• Korean Journal of Radiology
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• v.2 no.3
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• pp.138-144
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• 2001

Objective: Bronchogenic carcinoma can mimic or be masked by pulmonary tuberculosis (TB), and the aim of this study was to describe the radiologic findings and clinical significance of bronchogenic carcinoma and pulmonary TB which coexist in the same lobe. Materials and Methods: The findings of 51 patients (48 males and three females, aged 48-79 years) in whom pulmonary TB and bronchogenic carcinoma coexisted in the same lobe were analyzed. The morphologic characteristics of a tumor, such as its diameter and margin, the presence of calcification or cavitation, and mediastinal lymphadenopathy, as seen at CT, were retrospectively assessed, and the clinical stage of the lung cancer was also determined. Using the serial chest radiographs available for 21 patients, the possible causes of delay in the diagnosis of lung cancer were analyzed. Results: Lung cancers with coexisting pulmonary TB were located predominantly in the upper lobes (82.4%). The mean diameter of the mass was 5.3 cm, and most tumors (n=42, 82.4%) had a lobulated border. Calcification within the tumor was seen in 20 patients (39.2%), and cavitation in five (9.8%). Forty-two (82.4%) had mediastinal lymphadenopathy, and more than half the tumors (60.8%) were at an advanced stage [IIIB (n=11) or IV (n=20)]. The average delay in diagnosing lung cancer was 11.7 (range, 1-24) months, and the causes of this were failure to observe new nodules masked by coexisting stable TB lesions (n=8), misinterpretation of new lesions as aggravation of TB (n=5), misinterpretation of lung cancer as tuberculoma at initial radiography (n=4), masking of the nodule by an active TB lesion (n=3), and subtleness of the lesion (n=1). Conclusion: Most cancers concurrent with TB are large, lobulated masses with mediastinal lymphadenopathy, indicating that the morphologic characteristics of lung cancer with coexisting pulmonary TB are similar to those of lung cancer without TB. The diagnosis of lung cancer is delayed mainly because of masking by a tuberculous lesion, and this suggests that in patients in whom a predominant or growing nodule is present and who show little improvement of symptoms despite antituberculous or other medical therapy, coexisting cancer should be suspected.

• The Journal of Pediatrics of Korean Medicine
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• v.24 no.2
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• pp.1-12
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• 2010

Objectives Taking detailed patient history helps earlier diagnosis and treatment of developmental disability. In this study we analyzed the clinical questionnaire to find out the clinical characteristics of those with five-retardation, five-limpness, or five-stiffness. Methods The data was collected from 484 children under the age of six who have visited H oriental medicine clinic for developmental delay. The clinical questionnaire was filled out by their parents and the data was analyzed statistically. Results 436 children showed symptoms of five-retardation, 90 children suffered from five-stiffness, 54 children showed five-limpness and 7 children suffered from five-stiffness and five-limpness complex. Generally, boys had higher chance to show disease symptoms than the girls (2.32:1) and 40 children (8.26%) reported family history of developmental disability. Cerebral palsy ranks the most common familial disease, followed by developmental delay, mental retardation, autistic disorder and language disorder. Among the children we have studied, 285 children (63.19%) showed delayed unassisted walk while 192 children (42.57%) had language disorder. Also, 138 children (28.51%) had both walk and language disorders. The children in this study also showed delayed toilet training and half of them had little stranger anxiety when they were infants. It was also found that 120 children (24.79%) experienced epilepsy. This study reaffirmed that low birth weight, premature birth, and suffocation are major risks causing neurological damage. Conclusions They had history which including family history, problems at birth, epilepsy, face recognition, muscle tone disorder, delayed walking without assistance, language ability, and toilet training.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.1
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• pp.145-152
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• 2015

Barriers to health seeking constitute a challenging issue in the treatment of breast cancer. The current meta-synthesis aimed to explore common barriers to health seeking among Malaysian breast cancer patients. From the systematic search, nine studies were found meeting the inclusion criteria. Data extraction revealed that health behavior towards breast cancer among Malaysia women was influenced by knowledge, psychological, sociocultural and medical system factors. In terms of knowledge, most of the Malaysian patients were observed to have cursory information and the reliance on the information provided by media was limiting. Among psychological factors, stress and sense of denial were some of the common factors leading to delay in treatment seeking. Family member's advice, cultural beliefs towards traditional care were some of the common sociocultural factors hindering immediate access to advanced medical diagnosis and care. Lastly, the delay in referral was one of the most common health system-related problems highlighted in most of the studies. In conclusion, there is an immediate need to improve the knowledge and understanding of Malaysian women towards breast cancer. Mass media should liaise with the cancer specialists to disseminate accurate and up-to-date information for the readers and audience, helping in modification of cultural beliefs that hinder timing health seeking. However, such intervention will not improve or rectify the health system related barriers to treatment seeking. Therefore, there is an immediate need for resource adjustment and training programs among health professional to improve their competency and professionalism required to develop an efficient health system.

• Progress in Medical Physics
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• v.24 no.3
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• pp.183-190
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• 2013

Recently, the photoacoustic imaging system has been widely and intensively developed, and has been shown the possibility of diagnosis for early stage cancer. In this study, we developed a photoacoustic tomography imaging system with a commercial ultra sound device and a linear array probe. A tube phantom and a chicken breast phantom was made for the possibility of a system as a breast cancer detection. A moving average filter and a band pass filter with 3~6 MHz bandwidth were developed for background noise elimination before delay-and-sum beamforming algorithm was used for image reconstruction. As a result, we showed that some signal processing procedure before beamforming was effective for the photoacoustic image reconstruction.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.19-24
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• 2016

Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cases, it is the most common feature described in patients who present the 5q33.3q35.1 deletion. Here, we report a case of a de novo deletion of 5q33.3q35.1, 46,XY,del(5)(q33.3q35.1) in an 11-year-old boy with mental retardation; to the best of our knowledge this is the first case in Korea to be reported. He was diagnosed with severe mental retardation, developmental delay, facial dysmorphisms, dental anomalies, and epilepsy. Chromosomal microarray analysis using the comparative genomic hybridization array method revealed a 16-Mb-long deletion of 5q33. 3q35.1(156,409,412-172,584,708)x1. Understanding this deletion may help draw a rough phenotypic map of 5q and correlate the phenotypes with specific chromosomal regions. The 5q33.3q35.1 deletion is a rare condition; however, accurate diagnosis of the associated mental retardation is important to ensure proper genetic counseling and to guide patients as part of long-term management.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.24
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• pp.10867-10869
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• 2015

Background: There are various patient and professional factors responsible for the delay in start of treatment (SOT) for head and neck cancers (HNC). Materials and Methods: This retrospective study was conducted on data for HNC patients registered at the hospital cancer registry in North-East India. All cases diagnosed during the period of January 2010 to December 2012 were considered for the present analysis. Educational levels of all patients were clustered into 3 groups; illiterates (unable to read or write), qualified (school or high school level education), and highly qualified (college and above). Results: In the present analysis 1066 (34.6%) patients were illiterates, 1,869 (60.6%) patients were literates and 145 (4.7%) of all patients with HNC were highly qualified. The stage at diagnosis were stage I, seen in 62 (34.6%), stage II in 393 (12.8%), stage III in 1,371 (44.5%) and stage IV in 1,254 (40.7%). The median time (MT) to the SOT from date of attending cancer hospital (DOACH) was, in illiterate group MT was 18 days, whereas in the qualified group of patients it was 15 days and in the highly qualified group was 10 days. Analysis of variance showed there was a significant difference on the mean time for the delay in SOT from DOACH for different educational levels (F=9.923, p=0.000). Conclusions: Educational level is a patient related factor in the delays for the SOT in HNCs in our population.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.2
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• pp.1141-1145
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• 2013

Delay in seeking treatment for breast cancer is a barrier to the early diagnosis and management of the disease, resulting in a poorer prognosis. We here estimated the prevalence of delayed presentation for breast cancer and identified possible influential sociodemographic factors in a cross-sectional study of 250 patients diagnosed with primary breast cancer at the Radiotherapy and Oncology Clinic in Kuala Lumpur Hospital. Data were collected by face-to-face interview using a structured questionnaire and from medical records. We examined associations between delayed presentation (presenting to a physician more than 3 months after self-discovery of a symptom) and sociodemographic characteristics, practice of breast self examination (BSE), history of benign breast disease, family history of breast cancer and type of symptom, symptom disclosure and advice from others to seek treatment using multiple logistic regression. Time from self-discovery of symptom to presentation ranged from tghe same day to 5 years. Prevalence of delayed presentation was 33.1% (95%CI: 27.4, 39.3). A significantly higher proportion of delayers presented with late stages (stage III/IV) (58.3% vs. 26.9%, p<0.001). Divorced or widowed women (OR: 2.23, 95% CI: 1.11, 4.47) had a higher risk of delayed presentation than married women and women who never performed breast self examination were more likely to delay presentation compared to those who regularly performed BSE (OR: 2.74, 95% CI: 1.33, 5.64). Our findings indicate that delayed presentation for breast cancer symptoms among Malaysian women is high and that marital status and breast self examination play major roles in treatment-seeking for breast cancer symptoms.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.2
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• pp.104-110
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• 2013

Purpose: Phenylketonuria (PKU) is the first inherited metabolic disease of which treatment is known. We performed this study to find out clinical symptoms and prognosis of tetrahydrobiopterin (BH4) responsive PKU patients and genetic relation. Methods: Clinical, biochemical, genetic analysis were done retrospectively in 23 patients diagnosed BH4 responsive PKU in Soonchunhyang University Hospital from March 2000 to September 2012. Results: Patients were classified to mild hyperphenylalaninemia and mild phenylketonuria with initial plasma phenylalanine level below 20 mg/dL. After BH4 loading, blood phenylalanine decrease level ranged between 37% and 99%. Initial treatment with low phenylalanine formula or BH4 was started before 2 month after birth except 2 patients. And one of them resulted in developmental delay in language and social activity. The others showed satisfactory progress without developmental delay. In genetic analysis, of 46 allele, R241C allele mutation was identified most commonly (41%). R241C/A259T, R241C/R243Q, R241C/V388M, R241C/T278I was detected in 5 (21.7%), 3 (13%), 2 (8%), 2 (8%) patients, respectively. Conclusion: R241C mutation was detected most frequently in this study group and R243Q mutation which is known to be prevalent in Korean PKU patients was found in 4 patients (8.6%). Early diagnosis and treatment is important in PKU patients.

• Clinical and Experimental Pediatrics
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• v.62 no.5
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• pp.187-192
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• 2019

Purpose: The importance of the neurodevelopmental outcomes of very-low-birth-weight (VLBW) infants has been emphasized as their mortality rate has markedly improved. This study aimed to assess the validity of the Korean Developmental Screening Test (K-DST), a developmental screening tool approved by the Korean Society of Pediatrics, for the timely diagnosis of neurodevelopmental delay in VLBW infants. Methods: Subjects included VLBW infants enrolled in the Korean Neonatal Network database between January 2012 and December 2014. The collected data were analyzed for sensitivity, specificity, positive predictive value, and negative predictive value (NPV) in the K-DST compared to those in the Bayley Scales of Infant Development-II for VLBW infants. Results: A total of 173 patients were enrolled. Their mean gestational age and mean birth weight were $27.5{\pm}2.8weeks$ and $980.5{\pm}272.1g$, respectively. The frequency of failed psychomotor developmental index (PDI) <85 was similar to that in at least one domain of K-DST <1 standard deviation. Failure in more than one K-DST domain compared with a mental developmental index (MDI) <85 showed a sensitivity and NPV of 73.2% and 75.0%, respectively. Failure in more than one K-DST domain compared with PDI <85 showed a sensitivity and NPV of 60.3% and 71.6%, respectively. Each K-DST domain had a stronger correlation with predicting a failing MDI <85 than a failing PDI <85 (P<0.05). Conclusion: K-DST could be a useful screening tool for predicting mental developmental delay in VLBW infants and referring them for neurodevelopmental assessments.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.127-131
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• 2021

Autosomal recessive spinocerebellar ataxia 20 (SCAR20; OMIM #616354) is a recently described disorder that is characterized by ataxia, intellectual disability, cerebellar atrophy, macrocephaly, coarse face, and absent speech. It is caused by loss-of-function mutations in SNX14. To date, all cases with homozygous pathogenic variants have been identified in consanguineous families. This report describes the first Korean cases of SCAR20 family caused by homozygous variants in SNX14. Two siblings were referred to our clinic because of severe global developmental delay. They presented similar facial features, including a high forehead, long philtrum, thick lips, telecanthus, depressed nasal bridge, and broad base of the nose. Because the older sibling was unable to walk and newly developed ataxia, repeated brain magnetic resonance imaging (MRI) was performed at the age of 4 years, revealing progressive cerebellar atrophy compared with MRI performed at the age of 2 years. The younger sibling's MRI revealed a normal cerebellum at the age of 2 years. Whole-exome sequencing was performed, and homozygous variants, such as c.2746-2A>G, were identified in SNX14 from the older sibling. Sanger sequencing confirmed homozygous SNX14 variants in the two siblings as well as a heterozygous variant in both parents. This report extends our knowledge of the phenotypic and mutational spectrum of SCAR20. We also highlight the importance of deep phenotyping for the diagnosis of SCAR20 in individuals with developmental delay, ataxia, cerebellar atrophy, and distinct facial features.