• 제목/요약/키워드: Patient Assessment Report

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Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea

  • Jang, Min Jeong;Lee, Cha Gon;Kim, Hyun Jung
    • Journal of Genetic Medicine
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    • 제15권2호
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    • pp.110-114
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    • 2018
  • Ataxia-telangiectasia (AT; OMIM 208900) is a rare autosomal recessive inherited progressive neurodegenerative disorder, with onset in early childhood. AT is caused by homozygous or compound heterozygous mutations in ATM (OMIM 607585) on chromosome 11q22. The average prevalence of the disease is estimated at 1 of 100,000 children worldwide. The prevalence of AT in the Republic of Korea is suggested to be extremely low, with only a few cases genetically confirmed thus far. Herein, we report a 5-year-old Korean boy with clinical features such as progressive gait and truncal ataxia, both ankle spasticity, dysarthria, and mild intellectual disability. The patient was identified as a compound heterozygote with two novel genetic variants: a paternally derived c.5288_5289insGA p.(Tyr1763*) nonsense variant and a maternally derived c.8363A>C p.(His2788Pro) missense variant, as revealed by next-generation sequencing and confirmed by Sanger sequencing. Based on claims data from the Health Insurance Review and Assessment Service Republic of Korea, we calculated the prevalence of AT in the Republic of Korea to be about 0.9 per million individuals, which is similar to the worldwide average. Therefore, we suggest that multi-gene panel sequencing including ATM should be considered early diagnosis.

Pineal and Suprasellar Germinoma Cooccurence with Vertebra Plana: A Case Report

  • Toosi, Farrokh Seilanian;Aminzadeh, Behzad;Rad, Mohammad Faraji;Nekooei, Sirous;Nahidi, Mahsa;Keykhosravi, Ehsan
    • Brain Tumor Research and Treatment
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    • 제6권2호
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    • pp.73-77
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    • 2018
  • Germinoma is the most common type of intracranial germ cell tumors (GCTs). Pineal gland and suprasellar region are the most frequent sites of central nervous system (CNS) involvement. Intracranial masses caused by Langerhans cell histiocytosis (LCH) mimics features of CNS GCTs. LCH frequently involve spine and is the most common cause of vertebra plana in children. A 15-year-old boy presented with progressing symptoms of polydipsia, polyuria, general headache, nausea and severe back pain. Brain MRI showed brain tumor with simultaneous involvement of suprasellar region and pineal gland. An excisional biopsy of suprasellar mass was done. The pathologic assessment confirmed the diagnosis of germinoma. Patient's treatment continued accordingly. A spine MRI, done due to persistent backache, showed a vertebra plana. We reevaluated the primary diagnosis suspecting LCH. Germinoma of CNS was confirmed and a biopsy of vertebral lesion resulted in hemangioma. Thus we report a case of CNS germinoma with co-occurrence of vertebra plana. We emphasized the importance of histopathologic diagnosis of pineal/suprasellar masses and primary investigation of other CNS regions including spine for possible metastasis or comorbidities.

턱관절균형요법을 병행하여 치료한 소양인의 입얼굴 이상운동증 치험 1례 (A Case Report of a Soyangin Oro-facial Dyskinesia Treated with Functional Cerebrospinal Therapy)

  • 박경훈;전수형;김종원
    • 사상체질의학회지
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    • 제32권4호
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    • pp.107-117
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    • 2020
  • 입얼굴 이상운동증을 주증으로 입원한 환자에 대하여 소양인(少陽人) 흉격열증(胸膈熱證)으로 변증하고 한약, 침, 약침, 턱관절균형요법을 병행한 치료로 유의미한 호전 반응을 나타낸 1례를 보고하는 바이다.

Management of Irq-Un-Nasa (Sciatica) by Fasd (Venesection): A Case Report

  • Khan, Fatima;Nayab, Mohd;Ansari, Abdul Nasir
    • 셀메드
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    • 제12권2호
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    • pp.6.1-6.5
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    • 2022
  • Objectives: Sciatica is a musculoskeletal pain sensed in the leg along with the distribution of the sciatic nerve, which is sometimes accompanied by low back pain and is most commonly caused by a disc herniation. In the Unani system of Medicine, Irq-un-Nasa (Sciatica) is defined as the pain which starts from the hip joint and descends towards the foot. It is a type of Waja-ul-Mafasil which is developed due to the accumulation of Khilt-e-Dam or Khilt-e-Balgham ghaleez in the hip joint. The conventional system of Medicine offers several medications and surgeries to manage sciatica with limited clinical evidence of effectiveness. These cases aim to provide insight into the effects of Fasd (Venesection) in Irq-un-Nasa. Case Presentation: Fasd was performed in the saphena minor vein of two clinically diagnosed patients with sciatica after the initial assessment. Two sittings of Fasd, once a week in each patient, were performed, followed by telephonic assessments for two months. The intensity of sciatic pain reduced with subsequent sittings of Fasd, and there was no recurrence of any symptoms and signs again during complete follow-up. Conclusion: Based on the results of the present case report, it appears that such cases of Irq-un-Nasa can be managed with Fasd, and the quality of life of such patients can also be improved.

절개침법을 적용한 자가면역질환 흉터 치료 1례 (A Case Report on Scars from Autoimmune Disorder Treated with Incisional Needle Therapy)

  • 조주연;임태경;김민희
    • 한방안이비인후피부과학회지
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    • 제37권1호
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    • pp.107-112
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    • 2024
  • Objectives : This case report aims to demonstrate the effectiveness of incisional needle therapy in treating facial scars resulting from autoimmune disorder. Methods : A single case of a 29-year-old female patient with facial scars due to systemic sclerosis was treated with incisional needle therapy. The treatment was applied over 14 sessions from February to September 2023. The efficacy of the treatment was evaluated using clinical photographs and the Physician's Global Assessment(PGA). Results : The treatment significantly improved scar appearance and reduced blood vessel visibility. The PGA scores, with an average of 2.66, indicating moderate improvement. Conclusions : Incisional needle therapy demonstrated potential as an effective treatment for scars caused by autoimmune disorders, due to minimal side effects and non-interference with ongoing treatments. It offers a promising alternative to conventional treatments, suggesting a need for further research for wider applications.

섬유근통 환자의 추나요법 및 한의약치료 증례보고 (A Clinical Study on One Case of a Patient with Fibromyalgia by Chuna Therapy and Traditional Korean Medicine Treatment)

  • 이은지;방성필;조현정;김기역;김성태;박재석;최영민;김민성;황춘호;강수우
    • 척추신경추나의학회지
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    • 제9권1호
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    • pp.67-75
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    • 2014
  • Objectives : The purpose of this study is to report a clinical progress of treatment of fibromyalgia through Traditional Korean medicine treatment. A patient was diagnosed with fibromyalgia by clinical correlation on 2009 in Jeonnam university hospital, he had multi sited pain and severe muscle spasm. Methods : Between 27th march 2014 and 15th April 2014, he was treated with acupuncture, cupping, electro-acupuncture and chuna therapy every day and observed by visual analogue scale and assessment about number of pain site and square of pain. Results : After treated by using above treatment, VAS and assessment about number of pain site and square of pain were improved. Conclusions : Chuna therapy and other Traditional Korean medicine treatment are estimated to be good for fibromyalgia. But more cases are required to prove the effectiveness of chuna therapy on fibromyalgia.

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밀러피셔 증후군 환자에 대한 한방 치험 1례 (A case of Miller Fisher Syndrome treated with Traditional Korean Medicine)

  • 이현규;서원주;김재학;조기호;문상관;정우상;권승원;진철
    • 대한중풍순환신경학회지
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    • 제20권1호
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    • pp.33-42
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    • 2019
  • ■ Objectives The purpose of this case report is to show the effect of Traditional Korean Medicine(TKM) on a patient with Miller Fisher Syndrome. ■ Methods A patient with Ataxia, Diplopia, Mydriasis diagnosed as Miller Fisher Syndrome was treated with herbal medication, acupuncture, electro-acupuncture, and press needles. Then we evaluated the improvement with the size of pupil, NRS(Numeral Rating Scale) of Diplopia, Assessment for Gait disturbance. ■ Results We could observe decrease in pupil size and NRS of Diplopia and improve in assessment for gait disturbance after the TKM treatment. ■ Conclusion This case showed the effect of TKM treatment on Miller Fisher syndrome.

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산삼약침 시술 후 발생한 것으로 의심되는 약인성 간손상 : 증례 보고 (Case of Suspected Drug-Induced Liver Injury after Intravenous Wild Ginseng Pharmacopuncture)

  • 조희근;정필선;김희영;배소연;조미진;신준혁;한세혁;나재일;설재욱;이상영
    • 동의생리병리학회지
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    • 제28권1호
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    • pp.102-106
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    • 2014
  • Wild ginseng pharmacopuncture is a partly used Traditional Korean Medicine's therapy with no previously well documented hepatotoxicity. We report the the first case of suspected drug-induced liver injury (DILI) after intravenous Wild ginseng Pharmacopuncture therapy. Our clinical observation based on patient's laboratory studies, medical history, detailed drug history and ruling out other possible causes. Our patient's suspected diagnosis was wild ginseng pharmacopuncture-induced liver injury with correlation between detailed drug history and laboratory studies. This diagnosis was supported by the Council for International Organizations of Medical Sciences-Roussel Uclaf Causality Assessment Method(RUCAM). This report represents the first documented cases of suspected DILI after intravenous wild ginseng pharmacopuncture therapy, highlighting the need for future research regarding potential hepatotoxicity of Wild ginseng Pharmacopuncture.

갑상선 유두암으로 수술 후 좌우 림프절 전이 환자의 장기간 복합 한의약 치료 증례보고 (A Case Report on Papillary Thyroid Cancer for the Recurrence of Regional Cervical Lymph Nodes improved by Korean medicine)

  • 이해원;이수빈;김혜원;노진구;정혜인;김준형;김경한
    • 대한예방한의학회지
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    • 제26권3호
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    • pp.29-40
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    • 2022
  • Objective : This study assessed the effect of a combination of Korean medicine on a thyroid papillary cancer patient who was diagnosed with local lymph node metastasis after thyroidectomy and lymph node dissection but did not want surgery. Methods : Gami-Palmultang administration and moxibustion(large Bmoxa cautery) were performed for six years. Treatment outcomes were evaluated with Brief Fatigue Inventory (BFI), Numerical Rating Scale (NRS), Insomnia Severity Index (ISI), Functional Assessment of Cancer Therapy-General (FACT-G), blood test/ CT imaging results, and patient's statements. Results : After the treatment, all symptoms have been alleviated, the quality of life has increased, and it has been maintained without further metastasis of tumors for six years. Conclusion : Korean medicine treatment along with active observation can be an alternative to patients who do not want surgical treatment after recurrence of local lymph nodes in thyroid papillary cancer, and can have positive results in improving the quality of life.

점액성 선암종으로 폐의 쐐기절제술을 시행한 환자에 대한 한방치료 1례 (A Case Report of a Mucinous Adenocarcinoma Patient Treated with Korean Medicine after Wedge Resection of the Lung)

  • 홍미나;박혜림;조재현;최진용;배고은;한창우;박성하;김소연;이인;홍진우;최준용
    • 대한한방내과학회지
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    • 제37권5호
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    • pp.776-785
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    • 2016
  • The purpose of this study is to report and demonstrate the effect of Korean medical treatment on a wedge resection of a lung patient with mucinous adenocarcinoma. The patient was an 84-year-old female who was diagnosed with mucinous adenocarcinoma and underwent wedge resection. The patient was treated with acupuncture and herbal medicine (Banhahubak-tang and Gamiondam-tang). The EORTC Quality of Life Questionnaire, Core 30 (EORTC QLQ-C30), EORTC Quality of Life Questionnaire, Lung Cancer 13 (EORTC QLQ-LC13), numeric rating scale (NRS), and the Global Assessment (G/A) were used to assess the changes in symptoms, including operation site pain and dyspnea. After treatment, the patient showed improvement in operation site pain and dyspnea, based on the NRS and G/A. However, dyspnea and pain were aggravated based on the EORTC QLQ-C30 and EORTC QLQ-LC13. Therefore, Korean medicine may have a substantial benefit for patients with mucinous adenocarcinoma after wedge resection of the lung.