PURPOSE: Fever is one of the most common symptoms in children. In previous studies, infectious disease was the most common cause of pediatric fever of unknown origin (FUO). The aim of this study is to investigate the etiology, clinical characteristics and prognosis of pediatric FUO in 21 century with more diagnostics available and to analyze the factors for certain disease categories. METHODS: Among the children under 18 years old who were hospitalized at Samsung Medical Center from January 2000 to December 2014, the patients who met the criteria including fever of ≥38.0℃ for longer than ≥14 days and failure to reach a diagnosis after one week of investigations were included. RESULTS: Total 100 patients were identified. Confirmed diagnosis was achieved in 57 patients (57%). Among them, infectious diseases (n=19, 19%) were most common, followed by connective tissue diseases (n=15, 15%), necrotizing lymphadenitis (n=8, 8%), and malignancies (n=7, 7%). Children with fever duration over 28 days had a trend for higher frequency of connective tissue diseases (28.3%) except undiagnosed etiology. The symptoms such as arthritis, lymph node enlargement and only fever without other symptoms were significantly related with connective tissue diseases, necrotizing lymphadenitis and undiagnosed respectively (P<0.001). Ninety-two patients have become afebrile at discharge and 1 patient died (1%). CONCLUSION: Almost half of our patients were left without diagnosis. Although it has been known that infectious disease was most common cause of pediatric FUO in the past, undiagnosed portion of FUO have now increased due to development of diagnostic techniques for infectious diseases.
Arthritis ; Child* ; Communicable Diseases ; Connective Tissue Diseases ; Diagnosis ; Fever of Unknown Origin* ; Fever* ; Humans ; Lymph Nodes ; Lymphadenitis ; Prognosis

PURPOSE: Transcatheter device closure of patent ductus arteriosus (PDA) is challenging in early infancy. We evaluated PDA closure in infants less than 6 months old. METHODS: We performed a retrospective review of infants less than 6 months of age who underwent attempted transcatheter device closure in our institution since 2004. To compare clinical outcomes between age groups, infants aged 6–12 months in the same study period were reviewed. RESULTS: A total of 22 patients underwent transcatheter PDA closure during the study period. Patient mean age was 3.3±1.5 months, and weight was 5.7±1.3 kg. The duct diameter at the narrowest point was 3.0±0.8 mm as measured by angiography. The most common duct type was C in the Krichenko classification. Procedural success was achieved in 19 patients (86.3%). Major complications occurred in 5 patients (22.7%), including device embolization (n=1), acquired aortic coarctation (n=2), access-related vascular injury requiring surgery (n=1), and acute deterioration requiring intubation during the procedure (n=1). Two patients had minor complications (9.1%). Twenty-four infants aged 6–12 months received transcatheter device closure. The procedural success rate was 100%, and there were no major complications. The major complication rate was significantly higher in the group less than 6 months of age (P=0.045). There was a trend toward increased major complication and procedural failure rates in the younger age group (P < 0.01). CONCLUSION: A relatively higher incidence of major complications was observed in infants less than 6 months of age. The decision regarding treatment modality should be individualized.
Angiography ; Aortic Coarctation ; Classification ; Ductus Arteriosus* ; Ductus Arteriosus, Patent ; Heart Defects, Congenital ; Humans ; Incidence ; Infant* ; Intubation ; Retrospective Studies ; Vascular System Injuries

Background and Objectives: The directed differentiation of pluripotent stem cells into motor neurons is critical for the development of disease modelling and therapeutics to intervene degenerative motor neuron diseases. Cell surface receptor Cdo functions as a coreceptor for Sonic hedgehog (Shh) with Boc and Gas1 in the patterning of ventral spinal cord neurons including motor neurons. However, the discrete function of Cdo is not fully understood. Methods: and Results: In this study, we examined the role of Cdo in motor neuron generation by utilizing in vitro differentiation of Cdo＋/＋ and Cdo−/− embryonic stem cells (ESCs). In response to Shh, Cdo−/− ESCs exhibited impaired expression of motor neuron specification markers while dorsal interneuron specification markers were significantly increased, compared to Cdo＋/＋ ESCs. Reactivation of Shh signalling pathway with Smoothened (Smo) agonist (SAG) restored motor neuron specification in Cdo−/− ESCs. In addition, electrophysiological analysis revealed the immature electrical features of Cdo−/− ESCs-derived neurons which was restored by SAG. Conclusions Taken together, these data suggest that Cdo as a Shh coreceptor is required for the induction of motor neuron generation by fully activating Shh signalling pathway and provide additional insights into the biology of motor neuron development.

Noncirrhotic hyperammonemia as a cause of acute confusion remains diagnostic challenge. Deficiency of ornithine transcarbamylase (OTC) is the urea cycle disorder, inborn errors caused by a defect of the enzymes in the urea cycle, leading to an accumulation of ammonia mainly in newborn. There were very few cases, in which OTC deficiency result in hyperammonemia in adulthood. Herein, we report a young adult woman of hyperammonemic encephalopathy with OTC deficiency, diagnosed by high blood ammonia, glutamine and low plasma levels of citrulline. Next generation sequencing showed the c.386+5G>A mutation of the OTC gene.

Cytomegalovirus (CMV) infection is one of the most common congenital infections. The first case of discordant congenital CMV infection in twins occurred in Korea. A 31-year-old woman became pregnant with twins (dichorionic-diamniotic). An elective caesarean section was performed at 37 weeks. The first baby was male, weighing 2,410 g with an Apgar score of 8/9. The second baby was female, weighing 1,380 g with an Apgar score of 5/8. She had experienced intrauterine growth retardation, and presented with microcephaly, micrognathia, and joint stiffness. During the work-up for discordant twins, the second baby's serum test was positive for CMV immunoglobulin M. Her urine, blood, and cerebrospinal fluid (CSF) were CMV polymerase chain reaction positive. The first baby's CMV tests were negative. Ophthalmologic exam and audiometry performed on the second baby showed CMV retinitis and bilateral sensorineural hearing loss. She was treated with intravenous ganciclovir. Currently, she is bed-ridden and has significant developmental delay. Although the causes of discordant congenital CMV infection in twins are unclear, this case shows that discordant congenital CMV infection should be considered in twins with significant differences in intrauterine growth or clinical symptoms after birth.
Adult ; Apgar Score ; Audiometry ; Cerebrospinal Fluid ; Cesarean Section ; Cytomegalovirus Infections* ; Cytomegalovirus* ; Female ; Fetal Growth Retardation ; Ganciclovir ; Hearing Loss, Sensorineural ; Humans ; Immunoglobulin M ; Joints ; Korea ; Male ; Microcephaly ; Micrognathism ; Parturition ; Polymerase Chain Reaction ; Pregnancy ; Retinitis ; Twins*

Although fentanyl-induced cough is generally transient and benign, it can give rise to serious problems in patients to whom increasing intracranial, intraocular or intraabdominal pressures may create dangerous situations. This case demonstrates aspiration pneumonia as a complication, exhibiting severe cough induced by intravenous injection of fentanyl.
Cough ; Fentanyl ; Humans ; Injections, Intravenous ; Pneumonia ; Pneumonia, Aspiration ; Vomiting

Porphyrias are inherited metabolic disorders resulting from a specific enzyme defect in the heme biosynthetic pathway. Porphyrias are induced by various precipitants. Clinical features include abdominal pain, neurologic manifestations, autonomic neuropathy, and mental disturbance. Diagnosis may be delayed because of variable symptoms that mimic other diseases and because of the rarity of of porphyrias. Although most patients with known porphyria can complete anesthesia and surgery safely, undiagnosed porphyric patients are in danger of porphyric crisis due to inadvertent exposure to precipitating drugs and environment. We report a case of a patient who experienced delayed emergence with neurological disturbance after general anesthesia, ultimately diagnosed as acute intermittent porphyria.
Abdominal Pain ; Anesthesia ; Anesthesia, General* ; Biosynthetic Pathways ; Delayed Emergence from Anesthesia ; Diagnosis ; Guillain-Barre Syndrome ; Heme ; Humans ; Neurologic Manifestations* ; Porphyria, Acute Intermittent* ; Porphyrias ; Spine* ; Wernicke Encephalopathy

PURPOSE: This study was done to analyze how a death preparation education program have the effects on awareness of hospice palliative care and withdrawing life sustaining treatment in older adults. METHODS: This study employed a non-equivalent control group design among quasi-experimental designs. The experimental group was comprised with 35 adults and the control group with 40 adults. The death preparation program consisted of five two-hour sessions and was administered once a week for five straight weeks. Data were analyzed by descriptive statistics, t-test, chi2 test, Fisher's exact test, and ANCOVA using SPSS version 18.0. RESULTS: The mean age of the participants was 66.2 years. A significant difference between the experimental and control groups was observed in withdrawing life sustaining treatment (F=3.380, P=0.040). However, no significant difference was found in awareness of hospice palliative care (F=0.163, P=0.850). CONCLUSION: The study results indicate that death preparation training could positively affect people's awareness of withdrawing life sustaining treatment. More studies should be conducted to explore effects of death preparation education for all ages and help people better understand hospice palliative care.
Adult ; Education* ; Hospices* ; Humans ; Life Support Care ; Palliative Care*

Purpose: : This study aims to investigate the status of delirium intervention in adult intensive care unit (ICU) patients and the perception of this delirium by medical staff. Methods: : This retrospective study involves 185 patients, whereas, a descriptive survey is conducted with 197 medical staff members. Results: : The delirium group includes 100 patients (54.1%). The incidence of delirium is 64.9% in the medical ICU, 65.9% in the surgical ICU, 42.4% in the neuro ICU, and 46.5% in the cardiac ICU. The percentages of delirium prevention intervention differs between the two groups: 65.0% in the delirium group and 95.3% in the non-delirium group. The medical staff recognize that delirium is a common problem in the ICU (100.0%) and requires active medical intervention (98.5%). Conclusion : The length of stay at the ICU is longer in the delirium group than in the non-delirium group. It is necessary to standardize delirium prevention and treatment protocols to be equally applicable to all ICU patients.

Background: The nature and role of the mitochondrial stress response in adipose tissue in relation to obesity are not yet known. To determine whether the mitochondrial unfolded protein response (UPRmt) in adipose tissue is associated with obesity in humans and rodents. Methods: Visceral adipose tissue (VAT) was obtained from 48 normoglycemic women who underwent surgery. Expression levels of mRNA and proteins were measured for mitochondrial chaperones, intrinsic proteases, and components of electron-transport chains. Furthermore, we systematically analyzed metabolic phenotypes with a large panel of isogenic BXD inbred mouse strains and Genotype-Tissue Expression (GTEx) data. Results: In VAT, expression of mitochondrial chaperones and intrinsic proteases localized in inner and outer mitochondrial membranes was not associated with body mass index (BMI), except for the Lon protease homolog, mitochondrial, and the corresponding gene LONP1, which showed high-level expression in the VAT of overweight or obese individuals. Expression of LONP1 in VAT positively correlated with BMI. Analysis of the GTEx database revealed that elevation of LONP1 expression is associated with enhancement of genes involved in glucose and lipid metabolism in VAT. Mice with higher Lonp1 expression in adipose tissue had better systemic glucose metabolism than mice with lower Lonp1 expression. Conclusion Expression of mitochondrial LONP1, which is involved in the mitochondrial quality control stress response, was elevated in the VAT of obese individuals. In a bioinformatics analysis, high LONP1 expression in VAT was associated with enhanced glucose and lipid metabolism.