BACKGROUND: Immune thrombocytopenic purpura (ITP) is an acquired bleeding disorder in which the immune system destroys platelets. There were many studies which predicted the factors associated with the prognosis of childhood ITP, but controversies remained. We analyzed the predicting factors associated with the clinical outcome and prognosis of pediatric patients with newly diagnosed ITP in a single institution.METHODS: We reviewed retrospectively the medical records of 170 patients with newly diagnosed ITP at Chungnam National University Hospital (CNUH) from January 2005 to December 2015. The demographics, complete blood count (CBC), leukocyte differential counts and treatment of patients with ITP were reviewed.RESULTS: The median age at diagnosis were 20 months old (range, 0 to 189 months) for acute ITP and 52 months old for chronic ITP. After initial diagnosis of ITP, 20 of 170 patients (11.8%) were later diagnosed as chronic ITP. Age at diagnosis and absolute lymphocyte count (ALC) at diagnosis were statistically correlated with development of chronic ITP. ALC at diagnosis and at discharge were significantly higher in acute ITP patients than chronic ITP patients. We determined that ALC >4,109/μL at diagnosis and ALC >3,825/μL at discharge were associated with platelet recovery after 12 months.CONCLUSION: This study demonstrated that that high ALC at admission and discharge predict a favorable outcome in children with newly diagnosed ITP. Further studies are warranted to validate these findings.
Blood Cell Count ; Blood Platelets ; Child ; Chungcheongnam-do ; Demography ; Diagnosis ; Hemorrhage ; Humans ; Immune System ; Leukocytes ; Lymphocyte Count ; Medical Records ; Prognosis ; Purpura, Thrombocytopenic, Idiopathic ; Retrospective Studies

The Korean Bioinformation Center (KOBIC) is a national bioinformatics research center in Korea. We developed many bioinformatics algorithms and applications to facilitate the biological interpretation of OMICS data. Here we present an introduction to major bioinformatics resources of databases and tools developed at KOBIC. These resources are classified into three main fields: genome, proteome, and literature. In the genomic resources, we constructed several pipelines for next generation sequencing (NGS) data processing and developed analysis algorithms and web-based database servers including miRGator, ESTpass, and CleanEST. We also built integrated databases and servers for microarray expression data such as MDCDP. As for the proteome data, VnD database, WDAC, Localizome, and CHARMM_HM web servers are available for various purposes. We constructed IntoPub server and Patome database in the literature field. We continue constructing and maintaining the bioinformatics infrastructure and developing algorithms.
Computational Biology ; Genome ; Korea ; Proteome

PURPOSE: Paroxysmal non-epileptic event (PNE) is a common seizure-like symptom in children. With regard to therapy, a decrease in iron levels was reported in breath-holding spells, but not in other PNEs. The effects of iron supplementation were investigated on various PNEs. METHODS: Medical records of patients who visited our clinic with seizure-like symptoms were retrospectively reviewed at Chungnam National University Hospital, from March 2013 to March 2016. RESULTS: A total of 29 patients (65.9%) were boys and 15 (34.1%) were girls. The mean gestational age and birth weight were 39.3 weeks and 3,200 g, respectively. The mean age at the time of visit was 23.5 months. Of the 11 patients who underwent brain imaging, 10 (90.9%) had normal findings and 1 (9.1%) had subdural hemorrhage. An electroencephalogram was performed in 29 patients; 26 of them had normal findings (89.7%), 2 (6.9%) had slow background, and 1 (3.4%) had epileptiform discharges. A total of 31 patients (70.5%) had iron levels lower than 80 µg/dL. Iron supplementation was administered in 4 of the 13 patients with normal iron status and in 21 of the 31 patients with low iron status. A significant improvement in the frequency and severity of symptom was observed in 91.7% of patients who received iron supplementation (P<0.05). CONCLUSIONS: Symptoms improved in 80% of patients with PNE, and a higher rate of symptom improvement could be expected with iron supplementation.
Birth Weight ; Child* ; Chungcheongnam-do ; Electroencephalography ; Female ; Gestational Age ; Hematoma, Subdural ; Humans ; Infant ; Infant Behavior ; Infant, Newborn ; Iron* ; Medical Records ; Neuroimaging ; Retrospective Studies ; Seizures

BACKGROUND: Pathogenic variants of USH1C, encoding a PDZ-domain-containing protein called harmonin, have been known to cause autosomal recessive syndromic or nonsyndromic hearing loss (NSHL). We identified a causative gene in a large Korean family with NSHL showing a typical pattern of autosomal dominant (AD) inheritance. METHODS: Exome sequencing was performed for five affected and three unaffected individuals in this family. Following identification of a candidate gene variant, segregation analysis and functional studies, including circular dichroism and biolayer interferometry experiments, were performed. RESULTS: A novel USH1C heterozygous missense variant (c.667G>T;p.Gly223Cys) was shown to segregate with the NSHL phenotype in this family. This variant affects an amino acid residue located in the highly conserved carboxylate-binding loop of the harmonin PDZ2 domain and is predicted to disturb the interaction with cadherin-related 23 (cdh23). The affinity of the variant PDZ2 domain for a biotinylated synthetic peptide containing the PDZ-binding motif of cdh23 was approximately 16-fold lower than that of the wild-type PDZ2 domain and that this inaccessibility of the binding site was caused by a conformational change in the variant PDZ2 domain. CONCLUSIONS A heterozygous variant of USH1C that interferes with the interaction between cdh23 and harmonin causes novel AD-NSHL.

No abstract available.
Parkinsonian Disorders*

BACKGROUND: Human papillomavirus (HPV) is a well-established oncogenic virus of cervical, anogenital, and oropharyngeal cancer. Various subtypes of HPV have been detected in 0% to 60% of breast cancers. The roles of HPV in the carcinogenesis of breast cancer remain controversial. This study was performed to determine the prevalence of HPV-positive breast cancer in Korean patients and to evaluate the possibility of carcinogenic effect of HPV on breast. METHODS: Meta-analysis was performed in 22 case-control studies for HPV infection in breast cancer. A total of 123 breast cancers, nine intraductal papillomas and 13 nipple tissues of patients with proven cervical HPV infection were tested by real-time polymerase chain reaction to detect 28 subtypes of HPV. Breast cancers were composed of 106 formalin-fixed and paraffin embedded (FFPE) breast cancer samples and 17 touch imprint cytology samples of breast cancers. RESULTS: The overall odds ratio between breast cancer and HPV infection was 5.43 (95% confidence interval, 3.24 to 9.12) with I² = 34.5% in meta-analysis of published studies with case-control setting and it was statistically significant. HPV was detected in 22 cases of breast cancers (17.9%) and two cases of intaductal papillomas (22.2%). However, these cases had weak positivity. CONCLUSIONS: These results failed to serve as significant evidence to support the relationship between HPV and breast cancer. Further study with larger epidemiologic population is merited to determine the relationship between HPV and breast cancer.
Breast Neoplasms* ; Breast* ; Carcinogenesis ; Case-Control Studies ; Humans* ; Nipples ; Odds Ratio ; Oncogenic Viruses ; Oropharyngeal Neoplasms ; Papilloma ; Papilloma, Intraductal ; Paraffin ; Prevalence ; Real-Time Polymerase Chain Reaction*

Gua Sha is a traditional Asian medicine with different names in many Asian countries. It is a treatment to scrape the petechiae of the skin with ointment. It has generally been administered to patients with upper respiratory infections, heat syndrome, and pain. Herein, we report the case of a 31-year-old Cambodian man who was found dead at a farm accommodation. During the autopsy, multiple linear intradermal hemorrhages without subcutaneous damage were observed in the upper chest and both shoulders. The cause of death was sudden unexpected nocturnal death syndrome because he was a young Asian man who died while sleeping without specific findings. Since it is an unfamiliar traditional medicine in Korea compared to other Asian countries, forensic officers without background knowledge about Gua Sha initially suspected that he was severely assaulted or pressed against a particular object enough to cause crush asphyxia. Because of the difficulty of going to the hospital during the coronavirus disease 2019 pandemic, Gua Sha was used to treat headaches and mild fever. Therefore, this case shows that understanding the culture of other countries could be helpful for investigations especially with the increase of multicultural families in Korea.

Objective: In the coronavirus disease 2019 pandemic, virus transmission via exposal to arrest victims infected can be a huge risk to rescuers during cardiopulmonary resuscitation (CPR). We hypothesized that using a mechanical chest compression device can reduce the rescuer’s exposure to cardiac arrest patients during CPR. Methods: This is a retrospective clinical study that compared CPRs using a mechanical chest compression device (mCPR) with CPRs with manual chest compression (c-CPR). All CPR data were obtained by analyzing recorded video clips and the medical charts. The primary outcome was the number of rescuers who participated in CPR. In addition, the length of time rescuers’ staying around the arrested victim and some procedure time were evaluated. Results: There was no significant difference in baseline data of CPR between the m-CPR (n=28) and c-CPR (n=25) groups. The m-CPR group showed a significantly reduced mean number of rescuers (4.4±0.5 vs. 5.5±0.5) and mean total time of rescuer’s staying (2,609.9±315.4 seconds vs. 3,286.0±329.9 seconds) comparing with the c-CPR group (P<0.05). The m-CPR group showed a delay in the first rhythm analysis compared with the c-CPR group (40.0 seconds [30.0-57.5] vs. 27.0 seconds [25.0-43.5]) Conclusion The usage of a mechanical compression device can reduce the number of rescuers and the length of time staying around the victim. However, a delay in rhythm analysis can occur in the m-CPR group.

Acute disseminated encephalomyelitis (ADEM) and Guillain-Barré syndrome (GBS) are both rare post-infectious neurological disorders. The co-existence of these conditions has often been reported despite of low incidence. We describe a 20-year-old male, who presented with acute flaccid paralysis and encephalopathy. The patient showed reversible MRI lesions suggesting ADEM. This case showed anti-GT1a IgG and anti-GM1 IgM antibodies positivity. We suggest that certain immunogenicity within central and peripheral nervous system may share a common autoimmune process during the disease course.
Antibodies* ; Brain Diseases ; Encephalomyelitis, Acute Disseminated* ; Gangliosides ; Guillain-Barre Syndrome* ; Humans ; Immunoglobulin G ; Immunoglobulin M ; Incidence ; Magnetic Resonance Imaging ; Male ; Nervous System Diseases ; Paralysis ; Peripheral Nervous System ; Young Adult

Spermatogonial stem cells (SSCs) are germline stem cells located along the basement membrane of seminiferous tubules in testes. Recently, SSCs were shown to be reprogrammed into multipotent SSCs (mSSCs). However, both the key factors and biological networks underlying this reprogramming remain elusive. Here, we present transcriptional regulatory networks (TRNs) that control cellular processes related to the SSC-to-mSSC reprogramming. Previously, we established intermediate SSCs (iSSCs) undergoing the transition to mSSCs and generated gene expression profiles of SSCs, iSSCs and mSSCs. By comparing these profiles, we identified 2643 genes that were up-regulated during the reprogramming process and 15 key transcription factors (TFs) that regulate these genes. Using the TF-target relationships, we developed TRNs describing how these TFs regulate three pluripotency-related processes (cell proliferation, stem cell maintenance and epigenetic regulation) during the reprogramming. The TRNs showed that 4 of the 15 TFs (Oct4/Pou5f1, Cux1, Zfp143 and E2f4) regulated cell proliferation during the early stages of reprogramming, whereas 11 TFs (Oct4/Pou5f1, Foxm1, Cux1, Zfp143, Trp53, E2f4, Esrrb, Nfyb, Nanog, Sox2 and Klf4) regulated the three pluripotency-related processes during the late stages of reprogramming. Our TRNs provide a model for the temporally coordinated transcriptional regulation of pluripotency-related processes during the SSC-to-mSSC reprogramming, which can be further tested in detailed functional studies.
Basement Membrane ; Cell Proliferation ; Epigenomics ; Multipotent Stem Cells* ; Seminiferous Tubules ; Stem Cells* ; Testis ; Transcription Factors ; Transcriptome