• Journal of Genetic Medicine
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• 제17권1호
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• pp.39-42
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• 2020

The Senior-Loken syndrome was first described in 1961 as an oculo-renal disease consisting of familial juvenile nephronophthisis and Leber congenital amaurosis. It is a rare autosomal recessive disorder with a prevalence of 1:1,000,000 caused by mutations in nine genes (NPHP 1-8 and NPHP 10). Ocular manifestations (e.g., photophobia, nystagmus, and extreme hyperopia) occur within the first few years of life while renal manifestations (e.g., formation of multiple cysts impairing kidney function and end-stage renal disease) appear in late childhood to adolescence. Here, we report a case of a Filipino male presenting with rotatory nystagmus and progressive deterioration of vision since childhood. He had congenital amaurosis and juvenile nephronophthisis that progressed to end stage renal disease by age 19. All laboratory and imaging findings were consistent with chronic kidney disease. Molecular genetic testing of ciliopathy-related genes was performed revealing a homozygous mutation in exon 11 of the IQCB1/NPHP5 gene, c.1090C>T (p.Arg364^⁎). This sequence change created a premature translational stop signal resulting in a truncated protein product, nephrocystin-5 and its consequent loss of function. His symptoms eventually improved with initiation dialysis. The prognosis of Senior-Loken syndrome remains dismal and a high index of suspicion, early diagnosis and timely intervention of renal complications are warranted.

• Journal of Korean Neurosurgical Society
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• 제29권4호
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• pp.543-549
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• 2000

결절종은 말초 관절이나 인대에서 비교적 흔히 발견되나 척추 내 결절종은 드물게 보고되고 있다. 저자들은 5예의 요추후종인대에서 발생한 결절종을 경험하고 이들의 임상적, 방사선학적 특징, 수술소견 등에 대하여 고찰하였다. 저자들의 예에서 요추 내 결절종은 요통 및 하지통증을 유발하여 임상적으로 요추간반탈출증과 유사한 소견을 보였다. 요추 MRI상 진단이 가능하였고 5예 모두에서 특징적으로 요추디스크의 퇴행성 변화와 연관되어 있었으며 결절종이 요추디스크와 바로 인접된 부위에 위치하였다. 본 소견으로 저자들은 요추후종인대에서 발생한 결절종은 디스크의 퇴행성 변화와 밀접한 관계가 있다고 추론하였다. 수술은 5예 모두에서 완전절제가 가능하였고 전 예에서 수술 후 증상호전을 보였다.

• Journal of Korean Neurosurgical Society
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• 제60권1호
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• pp.114-117
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• 2017

A 42-year-old man was admitted to our hospital with complaints of low back pain and intermittent right thigh pain. Twelve weeks before admission, the patient received intradiscal electrothermal therapy (IDET) at a local hospital. The patient still reported low back pain after the procedure that was managed with narcotic analgesics. Follow-up magnetic resonance imaging (MRI) was performed, and his referring physician thought the likely diagnosis was spondylodiscitis at the L4-5 spinal segment with a small epidural abscess. At admission to our department, the patient reported aggravated low back pain. Blood test results, including the erythrocyte sedimentation rate and C-reactive protein levels, were slightly elevated. Biopsy samples of the L4, L5 vertebral bodies and disk were obtained. The material underwent aerobic, anaerobic, fungal, mycobacterial cultures and histologic examination. Results of all cultures were negative. Histologically, necrosis of the bone was evident from the number of empty osteocyte lacunae. In addition, there was no evidence of infection based on biopsy results. No antibiotic treatment was administered on discharge. Repeat computed tomography and MRI performed 12 months after IDET showed a bony defect in the L4 and L5 vertebral bodies, and a decrease in the size of the L4-5 intervertebral disc lesion. We report a case of lumbar vertebral osteonecrosis induced by IDET and discuss etiology and radiologic features.

• 대한관절경학회지
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• 제13권3호
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• pp.276-279
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• 2009

건초 섬유종은 수부나 상지에서 발생하는 양성 연부조직 종양으로 관절내에서 발생하는 경우는 아주 드물다. 대부분 천천히 자라는 섬유성 결절 조직으로 조직학적으로는 산재한 섬유모세포및 치밀한 기질과 미세 혈관세포들로 구성된다. 저자들은 54세 남자환자의 관절와 상완 관절 후상방 관절막에서 기시한 건초 섬유종을 경험하였다. 자기 공명 영상에서 저 강도 신호의 결절성 종물로 관찰되었으며 관절경하에서 절제하여 조직검사로 확진하였다. 관절내 건초 섬유종은 견관절 관절경 시술시 관절 내에서 관찰될 수 있는 종양의 하나로 감별해야 할 것으로 사료된다. 있는 술식으로 전방십자인대 수술시 좋은 치료 선택의 하나로 사료된다.

• 대한관절경학회지
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• 제14권3호
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• pp.188-191
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• 2010

상완이두장건의 결손은 매우 드문 이상이다. 본원에 내원한 19세 남환은 우측 견관절 아탈구 증상을 주소로 내원하였다. MRI 상 상완골의 얕은 결절사이고랑이 관찰되었으며 상완이두장건의 결손이 관찰되었다. 견관절 내시경술을 시행하였으며 관절와순 파열과 함께 상완이두장건의 결손이 관찰되었다. 5개월 뒤 좌측 견관절에도 우측 견관절과 같은 증상이 발생하였고 MRI 및 견관절 내시경 소견 상 상완이두장건의 결손 소견 및 관절와순 파열 소견이 관찰되었다. 양측 견관절 모두 내시경적 관절와순 봉합술을 시행하였으며 수술 후 위팔 외전 보조기를 이용하여 고정하였다. 상완이두장건의 결손이 견관절의 불안정성을 유발할 수 있을 것이라고 생각한다.

• Journal of Yeungnam Medical Science
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• 제31권2호
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• pp.131-134
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• 2014

Familial isolated primary hyperparathyroidism(FIPH) is associated with multiple endocrine neoplasia type 1 (MEN1) syndrome, primary hyperparathyroidism accompanied by jaw-tumor syndrome, and familial hypocalciuric hypercalcemia. FIPH may be an early stage of MEN1 or an allelic variant of MEN1. Thymic carcinoid tumor is a rare tumor in MEN1 syndrome. Here, the authors report the case of a 40-year-old man diagnosed with recurrent thymic carcinoid tumor and FIPH. Both the patient and his elder sister had been previously diagnosed to have FIPH with a novel frameshift mutation in the MEN1 gene. Initially, the patient underwent thymectomy because of an incidental finding of a mediastinal mass in his chest X-ray, and had remained asymptomatic over the following 4 years. Pancreas computed tomography conducted to evaluate MEN1 syndrome revealed anterior and middle mediastinal masses, and resultantly, massive mass excision was performed. Histological findings disclosed atypical carcinoids with infiltrative margins. In view of the thymic carcinoid tumor relapse that occurred in this patient, the authors recommend that regular pancreas and pituitary imaging studies be conducted for FIPH associated with a MEN1 gene mutation.

• 대한영상의학회지
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• 제79권6호
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• pp.332-336
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• 2018

신장 동맥 손상은 둔상의 드문 합병증이나, 신장의 혈류 차단을 일으켜 신부전증을 일으킬 수도 있어 조기 진단과 치료가 필요하다. 신장 동맥 손상의 치료 방법은 아직 논란이 남아 있기는 하지만, 최근 연구들에서 혈관 내 스텐트를 이용한 성공적인 치료 결과가 보고 되었다. 그러나 아직 소아 환자에 대해서는 표준 치료법이 정해지지 않았다. 우리는 16세 여자 환아에서 발생한 4등급 간 열상과 동반된 우측 신장 동맥 폐색 증례를 보고하고자 한다. 환아는 풍선 혈관형성술만을 이용한 치료를 시행 받았고, 후에 신장의 실질 혈류 관류가 뚜렷하게 개선되었으며 신기능이 정상화 되었다. 따라서 소아 환자에서 신장 동맥 손상이 발생했을 경우, 풍선 혈관형성술을 이용한 시술이 치료의 한가지 방법이 될 수 있다.

• Journal of Interdisciplinary Genomics
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• 제1권2호
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• pp.19-22
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• 2019

CATCH 22 syndrome is rare genetic disease that has various manifestations. Cervical vertebral anomaly, such as Klippel-Feil anomaly, is frequently observed in the patients with CATCH22 syndrome. We present the case of an 11-year-old female patient with CATCH22 syndrome and Klippel-Feil anomaly who had been treated torticollis using the customized soft neck collar. During the patient's first visit to our clinic, she presented with low ear set, skull deformity, intellectual disability, and tilting of the head to the left by approximately 25 degrees. Imaging studies revealed multisegmental fusion and C3 hemivertebrae of the cervical spine and left thoracic scoliosis at T4 with 50 degrees of Cobb's angle. We instructed passive stretching and applied the customized soft neck collar we invented. The ipsilateral aspect of the neck collar is designed to provide vertical support between the clavicle and mandibular angle and is adjustable in height. The Velcro was attached to the neck collar at the point of contact with the ipsilesional mandibular angle, which provides negative sensory feedback, inducing her to tilt neck to the contralesional side. We applied the neck collar for 2 hours a day. After 1 year of treatment, her neck inclination angle improved from 25 to 10 degrees. Providing negative sensory feedback using the customized soft neck collar can be one of the treatment options of postural management in patients with torticollis in cases of CATCH 22 syndrome combined with Klippel-Feil anomaly.

• Journal of Korean Neurosurgical Society
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• 제64권6호
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• pp.975-982
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• 2021

Objective : The occurrence of posterior fossa teratomas in adulthood is extremely rare. In this study, we aimed to report our experience with two cases of posterior fossa mature teratoma in adults who underwent surgical resection. We also performed a systematic review of published papers available to date. Methods : We retrospectively reviewed the electronic medical records of patients who had onset of posterior fossa teratomas in adulthood at our institute between 1995 and 2020. We evaluated the clinical, radiographic, and pathological features of mature teratomas at the posterior fossa in adulthood. Furthermore, we searched the PubMed, EMBASE, and Web of Science database and reviewed published articles. Results : We found 507 articles on database review; of them, 102 were duplicates and 389 were excluded based on the inclusion criteria. Finally, 16 cases of posterior fossa from the web search and related articles. Subsequently, we added two cases that underwent surgery at our institute. We analyzed a total of 18 cases of mature teratomas. Headache was the most common (55.6%) symptom. The teratomas showed heterogeneous signals on magnetic resonance imaging. Thirteen patients (72.2%) had lesion at midline, five patients (27.8%) had calcification. Surgical resection was performed in all patients. No studies reported recurrence after resection. Conclusion : The occurrence of posterior fossa teratomas in adulthood is difficult to diagnose at the initial stage. Radiographic diagnosis alone can lead to misdiagnosis. Pathological confirmation is essential. Surgical resection is a curative option for posterior fossa teratomas in adulthood.

• Nuclear Engineering and Technology
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• 제53권9호
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• pp.3026-3034
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• 2021

Multi-target X-ray tube is a new type X-ray source, and can be applied in many fields such as sensitive X-ray fluorescence analysis and medical imaging. In this work, we report an electric field modulation multi-target X-ray tube, which contains four targets (Cr, Ni, Au, Mo) coated on a Beryllium (Be) window. A four-valve electric field deflector was developed to deflect the electron beam to bombard the corresponding targets. Particle dynamics analysis software was employed to simulate the particle tracking of electron beam. The results show that the 30 keV electron beam could get a 6.7 mm displacement on the target plane by 10⁵ V/m electric field. The focus areas are about 2 mm × 5 mm and 4 mm × 2.5 mm after deflection in two directions. Thermal behavior calculated by ANSYS shows that the designed target assembly could withstand a 10 W continuous power. The optimum target thicknesses and emission spectra were obtained by Geant4 when the thickness of Be window was 300 mm and the electron beam incident angle was 0.141 rad. The results indicate that this multi-target X-ray tube could provide different X-ray sources effectively.