• Journal of Genetic Medicine
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• 제16권1호
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• pp.15-18
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• 2019

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

• Clinical and Experimental Pediatrics
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• 제64권9호
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• pp.443-458
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• 2021

In Korea, several national cross-sectional surveys monitor the diet, nutritional status, and health status of children. This continual dedicated national surveillance system contributes to the identification of nutritional and health issues, establishment of public health policies, and development of nutrition recommendations. This paper provides recent information about the Korea National Health and Nutrition Examination Survey and the Korean Youth Risk Behavior Web-based Survey and describes key nationwide survey findings published in the last 5 years on infant feeding practices and the dietary intake and nutritional status of Korean infants, children, and adolescents. There have been increasing trends in children, and teenagers who skip breakfast, eat fast food, consume sugary drinks, have vitamin D deficiency, and are obese. This review will inform pediatricians, nutritionists, and other health care practitioners who track children's growth and development. It may also help researchers and policymakers identify diet-related policies and strategies for chronic disease prevention in Korean infants, children, and adolescents.

• Pediatric Infection and Vaccine
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• 제27권3호
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• pp.190-197
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• 2020

소아에서 후두기관지염이 진균에 의해 발생하는 경우는 매우 드물고 주로 선행 요인이 있는 환자에 보고된다. 또한, Aspergillus 감염에 의한 후두기관지염은 초기에 무증상이거나 가슴 X선 사진에서 특이점이 없는 경우가 많아 조기 진단이 어렵다. 저자는 피부증상과 비감염성 발열을 조절하기 위해 장기간 저용량 스테로이드를 사용했던 복용력이 있는 일차성 면역 결핍 질환이 의심되는 환자에서 점진적인 호흡 부전을 보였고 가막성 아르페르길루스증(Pseudomembranous aspergillosis)에 의한 후두기관지염으로 밝혀진 사례를 보고하여 Aspergillus 후두기관지염의 고위험 환자군에서 조기 진단을 통한 치료의 중요성을 알리고자 한다.

• Journal of Preventive Medicine and Public Health
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• 제57권2호
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• pp.157-166
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• 2024

Objectives: Children with disabilities may exhibit a multitude of symptoms, and treatment requires a multidisciplinary approach for a satisfactory outcome. Lack of awareness among physicians, lack of referral, and lack of inter-sectoral coordination have hindered paediatric practice in Tamil Nadu, a state in India with a striking childhood disability rate that warrants a timely interdisciplinary approach. However, the perspectives of paediatricians on paediatric physiotherapy are unknown. The aim of the study was to investigate the perspectives of practicing paediatric physicians in Chennai on the role of physiotherapy in paediatrics. Methods: For an in-depth exploration, qualitative semi-structured interviews were conducted in person with 10 paediatricians. Audio from the sessions was recorded and transcribed, and data saturation was achieved through iterative analysis. Results: A grounded theory analysis of the results yielded 5 domains under which the perspectives and expectations of the physicians were described, along with the barriers experienced by patients' parents as explained by their paediatrician. The responses highlighted deficits in awareness, structural support, accessibility and direct communication between physicians and physiotherapists. Conclusions: Paediatric physicians have different opinions, and some ignorance persists concerning paediatric physiotherapy. This study warrants a proper structure of the paediatric rehabilitation unit and regular interdisciplinary meetings and focus group discussions to increase access for parents and improve patient outcomes.

• 여성건강간호학회지
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• 제6권3호
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• pp.348-357
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• 2000

The purpose of this study was to investigate encouragement experience on breastfeeding of health professionals, and the support in their hospitals on breastfeeding. A questionnaire on breastfeeding was administered to the obstetricians, pediatricians and nurses at the department of pediatrics or obstetrics of university hospital and private hospital in Seoul and Choong-Chung Province in South Korea. Total numbers of study subjects were 346 (pediatrician 67, obstetrician 41, nurse 238). Data was statistically analyzed according to descriptive statistics, Chi-square test and multivariant analysis. The results were as follows : 1. Most of the respondents (93.6%) had a knowledge regarding breastfeeding which had more advantage than formula-feeding. But their experience to educate the mother about breastfeeding was very limited (34.8%). The major problems were insufficient concern of healthcare professionals, no trained personnel's and lack of education programs on breastfeeding. 2. Most of the respondents (82%) had learned breastfeeding management in class at the university. But 2/3 of them had not been educated on breastfeeding management after graduation. 3. More than half of the hospitals had no breastfeeding education programs. And they recommended the formula-feeding to the mothers. 4. Seventy percent of the respondents recognized that breastfeeding information offered to the mothers in their hospitals might help to increase the rate of breastfeeding. But only 40% of hospital had offered breastfeeding information using pamphlets or brochures. In our study, a majority of respondents had not been educated on breastfeeding after graduation. A personal experience in breastfeeding is known predictor of confidence in breastfeeding. Educational programs may have an effect to change the health professionals behavior. Therefore, it is necessary to assist health professionals in obtaining more knowledge about breastfeeding. Continuing education programs to health professionals should be offered by nation and regional organization.

• 대한지역사회영양학회지
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• 제22권3호
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• pp.238-247
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• 2017

Objectives: This study was conducted to investigate providers' perspectives on current challenges in implementing a program for prevention and management of childhood obesity and adoption of mobile phone as a potential solution of leveraging multimodal delivery and support in a school setting. Methods: The qualitative data were collected through face-to-face in-depth interviews with 23 elementary-school teachers, 6 pediatricians, and 6 dieticians from community health centers and analyzed using a qualitative research methodology. Results: Current challenges and potential solutions of obesity-prevention and -management program for obesity program for elementary school children were deduced as two themes each. Lack of tailored intervention due to limited recipient motivation, lack of individualized behavioral intervention, and different environmental conditions can be solvable by mobile technology-based personalized intervention which brings about interactive recipient participation, customized behavioral intervention, and ubiquitous accessibility. Lack of sustainable management due to stigmatization, limited interactions between program providers and inconsistent administrative support can be handled by multimodal support based on school setting using mobile platform providing education of health promoting behaviors toward larger scale and interactive networking between program participants, and minimizing administrative burden. Conclusions: Adoption of mobile-based health management program may overcome current limitations of child obesity program such as lack of tailored intervention and sustainable management via personalized intervention and multimodal supports although some concerns such as increased screen time need to be carefully considered in a further study.

• Clinical and Experimental Pediatrics
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• 제57권11호
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• pp.484-488
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• 2014

Purpose: Chronic upper airway obstruction causes hypoxemic pulmonary vasoconstriction, which may lead to right ventricle (RV) dysfunction. Adenotonsillar hypertrophy (ATH) is the most common cause of upper airway obstruction in children. Therefore, we aimed to evaluate RV function in children with ATH. Methods: Twenty-one children (male/female, 15/6; mean age, $92.3{\pm}39.0$ months; age range, 4-15 years) with ATH and 21 healthy age- and gender-matched controls were included in this study. Tricuspid annular plane systolic excursion and RV myocardial performance index were measured by transthoracic echocardiography. Further, the plasma level of N-terminal of probrain natriuretic peptide (NT-proBNP), an indicator of RV function, was determined. Results: The snoring-tiredness during daytime-observed apnea-high blood pressure (STOP) questionnaire was completed by the patients' parents, and loud snoring was noted in the ATH group. The plasma NT-proBNP level was significantly higher in the ATH group than that in the controls ($66.44{\pm}37.63pg/mL$ vs. $27.85{\pm}8.89pg/mL$, P=0.001). The echocardiographic parameters were not significantly different between the groups. Conclusion: We were unable to confirm the significance of echocardiographic evidence of RV dysfunction in the management of children with ATH. However, the plasma NT-proBNP level was significantly higher in the ATH group than that in the control, suggesting that chronic airway obstruction in children may carry a risk for cardiac dysfunction. Therefore, more patients should be examined using transthoracic echocardiography. In addition, pediatricians and otolaryngologists should consider cardiologic aspects during the management of children with severe ATH.

• Archives of Plastic Surgery
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• 제43권2호
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• pp.153-159
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• 2016

Background The prenatal ultrasound detection of cleft lip with or without cleft palate (CL/P) and its continuous management in the prenatal, perinatal, and postnatal periods using a multidisciplinary team approach can be beneficial for parents and their infants. In this report, we share our experiences with the prenatal detection of CL/P and the multidisciplinary management of this malformation in our institution's Congenital Disease Center. Methods The multidisciplinary team of the Congenital Disease Center for mothers of children with CL/P is composed of obstetricians, plastic and reconstructive surgeons, pediatricians, and psychiatrists. A total of 11 fetuses were diagnosed with CL/P from March 2009 to December 2013, and their mothers were referred to the Congenital Disease Center of our hospital. When CL/P is suspected in the prenatal ultrasound screening examination, the pregnant woman is referred to our center for further evaluation. Results The abortion rate was 28% (3/11). The concordance rate of the sonographic and final diagnoses was 100%. Ten women (91%) reported that they were satisfied with the multidisciplinary management in our center. Conclusions Although a child with a birth defect is unlikely to be received well, the women whose fetuses were diagnosed with CL/P on prenatal ultrasound screening and who underwent multidisciplinary team management were more likely to decide to continue their pregnancy.

• Clinical and Experimental Pediatrics
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• 제53권6호
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• pp.701-704
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• 2010

Purpose: Dengue fever occurs in many popular tourist destinations and is increasingly imported by returning travelers in Korea. Since Korea is not an endemic country for dengue fever, pediatricians do not usually suspect dengue fever in febrile children even with typical presentation and exposure history. This study was performed to describe the international travel experiences and dengue fever in Korean children. Methods: Travel histories were collected based on questionnaires completed by all patients' guardians who visited the pediatric infectious diseases clinic at Samsung Medical Center from January 2008 to December 2008. For patients who were suspected of dengue fever, a serological test was performed. Results: Five hundred and seventeen children visited the pediatric infectious diseases clinic for the first time during this period. About 30% of patients who responded to the questionnaire (101/339) had experienced international travel within the last 2 years. Four patients were diagnosed with dengue fever by serological test. Conclusion: Increasing numbers of Korean children visit dengue endemic areas and they may return home with dengue fever. Dengue fever should be suspected in patients who have a travel history to endemic areas.

• Clinical and Experimental Pediatrics
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• 제58권4호
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• pp.154-157
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• 2015

Plastibell is one of the three most common devices used for neonatal circumcision in the United States, with a complication rate as low as 1.8%. The Plastibell circumcision device is commonly used under local anesthesia for religious circumcision in male neonates, because of cosmetic reasons and ease of use. Occasionally, instead of falling off, the device may get buried under the skin along the shaft of the penis, thereby obstructing the normal flow of urine. Furthermore, the foreskin of neonates is highly vascularized, and hence, hemorrhage and infection are possible when the skin is cut. Necrosis of penile skin, followed by urethral obstruction and renal failure, is a serious surgical mishap requiring immediate corrective surgery and medical attention. We report a case of fulminant urosepsis, acute renal failure, and pyelonephritis in a 4-day-old male neonate secondary to impaction of a Plastibell circumcision device. Immediate medical management was initiated with fluid resuscitation and mechanical ventilation; thereby correcting life threatening complications. Pediatricians and Emergency Department physicians should be cognizant of the complications from Plastibell circumcision device in order to institute appropriate and timely management in neonates.