X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton’s tyrosine kinase (BTK) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of these lymphocytes from the peripheral circulation. Consequently, this absence leads to a profound deficiency of lg all isotypes, and an increased susceptibility to encapsulated bacterial infections. A 15-month-old Korean boy presented with recurrent sinusitis and otitis media after 6 months of age, and had a family history of 2 maternal uncles with XLA. Laboratory tests revealed a profound deficiency of Ig isotypes, and a decreased count of CD19⁺ B cells in the peripheral circulation. Based on his family history and our laboratory test results, he was diagnosed with XLA. We performed BTK gene analysis of peripheral blood samples obtained from family members to confirm the diagnosis. Mutational analysis revealed a novel hemizygous frameshift mutation (c.82delC, p.Arg28Alafs*5), in the BTK gene. His mother and maternal grandmother were heterozygous carriers of this mutation and his two maternal uncles were hemizygous at the same position. After XLA diagnosis, intravenous immunoglobulin (400 mg/kg, monthly) treatment was initiated; recurrent sinusitis and otitis media were subsequently brought under control. To our knowledge, this is the first reported case of a Korean pedigree with a novel mutation in the BTK gene.
Agammaglobulinemia* ; B-Lymphocytes ; Bacterial Infections ; Diagnosis ; Frameshift Mutation ; Grandparents ; Humans ; Immunoglobulins ; Infant ; Lymphocytes ; Male ; Mothers ; Otitis Media ; Pedigree ; Protein-Tyrosine Kinases ; Sinusitis

BACKGROUND AND OBJECTIVES: When treating the supraglottic cancer, we must consider functions such as respiration, phonation, swallowing, aspiration as well as the complete eradication of the disease. Open supraglottic laryngectomy is an oncologically safe procedure that can preserve the laryngeal function. However, in immediate perioperative time, supraglottic laryngectomy requires tracheostomy and L-tube insertion. On the other hand, transoral laser supraglottic laryngectomy, while it is debated whether or not it is oncologically safe, it doesn't require tracheostomy and L-tube insertion. We compared and analyzed the outcomes and morbidity of both treatments. SUBJECTS AND METHOD: Patients who have been diagnosed as supraglottic cancer between January 1995 through December 2004 and who were treated with either open supraglottic laryngectomy or transoral laser supraglottic laryngectomy for the primary treatment were included in the study. We analyzed the overall survival and treatment results through retrospective chart review and the statistical analysis was carried out by the SPSS 10.0. RESULTS: Five-year overall survival rate was 88.5% in open surgery and 78.2% in transoral surgery. But the p-value of 0.216 indicates that there is no statistically significant differences among two groups. Five-year disease free survival rates were 83.4% in open surgery and 68.0% in transoral surgery. The p-value of 0.221 again indicates that there is no statistically significant differences among two groups. Tracheostomy and L-tube insertion were conducted in all of the patients in open surgery but conducted in 20% and 6.7% of the patients, respectively, in transoral surgery. CONCLUSION: There are no differences between the 5-year overall survival rate and 5-year disease free survival rate between the two groups. However, morbidity is lower in the transoral group, so it would be preferable to conduct transoral laser supraglottic laryngectomy in supraglottic cancer patients in the future. Further studies using more cases are recommended.
Deglutition ; Disease-Free Survival ; Hand ; Humans ; Laryngeal Neoplasms ; Laryngectomy* ; Laser Therapy ; Phonation ; Respiration ; Retrospective Studies ; Survival Rate ; Tracheostomy

Real-time reverse transcription (rRT)-PCR, which is the reference standard for the diagnosis of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, generally involves a time-consuming and costly RNA extraction step prior to amplification. We evaluated the performance of the AdvanSure One-Stop COVID-19 Plus Kit (LG Chem, Seoul, Korea), a novel rRT-PCR assay that can detect SARS-CoV-2 within 90 minutes using a streamlined RNA extraction method. In total, 509 nasopharyngeal swab (NPS) specimens (SARS-CoV-2 positive: N=205; SARS-CoV-2 negative: N=304) previously tested using the PowerChek SARS-CoV-2 Real-time PCR Kit (Kogene Biotech, Seoul, Korea) were tested using the AdvanSure assay. The limit of detection (LOD) of the AdvanSure assay was determined using serially diluted inactivated SARS-CoV-2. The positive and negative percent agreements between the AdvanSure and PowerChek assays were 99.5% (204/205) and 99.3% (302/304), respectively. The LODs of the AdvanSure assay for SARS-CoV-2 nucleocapsid and spike/RNA-dependent RNA polymerase genes were 672 and 846 copies/mL, respectively. The results show that the performance of the AdvanSure assay is comparable to that of the PowerChek assay used for routine SARS-CoV-2 testing, suggesting that the AdvanSure assay is a useful diagnostic tool for rapid and accurate detection of SARS-CoV-2 infection.

Ginseng gintonin is an exogenous ligand of lysophosphatidic acid (LPA) receptors. Accumulating evidence shows LPA helps in rapid recovery of corneal damage. The aim of this study was to evaluate the therapeutic efficacy of gintonin in a rabbit model of corneal damage. We investigated the signal transduction pathway of gintonin in human corneal epithelium (HCE) cells to elucidate the underlying molecular mechanism. We next evaluated the therapeutic effects of gintonin, using a rabbit model of corneal damage, by undertaking histochemical analysis. Treatment of gintonin to HCE cells induced transient increases of [Ca²⁺](i) in concentration-dependent and reversible manners. Gintonin-mediated mobilization of [Ca²⁺](i) was attenuated by LPA1/3 receptor antagonist Ki16425, phospholipase C inhibitor U73122, inositol 1,4,5-triphosphate receptor antagonist 2-APB, and intracellular Ca²⁺ chelator BAPTA-AM. Gintonin facilitated in vitro wound healing in a concentration-dependent manner. When applied as an eye-drop to rabbits with corneal damage, gintonin rapidly promoted recovery. Histochemical analysis showed gintonin decreased corneal apoptosis and increased corneal cell proliferation. We demonstrated that LPA receptor activation by gintonin is linked to in vitro and in vivo therapeutic effects against corneal damage. Gintonin can be applied as a clinical agent for the rapid healing of corneal damage.
Apoptosis ; Cell Proliferation ; Corneal Injuries ; Epithelium, Corneal ; Humans ; In Vitro Techniques ; Inositol 1,4,5-Trisphosphate ; Mortuary Practice ; Panax ; Rabbits ; Receptors, Lysophosphatidic Acid ; Signal Transduction ; Therapeutic Uses ; Type C Phospholipases ; Wound Healing* ; Wounds and Injuries*