• Title/Summary/Keyword: Diagnosis prevalence

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Renal and Renovascular Hypertension in Children (소아의 신성 고혈압)

  • Hahn, Hye-Won
    • Childhood Kidney Diseases
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    • v.15 no.1
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    • pp.1-13
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    • 2011
  • Hypertension is a major risk factor of atherosclerosis which results in cardiovascular disease, and remains a major health problem worldwide. While children are more likely to have secondary hypertension, recent studies support the theory that the prevalence of essential hypertension in children and adolescents is increasing with the global epidemic of childhood obesity, and close attention is needed. Evaluation of hypertension in the pediatric age group should be guided by the age at presentation, and renal diseases must be considered in every child with hypertension, because of the prevalence of renovascular and renal parenchymal disorders as the etiology in any age group. The majority of children with chronic kidney disease are hypertensive, and many have associated end organ damage. Thus, once hypertension has been confirmed, end organ care as well as pharmacologic therapy must be continued. In renovascular hypertension, as cure could be gained with surgical/endovascular intervention, accurate diagnosis is important and it is recommended that every suspected child should undergo angiography.

Basal cell nevus syndrome with excessive basal cell carcinomas

  • Kim, Choon Soo;Na, Young Cheon
    • Archives of Craniofacial Surgery
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    • v.22 no.2
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    • pp.122-125
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    • 2021
  • Basal cell nevus syndrome (BCNS), also known as basal cell carcinoma nevus syndrome, Gorlin syndrome, Gorlin-Goltz syndrome, and nevoid basal cell carcinoma, is a rare autosomal dominant disorder with a prevalence of approximately 1/60,000. A lower prevalence rate of 1/13,939,393 has also been reported in Korea. We report the case of a 40-year-old male patient with multiple black pigmented macules on the face that first appeared when he was a teenager. His clinical features of jaw cysts, bifid ribs, and calcification of the falx cerebri were fitting within the criteria for the diagnosis of BCNS. We excised all suspected macules and sent permanent biopsy. Most of the histological examinations of the biopsy samples taken during surgical excision of the face masses showed basal cell carcinomas. Ten months after the surgery, the patient has remained free from symptoms and is undergoing follow-up observation.

Exonic copy number variations in rare genetic disorders

  • Man Jin Kim
    • Journal of Genetic Medicine
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    • v.20 no.2
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    • pp.46-51
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    • 2023
  • Exonic copy number variation (CNV), involving deletions and duplications at the gene's exon level, presents challenges in detection due to their variable impact on gene function. The study delves into the complexities of identifying large CNVs and investigates less familiar but recurrent exonic CNVs, notably enriched in East Asian populations. Examining specific cases like DRC1, STX16, LAMA2, and CFTR highlights the clinical implications and prevalence of exonic CNVs in diverse populations. The review addresses diagnostic challenges, particularly for single exon alterations, advocating for a strategic, multi-method approach. Diagnostic methods, including multiplex ligation-dependent probe amplification, droplet digital PCR, and CNV screening using next-generation sequencing data, are discussed, with whole genome sequencing emerging as a powerful tool. The study underscores the crucial role of ethnic considerations in understanding specific CNV prevalence and ongoing efforts to unravel subtle variations. The ultimate goal is to advance rare disease diagnosis and treatment through ethnically-specific therapeutic interventions.

Diagnosis and Treatment of Nontuberculous Mycobacterial Lung Disease: Clinicians' Perspectives

  • Ryu, Yon Ju;Koh, Won-Jung;Daley, Charles L.
    • Tuberculosis and Respiratory Diseases
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    • v.79 no.2
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    • pp.74-84
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    • 2016
  • Nontuberculous mycobacteria (NTM) are emerging pathogens that affect both immunocompromised and immunocompetent patients. The incidence and prevalence of NTM lung disease are increasing worldwide and rapidly becoming a major public health problem. For the diagnosis of NTM lung disease, patients suspected to have NTM lung disease are required to meet all clinical and microbiologic criteria. The development of molecular methods allows the characterization of new species and NTM identification at a subspecies level. Even after the identification of NTM species from respiratory specimens, clinicians should consider the clinical significance of such findings. Besides the limited options, treatment is lengthy and varies by species, and therefore a challenge. Treatment may be complicated by potential toxicity with discouraging outcomes. The decision to start treatment for NTM lung disease is not easy and requires careful individualized analysis of risks and benefits. Clinicians should be alert to those unique aspects of NTM lung disease concerning diagnosis with advanced molecular methods and treatment with limited options. Current recommendations and recent advances for diagnosis and treatment of NTM lung disease are summarized in this article.

Trichinosis Imitating an Inflammatory Systematic Disease

  • Kosmidou, Maria;Papamichail, Georgios;Klouras, Eleftherios;Tsamis, Konstantinos;Sarmas, Ioannis;Rapti, Iro;Milionis, Haralampos
    • Parasites, Hosts and Diseases
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    • v.59 no.5
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    • pp.497-499
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    • 2021
  • Trichinellosis (trichinosis) is a parasitic infection caused by nematodes of the genus Trichinella. Pigs are the most common source of human infection. We describe a case of a 47-year-old woman presented with a wide range of intermittent symptoms including prolonged fever, dry cough, diarrhea, rash, myalgias and arthralgias. The patient was attended by physicians with various medical specialties such as dermatologists, rheumatologists and allergiologists, but they did not establish a certain diagnosis because of the gradual onset of symptoms, raising the suspicion of a systematic disease. After extensive work up, the diagnosis of trichinosis was established with femoral muscle biopsy compatible with inflammatory myopathy of parasitic etiology with trichinosis to be the predominant diagnosis. Despite the significant delay of diagnosis for almost three months, patient was treated successfully with no further complications. Trichinellosis is a food-borne treatable infection. Preventive measures include community education especially in zones where parasite prevalence is increased, improvement of farming and cooking techniques.

Diagnosis and Management of Sarcopenia after Hip Fracture Surgery: Current Concept Review

  • Jun-Il Yoo;Jung-Taek Kim;Chan Ho Park;Yonghan Cha
    • Hip & pelvis
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    • v.34 no.1
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    • pp.1-9
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    • 2022
  • To date, family medicine and internal medicine fields have been responsible for defining, researching, and development of treatments for sarcopenia, focusing mainly on diabetes and metabolic diseases. Therefore, application of current guidelines for diagnosis of sarcopenia which differ according to continent to patients with hip fractures in the orthopedic field is difficult. The purpose of this review was to understand the recent consensus on the definition and diagnosis of sarcopenia and to highlight the importance of research and future research opportunities on the management of sarcopenia in patients with hip fractures by orthopedic surgeons. The global prevalence of sarcopenia in patients with hip fractures is statistically significant. Despite establishment of various therapeutic and diagnostic criteria for osteoporosis in the clinical field, there are no clear, useful diagnostic criteria for sarcopenia in the clinical field. In particular, few studies on the evaluation and treatment of sarcopenia in patients with hip fractures have been reported. In addition, the quality of life of postoperative patients with hip fractures could be significantly improved by development of precise assessment for muscle regeneration and rehabilitation in the operating room.

Flat Foot Survey in 8 Year Old Primary School Children (8세 초등학생의 편평족 조사)

  • Park, In-Heon;Song, Kyung-Won;Shin, Sung-Il;Lee, Jin-Young;Lee, Seung-Yong;Kim, Tae-Heung;Park, Jae-Yong
    • Journal of Korean Foot and Ankle Society
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    • v.8 no.1
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    • pp.7-10
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    • 2004
  • Purpose: To estimate the prevalence of flat foot in the 1st grade primary school children in the Kang-Dong Gu, Seoul, Korea. Materials and Methods: We examined 1336 8 year old the first grade children (2672 feet) in primary school at 5 primary school for prevalence of flat foot and the associating factors in Kang-Dong Gu in April 2003. The group was examined with 2 mm-pannel in physical examination at erect position to put diagnosis of flat foot which showed no plantar arch. The height, weight, foot length and foot width were estimated in all children. We used obesity grading system of Korean Pediatric Association for overweight evaluation. Results: We enrolled 728 boys and 608 girls, and prevalences of each gender were 20.8% and 14.9%. The children who had flat foot were 243 and the prevalence of flat foot was 18.2%. The foot length ranges between 152 mm and 300 mm (mean value 183.6 mm, SD 10.6), and the foot width were between 50 mm and 107 mm (mean value 2.16 mm, SD 4.8). Of the 1336 children group, 1215 children (90.0%) were in range of normal weight, 72 children (5.4%) were in grade-1 overweight, 38 (2.8%) were in grade-2 overweigh and, 11 (0.8%) were in grade-3 overweight. The prevalence of flat foot of each overweight group were 16.3%, 34.7%, 39.5% and 45.5%. Overweight in children effected increased prevalence of flat foot. But there were no significant relationship with flat foot in other factors. Conclusion: Over all prevalence of flat foot of 8 year old children was 18.2% and most of patients were flexible flat foot. The prevalence of flat foot was influenced by overweight remarkably.

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Prevalence and Age, Gender and Geographical Area Distribution of Esophageal Squamous Cell Carcinomas in North China from 1985 to 2006

  • Feng, Xiao-Shan;Yang, Yan-Tong;Gao, She-Gan;Ru, Yi;Wang, Gong-Ping;Zhou, Bo;Wang, Yu-Feng;Zhang, Peng-Fei;Li, Pu-Yu;Liu, Yong-Xuan
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.5
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    • pp.1981-1987
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    • 2014
  • Objective: To establish the prevalence and distribution profile of esophageal squamous cell carcinomas (ESCCs) over a 22-yr period in North China. Methods: Using endoscopy for primary diagnosis and histological analysis for the further confirmation, a total of 74,854 ESCC patients aged 20-89 between January 1985 and December 2006 were investigated to analyze the epidemiological profile including prevalence rates, distribution of age-of-onset, gender and geographical area of ESCC in Luoyang, the highest incidence area of North China. Results: A total of 4092 cases of ESCC were finally diagnosed among 74,854 patients who had their first endoscopies. The prevalence among males was higher than that among females (p<0.01), resulting in an overall male:female OR of 1.2 (95%CI, 1.2-1.3). The prevalence in rural areas was higher than in urban areas (p<0.01), resulting in an overall rural:urban OR of 2.6 (95%CI, 2.4-2.9). The rural:urban ORs and the 95% CI increased continuously from 2.6, 2.3-3.0 to 2.7, 2.2-3.3, respectively, for 4 consecutive periods during the 22-yr study period. Moreover, the median age of onset among females was higher than that among males (p<0.01). For both sexes and in both areas, the prevalence rates declined and the median age of onset rose for 4 consecutive periods in the 22-yrs time frame (p<0.01). Conculsions: These data reveal the epidemiological profile of ESCC in the area of North China, and suggest that urban areas and rural people account for a growing proportion of the ESCC patients although the prevalence of ESCC significantly declined and the median age-of-onset postponed over the 22-yrs period. Moreover, the prevalence status of ESCC in rural areas also underlines the need for public health initiatives aimed at reducing risk factors of this fatal disease.

Changes in the Prevalence of Biopsy-proven Helicobacter pylori Infection in Korean Children with Functional Recurrent Abdominal Pain Over the Last 18 Years (최근 18년간 한국 소아 Helicobacter pylori 유병률의 변화: 기능성 반복성 복통 소아에서 연도별 내시경 진단 양성률의 감소에 관한 연구)

  • Lee, So-Yeon;Ko, Jae-Sung;Seo, Jeong-Kee
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.12 no.2
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    • pp.150-155
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    • 2009
  • Purpose: The aim of this study was to evaluate observed changes in the prevalence of biopsy-proven Helicobacter pylori infection in Korean children with functional recurrent abdominal pain during the past 18 years. Methods: Between July 1991 and December 2008, 1,194 children with functional recurrent abdominal pain (499 males and 695 females) 9.2${\pm}$3.1 years of age were included. Upper gastrointestinal endoscopies were performed in all patients. H. pylori infection was assessed by the CLO test. Changes in the prevalence of the endoscopic diagnosis of H. pylori infection during 18 years were analyzed. Results: The prevalence of H. pylori infection between 1991 and 1993, 1994 and 1996, 1997 and 1999, 2000 and 2002, 2003 and 2005, and 2006 and 2008 were 25.1% (56/223), 23.1% (45/195), 19.3% (28/145), 16.1% (39/242), 11.3% (24/213), and 10.8% (19/176), respectively; these serial decreases in the prevalence over 18 years were statistically significant (p<0.001). Regardless of gender and age, the prevalence of H. pylori infection decreased. This decrease was inversely related to socioeconomic improvement as represented by the per capita gross national income growth of Korea. Conclusion: The prevalence of H. pylori infection has decreased significantly for the past 18 years in Korean children. This decrease might be caused by an improvement in socioeconomic status.

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The Prevalence, Subtypes and Risk Factors of Irritable Bowel Syndrome by ROME III among Korean University Students (ROME III에 의한 국내 대학생의 과민성 장 증후군의 유병률, 증상유형 및 위험요인)

  • Park, Mi-Jung;Lee, Kyung-Sook;Jeong, Jae-Sim;Kim, Joo-Hyun;Choi, Jung-An;Shin, Gi-Soo;Choe, Myoung-Ae
    • Journal of Korean Biological Nursing Science
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    • v.13 no.1
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    • pp.61-71
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    • 2011
  • Purpose: The purpose of the present study was to investigate the prevalence, subtypes and risk factors of irritable bowel syndrome by ROME-III among Korean university students. Methods: This study was descriptive survey research. The sampls were 796 and variables were measured by structured questionaire. Rome-III criteria was used for diagnosis of IBS. The gathered data were analyzed with %, $x^2$-test, t-test, logistic regression by SPSS win 17.0. Results: The students with IBS were 61 (7.7%) and the most of the subtype was IBS-M (42.6%). Meal (times/day), breakfast, stress, quality of sleep, neuroticism, bodily pain, general health, social function, role emotional restriction, mental health, somatization, obcessive-compulsive state, depression, anxiety, hostility, global severity index, positive symptom distress index, positive symptom were significantly different between IBS group and non-IBS group. The prevalence of IBS was low in the higher score of role emotional in general health state. There were more 2 times students who had score of the obsessive-compulsive in psychological health over the 50 than below the 50 in IBS group. Conclusion: 7.7% of students were diagnosed by Rome-III criteria and the most of the sybtype was IBS-M. The risk factors of IBS were role emotional restriction, obsessive-compulsive state.