enuresis nocturia is more prevalent in children than in adults. Using polysomnography (PSG), we investigated the causes of adult enuresis nocturia in a 20-year-old female patient with nighttime bedwetting. In spite of normal urological examinations, her detailed medical history disclosed frequent sleep paralysis and urination during dreams. During PSG, two electromyograms were attached to her anus to assess the tone of her bladder's sphincter while she slept. During REM sleep, the EMG tone of the mandible decreased, but the anal and bladder sphincter tones did not. The polysomnogram revealed moderate obstructive sleep apnea. Consequently, she was diagnosed with adult parasomnia (nocturnal enuresis) overlap syndrome with OSA. This study demonstrates the value of PSG with simultaneous anal tone EMG for diagnosing NREM parasomnia and nocturnal enuresis.

PURPOSE: To investigate clinical markers for the diagnosis of congenital cytomegalovirus (CMV) infection and determine the correlation between abnormal newborn hearing screening results and asymptomatic congenital CMV infection. METHODS: Medical records of newborns with congenital CMV infection, born at Cheil General Hospital & Women's Healthcare Center from July 2008 to June 2018, were retrospectively reviewed. Infants with congenital CMV infection were classified into “symptomatic,” “asymptomatic,” and “asymptomatic with isolated abnormal automated auditory brainstem response (AABR)” groups. Clinical data were analyzed based on this classification. RESULTS: Among the 59,424 live births, congenital CMV infection was found in 25 neonates, including 19 symptomatic (0.03%) infants, two asymptomatic, and four asymptomatic with isolated abnormal AABR. Diagnostic clues for the identification of congenital CMV infection were intrauterine growth restriction (IUGR), including microcephaly in 10 infants (40.0%), abnormal AABR in four (16.0%), initial complicated signs in four (16.0%), and abnormal findings on brain ultrasonography in three (12.0%). Other less common markers included petechiae, abnormal findings on antenatal ultrasonography, and co-twin with CMV infection. During the recent 10 years, 53,094 of 59,424 newborns (89.3%) had AABR for hearing screening and 493 (0.9%) did not pass. Among them, 477 (96.8%) were screened for CMV, and results were positive for seven (1.5%). Among the seven infants, four had asymptomatic congenital CMV infection. Overall, 0.8% of the newborns with abnormal AABR (four of 477 infants) were diagnosed as having asymptomatic congenital CMV infection. CONCLUSION: The incidence of symptomatic congenital CMV infection was 0.03%, and 0.8% of infants who failed in the newborn hearing screening tests had asymptomatic congenital CMV infection. The most common clinical marker to diagnose congenital CMV infection was IUGR, including microcephaly, and the second isolated marker was abnormal AABR.
Biomarkers ; Brain ; Classification ; Cytomegalovirus Infections ; Cytomegalovirus ; Delivery of Health Care ; Diagnosis ; Evoked Potentials, Auditory, Brain Stem ; Fetal Growth Retardation ; Hearing ; Hospitals, General ; Humans ; Incidence ; Infant ; Infant, Newborn ; Live Birth ; Mass Screening ; Medical Records ; Microcephaly ; Purpura ; Retrospective Studies ; Ultrasonography

BACKGROUND: Androgenic alopecia (AGA) is the most common type of hair loss. It is likely inherited genetically and is promoted by dihydrotestosterone. 5α-reductase has been proven a good target through finasteride use. However, the pathogenesis of AGA cannot be fully explained based only on dihydrotestosterone levels. OBJECTIVE: To identify similar hairloss inhibition activity of RE-ORGA with mode of action other than finasteride. METHODS: We prepared RE-ORGA from Korean herb mixtures. We performed MTT assays for cytotoxicity, Cell Counting Kit-8 assays for cell proliferation, and western blot to identify expression levels of 5α-reductase and Bax. RNA-sequencing was performed for the expression patterns of genes in dihydrotestosterone-activated pathways. Anti-inflammatory activity was also assessed by the expression levels of tumor necrosis factor-alpha (TNF-α) and interleukin 6. RESULTS: REORGA could promote the proliferation of human dermal papilla cells and showed low cytotoxicity. It also inhibited the expression of 5α-reductases and Bax in the cells. RNA-sequencing results verified that the mRNA expressions of SRD5A1, Bax, transforming growth factor-beta 1 (TGF-β1), and TGF-β1 induced transcript 1 (TGFβ1I1) were decreased, whereas expression of protein tyrosine kinase 2 beta (PTK2β) was more elevated. REORGA also showed anti-inflammatory activity through decreased mRNA levels of TNF-α. CONCLUSION: Transcriptionally, up-regulation of PTK2β and concomitant down-regulation of TGFβ1I1 imply that RE-ORGA can modulate androgen receptor sensitivity, decreasing the expression of 5α-reductase type II and Bax together with TGF-β1 transcripts; RE-ORGA also showed partial anti-inflammatory activity. Overall, RE-ORGA is expected to alleviate hair loss by regulating 5α-reductase activity and the receptor's androgen sensitivity.
Alopecia ; Blotting, Western ; Cell Count ; Cell Proliferation ; Cholestenone 5 alpha-Reductase ; Dihydrotestosterone ; Down-Regulation ; Finasteride ; Hair ; Humans ; Interleukin-6 ; Protein-Tyrosine Kinases ; Receptors, Androgen ; RNA, Messenger ; Tumor Necrosis Factor-alpha ; Up-Regulation

Somnambulism or sleepwalking is a disorder classified as non-rapid eye movement sleep parasomnia and is common in adolescents. Sleep fragmentation occurs frequently in somnambulism, and waking up and wandering are the main symptoms of the disorder. Our patient was a 14-year-old male with a 3-year history of sleepwalking at night when he visited our sleep clinic. A polysomnography was performed for the evaluation of parasomnia. Our patient was diagnosed as having parasomnia overlap syndrome with moderate obstructive sleep apnea (OSA). Continuous positive airway pressure (CPAP) therapy was prescribed for the OSA. After 12 weeks of CPAP, not only did the patient’s OSA symptoms resolve but somnambulism disappeared. Previous reports of overlap syndrome with OSA and somnambulism also supported the use of CPAP treatment for patients with both OSA and somnambulism.

PURPOSE: Excess proliferation of mesenchymal cells such as vascular smooth muscle cells and glomerular mesangial cells, cause transplant vascular sclerosis and glomerulosclerosis, which are typical pathological lesions of chronic allograft dysfunction. Mycophenoic acid (MPA) and rapamycin (RPM) were recently reported to have strong anti-proliferative potentials toward vascular smooth muscle cells. However, the potential effects of these drugs, either alone or in combination, on glomerular mesangial cells, remain to be reported. METHODS: Primary cultured mesangial cells, from Sprague-Dawley rats, were isolated, and stimulated with 10ng/ml of PDGF. The test drugs MPA and RPM were administered at various concentrations, either alone or in combination, 15 minutes before the addition of the PDGF. The cell proliferation was assessed by [3H]-thymidine incorporation. RESULTS: The PDGF effectively stimulated the proliferation of the mesangial cells. The MPA inhibited the proliferation in a dose-dependent manner. In comparison to the stimulated control, the MPA (above 500 nM) showed a significant inhibitory effect. The IC50 of the MPA, against PDGF-stimulated mesangial cell proliferation, was between 500 nM and 1microM. The RPM, at 10 nM, showed a significant inhibitory effect. In a linear regression analysis, the RPM was supposed to suppress the mesangial proliferation in a dose-dependent manner (P<0.05). The pattern of inhibition for the MPA and RPM combination was very similar to that of either the MPA or the RPM alone. Both the MPA and RPM were shown to independently suppress the mesangial proliferation from a multiple regression analysis (R2=0.415, P<0.001). CONCLUSION: We demonstrated that MPA and RPM significantly inhibited the proliferation of glomerular mesangial cells, and that these effects were well maintained when used in combination. Our data indicate that both MPA and RPM have unique potentials in preventing the development of transplant mesangial proliferation in renal transplant recipients.
Allografts ; Animals ; Cell Proliferation ; Inhibitory Concentration 50 ; Linear Models ; Mesangial Cells* ; Muscle, Smooth, Vascular ; Mycophenolic Acid* ; Rats* ; Rats, Sprague-Dawley ; Sclerosis ; Sirolimus* ; Transplantation

No abstract available.
Ammonium Compounds* ; Epilepsy ; Poisoning* ; Status Epilepticus*

PURPOSE: Vascular smooth muscle cell (VSMC) proliferation and extracellular matrix protein accumulation play important roles in chronic allograft vasculopathy. Mycophenolic acid (MPA) or rapamycin (RPM) was reported to inhibit VSMC proliferation in vitro and in vivo. However, effects of MPA or RPM on collagen synthesis of VSMCs, and the combined effects of MPA and RPM treatment on VSMC proliferation are not yet reported. METHODS: VSMCs isolated from the aorta of Sprague-Dawley rats were cultured with EMEM supplemented with 10% fetal bovine serum and insulin/ transferrin. Growth arrested and synchronized cells were pretreated with test drugs (alone or combination of various concentrations of MPA and RPM) 1 hour before the addition of 10 ng/ml PDGF. Cell proliferation was assessed by [H3]- thymidine incorporation, and collagen synthesis by [H3]- proline incorporation. RESULTS: PDGF increased cell proliferation and collagen synthesis by 3.4- and 2.1-fold, respectively, compared to control. MPA at above 100 nM or RPM at above 1 nM effectively inhibited PDGF-induced cell proliferation and collagen synthesis. The IC50 of MPA or RPM against PDGF-stimulated cell proliferation was between 100 nM and 1 micrometer or between 1 nM and 10 nM, respectively. The combination of MPA and RPM showed additive effects on PDGF-induced VSMC proliferation in a multiple regression analysis (R2=0.508, P<0.05). CONCLUSION: The present study demonstrated that MPA or RPM significantly inhibited PDGF-induced VSMC proliferation. These independent phenomena were well maintained as suggested by additive effects after combination treatment. PDGF-induced collagen synthesis was also effectively suppressed by the treatment of MPA or RPM.
Allografts ; Animals ; Aorta ; Cell Proliferation ; Collagen* ; Extracellular Matrix ; Inhibitory Concentration 50 ; Muscle, Smooth, Vascular* ; Mycophenolic Acid* ; Proline ; Rats* ; Rats, Sprague-Dawley ; Sirolimus* ; Thymidine ; Transferrin

Ansa pancreatic is a rare variation of pancreas duct. Ansa pancreatica is characterized by focal accessory duct atrophy and an additional curved duct linking main and accessory ducts replacing atrophied duct. Ansa pancreatica is considered as a predisposing factor of recurrent pancreatitis. Pancreatitis can be localized in pancreas head and uncinate process, because pancreas head and uncinate process might be drained through the additional hooked duct of ansa pancreatica. We reports three cases of localized chronic or recurrent pancreatitis cases with underlying ansa pancreatica type anatomic variation.

BACKGROUND: To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier clinical diagnostic test and to determine the impact of CMA results on patient clinical management, we conducted a multicenter prospective study in Korean patients diagnosed as having developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA). METHODS: We performed both CMA and G-banding cytogenetics as the first-tier tests in 617 patients. To determine whether the CMA results directly influenced treatment recommendations, the referring clinicians were asked to complete a 39-item questionnaire for each patient separately after receiving the CMA results. RESULTS: A total of 122 patients (19.8%) had abnormal CMA results, with either pathogenic variants (N=65) or variants of possible significance (VPS, N=57). Thirty-five well-known diseases were detected: 16p11.2 microdeletion syndrome was the most common, followed by Prader-Willi syndrome, 15q11-q13 duplication, Down syndrome, and Duchenne muscular dystrophy. Variants of unknown significance (VUS) were discovered in 51 patients (8.3%). VUS of genes putatively associated with developmental disorders were found in five patients: IMMP2L deletion, PTCH1 duplication, and ATRNL1 deletion. CMA results influenced clinical management, such as imaging studies, specialist referral, and laboratory testing in 71.4% of patients overall, and in 86.0%, 83.3%, 75.0%, and 67.3% of patients with VPS, pathogenic variants, VUS, and benign variants, respectively. CONCLUSIONS: Clinical application of CMA as a first-tier test improves diagnostic yields and the quality of clinical management in patients with DD/ID, ASD, and MCA.
Autism Spectrum Disorder ; Autistic Disorder ; Cytogenetics ; Diagnostic Tests, Routine ; Down Syndrome ; Humans ; Intellectual Disability ; Korea ; Microarray Analysis ; Muscular Dystrophy, Duchenne ; Prader-Willi Syndrome ; Prospective Studies ; Referral and Consultation ; Specialization