• Clinical and Experimental Pediatrics
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• v.59 no.6
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• pp.276-279
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• 2016

Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. SLS was confirmed by a molecular genetics study that revealed a deletion mutation in the ALDH3A2 gene. An ALDH3A2 gene mutation results in dysfunction of the microsomal enzyme fatty aldehyde dehydrogenase and impaired metabolism and accumulation of leukotriene B4, which is a key molecule and a pro-inflammatory mediator in developing allergic diseases, especially asthma. An increased level of leukotriene B4 has been reported in SLS patients. As far as we are aware, this is the first report of SLS associated with asthma and recurrent pneumonia. In conclusion, pediatricians should be aware of and evaluate patients with SLS for possible associated asthma and allergic disorders.

• Clinical and Experimental Pediatrics
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• v.54 no.5
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• pp.183-191
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• 2011

Although antenatal diagnostic technique has considerably improved, precise detection and proper management of the neonate with congenital heart disease (CHD) is always a great concern to pediatricians. Congenital cardiac malformations vary from benign to serious conditions such as complete transposition of the great arteries (TGA), critical pulmonary and aortic valvular stenosis/atresia, hypoplastic left heart syndrome (HLHS), obstructed total anomalous pulmonary venous return (TAPVR), which the baby needs immediate diagnosis and management for survival. Unfortunately, these life threatening heart diseases may not have obvious evidence early after birth, most of the clinical and physical findings are nonspecific and vague, which makes the diagnosis difficult. High index of suspicion and astute acumen are essential to decision making. When patent ductus arteriosus (PDA) is opened Widely, many serious malformations may not be noticed easily in the early life, but would progress as severe acidosis/shock/cyanosis or even death as PDA constricts after few hours to days. Ductus dependent congenital cardiac lesions can be divided into the ductus dependent systemic or pulmonary disease, but physiologically quite different from each other and treatment strategy has to be tailored to the clinical status and cardiac malformations. Inevitably early presentation is often regarded as a medical emergency. Differential diagnosis with inborn error metabolic disorders, neonatal sepsis, persistent pulmonary hypertension of the newborn (PPHN) and other pulmonary conditions are necessary. Urgent identification of the newborn at such high risk requires timely referral to a pediatric cardiologist, and timely intervention is the key in reducing mortality and morbidity. This following review deals with the clinical presentations, investigative modalities and approach to management of congenital cardiac malformations presenting in the early life.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.3 no.2
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• pp.188-194
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• 2000

Achalasia is very uncommon in children, and cases accompanied with alacrima and adrenal insufficiency is even more uncommon. When these three disorders are seen altogether, it is called triple A syndrome. It is inherited in an autosomal recessive manner and has potentially life-threatening sequelae. So, pediatricians should always consider the possibility of triple A syndrome when seeing children with achalasia. Neurological abnormalities such as autonomic neuropathy, peripheral neuropathy, sensory impairment and mental retardation occasionally accompany. We report a 2-year-old girl who presented with repeated vomiting, short stature and alacrima. Diagnosis of achalasia was made after perfoming esophagogram and endoscopy and was confirmed with esophageal manometry. After pneumatic dilatation, she became asymptomatic.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.21 no.3
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• pp.214-217
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• 2018

Inflammatory bowel disease (IBD) is a well-recognized risk factor for thrombotic events in adults but data on children are scarce. In the great majority of adult patients, thrombotic events are usually deep vein thrombosis and pulmonary embolism. Other sites such as jugular veins are extremely rare. We present a case of Lemierre syndrome in an adolescent girl with active ulcerative colitis and discuss possible risk factors. This is the first reported case of severe Lemierre syndrome with thrombus extension to cranial veins in a patient with ulcerative colitis. Early recognition of Lemierre syndrome in patients who present with rapidly worsening symptoms of neck pain, fever and signs of pharyngitis is imperative because it increases a chance of favorable prognosis. It is important for pediatricians treating IBD patients not to underestimate possible thrombotic events in children with IBD. Recognition of additional risk factors is crucial for prompt diagnosis and adequate treatment.

• Clinical and Experimental Pediatrics
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• v.51 no.8
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• pp.792-796
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• 2008

Bone pain in a child could be associated with cancer as an initial manifestation of the disease. The childhood malignancies that frequently present bone pain are leukemia, neuroblastoma, and primary bone tumors such as osteosarcoma and Ewing sarcoma. Persistent bone or joint pain associated with swelling, mass, or limitation of motion implies underlying serious causes. Systemic manifestations such as lymphadenopathy, hepatosplenomegaly, fever, fatigue, night sweat, and laboratory abnormalities are also suggestive of malignancy. The index of suspicion tends to be low since less than 1% of children who complain of bone pain are diagnosed as cancer. Nonetheless, pediatricians should be alert to the possibilities of cancer since early detection and prompt treatment might reduce mortality.

• Clinical and Experimental Pediatrics
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• v.56 no.5
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• pp.196-201
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• 2013

Fluoroquinolones are an important class of antibiotics that are widely used in adult patients because of their broad spectrum of activity, good tissue penetration, and oral bioavailability. However, fluoroquinolone use in children is limited because juvenile animals developed arthropathy in previous experiments on fluoroquinolone use. Indications for fluoroquinolone use in patients younger than 18 years, as stated by the U.S. Food and Drug Administration, include treatment of complicated urinary tract infections and postexposure treatment for inhalation anthrax. In Korea, the systemic use of fluoroquinolones has not been approved in children younger than 18 years. Although concerns remain regarding the adverse musculoskeletal effects of fluoroquinolones in children, their use in the pediatric population has increased in many circumstances. While pediatricians should be aware of the indications and adverse effects of fluoroquinolones, recent studies have shown that the risk for musculoskeletal complications in children did not significantly increase following fluoroquinolone treatment. In addition, fluoroquinolones may be particularly helpful in treating multidrug-resistant infections that have not responded to standard antibiotic therapy in immunocompromised patients. In the present article, we provide an updated review on the safety and current recommendations for using fluoroquinolones in children.

• Clinical and Experimental Pediatrics
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• v.50 no.4
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• pp.323-327
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• 2007

Although most clinicians now agree that sinusitis can afflict children of all ages, appropriate diagnosis remain controversial. Sinusitis is one of the most challenging diagnoses for a clinician, because there is a lack of validated diagnostic criteria for acute rhinosinusitis. Symptoms generally include nasal congestion, purulent nasal discharge, and cough .The physical examination is often unsuccessful in confirming the diagnosis. If purulent discharge is seen oozing from the middle meatus, the diagnosis of acute rhinosinusitis is almost certain. Purulent drainage may also be seen in the posterior pharynx and accompanied by halitosis. Absence of light by transillumination may indicate acute rhinosinusitis. Imaging studies are not necessary to confirm the diagnosis of sinusitis in children younger than 6 years and should be used sparingly in children older than 6 years. Sinus radiographs still have several advantages over CT scanning including the relatively low cost and the ability to obtain films without the use of sedation in younger children. Positive findings of sinusitis on plain film include air-fluid levels, complete opacification, or mucosal thickening greater then 4 mm. The CT scan however, is significantly more sensitive then plain films in detecting these abnormalities. Although recovery of bacteria from a sinus aspiration is considered reference standard for diagnosis in pediatric rhinosinusitis, its routine used by pediatricians is not practical and therefore is not recommended.

• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.286-293
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• 2010

Peak bone mass is established predominately during childhood and adolescence. It is an important determinant of future resistance to osteoporosis and fractures to gain bone mass during growth. The issue of low bone density in children and adolescents has recently attracted much attention and the use of pediatric dual-energy X-ray absorptiometry (DXA) is increasing. The process of interpretation of pediatric DXA results is different from that of adults because normal bone mineral density (BMD) of children varies by age, body size, pubertal stage, skeletal maturation, sex, and ethnicity. Thus, an appropriate normal BMD Z-score reference value with Z-score should be used to detect and manage low BMD. Z-scores below -2.0 are generally considered a low BMD to pediatrician even though diagnoses of osteoporosis in children and adolescents are usually only made in the presence of at least one fragility fracture. This article will review the basic knowledge and practical guidelines on pediatric DXA based on the International Society for Clinical Densitometry (ISCD) Pediatric Official Positions. Also discussed are the characteristics of normal Korean children and adolescents with respect to BMD development. The objective of this review is to help pediatricians to understand when DXA will be useful and how to interpret pediatric DXA reports in the clinical practice for management of children with the potential to develop osteoporosis in adulthood.

• Korean Journal of Hospice Care
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• v.6 no.2
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• pp.1-9
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• 2006

In this thesis, Chapter I Introduction suggested the necessity of this research and defined related terms, and Chapter II defined hospice for children and examined the symptoms of pediatric cancers as well as the general characteristics of pediatric cancer patients. In particular, we surveyed the physical condition, psychological and emotional condition, financial condition, environmental aspect, educational aspect and spiritual aspect of pediatric cancer patients’ families, investigated pediatric cancer patients’ parents and siblings with regard to their understanding of the pediatric cancer patients’ death, and lastly considered spiritual care. Chapter III presented summaries and conclusions. In their developmental stage, pediatric cancer patients lack abilities to express themselves and are highly dependent on their parents, so parents who take care of cancer children have to make hard decisions and cancer children’s families are heavily burdened by the situation of preparing their children’s death and sending them away while denying their death, and for this reason they need help from specialists. That is, for pediatric cancer patients, we need highly experienced pediatricians or nurses skilful in managing young terminal patients as well as hospice counseling and family counselors for consulting on family crises. In particular, there is a keen need of child life support specialists. In addition, clergymen’s help is critical for spiritual care to ease the fear and terror of the unknown world, fear of death, etc. Moreover, in order to prevent cancer children from failing to adjust themselves to school life or peer relation after recovery, hospice service should provide cancer children with opportunities to learn school curriculums and associate with friends.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.6
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• pp.613-618
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• 2019

Juvenile polyps are the most common types of polyps in children, and patients usually present with lower gastrointestinal (GI) bleeding as the predominant symptom. These lesions, which are referred to as hamartomas, usually measure approximately 2 cm in size and are benign tumors located mainly in the rectum and sigmoid colon. The most common symptom of a juvenile polyp is mild intermittent rectal bleeding. It is rare for anemic patients because the amount of blood loss is small and often not diagnosed immediately. We present the case of a 6-year-old girl with a juvenile polyp in the distal transverse colon, who developed hypovolemic shock due to massive lower GI bleeding. Pediatricians must perform colonoscopy for thorough evaluation of polyps, because their location and size can vary and they can cause massive bleeding.