• Journal of Interdisciplinary Genomics
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• v.2 no.1
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• pp.10-12
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• 2020

Coffin-Lowry syndrome (CLS) is a genetic disorder characterized by intellectual disability, typical facial features, and skeletal abnormalities. But this syndrome shows highly variable clinical manifestations, and can't be diagnosed with conventional chromosome analysis or comparative genomic hybridization, leading to delayed diagnosis. Here we report an 18-year-old boy with CLS diagnosed by whole exome sequencing. Our patient initially presented with developmental delay, facial dysmorphism at the age of 1. At the age of 18, he developed orthopnea due to mitral regurgitation. At the 22 years of age, he was diagnosed as CLS diagnosed by whole exome sequencing. Our case implies that clinical suspicion is important for early diagnosis, and advanced diagnostic tools such as WES should be considered in suspected cases.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.31 no.4
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• pp.214-224
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• 2020

Objectives: This study aimed to examine the trend in diagnostic prevalence of psychiatric disorders in children and adolescents. Methods: Individuals aged 0-18 years were included in the study based on the National Health Insurance Claims Data. To investigate the trends in diagnosis and diagnostic prevalence of psychiatric disorders reflecting the decrease in the birth rate, data were analyzed from 2010 as a reference year to 2015. Results: The number of patients diagnosed with psychiatric disorder decreased annually, from 23,412 on 2010 to 18,821 on 2015. The most common disorder was hyperkinetic disorder in male and depressive episode in female. Although there was no significant change in overall diagnostic prevalence rate of psychiatric disorders, age groups <10 years and some disorders had significant changes in prevalence rate. This study classified the diagnostic prevalence by age into two unique patterns: group in which the diagnosis rate increases with age and group in which the diagnosis rate peaks at a certain age and then decreases. Conclusion: Diagnostic prevalence of psychiatric disorders was different according to age and sex. These patterns should be reflected in the formulation of policies related to mental health and in medical practice for pediatric patients. It is urgent to identify how these patterns change in young adults.

• Child Health Nursing Research
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• v.29 no.4
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• pp.280-289
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• 2023

Purpose: This study investigated weight status in survivors of childhood acute lymphocytic leukemia (ALL) and identified related factors. Methods: A retrospective review of the electronic medical records of survivors of childhood ALL (n=230) was conducted. We analyzed the survivors' characteristics, including sex, age, weight status at diagnosis, central nervous system involvement, risk classification, length of treatment, radiation therapy, and hematopoietic stem cell transplantation. Analysis of variance and the chi-squared test were applied to investigate influencing factors. Results: The weight status distribution was as follows: 23 individuals (10.0%) were classified as underweight, 151 individuals (65.7%) were healthy weight, and 56 individuals (24.3%) were overweight/obese. Age at diagnosis (F=10.03, p<.001), weight status at diagnosis (x²=43.41, p<.001), and risk classification (F=10.98, p=0.027) showed significant differences among the weight status groups. Survivors who were older at diagnosis and those in the very high-risk category had a higher likelihood of experiencing underweight status during their survivorship, while survivors who were overweight/obese at diagnosis were more likely to remain overweight/obese at the time of survival. Conclusion: Considering the potential health implications related to an unhealthy weight status in survivors of ALL, it is imperative to undertake early identification and implement interventions for at-risk individuals.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.20 no.2
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• pp.79-86
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• 2017

Purpose: Congenital esophageal atresia (CES) is a rare congenital disease. The severity of symptoms is variable; thus, diagnosis is difficult and tends to be delayed. CES is frequently accompanied by esophageal atresia (EA) with/without tracheoesophageal fistula (TEF). We investigated the characteristics of CES by reviewing our experience with CES patients and researched the differences between CES with EA-TEF and isolated CES. Methods: A total of 31 patients underwent operations for CES were reviewed retrospectively. The patients were divided into two groups according to the association with EA-TEF, and compared the differences. Results: Sixteen boys and 15 girls were included. The mean age at symptom onset was 8 months old, and the mean age at diagnosis was 21 months old. Nine patients with EA-TEF were included group A, whereas the other 22 patients were assigned to group B. There were no differences in sex, gestational age, associated anomalies and pathologic results between the groups. In group A, the age at diagnosis and age at surgery were younger than in group B despite the age at symptom occurrence being similar. Postoperative complications occurred only in group A. Conclusion: In this study, symptoms occurred during the weaning period, and vomiting was the most frequent symptom. CES patients with EA-TEF tended to be diagnosed and treated earlier despite the age at symptom occurrence being similar. CES patients with EA-TEF had more postoperative complications; therefore, greater attention should be paid during the postoperative period.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.23 no.6
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• pp.501-510
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• 2020

Purpose: To develop a probability-based differential diagnosis for pediatric acute liver failure (PALF) based on age and socioeconomic status of the country of origin. Methods: Comprehensive literature search using PubMed, EMBASE, and SCOPUS databases was performed. Children 0-22 years of age who met PALF registry criteria were included. Articles included >10 children, and could not be a case report, review article, or editorial. No language filter was utilized, but an English abstract was required. Etiology of PALF, age of child, and country of origin was extracted from included articles. Results: 32 full text articles were reviewed in detail; 2,982 children were included. The top diagnosis of PALF in developed countries was acetaminophen toxicity (9.24%; 95% CredI 7.99-10.6), whereas in developing countries it was Hepatitis A (28.9%; 95% CredI 26.3-31.7). In developed countries, the leading diagnosis of PALF in children aged <1 year was metabolic disorder (17.2%; 95% CredI 10.3-25.5), whereas in developing countries it was unspecified infection (39.3%; CredI 27.6-51.8). In developed countries, the leading diagnosis in children aged >1 year was Non-A-B-C Hepatitis (8.18%; CredI 5.28-11.7), whereas in developing countries it was Hepatitis A (32.4%; CredI 28.6-36.3). Conclusion: The leading causes of PALF in children aged 0-22 years differ depending on the age and developmental status of their country of origin, suggesting that these factors must be considered in the evaluation of children with PALF.

• Clinical and Experimental Pediatrics
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• v.53 no.11
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• pp.931-935
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• 2010

Juvenile idiopathic arthritis (JIA) is comprised of a heterogeneous group of several disease subtypes that are characterized by the onset of arthritis before the age of 16 years and has symptoms lasting at least 6 weeks. The previous classification of JIA included seven different categories, whereas its current classification was compiled by the International League of the Association for Rheumatology, and replaced the previous terms of "juvenile chronic arthritis" and "juvenile rheumatoid arthritis," which were used in Europe or North America, respectively, with the single nomenclature of JIA. As mentioned above, JIA is defined as arthritis of unknown etiology that manifests itself before the age of 16 years and persists for at least 6 weeks, while excluding other known conditions. The clinical symptoms of JIA can be quite variable. Several symptoms that are characteristic of arthritis are not necessarily diagnostic of JIA and may have multiple etiologies that can be differentiated with careful examination of patient history. The disease may develop over days or sometimes weeks, thereby making the diagnosis difficult at the time of presentation. To make a clinical diagnosis of JIA, the first step is to exclude arthritis with known etiologies. Of note, late treatment due to excessive delay of diagnosis can cause severe damage to joints and other organs and impair skeletal maturation. Therefore, early detection of JIA is critical to ensure prompt treatment and to prevent long-term complications including the likelihood of disability in childhood.

• Journal of the korean academy of Pediatric Dentistry
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• v.51 no.2
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• pp.185-196
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• 2024

Temporomandibular joint disorders (TMDs) can occur at any age, including childhood and adolescence, and pain-related TMDs can affect growth and quality of life. In the present study, recent trends in the diagnosis and treatment of TMDs in children and adolescents were analyzed over a 10-year period. Using 10 years of data from the Health Insurance Review and Assessment Service (HIRA) and Jeonbuk National University (JBNU) Dental Hospital, patients between 0 and 19 years of age diagnosed with K07.6 (temporomandibular joint disorders) were analyzed by 5-year bins. Both datasets indicated a higher prevalence in females (1.2-fold in HIRA, 1.5-fold in JBNU) and in ages 15 to 19 years (72.1% in HIRA, 74.7% in JBNU). HIRA reported a 42.3% increase in prevalence per 100,000 people, from 651.4 in 2011 to 927.0 in 2020. JBNU reported K07.66 (masticatory muscle disorders) as the most common diagnosis in subjects under 10 years of age and K07.60 (internal derangement of temporomandibular joint) in those over 10 years of age. In addition, both were treated mainly by a combination of physical therapy and medication, and the treatment rate increased in accordance with age. Because TMDs can affect various structures in the orofacial region and cause pain that tends to differ with age, an early and specific diagnosis appropriate for age is important for treatment. Therefore, pediatric dentists need to promptly recognize TMDs in children and adolescents and consult with specialists as the prevalence increases.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.7
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• pp.3243-3248
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• 2016

Background: Stomach cancer is the fourth most common cancer and the second leading cause of death from cancer in the world. In Iran, this type of cancer has high rates of incidence and mortality. This study aimed to assess the survival rate of patients with stomach cancer and its determinants in Kurdistan, a province with one of the highest incidence rates of stomach cancer in the country. Materials and Methods: We studied a total of 202 patients with stomach cancer who were admitted to Tohid Hospital in Sanandaj from 2009 to 2013. Using Kaplan-Meier nonparametric methods the survival rate of patients was calculated in terms of different levels of age at diagnosis, gender, education, residential area, occupation, underweight, and clinical variables including tumor histology, site of tumor, disease stage, and type of treatment. In addition, we compared the survival rates using the log-rank test. Finally, Cox proportional hazards regression was applied using Stata 12 and R 3.1.0 software. The significance level was set at 0.05. Results: The mean age at diagnosis was $64.7{\pm}12.0$ years. The survival rate of patients with stomach cancer was 43.9% and 7% at the first and the fifth year after diagnosis, respectively. The results of log-rank test showed significant relationships between survival and age at diagnosis, education, disease stage, type of treatment, and degree of being underweight (P<0.05). Moreover, according to the results of Cox proportional hazards regression model, the variables of education, disease stage, and type of treatment were associated with patient survival (P<0.05). Conclusions: The survival rate of patients with stomach cancer is low and the prognosis is very poor. Given the poor prognosis of the patients, it is critical to find ways for early diagnosis and facilitating timely access to effective treatment methods.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.6
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• pp.2895-2899
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• 2016

Background: Increasing breast cancer (BC) incidence rates have been reported from India; causal factors for this increased incidence are not understood and diagnosis is mostly in advanced stages. Trivandrum exhibits the highest BC incidence rates in India. This study aimed to estimate trends in incidence by age from 2005-2014, to predict rates through 2020 and to assess the stage at diagnosis of BC in Trivandrum. Materials and Methods: BC cases were obtained from the Population Based Cancer Registry, Trivandrum. Distribution of stage at diagnosis and incidence rates of BC [Age-specific (ASpR), crude (CR) and age-standardized (ASR)] are described and employed with a joinpoint regression model to estimate average annual percent changes (AAPC) and a Bayesian model to estimate predictive rates. Results: BC accounts for 31% (2681/8737) of all female cancers in Trivandrum. Thirty-five percent (944/2681) are <50 years of age and only 9% present with stage I disease. Average age increased from 53 to 56.4 years (p=0.0001), CR (per $10^5$ women) increased from 39 (ASR: 35.2) to 55.4 (ASR: 43.4), AAPC for CR was 5.0 (p=0.001) and ASR was 3.1 (p=0.001). Rates increased from 50 years. Predicted ASpR is 174 in 50-59 years, 231 in > 60 years and overall CR is 80 (ASR: 57) for 2019-20. Conclusions: BC, mostly diagnosed in advanced stages, is rising rapidly in South India with large increases likely in the future; particularly among post-menopausal women. This increase might be due to aging and/or changes in lifestyle factors. Reasons for the increased incidence and late stage diagnosis need to be studied.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.8
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• pp.4723-4725
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• 2013

Background: Bladder cancer is a major health problem, especially among men. Opium addiction can be an important risk factor. One important question is whether it can affect the age of onset of bladder cancer. We performed this study to evaluate this question. Materials and Methods: In a cross-section study, records of patients diagnosed with bladder carcinoma in Shahid Labbafinejad Medical Center, within 1999-2008 were included. Data were extracted from records regarding age at onset, gender, smoking status, and opioid addiction and analyzed with SPSS 13. Results: Within 10 years, 920 cases were diagnosed with bladder cancer of which 97 percent were transitional cell carcinoma. In 698 cases, opium addiction status was recorded in 21.3% (n=149). Age at diagnosis was $59.7{\pm}11.51$ (median: 60) among opioid addicts which was significantly lower than nonaddicts ($63.1{\pm}13.65$, Median: 65) (P<0.001). Conclusions: Opium addiction can decrease the age of onset of bladder cancer.