• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.14 no.1
• /
• pp.48-53
• /
• 2014

Smith-Lemli-Opitz syndrome (SLO) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. Here, we describe Korean siblings with SLO who were diagnosed recently, and performed a review of literature about Korean cases with SLO to date. Microcephaly and syndactyly of the second and third toes are the most common physical finding in SLOS patients. Other malformations including growth failure, cleft palate or bifid uvula, various heart malformation, genital ambiguity in males are also accompanied. Not all patients showed low levels of serum cholesterol, so DHCR7 mutation analysis can be helpful to confirmative diagnosis. Two mutations on p.R352 locus (p.R352W and p.R352Q) are commonly identified in Korean SLO patients. Although rare in Korea, SLO should be considered in the differential diagnosis of growth failure with intellectual disability, especially in patients with multiple congenital anomalies.

• Archives of Plastic Surgery
• /
• v.47 no.1
• /
• pp.83-87
• /
• 2020

Extramammary Paget disease (EMPD) is an uncommon malignancy that occurs in apocrine gland-rich areas of the body. EMPD of the axilla is rare, but a few cases have been reported. Some cases of EMPD have been reported with underlying apocrine adenocarcinoma; rarely, mammary-type ductal carcinoma can accompany EMPD. Here, we report a very rare case of EMPD with apocrine adenocarcinoma and invasive mammary-type ductal carcinoma. A 55-year-old woman was referred with a brownish pigmented plaque accompanying an area of ulceration in the left axilla. A preoperative biopsy indicated Paget disease, and an additional evaluation was performed to determine whether it was of primary or secondary origin. A wide excision was made, and the axilla was reconstructed using a thoracodorsal artery perforator flap. The biopsy showed apocrine adenocarcinoma and invasive mammary-type ductal carcinoma with pagetoid spreading. The patient had no evidence of recurrence or other postoperative complications.

• Archives of Plastic Surgery
• /
• v.50 no.5
• /
• pp.463-467
• /
• 2023

Madelung's disease (MD) is a rare disease characterized by diffuse, nonencapsulated, multiple fat masses in different areas of the body. In this case report, we present a case of MD in Asia and its management. A 66-year-old man with a history of hypertension presented with massive growth of soft tissue around the neck, breasts, upper back, and lower abdomen. Preoperative magnetic resonance imaging revealed remarkably hypertrophic fat tissue around the neck and anterior chest was wall, which consistent with the diagnosis of MD. Multiple linear incisions were made on the neck and 763, 186, 635 g of posterior, right, and left fat tissues were excised, respectively. A single wide, transverse incision was done to excise 1,072 g of fat from the upper back. Masses of both breasts were excised, preserving the inferior pedicle, weighing 1,086 (right) and 1,164 g (left). The recovery was optimal and the patient was discharged without complications. In this case, we excised the adipose masses as much as possible and improved contour and symmetry. However, the fat infiltrations in the patient were diffusely distributed, making total fat excision difficult. This rare case report may help in managing patients with MD.

• Childhood Kidney Diseases
• /
• v.28 no.1
• /
• pp.44-50
• /
• 2024

Systemic lupus erythematosus (SLE) is a chronic autoimmune inflammatory disease that affects multiple organs. More than half of the patients with SLE have kidney involvement, and up to 10% of patients with lupus nephritis develop end-stage renal disease (ESRD). Central nervous system (CNS) involvement in SLE occurs in 21% to 95% of patients. Severe neurological manifestations such as seizures, cerebrovascular disease, meningitis, and cerebrovascular accidents can develop in childhood-onset SLE, but cerebral infections, such as brain abscess and hemorrhage, are seldom reported in lupus nephritis, even in adults. Here, we report a rare case of childhood-onset SLE with ESRD, cerebral abscess, and hemorrhage. A 9-year-old girl diagnosed with lupus nephritis was administered high-dose steroids and immunosuppressant therapy to treat acute kidney injury (AKI) and massive proteinuria. The AKI deteriorated, and after 3 months, she developed ESRD. She received hemodialysis three times a week along with daily peritoneal dialysis to control edema. She developed seizures, and imaging showed a brain abscess. This was complicated by spontaneous cerebral hemorrhage, and she became unstable. She died shortly after the hemorrhage was discovered. In conclusion, CNS complications should always be considered in clinical practice because they increase mortality, especially in those with risk factors for infection.

• Journal of Microbiology and Biotechnology
• /
• v.28 no.5
• /
• pp.809-815
• /
• 2018

Influenza, which is a highly contagious disease caused by the influenza A virus, continues to be a major health concern worldwide. Although the accurate and early diagnosis of influenza virus infection is important for controlling the spread of this disease and rapidly initiating antiviral therapy, the current influenza diagnostic kits are limited by their low sensitivity. In this study, we developed several new influenza nucleoprotein (NP)-specific monoclonal antibodies (mAbs) and compared their sensitivity and specificity of those with commercially available anti-NP mAbs. Three mAbs, designated M24.11, M34.3, and M34.33, exhibited higher reactivities to recombinant NPs and A/Puerto Rico/8/1934 (H1N1) viral lysates compared with the commercial mAbs, as assessed using enzyme-linked immunosorbent assays. M34.3 and M34.33 showed higher reactivities with A/California/04/09 (pandemic H1N1) and A/Philippines/2/82 (H3N2) viral lysates than the commercial mAbs. In contrast, M24.11 had marked reactivity with H3N2 but not with pandemic H1N1. Immunofluorescent confocal microscopy showed that the three mAbs effectively detected the presence of influenza virus in lung tissues of mice infected with A/Puerto Rico/8/1934. These results indicate that the newly developed M34.3 and M34.33 mAbs could be useful for the development of influenza diagnostics.

• Journal of the Korean Society of Radiology
• /
• v.84 no.3
• /
• pp.745-749
• /
• 2023

Gerstmann-Sträussler-Scheinker (GSS) disease is a rare hereditary prion disease which is clinically characterized by a progressive cerebellar ataxia followed by cognitive impairment. We report a rare case of GSS disease in a 39-year-old male patient who complained of a progressive gait disturbance followed by dysarthria with cognitive impairment, after five months from the onset of initial symptom. His brain MRI scan revealed multifocal symmetric diffusion restricted lesions with T2/FLAIR hyperintensities in bilateral cerebral cortices, basal ganglia, and thalami. His family members also manifested similar symptoms in their 40-50s, suggesting the possibility of a genetic disease. Finally, he was genetically diagnosed with GSS disease by real-time quaking-induced conversion and prion protein (PRNP) gene sequencing test.

• Korean Journal of Clinical Pharmacy
• /
• v.26 no.2
• /
• pp.121-127
• /
• 2016

Objective: Until now, there is minimal number of research for overall domestic status of orphan drug use in Korea. The purpose of this study is to identify the list of orphan drugs available in Korea and to understand the status of orphan drug usage in tertiary Hospitals and rare incurable disease Hospital. Methods: We made domestic orphan drug lists based on available orphan drugs in Korea. Based on this lists, we conducted e-mail survey from August, 2014 to September, 2014 to identify domestic status of orphan drug usage including the availability and management of orphan drugs. Results: There are three hundred and eighteen orphan drugs (184 ingredients) registered in Ministry of Food and Drug Safety. Among the three hundred and eighteen orphan drugs, Two hundred and twenty-eight drugs (102 ingredients) were selected. Information on each item was collected and documented with generic and brand names, manufacturers, wholesalers, indications, FDA approval status and insurance coverage. Forty-three tertiary hospitals and thirty-two rare incurable hospitals responded to the survey questionnaire (57.3%). According to the survey result, the antineoplastics and immunomodulating agents group has the highest percentage (40%) usage in the hospital. Of fortythree tertiary hospitals, thirteen hospitals manage orphan drugs separately (30.2%). Based on the reply, most of the healthcare professionals commented the drug information related to efficacy and safety including medication counseling of orphan drugs is insufficient. Conclusion: Through this study we anticipate providing an understanding of orphan drug usage status in Korea. We found the limited resources to the information on orphan drugs and this information requires updating on a regular basis. This can be the basis for further studies about preparing drug information, educational resources for rare disease patients.

• Journal of Genetic Medicine
• /
• v.19 no.2
• /
• pp.76-84
• /
• 2022

Purpose: Whole-exome sequencing (WES) has been a useful tool for novel gene discovery of various disease categories, further increasing the diagnostic yield. This study aimed to investigate the clinical utility of WES prospectively in undiagnosed genetic diseases. Materials and Methods: WES tests were performed on 110 patients (age range, 0-28 years) with suspected rare genetic diseases. WES tests were performed at a single reference laboratory and the variants reported were reviewed by clinical geneticists, pediatricians, neurologists, and laboratory physicians. Results: The patients' symptoms varied with abnormalities in the head or neck, including facial dysmorphism, being the most common, identified in 85.4% of patients, followed by abnormalities in the nervous system (83.6%). The average number of systems manifesting phenotypic abnormalities per patient was 3.9±1.7. The age at presentation was 2.1±2.7 years old (range, 0-15 years), and the age at WES testing was 6.7±5.3 years (range, 0-28 years). In total, WES test reported 100 pathogenic/likely pathogenic variants or variants of uncertain significance for 79 out of 110 probands (71.8%). Of the 79 patients with positive or inconclusive calls, 55 (50.0%) patients were determined to have good genotype-phenotype correlations after careful review. Further clinical reassessment and family member testing determined 45 (40.9%) patients to have been identified with a molecular diagnosis. Conclusion: This study showed a 40.9% diagnostic yield for WES test for a heterogeneous patient cohort with suspected rare genetic diseases. WES could be the feasible genetic test modality to overcome the diversity and complexity of rare disease diagnostics.

• Journal of Chest Surgery
• /
• v.21 no.5
• /
• pp.918-923
• /
• 1988

Hydatid disease still remains an important public health problem in many temperate and subtropical areas of the world. Hydatid disease is very rare in Korea. Recently, increase of abroad employment and tour into the endemic area brings into increase of the disease. We experienced a surgical case of unilocular hydatid cyst of lung in a 26 year old man. He had worked for a year[1986] in Libya. Hydatid cyst in left lower lobe was treated by lobectomy.

• Tuberculosis and Respiratory Diseases
• /
• v.56 no.2
• /
• pp.127-143
• /
• 2004

Computed tomography (CT) plays an important supplementary role in the evaluation of patients with heart disease. CT can be used to evaluate the aorta, pulmonary artery, pulmonary vein, cardiac chambers, coronary artery, valves and systemic veins (superior vena cava, inferior vena cava and hepatic veins). The "Learning Objectives" describe the normal anatomy and typical pathological conditions seen on axial scans and reformatted images from CT in patients with heart disease, focusing focus on frequent, fatal, and rare but characteristic diseases encountered in routine practice.