• Korean Journal of Clinical Pharmacy
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• v.30 no.3
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• pp.177-184
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• 2020

Background & objective: The Korean government has expanded its benefit coverage to enhance patients' access to orphan drugs and cancer medicines. However, the number of new drugs whose indications were not applied to reimbursement in health insurance was increased. This study aimed to understand the perspectives of experts and various stakeholders on the introduction of a new funding program for cancer treatment and orphan drugs. Methods: We conducted email surveys comprising 19 questions, from September 9 to 26, 2016. We distributed questionnaires to members of the Pharmaceutical Benefit Appraisal Committee and Cancer Assessment Committee. We also conducted a qualitative study through group interviews with stakeholders, including pharmaceutical companies and some patient groups for diseases. Results: A total of 35 survey respondents recommended the introduction of a funding program for orphan drugs, whereas 66% recommended the launch of funding for anticancer drugs. In addition, most pharmaceutical companies and patient groups recommended the introduction of new funding programs targeting patients with cancer and rare diseases. However, some participants asserted that it would be more appropriate to modify the existing reimbursement scheme than launch new funding. Conclusion: This study concluded that introducing new funding needs a social consensus to relieve financial hardships at the patient level.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1978.06a
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• pp.7.3-7
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• 1978

Adenoid cystic carcinoma that is found most frequently in the salivary gland is an extremely rare malignant tumor in middle ear and is a slow growing one with a characteristic tendency of recurrence after surgical removal. Recently we experienced a case of this rare adenoid cystic carcinoma arising from middle ear of 30 year old male patient. The patient complained of hearing impairment for two years duration and pulsating tinnitus for two weeks duration in the right ear. Under the local anesthesia, throgh exploratory tympanotomy, a grayish white mass measuring $1.5\times$1.5$\times$1mm in the hypotympanic portion was removed out and a adenoid cystic carcinoma was verified histopathologically.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.1
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• pp.9-14
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• 2022

Glutaric aciduria type 1 (GA1; OMIM #231670) is a rare autosomal recessive inherited neurometabolic disorder caused by the deficiency of glutaryl-CoA dehydrogenase. Infantile-onset GA1 is the most common form characterized by striatal injury and progressive movement disorder, and it is often triggered by an acute encephalopathic crisis within the first three years of life. Once this crisis occurs, there is a high likelihood for ineffective or limited conventional interventions, neurological disorders, or even death. Therefore, early diagnosis and immediate preventive management, such as dietary therapy, is essential. In the past decades, newborn screening (NBS) by tandem mass spectrometry for GA1 has been largely introduced in many countries including Korea, and it has led to improvements in the neurological outcomes of patients with GA1. In this review, the clinical symptoms, natural histories, and outcomes before and after the introduction of NBS in patients are discussed.

• Korean Journal of Clinical Pharmacy
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• v.16 no.2
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• pp.107-112
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• 2006

This study was aimed to investigate the current status and expectations of orphan drugs in Korea. The Korea Orphan Drug Center was established to supply many medicines for the patients with rare diseases. Among the medicines supplied by the Center, the number designated as the orphan drugs by the KFDA is quite few. However, a few of medicines are not under circulation even if the items are designated as the orphan drugs. Neoplasm-related medicines, infectious and parasitic disease-related medicines, endocrine, nutritional and metabolic disease-related medicines are the ones circulated most. There are several unapproved drugs among the medicines supplied by the Center. It's because the director of the Center can import the goods without a process to getting an approval from the KFDA. The Korea Orphan Drug Center has contributed to the selection of the medicines for treating the rare disease. On the contrary, some problems remain in the supply process. The safety and effectiveness of the medicines supplied by the Center are not guaranteed. So far, rare diseases have no specific legal definition, and therefore are only referred to in terms of the population of patients, which prevent from establishing the range of medicines. The introduction of Special Access Program or Access to Unapproved Therapeutic Goods will be the solution of these problems. In addition, it is another solution to keep intimate relations with the Rare and Intractable Disease Center and the Medicine Safety Information Center which will be open soon.

• Journal of the Korean Society of Radiology
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• v.84 no.3
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• pp.757-762
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• 2023

First described in 1930 as a lipoid granulomatosis, Erdheim-Chester disease (ECD) is a rare histiocytosis encompassing a group of disorders caused by overproduction of histiocytes, a subtype of white blood cells. This disease most commonly involves the bones and can affect organs in the abdomen; however, biliary involvement is rarely reported. We report a case of ECD with biliary involvement, which rendered it difficult to radiologically distinguish ECD from immunoglobulin G4-related disease.

• Journal of Genetic Medicine
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• v.4 no.2
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• pp.186-189
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• 2007

More than 6,000 rare disorders including genetic diseases have been reported. Of them, 1,500 diseases (1,211 for clinical diagnosis and 289 for research only) are technically possible for genetic testing. In Korea, since 2005, only 63 genetic diseases is permitted for prenatal genetic testing by the "Bioethics and Biosafety Law". The article 25 in the law prescribes 63 genetic diseases without clear indication for its selection and inclusion criteria. In EU, USA, and other foreign countries, however, there is no provision in the statute on prenatal genetic testing; it is not restricted by a law. Recently, a woman (Mrs. L, 38y) who is a carrier for Menkes disease made an appeal to a government for an amendment of the "Bioethics and Biosafety Law" prohibiting the prenatal diagnosis of her pregnancy at risk for Menkes disease. Menkes disease (MNK) is an X-linked recessive disorder characterized by neurodegeneration, connective tissue defects and hair abnormalities, and no effective treatment is available yet. The prevalence rate of MNK is one in about 250,000 live births. Menkes syndrome patients fail to absorb copper from the gastrointestinal tract in quantities adequate for meeting nutritional needs. These needs seem particularly acute during the initial 12 month of life, when the velocity of brain growth and motor neurodevelopment. Most of pts. die around 3yrs. of age. Mrs. L had a boy with Menkes disease who died at 2y.o. in 2001. Subsequent pregnancy in 2003, she was able to have prenatal genetic testing for mutation of the Menkes (ATP7A) gene and delivered a healthy baby boy. Now, She is pregnant again and wants to have prenatal diagnosis. however, this time, she was not allowed to have any more because Menkes disease is not included in 63 genetic diseases permitted by the law for prenatal genetic testing, in spite of the fact that she is a Menkes disease carrier and her pregnancy is at risk to have an affected baby. This case shows the practical problem of the legal restriction for prenatal genetic testing in Korea. In this study, we report a arguable case and discuss the controversial issues in the legal restriction for prenatal genetic testing in Korea.

• Journal of Genetic Medicine
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• v.8 no.2
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• pp.89-99
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• 2011

Over the years Korean health care system has improved in delivery of quality care to the general population for many areas of the health problems. The system is now being recognized in the world as the most cost effective one. It is covered by the uniform national health insurance policy for which most people in Korea are mandatory policy holders. Genetic counseling service, however, which is well recognized as an integral part of clinical genetics service deals with diagnosis and management of genetic condition as well as genetic information presentation and family support, is yet to be delivered in comprehensive way for the patients and families in need. Two major obstacles in providing genetic counseling service in korean health care system are identified; One is the lack of recognition for the need for genetic counseling service as necessary service by the national health insurance. Genetic counseling consumes a significant time in delivery and the current very low-fee schedule for physician service makes it very difficult to provide meaningful service. Second is the critical shortage of qualified professionals in the field of medical genetics and genetic counseling who can provide the service of genetic counseling in clinical setting. However, recognition and understanding of the fact that the scope and role of genetic counseling is expanding in post genomic era of personalized medicine for delivery of quality health care, will lead to the efforts to overcome obstacles in providing genetic counseling service in korean health care system. Only concerted efforts from health care policy makers of government on clinical genetics service and genetic counseling for establishing adequate reimbursement coverage and professional communities for developing educational program and certification process for professional genetic counselors, are necessary for the delivery of much needed clinical genetic counseling service in Korea.

• Journal of the Korean Society of Radiology
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• v.83 no.2
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• pp.394-399
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• 2022

While extramedullary relapse of leukemia could occur, the parotid gland is a rare site of recurrence. Extramedullary relapse involving the parotid gland could be mistaken for other diseases. Moreover, the diagnosis of this disease is often delayed due to its rarity. Herein, we present a case of extramedullary relapse of acute lymphoblastic leukemia involving the parotid gland.

• Journal of the Korean Society of Radiology
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• v.83 no.5
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• pp.1141-1146
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• 2022

Extraskeletal osteochondroma, a variant of chondroma, typically arises in the para-articular location of hands and feet. It is a rare disease and is particularly uncommon when joint components are not involved or localized away from joints. Herein, we report a case of extraskeletal osteochondroma in the posterior neck of a 66-year-old female. The characteristic radiologic finding of our case is presented, along with the typical findings of the disease and review of related literature reports.

• Journal of Chest Surgery
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• v.29 no.9
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• pp.1045-1049
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• 1996

Post-intubation tracheoesophageal fistula is rare, and its management causes a serious problems to surgeons. We have experienced 4 cases in 3 patients. Simple ditcision and closure of the fistulas were done by trans-cervical approach after weaning of ventilator. The tracheal defect was closed by simple suture, and the esophageal defect was closed in two layers before a viable muscle flap was interposed between the two suture lines in order to prevent recurrence. There was one delayed tracheal stenosls and one recurrent fistula, and these complications were also managed success ully.