• Genomics & Informatics
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• v.20 no.3
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• pp.30.1-30.9
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• 2022

Hereditary spastic paraplegia is a not common inherited neurological disorder with heterogeneous clinical expressions. ALDH18A1 (located on 10q24.1) gene-related spastic paraplegias (SPG9A and SPG9B) are rare metabolic disorders caused by dominant and recessive mutations that have been found recently. Autosomal recessive hereditary spastic paraplegia is a common and clinical type of familial spastic paraplegia linked to the SPG11 locus (locates on 15q21.1). There are different symptoms of spastic paraplegia, such as muscle atrophy, moderate mental retardation, short stature, balance problem, and lower limb weakness. Our first proband involves a 45 years old man and our second proband involves a 20 years old woman both are affected by spastic paraplegia disease. Genomic DNA was extracted from the peripheral blood of the patients, their parents, and their siblings using a filter-based methodology and quantified and used for molecular analysis and sequencing. Sequencing libraries were generated using Agilent SureSelect Human All ExonV7 kit, and the qualified libraries are fed into NovaSeq 6000 Illumina sequencers. Sanger sequencing was performed by an ABI prism 3730 sequencer. Here, for the first time, we report two cases, the first one which contains likely pathogenic NM_002860: c.475C>T: p.R159X mutation of the ALDH18A1 and the second one has likely pathogenic NM_001160227.2: c.5454dupA: p.Glu1819Argfs Ter11 mutation of the SPG11 gene and also was identified by the whole-exome sequencing and confirmed by Sanger sequencing. Our aim with this study was to confirm that these two novel variants are direct causes of spastic paraplegia.

• Journal of Genetic Medicine
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• v.18 no.1
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• pp.48-54
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• 2021

Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies evaluated using chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). The patient was born at 30 weeks and 2 days of gestation with a body weight of 890 g. He had symmetric intrauterine growth restriction, microcephaly, facial dysmorphism (hypertelorism, blepharophimosis, mild low-set ears, high-arched palate, and micrognathia), and right thumb polydactyly. Echocardiography revealed an atrial septal defect and patent ductus arteriosus. Furthermore, CMA revealed a concurrent microdeletion in 3p26 and a microduplication in 5q35.2q35.3. FISH analysis showed that these genetic changes resulted from a translocation mutation between chromosomes 3 and 5. The patient's mother had mild intellectual disability, short stature, and facial dysmorphism, while his father had a normal phenotype. However, parental FISH analysis revealed that the asymptomatic father carried a balanced translocation of chromosomes 3p26 and 5q35. CMA and FISH tests are useful for diagnosing neonates with multiple congenital abnormalities. Further parental genetic investigation and proper genetic counseling are necessary in cases of chromosomal abnormalities inherited from parental balanced translocations.

• Korean Journal of Head & Neck Oncology
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• v.37 no.1
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• pp.53-56
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• 2021

Sebaceous carcinoma (SC) is a rare malignant tumor, with an estimated incidence of approximately 1 to 2 per 1,000,000 per year. Approximately 75% of SCs are reported to occur in eyelids. Most of these tumors are diagnosed at age 40 or over and exhibit a wide variety of patterns in addition to the general appearance previously reported. SC is difficult to diagnose clinically, but can be diagnosed by accompanying biopsy. In cases of SC, additional examinations, such as endoscopy and computed tomography, may be necessary because of its association with Muir-Torre Syndrome. We present the case of a 22-year-old Asian man who complained of a rapidly growing chin tumor. The tumor was treated by surgical resection and adjuvant radiation therapy.

• Journal of Korean Medicine Rehabilitation
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• v.31 no.3
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• pp.1-17
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• 2021

Objectives The present study examined the recent domestic and international trends of non-surgical treatment of lumbar spinal stenosis (LSS). Methods The studies on non-surgical treatment of LSS were investigated via searching Korean web databases and PubMed. As a result, 39 studies were analyzed according to the authors, the types of study, the relationship to surgical treatment and the method of treatment. Results The first authors' occupations were identified as 17 doctors, 12 Korean medicine doctors, six physiotherapists, three chiropractic doctors and one doctor of science. The most common type of study in Korea was the case report and most of the studies were retrospective. Overseas, there were many prospective or experimental studies including randomized controlled trials (RCT). In Korea, non-surgical treatment was performed independently of surgical treatment in most cases. Among non-surgical treatments, the most researched treatment was traditional Korean medicine (TKM), followed by injection therapy, exercise therapy, and physical therapy. Conclusions Through this review, we can determine the effectiveness of TKM and its research direction. TKM should be studied experimentally including RCT and it should be conducted not only on acupuncture, but also on other treatment methods such as acupotomy, chuna, and herbal medicine. It is also necessary to conduct studies on TKM before and after surgery to compare the effects of surgery and TKM together, as well the effects on non-surgical treatments.

• Journal of the Korean Burn Society
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• v.24 no.2
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• pp.43-45
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• 2021

Magnetic Resonance Image (MRI) has been used as a safe, conventional and harmless diagnostic tool. However, thermal injuries have frequently been reported during MRI scanning due to the heat generated by the reaction with the magnetic field. It is recommended that metal-containing monitoring devices such as pulse oximetry and ECG monitoring leads should be removed prior to the start of the MRI scan, but these monitoring devices are inevitably placed in children or patients in the intensive care unit who have low compliance with the scan. Since the interaction between the metal probe or wire loop of pulse oximetry and the magnetic field can result in high thermal conduction, full-thickness burn can occur over the entire body surface during the MRI examination. Several cases of thermal burns from pulse oximetry on the fingers have been reported. However, we present a case of a full-thickness burn arising left earlobe in a 2-month-old child caused by the high conduction heat from pulse oximetry metal probe.

• Journal of Veterinary Science
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• v.21 no.6
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• pp.87.1-87.11
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• 2020

Background: A new, extended long-acting tilmicosin (TLAe) preparation was tested against intramammary ceftiofur (CEF) using a non-inferiority trial model during dry-cow therapy (DCT) in a farm with high bovine population density and deficient hygiene application. Objectives: To evaluate the possibility that TLAe administered parenterally can achieve non-inferiority status compared to CEF administered intramammary for DCT. Methods: Cows were randomly assigned to TLAe (20 mg/kg subcutaneous; n = 53) or CEF (CEF-HCl, 125 mg/quarter; n = 38 cows) treatment groups. California mastitis testing, colony-forming unit assessment (CFU/mL), and number of cases positive for Staphylococcus aureus were quantified before DCT and 7 d after calving. A complete cure was defined as no bacteria isolated; partial cure when CFU/mL ranged from 150 to 700, and cure-failure when CFU/mL was above 700. Results: TLAe and CEF had overall cure rates of 57% and 53% (p > 0.05) and S. aureus cure rates of 77.7% and 25%, respectively (p < 0.05). The pathogens detected at DCT and 7 days after calving were S. aureus (62.71% and 35.55%), Staphylococcus spp. (22.03% and 35.55%), Streptococcus uberis (10.16% and 13.33%), and Escherichia coli (5.08% and 15.55%). Non-inferiority and binary logistic regression analyses revealed a lack of difference in overall efficacies of TLAe and CEF. Apart from S. aureus, S. uberis was the predominant pathogen found in both groups. Conclusions: This study is the first successful report of parenteral DCT showing comparable efficacy as CEF, the gold-standard. The extended long-term pharmacokinetic activity of TLAe explains these results.

• The Journal of Internal Korean Medicine
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• v.42 no.6
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• pp.1245-1254
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• 2021

Objectives: This study investigated the clinical characteristics and symptoms of patients with reflux esophagitis (RE) visiting a Korean medicine hospital. Methods: We retrospectively reviewed the medical records of patients with an RE diagnosis who visited a Korean medicine hospital from June 15, 2020, to April 15, 2021. We analyzed the clinical characteristics and the results of a symptoms questionnaire. Results: Our sample included 1,151 patients (711 females). The median age was 58 years; the most common age bracket was 60-69 years. A total of 837 patients (72.7%) presented with symptoms lasting more than one year, and 1,035 (89.9%) had been prescribed medications for more than three months before visiting a Korean medicine hospital. Belching (77.6%) and acid regurgitation (70.9%) were the most frequent symptoms, followed by epigastric pain (61.6%) and throat globus (58.5%). Throat globus was the most bothersome symptom, and 72.4% of the patients experienced the symptom on more than five days in the preceding two weeks. Patients with a longer symptom duration were older (p<0.01) and more likely to be overweight (p=0.03). Patients experiencing symptoms for more than five years were more likely to report throat globus (p=0.02), hoarseness (p<0.01), and coughing (p<0.01). Conclusions: Most RE patients visiting a Korean medicine hospital were females in their sixties with chronic and refractory RE. Atypical symptoms (belching, epigastric pain, and throat globus) were common. Throat globus was highly prevalent in severe cases, suggesting that it warrants attention when treating RE patients.

• Journal of the korean academy of Pediatric Dentistry
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• v.49 no.3
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• pp.340-347
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• 2022

Distal displacement of the tooth germ of the mandibular second premolar (MnP2) leads to its impaction and obturation of the eruption path of the mandibular first molar delaying its eruption. The present case report describes the treatment of 2 cases of eruption guidance for distally displaced developing MnP2 that caused delayed eruption of the mandibular first molar. Intentional extraction of primary predecessor results in the mesial shift of the displaced MnP2. However, unfavorable distal ectopic eruption of the mandibular first premolar after the premature loss of primary second molar has been previously reported. Hemisection and sequential extraction of the mandibular primary second molar were performed to mesially shift the distally displaced MnP2, while preventing unfavorable distal ectopic eruption of the mandibular first premolar.

• Journal of the Society of Disaster Information
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• v.18 no.3
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• pp.609-621
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• 2022

Purpose: Natural Disaster has well formed framework more than social disaster, because natural disaster is controlled by one department, such as MOIS, but social disaster is distributed. This study is on the design of the integrated service platform for the social diaster data. and then, apply to the local governments. Method: Firstly, we design DB templates for the incident cases considering the incident investigation reports. For the risk management, life-damage oriented social disaster risk assessment is defined. In case of the real-time incident data from NDMS, AI system provides the prediction information in the life damage and the cause of the incident. Result: We design the structured and unstructured incident data management system, and design the integrated social disaster and safety incident management system. Conclusion: The integrated social disaster and safety incident management system may be used in the local governments

• Journal of the Korean Orthopaedic Association
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• v.56 no.6
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• pp.525-529
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• 2021

A localized tenosynovial giant cell tumor rarely affects the bilateral knee joint compared to the diffuse form. Only a few cases can be found in the literature, and there is no case report of the bilateral localized form of giant cell tumor causing patellofemoral pain syndrome in Korea. This study experienced a case of bilateral localized giant cell tumor, causing patellofemoral pain syndrome. The tumor was excised arthroscopically and confirmed pathologically. This paper reports this case with a review of the relevant literature.