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.

Patients who had posterior synechiae associated with uveitis,IOL mplantation, vitrectomy, underwent Nd-YAG synechiolysis had been treated with topical corticosteroids and surgical iridectomy. Even minimal dilatation of the pupil by Nd YAG synechiolysis enable the patient to read and the surgeon to postpone cataract surgery and evaluate optic disc or fundus. Also, pupil block may be treated by detaching the synechiae.18 Patients (20 eyes) with posterior synechiae underwent Nd-YAG synechiolysis at Kangnam St.Mary's Hospital from November 1997 to August 1998. An average of 17.14 +/-6.43mJ laser were used. The average prelaser pupil size was 3.78 +/-0.98 mm ;postlaser, 5.13 +/-1.27 mm.This change was statistically significant (p<0.01). Microhyphema and pigment dispersion developed in 4 eyes. However,no significant long-term complications occurred, and there were no obvious lenticular damage and pupil abnormality. Because this laser treatment is relatively safe and offers some possibility of visual improvement, we recom-mend Nd-YAG synechiolysis,but only if performed by an experienced laser microsurgeon.
Adrenal Cortex Hormones ; Cataract ; Dilatation ; Humans ; Iridectomy ; Lasers, Solid-State ; Pupil ; Vitrectomy

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.

Bronchogenic cyst is an uncommon congenital lesion which is derived from the primitive foregut. Most bronchogenic cyst may develope at the tracheal bifurcation, both main bronchi, the lung parenchymeand the mediastinum. A 40-year old male was evaluated for dyspnea and chest tightness. Computed tomography revealed a well dermarcated, 7.2 x 7.9 cm sized, homogeneous mass compressing the left atrium. 2D-echo showed grade III mitral regurgitation. We completely removed the cystic mass and then confirmed the bronchogenic cyst in the pathological diagnosis. During the follow up period, the patient progressed well without any symptoms and showed grade I mitral regurgitation on the 2D-Echo. Therefore, we report a case of the bronchogenic cyst causing grade III mitral regurgitation.
Adult ; Bronchi ; Bronchogenic Cyst* ; Diagnosis ; Dyspnea ; Follow-Up Studies ; Heart Atria ; Humans ; Lung ; Male ; Mediastinum ; Mitral Valve Insufficiency* ; Thorax

No abstract available.
Induction Chemotherapy* ; Ovarian Neoplasms*

Pseudomyxoma peritonei is a poorly understood condition characterized by mucinous ascites and multifocal peritoneal mucinous tumors. Pseudomyxoma peritonei is most commonly associated with mucinous tumors of the ovary and appendix. When two lesions are morphologically similar, it is difficult to determine whether one reflects a metastasis or whether the tumors are independent. Many studies concluded that most cases in which both the appendix and ovary were involved were primary appendiceal tumor with secondary involvement of the ovary, but we have experienced one case of pseudomyxoma peritonei originated from independent primary borderline mucinous tumors of the ovary and appendix. So we report this case with the brief review of literatures
Appendix* ; Ascites ; Female ; Mucins* ; Neoplasm Metastasis ; Ovary* ; Pseudomyxoma Peritonei*

Although it is well known that the respiratory failure is a major cause of death in most patients with chronic neuromuscular disease, predominant respiratory dysfunction without severe involvement of limb muscles is an unusual complication of mitochondrial myopathy in adult age. We experienced two cases of mitochondrial myopathy with severe involvement of respiratory function and only mild involvement of limb muscles. One is a 16 year old female and another is a 22 year old male. The diagnosis is based on morphologic characteristics of "ragged red fibers" under the light microscope and abnormal mitochondrias on the electron microscope in the muscle biopsy.
Adolescent ; Adult ; Electromyography ; Female ; Human ; *Mitochondria, Muscle/ultrastructure ; Muscular Diseases/*complications ; Respiration, Artificial ; Respiratory Insufficiency/*etiology/therapy

A 35-year-old man was admitted with a 20 day history of generalized edema and muscular weakness of the lower extremities. He was alert with a pale puffy face and an ejection murmur was heard at the cardiac apex. The electrocardiogram disclosed low voltage, first degree atrioventricular block, and a right bundle branch block. During the hospitalization an intractable diastolic hypotension developed, which measured 0 mmHg at the lowest point. At that time the echocardiogram revealed a dilated, akinetic right ventricle. Eventually a multiorgan failure developed and an autopsy following his death presented a fibrofatty replacement of the right ventricular myocardium. This might be a case of an arrhythmogenic right ventricular dysplasia/cardiomyopathy, which is usually characterized clinically by a ventricular tachycardia and may cause a sudden death in young adults.
Adult ; Atrioventricular Block ; Autopsy* ; Bundle-Branch Block ; Death, Sudden ; Edema ; Electrocardiography ; Heart Ventricles ; Hospitalization ; Humans ; Hypotension ; Lower Extremity ; Muscle Weakness ; Myocardium ; Systolic Murmurs ; Tachycardia, Ventricular ; Young Adult

Oxyphilic (H rthle) cells have abundant eosinophilic granular cytoplasms and occur in both benign and malignant neoplasms of the thyroid gland. Most published studies described mainly oxyphilic tumors of follicular type, and reports on oxyphilic papillary thyroid carcinomas are rare. The oxyphilic variant of papillary carcinoma differs from the classic papillary carcinoma in its more aggressive biological behavior. We report a case of oxyphilic papillary carcinoma exhibiting exclusively oxyphilic cells in a follicular pattern without papillary structures. The pattern of papillary carcinoma was confirmed by fine needle aspiration material and lymph nodal metastasis, both of which revealed typicaled papillary structures with characteristic nuclear features, psammoma bodies, and oxyphilic cytoplasm.
Biopsy, Fine-Needle* ; Carcinoma, Papillary* ; Cytoplasm ; Eosinophils ; Neoplasm Metastasis ; Thyroid Gland* ; Thyroid Neoplasms