• Journal of Genetic Medicine
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• v.19 no.1
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• pp.32-37
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• 2022

Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase B due to mutations in the ARSB gene. Here, we report the case of a Korean female with a novel variant of MPS VI. A Korean female aged 5 years and 8 months, who is the only child of a healthy non-consanguineous Korean couple, presented at our hospital for severe short stature. She had a medical history of umbilical hernia and recurrent otitis media. Her symptoms included snoring and mouth breathing. Subtle dysmorphic features, including mild coarse face, joint contracture, hepatomegaly, and limited range of joint motion, were identified. Radiography revealed deformities, suggesting skeletal dysplasia. Growth hormone (GH) provocation tests revealed complete GH deficiency. Targeted exome sequencing revealed compound heterozygous mutations in the ARSB genes c.512G>A (p.Gly171Asp; a pathogenic variant inherited from her father) and c.1157C>T (p.Ser386Phe; a novel variant inherited from her mother in familial genetic testing). Quantitative tests revealed increased urine glycosaminoglycan (GAG) levels and decreased enzyme activity of arylsulfatase B. While on enzyme replacement therapy and GH therapy, her height increased drastically; her coarse face, joint contracture, snoring, and obstructive sleep apnea improved; urine GAG decreased; and left ventricular mass index was remarkably decreased. We report a novel variant-c.1157C>T (p.Ser386Phe)-of the ARSB gene in a patient with MPS VI; these findings will expand our knowledge of its clinical spectrum and molecular mechanisms.

• Korean Journal of Radiology
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• v.24 no.5
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• pp.465-475
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• 2023

Objective: To evaluate the feasibility of ultrasound shear wave elastography (SWE) for predicting hepatic fibrosis and native liver outcomes in patients with biliary atresia. Materials and Methods: This prospective study included 33 consecutive patients with biliary atresia (median age, 8 weeks [interquartile range, 6-10 weeks]; male:female ratio, 15:18) from Severance Children's Hospital between May 2019 and February 2022. Preoperative (within 1 week from surgery) and immediate postoperative (on postoperative days [PODs] 3, 5, and 7) ultrasonographic findings were obtained and analyzed, including the SWE of the liver and spleen. Hepatic fibrosis, according to the METAVIR score at the time of Kasai portoenterostomy and native liver outcomes during postsurgical follow-up, were compared and correlated with imaging and laboratory findings. Poor outcomes were defined as intractable cholangitis or liver transplantation. The diagnostic performance of SWE in predicting METAVIR F3-F4 and poor hepatic outcomes was analyzed using receiver operating characteristic (ROC) analyses. Results: All patients were analyzed without exclusion. Perioperative advanced hepatic fibrosis (F3-F4) was associated with older age and higher preoperative direct bilirubin and SWE values in the liver and spleen. Preoperative liver SWE showed a ROC area of 0.806 and 63.6% (7/11) sensitivity and 86.4% (19/22) specificity at a cutoff of 17.5 kPa for diagnosing F3-F4. The poor outcome group included five patients with intractable cholangitis and three undergoing liver transplantation who showed high postoperative liver SWE values. Liver SWE on PODs 3-7 showed ROC areas of 0.783-0.891 for predicting poor outcomes, and a cutoff value of 10.3 kPa for SWE on POD 3 had 100% (8/8) sensitivity and 73.9% (17/23) specificity. Conclusion: Preoperative liver SWE can predict advanced hepatic fibrosis, and immediate postoperative liver SWE can predict poor native liver outcomes in patients with biliary atresia.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.19 no.3
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• pp.162-167
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• 2016

Purpose: To determine the socio-economic impact of gluten free diet (GFD) on Saudi children and their families Methods: A cross-sectional study was conducted in which an online questionnaire was sent to all families registered in the Saudi celiac patients support group. We included only children (age 18 years of age and younger) with biopsy-confirmed celiac disease (CD). Results: A total of 113 children were included in the final analysis, the median age was 9.9 years; 62.8% were females. One hundred (88.5%) of the participating families reported that GFD food was not easily available in their areas, 17% of them reported that it was not available at all in their area. One hundred and six (93.8%) reported that the price of GFD food was very expensive and 70 (61.9%) families that the diet was heavily affecting their family budget. Significant social difficulties were reported among the participating families and their children including interference with the child's interaction with other children (49.6%), the families' ability to attend social gatherings (60.2%), the families' ability to eat in restaurants (73.5%), and the families' ability to travel (58.4%). Conclusion: There is significant negative socio-economic impact of GFD on children with CD & their families. Health care providers should be aware of these psycho-social difficulties and be well trained to provide a proper education and psychological support for these patients and their families.

• Childhood Kidney Diseases
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• v.24 no.1
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• pp.47-52
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• 2020

Pneumocystis pneumonia (PCP) is a rare disease in healthy people but a potentially fatal opportunistic infection by Pneumocystis jirovecii in immunocompromised patients with organ transplantation. We present three cases of PCP after kidney transplantation in pediatric patients. First case was a 4-year-old boy diagnosed with Denys-Drash syndrome and received living-donor kidney transplantation from his mother at age of 1. Second case was a 19-year-old male, with polycystic kidney disease, who received kidney transplantation from his mother at the age of 18. Third case was a 19-year-old female with chronic kidney disease of unknown etiology, who received kidney transplantation from her father at age of 15. These three patients who were on immunosuppressive therapy and completed of routine PCP prophylaxis for 6 months had presented with cough and dyspnea more than 1 year after transplantation. Chest x-ray all showed diffuse haziness of both lung fields, and bronchoalveolar lavage from bronchoscopy revealed Pneumocystisjirovecii infection. All patients showed clinical resolution with intravenous trimethoprim-sulfamethoxazole (TMP-SMX) therapy for at least 3 weeks and had continued secondary prophylaxis for another 6-12 months. This report suggests that clinicians should have suspicion for the possibilities of opportunistic infection such as PCP after kidney transplantation in children.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.17
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• pp.7271-7275
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• 2014

Background: The aim of the present study was to evaluate the presentation, clinical course and outcome between children and young adults with differentiated thyroid cancer (DTC) treated in our hospital. Materials and Methods: The medical records of 145 patients with DTC who underwent surgery followed by radioiodine and thyroid hormone (TSH) suppression were retrospectively reviewed. The follow up was between January 2006 and June 2012. These patients consisted of 38 children (age${\leq}18y$) and 107 young adult patients (age${\leq}30y$). The clinical characteristics and outcome were analyzed and compared, and the progression-free survival (PFS) was evaluated using the Kaplan-Meier method. Results: At initial diagnosis, a greater degree of extra thyroidal extension was found in children than adults patients (p<0.001). However, there was no significant difference between the two groups with regard to the tumor size and the presence of lymph node or distant metastasis (p=0.172, p=0.050 and p=0.068, respectively). The extent of surgery and the cumulative or mean dose of radioiodine were similar in both groups. During the follow up, the overall survival rate was 100% for both groups, and the PFS rate was similar in children and in young adults group (log rank test, ${\chi}^2$=0.126, p=0.723). Conclusions: In comparison to the young adult patients, DTC in children presents with more aggressive behavior, but outcomes are similar between the two groups after the intensive management of surgery followed by radioiodine and TSH suppression therapy.

• The Journal of Pediatrics of Korean Medicine
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• v.24 no.3
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• pp.58-67
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• 2010

Objectives: The objective of this study was to evaluate the correlations between the Weak Children Questionnaire result and K-CBCL score. Also, this study was designed to define the cut off values of Heart Weak Scores by using 'K-CBCL' which represents the total behavior problems scores 50T in order to detect Heart Weak in Children Methods: 271 elementary school students in Daejeon answered the questionnaire and the data was analyzed. Results: There were high correlations between Heart Weak Score and K-CBCL which in a total behavior problems scores. The cut off values of Heart Weak Score, K-CBCL, a total behavior problems scores 50T, were calculated by ROC curve analysis. To diagnose as a Heart Weak Children, the correspondent cut off values for Heart Weak Score were 11 in boys and 8 in girls. Conclusions: To diagnose as a Heart Weak in Children, the correspondent cut off values for Heart Weak Score were 11 in boys and 8 in girls.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.18 no.1
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• pp.23-29
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• 2015

Purpose: To describe the clinical characteristics of celiac disease (CD) among Saudi children and to determine the adherence rate to gluten free diet (GFD) and its determinant factors among them. Methods: A cross-sectional study was conducted, in which all the families registered in the Saudi Celiac Patients Support Group were sent an online survey. Only families with children 18 years of age and younger with biopsy-confirmed CD were included. Results: The median age of the 113 included children was 9.9 years, the median age at symptom onset was 5.5 years and the median age at diagnosis was 7 years, the median time between the presentation and the final diagnosis was 1 year. Sixty two of the involved children were females. Ninety two percent of the patients were symptomatic at the diagnosis while eight percent were asymptomatic. The commonest presenting symptoms included: chronic abdominal pain (59.3%), poor weight gain (54%), abdominal distention, gases, bloating (46.1%) and chronic diarrhea (41.6%). Sixty percent of the involved children were reported to be strictly adherent to GFD. Younger age at diagnosis and shorter duration since the diagnosis were associated with a better adherence rate. Conclusion: CD has similar clinical presentations among Saudi children compared to other parts of the ward; however, the adherence to GFD is relatively poor. Younger age at diagnosis and shorter duration since the diagnosis were associated with a better adherence rate.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.25 no.2
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• pp.121-128
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• 2022

Purpose: Abdominal migraine (AM) is a very common functional gastrointestinal disorder in children. This study reports the clinical features and response of AM to prophylactic treatment in children. Methods: This retrospective study was conducted between January 2010 and December 2019 at the Royal Hospital in the Sultanate of Oman. This study included children aged ≤ 13 years with a diagnosis of AM based on the Rome IV criteria for functional diagnoses. Clinical, demographic, and treatment data were collected. Results: Seventy-four children were identified, of which 43 were eligible for inclusion in this study. The median age at the onset of symptoms was 7 years (range, 2-12 years). The most frequent symptoms were headache (81.4%), nausea (79.1%), and vomiting (72.1%). Of the total cohort, 46.5%, 23.3%, and 6.9% received riboflavin, pizotifen, and propranolol monotherapy, respectively. Combination therapy was also used; 16.3% of children received pizotifen and propranolol, 4.7% received riboflavin and pizotifen, and 2.3% received riboflavin and propranolol. Patients treated with propranolol monotherapy showed 100% clinical improvement and those treated with riboflavin or pizotifen monotherapy showed 90% clinical improvement. Response to combination therapy with pizotifen and propranolol was 71.4%, and with riboflavin and pizotifen was 100%. In addition, treatment response was significantly associated with the presence of vomiting (p=0.039). Conclusion: We found a favorable response to various modalities and combination treatments with riboflavin, pizotifen, and propranolol in children with AM. In addition, the presence of vomiting may predict treatment response.

• Clinical and Experimental Pediatrics
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• v.65 no.4
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• pp.194-200
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• 2022

Background: Injury is the leading cause of death or disability in children and adolescents. Rates of deaths from injuries have recently declined, but studies of the occurrence of nonfatal injuries are lacking. Purpose: This study aimed to investigate nonfatal injuries in children and adolescents younger than 20 years based on data from the Korean National Health and Nutrition Survey, 2007-2018. Methods: A questionnaire survey was conducted to determine whether children and adolescents had experienced an injury requiring a hospital visit in the previous year. We investigated each injury's risk factors and characteristics. Results: Of a total of 21,598 children and adolescents, 1,748 (weighted percentage, 8.1%) experienced one or more injuries in the previous year. There was no yearly difference in the proportion of injuries experienced. Among the male subjects, 10.0% had an injury experience; among the female participants, 6.1% had an injury experience (P<0.001). The highest rate was 9.0% in children aged 1-4 years. In multivariate logistic regression analysis, male sex; having an urban residence; having restricted activity due to visual, hearing, or developmental impairment; and attention deficit/hyperactivity disorder were significant risk factors for injury experience. The characteristics of up to 3 injuries per patient were investigated, and 1,951 injuries were analyzed. Falls and slips accounted for 34.9%, collisions for 34.1%, and motor vehicle accidents for 11.3% of the total injuries. Ninety-six percent of injuries were unintentional, 20% caused school absences, and 10% required hospitalization. Conclusion: Among Korean children and adolescents, 8.1% experienced injuries at least once a year with no significant differences in incidence over the past 12 years. Greater attention and effort to prevent injuries are needed.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.21 no.1
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• pp.72-75
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• 2018

Colorectal carcinoma is a well-known malignancy in adults. However, it is rare in children. Besides, it also has different behaviour in paediatric age-group and usually presents with non-specific symptoms like abdominal pain, weight loss, and anaemia. This usually leads to delay in diagnosis. Adenocarcinoma in children has unfavourable tumour histology (mucinous subtype) and advanced disease stage at presentation which lead to poorer prognosis in children. Family history, genetic typing and sibling screening are essential components of management as this malignancy is frequently seen associated with hereditary syndromes. We describe a case of unusual presentation of rectal carcinoma in a 12-year-old girl.