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Despite the availability of molecular methods, identification of the causative virus in children with acute respiratory infections (ARIs) has proven difficult as the same viruses are often detected in asymptomatic children. Multiplex reverse transcription polymerase chain reaction assays were performed to detect 15 common respiratory viruses in children under 15 years of age who were hospitalized with ARI between January 2013... |
Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center. A retrospective analysis was conducted for a total of 13 patients with Kabuki... |
The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently... |
Dapsone (4,4'-diaminodiphenylsulfone, DDS), a potent anti-inflammatory agent, is widely used in the treatment of leprosy and several chronic inflammatory skin diseases. Dapsone therapy rarely results in development of dapsone hypersensitivity syndrome, which is characterized by fever, hepatitis, generalized exfoliative dermatitis, and lymphadenopathy. Here, we describe the case of an 11-year-old Korean boy who initially presented with high fever, a morbilliform... |
Methods for quick and reliable detection of Nasopharyngeal (NP) secretions were obtained from 842 pediatric patients admitted with lower respiratory infections at Severance Children's Hospital... |
Although Korean population has been growing steadily during the past four decades, the nation is rapidly becoming an aging society because of its declining birth rate combined with an increasing life expectancy. In addition, Korea has one of the lowest fertility rates in the world due to fewer married couples, advanced maternal age, and falling birth rate. The prevalence of... |
Acute disseminated encephalomyelitis (ADEM) is a demyelinating disease of the central nervous system (CNS) that typically presents as a monophasic disorder associated with multifocal neurologic symptoms and encephalopathy. ADEM is considered an autoimmune disorder that is triggered by an environmental stimulus in genetically susceptible individuals. The diagnosis of ADEM is based on clinical and radiological features. Most children with ADEM... |
Pulmonary cryptococcosis is rare in immunocompetent subjects. Here, we present the case of a 16-year-old boy who was referred to our pediatric department for the management of multiple consolidations detected on chest radiography, which was routinely performed when the patient was being evaluated for an ankle fracture. Fine needle aspiration biopsy was performed, and the definitive diagnosis was established as... |
The recent trends of multiple births (MBs) conceived by assisted reproductive technology (ART) in Korea were analyzed as well as the relationship with maternal age, especially advanced maternal age. Data were obtained from the Korean Statistical Information Service and annual ART reports from the ART committee of the Korean Society of Obstetrics and Gynecology. MBs increased from the early 1990s; there was... |
Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with... |
Aminoglycosides are frequently used antibiotics in children. The multiple daily dosing (MDD) in infants and children is twice or three times daily depending on age. Recent studies in adults have shown that once daily dosing (ODD) maximizes the bactericidal activity and might minimize the toxicity of antibiotics. So, I reviewed many studies about efficacy, toxicity and cost effectiveness of ODD... |
Multiple sclerosis (MS) is a demyelinating disorder that affects discrete areas of the CNS, including the optic nerves, in a quite variable relapsing-remitting fashion over a prolonged period of time. Although MS is usually considered to be a disease that affects peoples in early to middle adulthood, children do develop multiple sclerosis. The frequency of MS onset before the age... |
Purpose : In the case of serious respiratory distress syndrome(RDS) or relapse of clinical appearances after single treatment, we obtained more effective results with multiple-dose surfactant replacement therapy. We carried out this investigation for comparing and observing clinical progress between single-dose(group S) and multiple-dose(group M) pulmonary surfactant treatment group of neonatal RDS. Methods : We investigated 48 neonates who were... |
Influenza-associated encephalopathy is regarded as one of the major neurologic disease entities along with those of Reye syndrome, acute necrotizing encephalopathy, and myelitis which are known to be related to influenza virus, mostly type A. And it is being actively researched in Japan as it has caused a tremendous increase in the number of deaths from 1997 to 2002, but... |
Ring chromosome 21 causes a multitude of phenotypes, ranging from severe abnormalities to normal. The proposed mechanism of ring formation, breakage of both short and long arms of a chromosome with subsequent end to end fusion, remains unproven. We encountered a 4-year-old boy who presented developmental delay, microcephaly, micrognathia, hypertelorism, low-set ears, mild optic nerve hypoplasia, cleft lip and palate,... |
This is a case report of multiple coil embolization for the diffuse pulmonary arteriovenous malformations( PAVM). PAVMs are direct communications between pulmonary arteries and pulmonary veins, resulting in an anatomic right-to-left shunt that may cause paradoxical embolization to may occur, resulting in neurologic complications such as stroke or cerebral abscess. The treatment of choice for solitary PAVMs was limited to surgical resection or ligation... |
Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 100 cases have been reported since. The phenotypic spectrum of this syndrome is characterized by craniofacial malformation, facial deformity, skeletal and dermatoglyphic anomalies with variable degrees of mental retardation. We experienced a case of partial trisomy 9 syndrome in a 15-month-old female who had multiple congenital... |
Multiple sclerosis is a chronic inflammatory demyelinating disease of the central nervous system and its lesions are multiple in time as well as space. We experienced a case of a 14-year-old-girl with dysphagia, paresthesia and headache. Brain MRI scans demonstrated high signal intensities on T2-weighted images at the medulla and upper cervical cord. Acute disseminated encephalomyelitis was diagnosed and methylprednisolone pulse... |
Since Feingold and his collegues first describes the trisomy 9 syndrome in 1973, approximately 30 patients with trisomy of the chromsome 9 have been described. Trisomy 9 has been reported as either partial or complete. Complete trisomy is rare and incompatible with a a long life. Before this report, this syndrome has not been reported in Korea. A neonate was diagniosed... |
We have experienced a case of dup(3q) syndrome in the neonate who had a multiple congenital anomalies of hypertrichosis, hypertelorism, upslanting palpaberal fissures, anteverted nostrils, long philtrum, micrognathia, downturned corners of the mouth, highly arched palate, short, webbed neck, clinodactyly, rocker-bottom feet, dermal sinus. Cytogenetic studies showed a duplication 3q21→qter regions. Chromosome study of relatives is extremely important for counseling because... |
Narcolepsy is a serious, lifelong, disabling disorder characterized by a tetrad of symptoms including excessive daytime sleepiness, cataplexy, hypnagogic hallucination, and sleep paralysis. We experienced a 14 year old boy with a narcolepsy diagnosed by typical clinical symptoms above mentioned and multiple sleep latency test. A brief review of the related literatures was also made. |
3p partial trisomy is a rare chromosomal anomaly. We experienced a case of 3p partial trisomy in a male neonate. It was diagnosed by clinical and chromosoaml study. He had multiple anomalies such as brachycephaly, wide open fontanelle, square face, hypertelorism, mongoloid palpebral fissure, micrognathia, low set malformed ear, bilateral cleft lip and palate, double outlet right ventricle, atrial septal defect,... |
We report a case of ARC syndrome with arthrogryposis multiplex congenita, renal tubular insufficiency and cholestasis. The Patient presented in the early neonatal period with micrognathia, low set ears, high arched palate, multiple joint contracture, conjugated hyperbilirubinemia and failure to thrive. He died at the age of 1 month despite medical therapy. Findings of renal tubular insufficiency included persistent renal... |
Arthrogryposis multiplex congenita is a congenital syndrome characterized by extreme stiffness and contracture of multiple joints and associated hypoplasia or absence of development of muscle, bone, and soft tissues; and refers to a heterogeneous group of congenital disorders of unknown but probably multiple etiologies. We present a 50 days old male baby who has had mmultiple fixed contractures of joints... |
Arthrogryposis multiplex congenita is a rare congenital disorder characterized by multiple fixed-joint deformities of the upper and lower extremities. Most cases are sporadic, although rare cases of familial recurrence are reported worldwide. Recently, we experienced 2 cases of arthrogryposis multiplex congenita in a family (a brother and a sister). They were born with micrognathia, low set ears, broad and short... |
We experienced mutiple brain abscess in two neonates. Diagnosis was made brain CT scan, which revealed multiple ring-like enhancing leason in both frontoparietal and left posterior parietal cerebral parenchyme. Therapy was consisted of systemic antibiotic treatment and CSF V-P shunt operation due to complicated hydrocephalus. One neonate was died and the other neonate has been followed up due to... |
Juvenile polyps are common and cause painless hematochezia in preschool and school-aged children. Juvenile polyps of the colon are usually solitary and considered to be inflammatory of hamatomatous in nature without malignant potential. Multiple juvenile polyposis is characterized by large numbers withch is spread to the colon or throughout the gastrointestinal tract. We experienced a nonfamilial multiple juvenile polyposis in a... |
The simple definition of arthrogryposis is "a syndrome of persistent joint contractures present at birth" We have experienced a 4 days-old male baby who had multiple joint contractures with muslce atrophy. Diagnosis was arthrogryposis multiplex congenita and made by clinical finding. A brief review of the literature was made. |
In order to find out the incidences of muscular ventricular septal defect and multiple ventricular septal defects in cases with isolated ventricular septal defect, tetralogy of Fallot, complete endocar- dial cushion defect, complete transposition of the great arteries, corrected transposition of the great arteries and double outlet right ventricle, a retrospective analysis of 620 left ventriculograms were performed. The surgical and echocardiographic findings were... |
Among the total of 17,991 newborns delivered at Hanyang University Howpital from January 1980 to December 1989, a clinical study was performed on 277 twin pregnancies. The results of the study were as follows: 1) The incidence of twins was 1:64.9. 2) The average male-female sex ratio of twins was 1:1.1, total same sex pairs rate was 79.4% (male-male & female-female) and different sex rate was 20.6%. 3) The... |
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