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.

No abstract available.
Aging ; Animals ; Cerebral Cortex* ; Neurons* ; Neuropeptide Y* ; Neuropeptides* ; Nitric Oxide Synthase* ; Nitric Oxide* ; Rats*

No abstract available.
Colorectal Neoplasms*

No abstract available.
DNA* ; Ploidies*

No abstract available.
Balloon Valvuloplasty* ; Constriction, Pathologic*

A 23-year-old woman with Down syndrome presented erythematous keratotic plaques with whitish scales on the elbows, forearm, knee and leg. Histopathological findings revealed acanthosis with broad and short rete ridges, alternating orthokeratosis and parakeratosis oriented in both vertical and horizontal directions, and dermal superficial perivascular lymphocytic infiltration, compatible with pityriasis rubra pilaris.
Down Syndrome* ; Elbow ; Female ; Forearm ; Humans ; Knee ; Leg ; Parakeratosis ; Pityriasis Rubra Pilaris* ; Pityriasis* ; Weights and Measures ; Young Adult

PURPOSE: The purpose of this study was to investigate the physiological index, anxiety and depression by the severity of lower urinary tract symptoms in patients with benign prostatic hyperplasia. METHODS: This research was conducted from the 4th to the 27th of May in 2016 on112 patients with benign prostatic hyperplasia. The data were analyzed using a chi-square test, ANOVA, and Pearson Correlation Coefficients. RESULTS: The results demonstrated a difference depending on the dysuria period of each lower urinary tract symptom, marital status, occupation and perceived health state of the patient. The physiological index by lower urinary tract symptoms showed a difference in the maximum flow rate, amount of post-void residual urine and Prostate-Specific Antigen (PSA), and anxiety and depression factors also revealed a difference. Lower urinary tract symptoms showed a positive correlation to the amount of post voided residual urine and PSA, a negative correlation to the maximum flow rate and also indicated a positive correlation to depression. CONCLUSION: The results of the study belonging to the moderate and severe categories were high when the result was based on the categorization of subjects with benign prostatic hyperplasia with lower urinary tract symptoms. Considering that depression levels increase as the symptom intensifies and the anxiety score is also high with mild symptoms, psychological support intervention is needed when a pattern of benign prostatic hyperplasia appears.
Anxiety* ; Depression* ; Dysuria ; Humans ; Lower Urinary Tract Symptoms* ; Marital Status ; Occupations ; Prostate-Specific Antigen ; Prostatic Hyperplasia* ; Urinary Tract

Primary role of ultrasound in patients with thyroid nodule is to determine the multiplicity and detect occult carcinoma. We analyzed US findings of 53 thyroid carcinomas with multiple nodular lesions from january 1988 to december 1991. The results were as follows: 1. 109 malignant nodules in 53 cases and 24 benign in 23 were comfirmed. 2. The nature of the masses were solid in 72 malignant nodules (74.2%), and complex in 25 (25.8%) of which 19 were predominantly solid. 3. The echo pattern of the solid and solid predominant masses were hypoechoic in 78 malignant nodules (80.4%), hyperechoic in 10 (10.3%), and isoechoic in 3 (9.3%) 4. Internal punctate calcifications within the masses were observed in 31 malignant nodules (31.9%). 5. Halo sign was present in 16 malignant nodules(16.5%). 6. The preoperative sonographic diagnosis of thyroid carcinoma was made in 39.4% of 53 cases with multiple nodules on US. In conclusion, the number, and halo formation of nodules were insignificant to differentiate the benign nodule from the malignant. The heterogeneous hypoechoic nodules with size greater than 4cm, multiple stippled calcifications, displacement of the trachea or other surrounding structures of combined lymph node enlargements seem to indicate the possibility of malignancy.
Diagnosis ; Goiter* ; Humans ; Lymph Nodes ; Thyroid Gland* ; Thyroid Neoplasms* ; Thyroid Nodule ; Trachea ; Ultrasonography

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.
Nipples*