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· Orphan disease is a rare disease, primarily affecting newborn and children. Vast majority of orphan diseases has genetic background. · Orphan disease is individually rare. But as a whole, it is not rare, becoming a great socioeconomic burden. · The diagnosis of rare genetic disease has been problematic, but recent progress of genome analysis technologies makes it faster and more precise. · There are many unmet needs as to the curative treatment. However, the number of treatable rare diseases is growingly increasing owing to the development of biotechnology. · Most orphan drugs are extremely expensive because of numer ous hurdles during the process of drug development as well as small number of patients. |
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The drug allergy “label” may have a lifetime of consequences for a child. Many children with alleged drug allergies are proven to be tolerant to the culprit medication when challenged. The field of drug hypersensitivity is a recently evolving field of research, but studies on its epidemiology and diagnostic tools are lacking in children. Clinical history is significant in the... |
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A structured review study of drug interventions on sleep disorders in patients with autism spectrum disorders (ASD) has not been published to date. This systematic review aimed to investigate drug interventions for the treatment of sleep disorders in children with ASD. The Web of Science, PubMed, and Scopus databases were searched until March 2019. Study quality was assessed using the... |
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Although Mycoplasma pneumoniae pneumonia (MPP) has been generally susceptible to macrolides, the emergence of macrolide-resistant MPP (MRMP) has made its treatment challenging. MRMP rapidly spread after the 2000s, especially in East Asia. MRMP is more common in children and adolescents than in adults, which is likely related to the frequent use of macrolides for treating M. pneumoniae infections in children.... |
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Although rare, antihistamines can cause adverse effects, including drug-induced eruptions or anaphylaxis. A 4-year-old child visited the pediatric department of a hospital for skin eruptions after administration of antihistamines, (e.g., ucerax [hydroxyzine] or leptizine [levocetirizine]), for cholinergic rashes; he did not have pruritus. Skin prick, intradermal, and drug provocation tests were performed to determine the relationship between the antihistamines and... |
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Purpose: Macrolide-resistant Mycoplasma pneumoniae pneumonia (MPP) is characterized by prolonged fever and radiological progression despite macrolide treatment. Few studies have examined serum procalcitonin (PCT) level in children with MPP. We aimed to investigate the association of acute inflammation markers including PCT with clinical parameters in children with MPP. Methods: A total of 147 children were recruited. The diagnosis of MPP... |
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Macrolide resistance rate of Among 122... |
Toxic epidermal necrolysis is an unpredictable and severe adverse drug reaction. In toxic epidermal necrolysis, epidermal damage appears to result from keratinocyte apoptosis. This condition is triggered by many factors, principally drugs such as antiepileptic medications, antibiotics (particularly sulfonamide), nonsteroidal anti-inflammatory drugs, allopurinol, and nevirapine. Lamotrigine has been reported potentially cause serious cutaneous reactions, and concomitant use of valproic acid... |
Pediatric infection with |
To identify the frequency of bacterial isolates in early-onset neonatal sepsis (EONS) and their antimicrobial resistance pattern. A retrospective study of EONS was conducted at the Beni Suef University Hospital from September 2008 to September 2012. A case of EONS was defined as an infant who had clinical signs of infection or who was born to a mother with risk factors... |
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Acute disseminated encephalomyelitis (ADEM) is an inflammatory demyelinating disease of the central nervous system that typically follows an infection or vaccination and has a favorable long-term prognosis. We describe the first reported case of ADEM after vaccination against novel influenza A (H1N1). A previously healthy 34-month-old boy who developed ADEM presented with a seizure and left-sided weakness 5 days after... |
There are very few reports of adverse drug reactions (ADR) and almost no study of drug provocation test (DPT) in Korean children. We aimed to assess the role of DPT in children with unpredictable ADRs, and compare the causative drugs and clinical characteristics between detailed history of ADRs and result of DPTs. We included 16 children who were experienced ADRs referred... |
This study aimed to determine the optimal initial vancomycin dose to achieve appropriate trough levels in pediatric patients. We analyzed clinical data for 309 children treated with intravenous vancomycin between 2004 and 2009 at 2 different hospitals in South Korea. The patients were 1-16 years old and exhibited normal renal function. Patient data, including reason for treatment and initial dosing regimen,... |
The systematic approach to pharmacologic treatment is typically to begin with the safest, simplest, and most conservative measures. It has been realized that the more rapidly inflammation is under control, the less likely it is that there will be permanent sequelae. Nonsteroidal anti-inflammatory drugs (NSAIDs) are the mainstay of initial treatment for inflammation. In addition, the slow-acting antirheumatic drugs (SAARDs)... |
Purpose : Electroencephalography (EEG) findings can play a critical role in a variety of decisions, including initiation and withdrawal of antiepileptic drugs (AEDs) therapy. Interictal epileptiform discharges (IEDs) are predictor of recurrent seizures. We investigated IEDs in EEG after AED therapy and related factors in epileptic children. Methods : The subjects were 257 children [151 males and 106 females; age,... |
Drug-resistant tuberculosis in children has important implications for both the patients and tuberculosis control programs. In Korea, among all new patients, the isoniazid resistance rate was 9.9% and multidrug-resistant tuberculosis rate was 2.7% in 2004 (in patients aged 10-19 yr, the multidrug-resistant tuberculosis rate reached 2.1%). Tuberculosis in pediatric patients is difficult to diagnose because many children have nonspecific clinical... |
Tuberculosis continues to cause an unacceptably high toll of disease and death among children worldwide. Whereas intense scientific and clinical research efforts into novel diagnostic, therapeutic, and preventive interventions have focused on tuberculosis in adults, childhood tuberculosis has been relatively neglected. However, children are particularly vulnerable to severe disease and death following infection, and those with latent infection become the... |
Purpose : The rate of drug-resistant tuberculosis (DR-TB) in children is an indicator of the effectiveness of TB control programs in the community. This study aimed to assess the prevalence of DR-TB in children and evaluate TB management. Methods : Between January 1999 and July 2007, drug susceptibility tests for anti-TB drugs were employed for patients aged less than 19... |
Drug hypersensitivity syndrome (DHS) has rarely been reported in association with vancomycin treatment. Here, we describe an 11-year-old girl who developed fever and a maculopapular rash on day 18 of intravenous vancomycin for treatment of infective endocarditis. The patient presented with fever, a maculopapular skin rash, hepatitis, and acute renal failure caused by vancomycin-induced DHS. The symptoms resolved in less... |
Purpose : This study was conducted to survey the preliminary data on risk behaviors and to identify the factors that prevent risk-behaviors in late adolescence. Methods : Freshmen(n=1,297) beginning the first semester in Korea University, Seoul, Korea completed self-administered risk behavior questionnaires, comprising 5 domains : demographics, smoking, drinking, drug abuse and sexual behavior. Results : The rate of smoking experience was... |
Purpose : The purpose of this study was to evaluate the types of lymphadenitis after BCG vaccination and the effect of local rifampicin instillation on the treatment of suppurative BCG lymphadenitis. Methods : A total of 32 otherwise healthy infants with suppurative BCG lymphadenitis, who visited the Department of Pediatrics of Chonbuk National University Hospital, from March 2002 through June 2004,... |
Epilepsy is one of the most common and disabling neurologic disorders in childhood. The primary goal of epilepsy treatment is to choose the treatment modality that provides the best chance of improving the patient's quality of life. In addition to classic antiepileptic drugs, newly developed antiepileptic drugs ketogenic diet, epilepsy surgery, and vagal nerve stimulation have improved the ability to... |
Purpose : There has been no exact criteria established for when to discontinue antiepileptic drugs (AEDs) in epileptic children who had been well controlled for a long period. This study was undertaken to evaluate the recurrence rate and predictive risk factors of relapse after discontinuation of AEDs in epileptic children who had been seizure-free. Methods : We retrospectively studied 294 children... |
Purpose : Benign childhood epilepsy with centrotemporal spikes(BECT) is characterized by an excellent prognosis. Therefore, the necessity for the use of antiepileptic drugs is controversial. The object of this study is to know about the long-term follow-up of BECT, comparing daily treatment with antiepileptic drug(AED) versus no medication. Methods : We retrospectively studied 56 cases of BECTs, examined at Pediatric Neurology... |
Purpose : There has been no exact answer to the question of when to discontinue antiepileptic drugs(AEDs) in children with well-controlled epilepsy for a long period. This study is about the risk factors of relapse after withdrawal of AEDs in seizure(Sz)-free patients to show a guideline for discontinuation of AEDs. Methods : One hundred and sixty-nine children were diagnosed as epileptic... |
Purpose : To describe clinical features of cyclic vomiting syndrome(CVS), managements during episodes, prophylactic drugs as long term therapy and to investigate the disease course and prognostic factors of CVS. Methods : Thirty two children who fulfilled the diagnostic criteria of CVS and who presented to Seoul National University Children's Hospital from March 1989 to December 2000, were included. Data were... |
Purpose : Streptococcus pneumoniae is a normal flora and common pathogen of the upper respiratory tract. S. pneumoniae infections are estimated to cause not only localized infection such as pneumonia, and otitis media, but also systemic infections, for example meningitis, sepsis, and so on. Recently, the resistance of S. pneumoniae to penicillin and multidrug has been rapidly increasing in many... |
Fixed drug eruption normally presents as single or multiple sharply demarcated erythematous lesions that recur at the same location upon re-exposure to the offending agent. When the acute inflammation subsides, it often leaves residual hyperpigmentation. Commonly implicated substances are phenolphthalein, barbiturates, sulfonamides, tetracyclines, salicylates, gold and pyrazolone derivatives. Despite frequent use of acetaminophen, drug eruptions, especially fixed drug eruptions, due... |
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