and reduced donor site morbidity. But rarely, femoral nerve injury during rectus abdominis harvesting can be resulted. We report a case of femoral nerve injury after rectus muscle harvesting and discuss the injury mechanism with the follow-up process of this injury. Methods: To reconstruct the defect of middle cranial base after wide excision of cystic adenocarcinoma of the external ear, rectus muscle free flap was havested in usual manner. To achieve a long vessel, inferior epigastric artery was dissected to the dividing portion of femoral artery and cut. Results: One week after the surgery, the patient noted sensory decrease in the lower leg, weakness in muscle strength, and disabilities in extension of the knee joint resulting in immobilization. EMG and NCV results showed no response on stimulation of the femoral nerve of the left leg, due to the defects in femoral nerve superior to the inguinal ligament. With routine neurologic evaluations and physical therapy, on the 75th day after the operation, the patient showed improvement in pain, sensation and muscle strength, and was able to move with walking frame. In 6 months after the operation, recovery of the muscle strength of the knee joint was observed with normal flexion and extension movements. Conclusion: Rarely, during dissection of the inferior epigastric artery, injuries to the femoral nerve can be resulted, probably due to excessive traction or pressure from the blade of the traction device. Therefore, femoral nerve injury can be prevented by avoiding excessive traction during surgery.

• 근관절건강학회지
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• 제13권2호
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• pp.119-129
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• 2006

Purpose: The purpose of this study was to analyze current treatments and characteristics of patients with hemophilia. Method: research design is a descriptive study exploring the current treatments, accompanied disorders, features related to the disease and subjects' social-demographic characteristics. The sample consisted of 218 hemophilia patients registered at Korea Hemophilia Foundation. Results: 80.3% of the subjects were diagnosed of this disease before the age of 10. 64.7% of them had a hemophilia familial history. 74.3% of them had disabilities. Main characters related to the disease were lack of the 8th factor and bleeding tendencies. Levels of severity had significant relationship with the number of hemorrhagic experiences. A common comorbidity found was hepatitis C. A treatment agent frequently use was GREENMONO INJ. and most patients injected it by themselves. 47.7% of the subjects used a dosage of 100 unit, and 45.4% of them injected to once a week. Conclusion: These data will be used as valuable knowledge for planning a patient care and managing their symptoms.

• 대한장애인치과학회지
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• 제12권2호
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• pp.72-76
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• 2016

저자는 뇌병변 장애와 보행장애로 반복적인 외상성 치아손상을 받은 환아의 치료를 시행하였다. 최근 실활된 미성숙 영구치의 계속된 치근 형성을 위해 재생적 근관치료 술식이 많이 시도되어 성공적인 결과를 보이고 있다. 하지만 장애로 인해 반복적인 외상의 위험을 가진 환아에서 치수조직의 재생 보다는 치근단형성술을 통한 치근단의 폐쇄와 근관 충전이 비용과 장기적인 예후의 측면에서 유리한 치료방법이 될 수 있음을 확인하였다.

• 대한약침학회지
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• 제23권4호
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• pp.247-251
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• 2020

Objectives: Ganglion cysts require a sustainable treatment that suppresses their frequent recurrence. This study aimed to explore the clinical effects of Scolopendra pharmacopuncture (SP) and electroacupuncture on ganglion cysts. Methods: We retrospectively reviewed the patient records and follow-up reports for 20 patients with wrist ganglion cysts who received SP and electroacupuncture from April 2016 to March 2017. The cyst diameter, recurrence, visual analog scale (VAS) scores for pain, the Korean version of the disabilities of arm, shoulder, and hand (K-DASH) score, and the Korean version of the patient-rated wrist evaluation (K-PRWE) score before and after treatment were noted. Results: After treatment, the cyst diameter decreased significantly from 13.61 ± 6.41 mm to 5.15 ± 6.18 mm (p < 0.001), and VAS score for pain decreased from 1.31 ± 1.77 to 0.41 ± 0.33 (p = 0.021). Further, the K-DASH score decreased significantly from 8.97 ± 12.66 to 2.21 ± 7.39 (p = 0.016), and score for the function subscale of K-PRWE decreased from 11.37 ± 4.48 to 9.1 ± 3.67 (p = 0.046). No recurrences were reported from the followed-up patients. Any complication related to SP or electroacupuncture was not observed, except mild rash, itching, and swelling at the injection site in four patients. Conclusion: Combination of SP and electroacupuncture may be effective in treating ganglion cysts; further prospective studies with large population are needed to clarify the effect of SP and electroacupuncture.

• 구강회복응용과학지
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• 제39권3호
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• pp.158-167
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• 2023

최근 치의학 분야에서 디지털 기술이 발달함에 따라 computer-aided design-computer-aided manufacturing (CAD/CAM)을 이용한 의치 제작 진료 단계의 변화를 가져왔다. CAD/CAM 기술을 이용한 의치 제작 방식은 제작기간과 내원 간격의 단축으로 임상적인 효율성과 편리함을 제공함과 동시에 기공을 단순화하여 오류 발생을 감소시켰다. 본 증례는 복잡한 병력과 신체적 장애를 가진 환자에게 기존의 임시의치를 디지털 방식으로 복제 및 출력하여 개인 트레이로 활용하였고, 부가중합형 실리콘 인상재로 채득한 최종 인상체에는 수직고경과 중심위, 상악 전치부의 각도 및 길이에 대한 정보가 포함되어 있으며 이를 통해 제작 기간과 내원 간격을 단축하여 환자의 만족도를 높일 수 있었다. 최종 의치는 밀링 방식 및 monolithic disc를 이용하여 제작하였고, 적절한 안정과 유지, 지지를 보여 기능적, 심미적으로 만족스러운 결과를 얻을 수 있었다.

• 대한심미치과학회지
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• 제28권2호
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• pp.116-126
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• 2019

Objectives: 현재 장애인의 구강건강은 구강건강전문인력인 치과위생사가 아닌 사회복지사가 책임지고 있는 실정이다. 장애인 복지시설에 상주하는 사회복지사에게 올바른 구강건강 관리방법을 제공함으로써 장애인 구강건강의 형평성 제고를 도모하고자 한다. Methods: 2019년 4월 13일부터 2019년 4월 20까지 서울시 송파구에 위치한 'o' 장애인 복지시설에 거주하는 1급 지적장애인을 대상으로 식후 치과위생사 4명과 사회복지사 4명이 잇솔질 시행 후 구강환경관리능력지수(PHP Index)를 측정하여 비교하였다. 사전에 사회복지사 4명에게 잇솔질(회전법)을 교육하였으며, 잇솔질 방법과 검사 측정 도구를 통일하였다. 대상자의 구강보건지식을 평가하기 위해 자기기입식 설문지를 사용하였고, 구강보건지식점수 및 구강환경관리능력지수(PHP index) 점수의 평균, 대상자의 일반적 특성에 대해 Microsoft Office Excel ver.2016 을 이용하여 빈도 및 백분율 산출하였다(N%). Results: 치과위생사와 사회복지사의 구강보건지식 조사에서 모든 문항에서 치과위생사가 높은 점수를 나타냈다. 치과위생사와 사회복지사가 지적장애인을 대상으로 잇솔질(회전법) 실시 후 구강환경관리능력지수(PHP Index)를 비교했을 때 연령별, 성별 모든 분류에서 치과위생사의 구강환경관리능력지수(PHP Index)가 낮게 나타났다. 2차에 걸쳐 치과위생사와 사회복지사가 지적장애인을 대상으로 잇솔질(회전법) 실시 후 구강환경관리능력지수(PHP Index)를 비교했을 때 1차, 2차 모두 치과위생사의 구강환경관리능력지수(PHP Index)가 낮게 나타났다. Conclusions: 이상의 결과를 종합해 볼 때, 장애인들의 구강건강관리를 위해 치과위생사가 사회복지사보다 구강건강관리능력이 더 효율적인 것으로 나타났다. 따라서 장애인들의 입소시설에 치과위생사가 구강건강관리전문 인력으로 배치되어 장애인 및 사회복지사의 교육을 담당할 수 있는 환경이 조성되어야하며, 치과위생사를 양성하는 대학의 교육과정에도 장애인의 특성을 이해하는 교과목이 개설되어 전문성이 제고되어야 한다.