Familial hyperkalemic periodic paralysis is an autosomal-dominant channelopathy characterized by reversible paralysis associated with episodic hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene (SCN4A) have been reported to be responsible for this disorder. Paramyotonia congenita is also caused by mutations in the SCN4A gene. Here, we report the case of a 17-year-old boy who presented with both hyperkalemic periodic paralysis and paramyotonia congenita. A molecular analysis of the SCN4A gene revealed a heterozygous T>C transition at nucleotide 2078, leading to an Ile693Thr mutation. This mutation was absent in the patient’s parents supporting a de novo Ile693Thr mutation in our patient.

We analyzed the mRNA expression patterns of major potassium channel genes to determine the mechanism of hypokalemia in familial hypokalemic periodic paralysis. We used quantitative RT-PCR to examine the mRNA levels of both inward (KCNJ2, KCNJ6, and KCNJ14) and delayed rectifi er (KCNQ1 and KCNA2) potassium channel genes in skeletal muscle cells from both normal and patient groups, prior to and after exposure to 4 mM and 50 mM potassium buffers. Quantitative RT-PCR analysis revealed no changes in the mRNA levels of these genes in normal and patient cells on exposure to 4 mM potassium buffer. However, after exposure to 50 mM potassium buffer, which was used to induce depolarization, normal cells showed a signifi cant decrease in KCNJ2, KCNJ6, and KCNJ14 expression, but no change in KCNQ1 and KCNA2 expression. In contrast, patient cells showed no change in KCNJ2 and KCNJ6 expression, but an increase in KCNJ14 expression. Furthermore, KCNQ1 and KCNA2 showed decreased expression. We found that the expression levels of both inward and delayed rectifi er potassium channel genes in patient cells differ from those in normal cells. Altered potassium channel gene expression in patient cells may suggest a possible mechanism for hypokalemia in familial hypokalemic periodic paralysis.

No abstract available.
Cell Proliferation* ; Female ; Humans ; Trophoblasts*

Background: Trachyonychia is a type of nail dystrophy. Various associated diseases have been linked to it. However, no research has investigated whether clinical features differ depending on the presence of these associated diseases. Objective: This study aimed to describe the epidemiology and clinical features of trachyonychia in South Korea. We also analyzed whether clinical features differed based on the presence of associated diseases. Methods: We retrospectively reviewed medical records and clinical photographs of patients who visited our medical center with trachyonychia as their primary complaint between March 2003 and March 2021. Severity was evaluated using the Physical Global Assessment scale with 5 grades based on the affected area and degree of nail roughness. Results: This study included 100 cases of idiopathic trachyonychia and 24 cases of non-idiopathic trachyonychia.There were no significant differences in age, sex, subtype, severity, symptoms, or the number of affected nails between the two groups. However, patients with non-idiopathic trachyonychia had a significantly longer treatment duration and showed fewer complete responses to treatment. Conclusion While this study showed no significant difference in initial presentation between idiopathic and non-idiopathic trachyonychia, it could not definitively determine treatment response due to uncontrolled treatment modalities in both groups. Therefore, further clinical studies with controlled treatment protocols are warranted.

PURPOSE: Chylous ascites is an accumulation of lymphatic fluid within the peritoneal cavity due to trauma or to an obstruction on the lymphatic system. Postoperative chylous ascites is a rare complication of abdominal surgery. It is frequently reported after retroperitoneal dissections and results in high morbidity and mortality. However, there have been few report of such a complication following a radical gastrectomy. Therefore, we review the clinical analysis and treatment of chylous ascites based on our experience. MATERIALS AND METHODS: From July 1992 to June 2001, we treated 13 cases of chylous ascites after operations for gastric cancer. We reviewed medical charts of those patients retrospectively. RESULTS: The incidence of chylous ascites after operations for gastric cancer was 0.83% (13/1552). The mean time from ingestion of a meal after the operation to the development of symptoms was 2 days (range: 1~6 days). Conservative treatment by fasting, total parenteral nutrition (TPN), and repeated paracentesis was successful in all patients. The mean time from diagnosis to complete resolution was 25 days (range: 2~105 days). CONCLUSION: Chylous ascites should be considered in any patient with a typical milky color of drainage who has recently undergone radical gastrectomy. Treatment with fasting, TPN, and repeated paracentesis usually is successful.
Chylous Ascites* ; Diagnosis ; Drainage ; Eating ; Fasting ; Gastrectomy ; Humans ; Incidence ; Lymphatic System ; Meals ; Mortality ; Paracentesis ; Parenteral Nutrition, Total ; Peritoneal Cavity ; Retrospective Studies ; Stomach Neoplasms*

PURPOSE: To determine evaluate the clinical effectiveness of low-dose erythromycin (EM) therapy in patients with diffuse panbronchiolitis (DPB), and to correlate the pulmonary function testing (PFT) changes seen at serial high-resolution CT (HRCT) withthe results of post-treatment. MATERIALS AND METHODS: We retrospectively evaluated 13 DPB patients [seven men and six women aged 23-68 (mean, 46.2) years] who had undergone PFT, HRCT, and transbronchial or open lung biopsy prior to long-term, low-dose EM therapy (250 mg twice daily for more than six months). The interval between initial and follow-up study ranged from 7 to 32 (mean, 16.6+/-8.0) months, and we compared the changes in HRCT findings and PFT parameters before and after treatment. RESULTS: At HRCT after EM therapy, the extent of centrilobular nodules (p=0.006), peripheral bronchiolar wall thickening (p=0.02), and areas of low attenuation (p=0.011) decreased significantly, while FVC and FEV1 showed significant increases: FVC, from 2.47+/-0.83 to 2.74+/-0.95 (p=0.028); and FEV1, from 1.66+/-0.75 to 1.95+/-0.87 (p=0.02). As the extent of peripheral bronchiolar wall thickening (r=-0.609, p=0.047) and areas of low attenuation (r=-0.687, p=0.041) decreased at serial HRCT, FVC and FEV1 increased significantly. CONCLUSION: Long-term follow-up HRCT findings showed that for DPB patients, lowdose EM provides effective treatment. In addition, HRCT appears to be valuable for the objective evaluation of responses to EM therapy.
Biopsy ; Bronchiolitis ; Erythromycin* ; Female ; Follow-Up Studies ; Humans ; Lung ; Male ; Respiratory Function Tests* ; Retrospective Studies

No abstract available.
Bronchopulmonary Sequestration* ; Cystic Adenomatoid Malformation of Lung, Congenital* ; Lung*

We experienced a case of aldosterone and cortisol secreting adrenal adenoma associated with pregnancy in a 23 year old female patient.The patient complained of severe thoraco-lumbar pain, weight gain, sweating, anxiety, and mild abdominal discomfort. On physical findings, hypertension, tachycardia, facial plethora, moon face, buffalo hump and truncal obesity were found.
Adenoma ; Aldosterone ; Anxiety ; Buffaloes ; Female ; Humans ; Hydrocortisone ; Hypertension ; Moon ; Obesity ; Pregnancy ; Sweat ; Sweating ; Tachycardia ; Weight Gain

No abstract available.
Embryonic Structures* ; Fluorescence* ; Humans* ; In Situ Hybridization* ; Preimplantation Diagnosis*

BACKGROUND AND OBJECTIVES: Various hearing tests and vestibular function tests are used to diagnose acoustic neuroma. We analyzed the clinical characteristics and the results of audiovestibular function tests between patients of intrameatal and extrameatal acoustic neuroma. SUBJECTS AND METHOD: Reviewing the medical records for 64 patients with acoustic neuroma between March 2007 and February 2014, we divided the patients into two groups, intrameatal (31 patients) and extrameatal acoustic neuroma (33 patients) according to the involvement of cerebropontine angle. We compared the clinical characteristics, pure tone audiograms, speech audiometry, caloric test, and vestibular evoked myogenic potential (VEMP) between the two groups. RESULTS: While hearing loss was the most frequent presenting symptom in patients with intrameatal acoustic neuroma, dizziness was the most common symptom in patients with extrameatal acoustic neuroma. Hearing thresholds measured by pure tone audiometry and speech discrimination scores were significantly worse for patients with extrameatal acoustic neuroma. Abnormal unilateral canal paresis of caloric test was significantly higher for extrameatal acoustic neuroma than for intrameatal acoustic neuroma. Most patients with acoustic neuroma showed abnormal findings in the VEMP test, but the number of patients between intrameatal and extrameatal acoustic neuroma did not differ significantly. CONCLUSION: Clinical symptoms and the results of audiovestibular function tests differed according to the tumor size of acoustic neuroma. Physicians should counsel patients presenting with audiovestibular symptoms of the possibility of acoustic neuroma.
Acoustics* ; Audiometry ; Audiometry, Speech ; Caloric Tests ; Dizziness ; Hearing ; Hearing Loss ; Hearing Tests ; Humans ; Medical Records ; Methods ; Neuroma, Acoustic* ; Paresis ; Speech Perception ; Vestibular Function Tests