• Archives of Plastic Surgery
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• 제50권4호
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• pp.415-421
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• 2023

The revision of the Korea Organ Transplantation Act (KOTA) in 2018 included hand/arm among the organs that can be transplanted. The first hand transplantation since the revision of KOTA took place in January 2021. A 62-year-old male patient experienced hand amputation on July 13, 2018, by a catapult injury. The patient first visited our institute 3 months after the injury. After serial interviews and an overall evaluation, the patient was registered on the hand transplantation waiting list in January 2020. On January 9, 2021, the patient underwent hand transplantation at the right distal forearm level. The total operation time was 17 hours 15 minutes, and the cold ischemic time was 4 hours 9 minutes. Postoperative immunosuppression was administered based on the protocol used for kidney transplantation. Two acute rejection episodes occurred, on postoperative days 33 and 41. Both rejection episodes were reversible with rescue therapy of a higher tacrolimus trough level, steroid pulse therapy, and topical immunosuppressants. Controlled passive range of motion exercise was started on postoperative day 10. Dynamic splint was applied on postoperative day 18. At 1 year, graft maintenance and functional improvement were satisfactory, and the patient showed a Disabilities of Arm, Shoulder and Hand score of 25.8. We successfully performed the first hand transplantation surgery under the KOTA amendment. It came from the organic and effective cooperation of plastic, orthopaedic, and transplantation departments and we believe it will guarantee the future ongoing success.

• The Korean Journal of Pain
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• 제20권1호
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• pp.60-65
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• 2007

Complex Regional Pain Syndromes (CRPS) type I and type II are neuropathic pain conditions that are being increasingly recognized in children and adolescents. The special distinctive features of pediatric CRPS are the milder course, the better response to treatment and the higher recurrence rate than that of adults and the lower extremity is commonly affected. We report here on a case of pediatric CRPS that was derived from ankle trauma and long term splint application at the left ankle. The final diagnoses were CRPS type I in the right upper limb, CRPS type II in the left lower limb and unclassified neuropathy in the head, neck and precordium. The results of various treatments such as medication, physical therapy and nerve blocks, including lumbar sympathetic ganglion blocks, were not effective, so implantation of a spinal cord stimulator was performed. In order to control the pain in his left lower limb, one electrode tip was located at the 7th thoracic vertebral level and two electrode tips were located at the 7th and 2nd cervical vertebral levels for pain control in right upper limb, head, neck and right precordium. After the permanent insertion of the stimulator, the patient's pain was significantly resolved and his disabilities were restored without recurrence. The patient's pain worsened irregularly, which might have been caused by psychological stress. But the patient has been treated with medicine at our pain clinic and he is being followed up by a psychiatrist. (Korean J Pain 2007; 20: 60-65)

• Journal of Genetic Medicine
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• 제18권1호
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• pp.60-63
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• 2021

Gabriel-de Vries syndrome, caused by the mutation of YY1, is a newly defined genetic syndrome characterized by developmental delay, facial dysmorphism, and intrauterine growth retardation. A 7-month-old girl presented developmental delay and subtle facial dysmorphism including facial asymmetry, micrognathia, and low-set ears. Whole exome sequencing identified a de novo heterozygous missense variant in the YY1 (c.1220A>G; p.His407Arg) gene. Here, we examined the clinical and genetic characteristics of an infant with a novel likely pathogenic variant of YY1. This case expands the phenotypic spectrum of Gabriel-de Vries syndrome.

• 대한장애인치과학회지
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• 제15권1호
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• pp.14-22
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• 2019

The aim of this study was to determine the factors contributing to the barrier of dental treatment for special needs patients perceived by the main caregivers of the patients. A questionnaire was developed with three parts: patient-related factors, caregiver-related factors, and factors for treatment barriers. Patient- and caregiver-related factors were analyzed for correlations with the barrier factors. Fisher's exact test and Chi-square test were used at the level of 0.05. A total of 52 caregivers (mean age [SD]=50.2 [11.5] years) for the patients with intellectual and cognitive disabilities (mean age [SD]=38.9 [21.3]) responded to the questionnaires. Oral hygiene status, need for assistance in tooth brushing, and cooperation for tooth brushing were correlated with the level of treatment cooperation of the patients (p<0.05). The above three factors were also correlated with the treatment barrier despite patients presenting oral symptoms (p<0.05). Two thirds of the caregivers felt the treatment cost as severe or a considerable financial burden. For patients, insurance types and need for assistance in tooth brushing, and for caregivers, education levels and financial status were significant factors contributing to financial burden (p<0.05). There were background factors of the patients and their caregivers associated with access to dental treatment for special needs patients. Deficient cooperative skills and financial burdens were the main obstacles to treatment access. Tooth brushing skills and oral hygiene status can be proxy measures to cooperative ability for dental treatment.

• 대한한방소아과학회지
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• 제15권2호
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• pp.69-73
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• 2001

The neurofibromatosis (NF) are a set of genetic disorders which cause tumors to grow along various types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. NF causes tumors to grow anywhere on or in the body. It also leads to developmental abnormalities. For example, individuals with NF have a higher incidence of learning disabilities. Neurofibromatosis(NF) has been classified into two distinct types: NF-I and NF-II. neurofibromatosis 1(NF-I), also known as von Recklinghausen NF or Peripheral NF, occurring in 1:4,000 births, is characterized by multiple cafe-au-lait spots and neurofibromas on or under the skin. Enlargement and deformation of bones and curvature of the spine (scoliosis) may also occur. Occasionally, tumors may develop in the brain, on cranial nerves, or on the spinal cord. About 50% of people with NF also have learning disabilities. Neurofibromatosis 2(NF-II), also known as Bilateral Acoustic NF(BAN), is much rarer occurring in 1:50,000 births. NF-II is characterized by multiple tumors on the cranial and spinal nerves, and by other lesions of the brain and spinal cord. Tumors affecting both of the auditory nerves are the hallmark. Hearing loss beginning in the teens or early twenties is generally the first symptom. We reported a 10-year-old female patient with NF-I, she has pain and edema in left leg, no symptoms of NF.

• 한국전문물리치료학회지
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• 제20권3호
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• pp.62-73
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• 2013

Pediatric home-based physical therapy (PHBPT) provides professional rehabilitation programs at the patient's home, where the activities of daily life are actually performed. PHBPT also allows to avoid the difficulties of transporting children with disabilities to the clinic. Despite these advantages, PHBPT is not yet widely practiced in Korea. There is little objective information regarding the opinions of the main stakeholders on PHBPT. To investigate the awareness and demand of PHBPT among the main stakeholders, 41 pediatric physical therapists (PT) (of 60 contacted) were recruited from different regions of Korea on the basis of the regional population distribution. The recruited PTs completed their questionnaires and also participated in collecting questionnaires from 35 medical doctors (MD) with whom they worked and from randomly selected 201 parents of children with disabilities recruited. The overall response rate was 85.5%. The awareness of PHBPT differed between PTs (95.1%) and parents (67.2%) (p<.001). The survey showed that 82.9% of MDs had at least heard about PHBPT. Significantly more parents (83.5%) than MDs (57.1%), and 70.0% of PTs, wanted to start PHBPT service immediately (p<.001). Significantly more parents (90.0%) than PTs (73.2%) were willing to participate in PHBPT (p<.001). Opinions on the details of policies and procedures (i.e., necessity for prescription, treatment cost, and treatment frequency) differed among the respondent groups, but all favored a minimal qualification of 6~10 years of pediatric experience and a treatment session duration of 1 hour. These findings provide objective information to support health service administrators to understand the current demand and develop feasible policies and procedures of PHBPT in Korea.

• 대한장애인치과학회지
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• 제14권1호
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• pp.26-30
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• 2018

9세 레녹스-가스토 증후군을 앓고 있는 여아가 정기검진을 위해 연세대학교 치과대학병원 소아치과에 내원하였으며 구강 내 임상 검사 시 유견치 및 제1유구치의 동요도가 관찰되었다. 본과 내원 두 달 전 폐렴으로 인한 입원 및 치아로 추정되는 물질의 흡인 병력이 있었으며 치과에 내원했을 당시 구강 내에서 상악 좌측 제1유구치가 관찰되지 않았다. 해당 치아가 흡인되어 폐렴을 유발했을 가능성이 높은 것으로 판단하고 동요도가 있는 나머지 유치의 발치를 시행하였다. 인후 반사가 제한되어 흡인 위험성이 높은 장애 환자들에서는 치과 치료 상황 외에도 구강 내 이물질의 흡인이 일어날 수 있으므로 동요도가 있는 유치나 잘 맞지 않는 보철물 등을 예방적으로 제거하는 것이 흡인의 위험성을 줄일 수 있을 것으로 생각된다.

• Journal of Genetic Medicine
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• 제19권2호
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• pp.94-99
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• 2022

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized by tumors in various systems. Some children with NF1 also accompanies neurodevelopmental problems. Here, we describe a 5-year-old boy with a maternally inherited pathogenic variant in NF1 and hypoxanthine-guanine phosphoribosyltransferase (HPRT). He was referred for severe neurodevelopmental impairment and hyperuricemia. His mother was diagnosed with NF1 and the patient was also suspected of having NF1 because of cafe au lait macules. He had dystonia, rigidity, cognitive deficit, and speech/language impairment. Serum and urine uric acid concentrations were elevated. He had more severe neurodevelopmental delay than patients with only NF1, so his clinical symptoms could not be fully understood by the disease alone. To find the cause of his neurologic symptoms and hyperuricemia, the patient and his mother underwent a whole-exome sequencing test. As a result, the pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother. The pathogenic variant c.7682C>G (p.Ser2561Ter) in NF-1 was identified as heterozygotes in both of them. Although the clinical symptoms of both diseases were overlapping and complicated, genetic testing was helpful for accurate diagnosis and treatment. Therefore, we suggest to consider preemptive genetic evaluation if there are symptoms not sufficiently explained by known existing diseases. And it is considered valuable to review this rare case to understand the clinical course and possible synergic effects of these diseases.

• 대한치과마취과학회지
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• 제13권3호
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• pp.139-143
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• 2013

The patient who has congenital hypothyroidism and pseudohypoparathyroidism could have mental retardation even though adequate hormone treatment and cannot endure conventional dental treatment. In this case, general anesthesia is selected to administer effective dental treatment. But, there could be symptoms such as anemia, neuropathy, associated pituitary or adrenal hypofunction, cardiac failure even in euthyroid state. And, bradycardia, mental dullness, hypothermia, slow reflexes can appear in case of inadequate thyroid hormone replacement. Especially, macroglosssia, slow drug metabolism, exaggerated responses to anesthetic agents and decreased ventilatory responses could be problem during general anesthesia. The presentation of hypoparathyroidism also varies depending on the chronicity of the result of hypocalcemia. Muscle spasms/tetany, paresthesias, and seizures may occur in an acute onset. Chronic hypocalcaemia causes fatigue, muscle cramps, lethargy, personality changes, and cerebration defects.

• 구강회복응용과학지
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• 제33권3호
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• pp.216-222
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• 2017

지적장애는 정신 발육이 항구적으로 지체 되어 지적 능력의 발달이 불충분하고 불완전한 장애이며, 지적장애를 가지면 자신의 일을 처리하는 것과 사회생활에의 적응이 상당히 곤란하다. 그렇기 때문에 환자 스스로 구강상태를 위생적으로 관리하는 것이 쉽지 않아 다발적 우식이 쉽게 관찰되며 치주질환 이환율이 높다. 본 증례의 환자는 지적장애 1급을 판정받은 33세 여환으로 치아 및 치주 건강이 좋지 않아 식사에 어려움이 있다는 주소로 내원하였다. 초진 구내 검사 시 환자는 치주염과 다발성 우식으로 수직고경이 감소되고 구치부 교합이 붕괴되어 있었다. 이를 가철성 국소의치 이용하여 교합을 재구성함으로써 심미적, 기능적으로 만족할 만한 결과를 얻었기에 보고하는 바이다.