A case of primary aldosteronism combined with acquired nephrogenic diabetes insipidus

AbstractAldosterone-producing adrenal adenoma can induce various clinical manifestations as a result of chronic exposure to aldosterone. We report a rare case of a 37-year-old man who complained of general weakness and polyuria. He was diagnosed with aldosterone-producing adrenal adenoma and nephrogenic diabetes insipidus. Aldosterone enhances the secretion of potassium in the collecting duct, which can lead to hypokalemia. By contrast, nephrogenic diabetes insipidus, which manifests as polyuria and polydipsia, can occur in several clinical conditions such as acquired tubular disease and those attributed to toxins and congenital causes. Among them, hypokalemia can also damage tubular structures in response to vasopressin. The patient’s urine output was >3 L/d and was diluted. Owing to the ineffectiveness of vasopressin, we eventually made a diagnosis of nephrogenic diabetes insipidus. Laparoscopic adrenalectomy and intraoperative kidney biopsy were subsequently performed. The pathologic finding of kidney biopsy revealed a decrease in aquaporin-2 on immunohistochemical stain

A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome

BACKGROUND: Peutz-Jeghers syndrome (PJS) is an unusual autosomal dominant disorder characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps. Patients with PJS are at an increased risk of developing multi-organ cancer, most frequently those involving the gastrointestinal tract. Germline mutation of the STK11 gene, which encodes a serine-threonine kinase, is responsible for PJS. METHODS: Using DNA samples obtained from the patient and his family members, we sequenced nine exons and flanking intron regions of the STK11 gene using polymerase chain reaction (PCR) and direct sequencing. RESULTS: Sequencing of the STK11 gene in the proband of the family revealed a novel 1-base pair deletion of guanine (G) in exon 6 (c.826delG; Gly276AlafsX11). This mutation resulted in a premature termination at codon 286, predicting a partial loss of the kinase domain and complete loss of the C-terminal domain. We did not observe this mutation in both parents of the PJS patient. Therefore, it is considered a novel de novo mutation. CONCLUSION: The results presented herein enlarge the spectrum of mutations of the STK11 gene by identifying a novel de novo mutation in a PJS patient and further support the hypothesis that STK11 mutations are disease-causing mutations for PJS with or without a positive family history

Successful mobilization using a combination of plerixafor and G-CSF in pediatric patients who failed previous chemomobilization with G-CSF alone and possible complications of the treatment

Peripheral blood stem cell (PBSC) mobilization, which uses plerixafor (AMD 3100), a newly developed specific inhibitor of the CXCR4 receptor, in combination with granulocyte-colony stimulating factor(G-CSF), has been shown to enhance the stem cell mobilization in adult patients, but pediatric data are scarce. We documented our experience with this drug in 6 Korean pediatric patients who had failed in chemomobilization, using G-CSF, alone. All patients were mobilized CD34+ cells (median, 11.08 × 106/kg: range, 6.34-28.97 × 106/kg) successfully within 2 to 3 cycles of apheresis, without complications. A total of 7 autologous transplantations were performed, including 1 tandem transplantation. However, 2 patients with brain tumors showed severe pulmonary complications, including spontaneous pneumomediastinum. This is the first study of PBSC mobilization with plerixafor in Asian pediatric patients. Furthermore our study suggests that mobilization with plerixafor may be effective in Korean pediatric patients, who have previously been heavily treated and have failed PBSC mobilization with classical chemomobilization, using G-CSF. However, further studies are needed to examine the possible complications of autologous transplantation, using a mobilized plerixafor product in children

A fatal case report of invasive pulmonary aspergillosis and mucormycosis coinfection in an immunocompetent patient with coronavirus disease 2019 in Korea

Systemic glucocorticoid treatment is highly recommended in critically ill coronavirus disease 2019 (COVID-19) patients. However, secondary fungal infections are of concern in such patients. Here, we describe the first case of COVID-19-associated invasive pulmonary aspergillosis (CAPA) and COVID-19-associated mucormycosis (CAM) coinfection in a COVID-19 positive immunocompetent patient in Korea. A 69-year-old man was admitted to our hospital with COVID-19 pneumonia. He had no underlying comorbidities and was not taking medications. He received remdesivir, dexamethasone, and antibiotic therapy under mechanical ventilation. Although his condition improved temporarily, multiple cavities were observed on chest computed tomography, and Aspergillus fumigatus was cultured from tracheal aspiration culture. He was diagnosed with probable CAPA and received voriconazole therapy. However, his condition was not significantly improved despite having received voriconazole therapy for 4 weeks. After release from COVID-19 quarantine, he underwent bronchoscopy examination and was then finally diagnosed with CAPA and CAM coinfection on bronchoscopic biopsy. Antifungal treatment was changed to liposomal amphotericin B. However, his progress deteriorated, and he died 4 months after admission. This case highlights that clinical suspicion and active checkups are required to diagnose secondary fungal infections in immunocompetent COVID-19 patients who receive concurrent glucocorticoid therapy

Molecular genetic study of novel biomarkers for early diagnosis of oral squamous cell carcinoma

Objectives: Early detection and treatment of an oral squamous cell carcinoma (OSCC) is critical because of its rapid growth, frequent lymph-node metastasis, and poor prognosis. However, no clinically-valuable methods of early diagnosis exist, and genetic analysis of OSCCs has yielded no biomarkers. Study D esign: We investigated the expression of genes associated with inflammation in OSCCs via a quantitative reverse transcriptase polymerase chain reaction (qRT-PCR) analysis of microarray data. Tumor and normal tissues from five patients with an OSCC were used for microarray analysis. Differentially-expressed genes, identified using permutation, local pooled error (LPE), t-tests, and significance analysis of microarrays (SAM), were selected as candidate genetic markers. Results: Two groups corresponding to tissue identity were evident, implying that their differentially-expressed genes represented biological differences between tissues. Fifteen genes were identified using the Student’s paired t-test ( p< 0.05) and the SAM, with a false discovery rate of less than 0.02. Based on gene expression, these 15 genes can be used to classify an OSCC. A genetic analysis of functional networks and ontologies, validated by using a qRT-PCR analysis of the tissue samples, identified four genes, ADAM15, CDC7, IL12RB2 and TNFRSF8, that demonstrated excellent concordance with the microarray data. Conclusions: Our study demonstrated that four genes (ADAM15, CDC7, IL12RB2 and TNFRSF8) had potential as novel biomarkers for the diagnosis and the treatment of an OSCC

Beneficial Effects of Traditional Seasonings on Quality Characteristics of Fermented Sausages

Though traditional seasonings are widely used in many dishes, however, no attention has been paid to the investigation of their effects on quality characteristics of food products. The present investigation was undertaken to study the effects of incorporating several traditional seasonings including doenjang (fermented soybean paste), gochu-jang (red pepper paste), fresh medium-hot, and hot peppers, and fresh garlic on the lipid oxidation, cholesterol content and sensory characteristics of fermented sausages. Six fermented sausage treatments (5 with 1% (w/w) each test seasoning and 1 without added test seasoning (control) were prepared. The addition of seasonings generally had beneficial effects on the improvement of fermented sausage’s quality however the effects differed depending on the each type of seasonings added. Significant lower pH values were found in all fermented sausages made with the seasonings while, lower levels of lipid oxidation were found in the treatments with hot peppers and garlic as compared with the control (p<0.05). The treatment with seasonings did not cause color or texture defects in the products whereas the sausages made with gochu-jang had significantly higher Commission International de l’Eclairagea* (redness) value in comparison with the control. Noticeably, incorporating doenjang, medium-hot peppers, hot peppers and garlic resulted in reduction of 26.50, 32.54, 47.04, and 48.54 mg cholesterol/100 g samples, respectively (p<0.05). Higher scores for the sensory traits such as aroma, taste, color and acceptability were also given for the sausages made with seasonings. The current work demonstrates that the test seasonings represent potentially natural ingredients to be used for producing healthier fermented sausages