• Clinical and Experimental Pediatrics
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• v.51 no.8
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• pp.792-796
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• 2008

Bone pain in a child could be associated with cancer as an initial manifestation of the disease. The childhood malignancies that frequently present bone pain are leukemia, neuroblastoma, and primary bone tumors such as osteosarcoma and Ewing sarcoma. Persistent bone or joint pain associated with swelling, mass, or limitation of motion implies underlying serious causes. Systemic manifestations such as lymphadenopathy, hepatosplenomegaly, fever, fatigue, night sweat, and laboratory abnormalities are also suggestive of malignancy. The index of suspicion tends to be low since less than 1% of children who complain of bone pain are diagnosed as cancer. Nonetheless, pediatricians should be alert to the possibilities of cancer since early detection and prompt treatment might reduce mortality.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.2
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• pp.853-857
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• 2013

Objectives: Breast cancer is a leading cause of morbidity and mortality in women worldwide. Breast screening in normal and/or asymptomatic women is essential to reduce the burden of breast malignancies. Our study aimed to identify possible risk- and/or co-factors associated with breast screening in North Indian women. Methods: A public health research survey was conducted among 100 women of North Indian ethnicity during clinic visits in a 6-month timeline (April-October 2012). Demographic and clinical data, including mammography screening, were recorded in the questionnaire-based proforma after conducting a 10 minute interview. Written informed consent was taken from all the participants. Results: The mean age of the participants was $32.2{\pm}9.9$ years. Out of 100 women, 6% had family history of breast disease. Breast-related complaints/malignancy, including galactorrhoea, mastitis, axillary lump, fibrocystic disease, fibroadenosis and adenocarcinoma were observed in 41% participants; age stratification revealed that 82.9% of this group (n=41) were <30 years, while 9.7% and 7.3% were >30 years and 30 years of age, respectively. 32% participants underwent mammography screening and 8% had breast ultrasound imaging. Age stratification in the mammography screening group demonstrated that 24 women were <40 years, while 7 women were >40 years. Conclusions: Our pilot study identified possible co-factors affecting breast screening in North Indian women. These findings may be beneficial in early detection of breast abnormalities, including malignancies in women susceptible to breast cancer, and thus aid in future design of cost-effective screening strategies to reduce the increasing burden of breast carcinoma in women worldwide.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.26 no.1
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• pp.45-52
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• 2000

Nowadays, there are a lot of evidence that mutation of the p53 tumor suppressor gene is one of the most common genetic abnormalities in neoplastic progression. In this study, we analyzed 20 specimens of oral tumors(squamous cell carcinoma 14 cases, ameloblastoma 3 cases, adenoid cystic carcinoma 2 cases, malignant schwannoma 1 case)using polymerase chain reaction and direct sequencing which used an automated DNA sequencer and software for detection of mutations. Polymerase chain reactions were performed with 4 sets of primers encompassing exon 5, 6, 7, 8, and direct sequencing method was employed. The results were as followings. 1. We detected 10 point mutations out of 20 specimens (50%). 2. The genetic alterations included 7 mis-sense mutations resulting in single amino acid subtitutions, 2 silent mutations, 1 non-sense mutations encoding a stop codon. 3. Mutations were mostly in exon 7(7 out of 10 mutations, 70%) and involved codons 225, 234, 235, 236, 238, 247. 4. Therse were 4 cases of $T{\rightarrow}A$ transversion, 2 cases of $C{\rightarrow}A$ transversion, $A{\rightarrow}G$ transition, 1 case of $C{\rightarrow}G$, $T{\rightarrow}G$ transversion respectively. 5. We could find out point mutations more conveniently using PCR - Automated Direct Sequencing method.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.31 no.3
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• pp.105-120
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• 2020

Although autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social impairments, patients with ASD frequently manifest atypical sensory behaviors. Recently, atypical sensory perception in ASD has received much attention, yet little is known about its cause or neurobiology. Herein, we review the findings from neuroimaging studies related to visual perception in ASD. Specifically, we examined the neural underpinnings of visual detection, motion perception, and face processing in ASD. Results from neuroimaging studies indicate that atypical visual perception in ASD may be influenced by attention or higher order cognitive mechanisms, and atypical face perception may be affected by disrupted social brain network. However, there is considerable evidence for atypical early visual processing in ASD. It is likely that visual perceptual abnormalities are independent of deficits of social functions or cognition. Importantly, atypical visual perception in ASD may enhance difficulties in dealing with complex and subtle social stimuli, or improve outstanding abilities in certain fields in individuals with Savant syndrome. Thus, future research is required to elucidate the characteristics and neurobiology of autistic visual perception to effectively apply these findings in the interventions of ASD.

• Clinical and Experimental Reproductive Medicine
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• v.13 no.2
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• pp.161-174
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• 1986

A chromosomal study was performed in a total of 162 urological patients during past 2$2{\frac{1}{2}}$ years (Feb. 1984 - Aug. 1986). Of these 78(48%) patients had abnormal chromosome complements. Among all patients with chromosome abnormalities, 88% (69/78) had aberrations of chromosome number, 8% (6/78) had aberrations of chromosome structure and 4% (3/78) had aberrations of both. 90% (65/72) of numerical abnormality was Klinefelter's syndrome and the structural abnormality rate (5.6%, 9/162) was less than that (6.99%) of general population. The chromosomal study was mandatory for the detection of intersex in small testes or hypospadias with cryptorchism or clitoromegaly or bilateral cryptorchism. But unilateral cryptochism or hypospadias with normal scrotal testes was not thought to be indication of the chromosomal study if the external genitalia are otherwise quite normal.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.31 no.5
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• pp.440-443
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• 2009

Cleidocranial dysplasia(CCD) is a rare syndrome usually caused by an autosomal dominant gene or no apparent genetic cause. The skull is large and short with marked bossing of the frontal bone. Closure on the fontanelles and sutures is delayed. The clavicle may be unilaterally or bilaterally aplastic. Oral manifestations include multiple impacted permanent teeth, prolonged retention of primary teeth and multiple supernumerary teeth. There are many difficulties in the early diagnosis of CCD because a majority of the craniofacial abnormalities becomes obvious only during adolescence. Late diagnosis produce occlusional & psychological problem. Therefore early detection and treatment of CCD can reduce the period and the extent of orthodontic and surgical interventions. We experienced CCD patient with multiple supernumerary teeth and will report it with the literature review.

• Journal of Korea Multimedia Society
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• v.25 no.11
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• pp.1547-1556
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• 2022

As mechanical facilities are interacting with each other, the failure of some equipment can affect the entire system, so it is necessary to quickly detect and diagnose the abnormality of mechanical equipment. This study proposes a deep learning model that can effectively diagnose abnormalities in rotating machinery and equipment. CNN is widely used for feature extraction and LSTMs are known to be effective in learning sequential information. In LSTM, the number of parameters and learning time increase as the length of input data increases. In this study, we propose a method of segmenting an input segment signal into shorter-length sub-segment signals, sequentially inputting them to CNN through a time-distributed method for extracting features, and inputting them into LSTM. A failure diagnosis test was performed using the vibration data collected from the motor for ventilation equipment installed at the urban railway station. The experiment showed an accuracy of 99.784% in fault diagnosis. It shows that the proposed method is effective in the fault diagnosis of rotating machinery and equipment.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.117-120
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• 2021

We experienced a case of Xq deletion -- 46,X,del(X)(q22.3) -- detected by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis. Genetic counseling was a challenge because there are few reports of prenatal diagnosis of Xq deletion. In each female cell, one X chromosome is inactivated at random early in development, and there may be a preferential inactivation of the abnormal X chromosome. But some proportions of genes escape inactivation. The most common manifestation in women with Xq deletion is primary or secondary ovarian failure. Critical regions for ovarian function may be located at the long arm of the X chromosome. But, the onset and the severity of ovarian failure may vary with diverse, intricate factors. We anticipate that noninvasive prenatal screening can identify the broader range of chromosomal or genetic abnormalities with the advances in technology and analytic methods. We report our case with a brief review of the literature.

• The Journal of Korean Medicine
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• v.41 no.4
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• pp.106-111
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• 2020

Objectives: Hepatitis A is a typical acute hepatitis caused by hepatovirus, and then most patients recover easily without progression to chronic condition. However, certain cases have the risk of severe symptoms or even death. This case report presented a hepatitis A accompanied with pancreatitis, which had been completely recovered in a Korean medicine hospital. Case presentation: A 38-year woman had felt the malaise, mild chilling, muscle pain and abdominal discomfort for 10 days, which led her visit doctors and took anti-pyretic analgesics and digestants. The symptoms, especially epigastric pain and fatigue, became worse, and then she hospitalized in a Korean medicine hospital. Based on the drastic elevations of hepatic enzymes (aspartate transaminase 1,604 IU/L and alanine transaminase 2,825IU/L) with an anti-HAV IgM positive, she was diagnosed with hepatitis A. After bed rest and herbal drug treatment (CGX and Innae-Tang) for 5 days, the laboratory abnormalities and subjective symptoms had been improved gradually, except the upper gastric discomfort and pain. Those symptoms had anticipated the comorbidity with HAV-induced pancreatitis, supported by the high level of serum lipase release. Another 5-day hospitalized treatment improved all subjective symptoms and then the laboratory results were completely normalized including detection of anti-HAV IgG within 15 days after discharge. Conclusion: This study presented a typical hepatitis A accompanied with pancreatitis, which should be considered in diagnosis and management of hepatitis A.

• Childhood Kidney Diseases
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• v.26 no.1
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• pp.31-39
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• 2022

Alport syndrome (AS) is a progressive hereditary nephritis that is often accompanied by sensorineural hearing loss and ocular abnormalities. It is inherited in three modes of X-linked AS (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS). XLAS is caused by pathogenic variants in COL4A5, while ARAS and ADAS are caused by those in COL4A3 or COL4A4. There is currently no curative treatment for AS; however, angiotensin-converting enzyme inhibitors (ACEi) can improve the outcome of AS. In the past decade, multiple studies have shown that early intervention with ACEi upon isolated microscopic hematuria or microalbuminuria could delay disease progression, and early diagnosis is crucial for early treatment. Therefore, a new classification of AS based on molecular diagnoses has been proposed, including the paradigm shift of re-classifying female "carriers" to "patients" and "thin basement membrane nephropathy" to "ADAS." In addition, with the detection of COL4A mutations in some patients with biopsy-confirmed IgA nephropathy, focal segmental glomerulosclerosis, and chronic kidney disease of unknown origin, it is suggested that the phenotype of AS should be expanded. In this review, we highlight the landmark studies and guidelines published over the past decade and introduce strategies for early diagnosis and treatment to improve the outcomes of AS.