Most loci associated with type 2 diabetes mellitus (T2DM) discovered to date are within noncoding regions of unknown functional significance. By contrast, exonic regions have advantages for biological interpretation.

Most loci associated with type 2 diabetes mellitus (T2DM) discovered to date are within noncoding regions of unknown functional significance. By contrast, exonic regions have advantages for biological interpretation.

No abstract available.
Neuromyelitis Optica

Hashimoto's encephalopathy is a rare autoimmune disease, with symptoms of encephalopathy and high titers of serum anti-thyroid antibodies. Current diagnostic criteria include corticosteroid responsiveness, but in some cases, they are refractory to corticosteroids. In steroid non-responders, other immunomodulatory therapies could be applied. Recently, Rituximab is reported as a safe and effective treatment for Hashimoto's encephalopathy. We report a 50-year-old woman with Hashimoto's encephalopathy presented with confusion and catatonia who was refractory to corticosteroid and immunoglobulin but effectively treated with rituximab.
Adrenal Cortex Hormones ; Antibodies ; Autoimmune Diseases ; Brain Diseases ; Catatonia ; Female ; Glucocorticoids ; Humans ; Immunoglobulins ; Immunomodulation ; Middle Aged ; Rituximab ; Thyroid Hormones

Spark’s nevus is a compound word composed of Spitz nevus and Clark’s nevus. It is one of the combined melanocytic nevi which is more common in female and usually presents as a sharp circumscribed hyperpigmented macule on the lower extremities. On histopathologic findings, both cytologic features of Spitz nevus characterized as large spindle or epithelioid melanocytes containing large nuclei with abundant cytoplasm, and architecture of Clark’s nevus characterized as elongation of rete ridges, bridging of the nests, concentric and lamellar fibrosis can be seen. A 24-year-old female presented with an asymptomatic, solitary, dark-brown-colored papule surrounded by brownish patch that looked similar to dysplastic nevus or malignant melanoma on the buttock. On dermoscopic examination, it showed brown-to-black globules, diffuse homogenous pigmentation with blue-white structures, and a surrounding brownish reticular pattern that faded away. On histopathologic findings, overall asymmetrical structure, epithelioid large melanocytes containing large nuclei with abundant cytoplasm, and Kamino body were seen in the central portion. Also, lentiginous hyperplasia, bridging of the nests composed of melanocytes containing foamy cytoplasm, concentric and lamellar fibrosis along with the elongation of rete ridge, and perivascular lymphocytic infiltration were seen in the peripheral portion. The diagnosis of Spark’s nevus was made. Following its definition, this combined nevus is diagnosed histopathologically, but the clinicodermoscopic features have not been well described. Herein, we report a case of Spark’s nevus in which dermoscopy was helpful for differentiating it from malignant melanoma.

BACKGROUND AND OBJECTIVES: This study was aimed to explore the effects of the 5-hydroxytryptamine (5-HT) on potassium currents in rat vestibular nuclear neurons. MATERIALS AND METHOD: Sprague-Dawley rats aged 14 to 16 days were anesthetized with ether and decapitated. After enzymatic digestion, the portion of medial vestibular nucleus neuron was removed by micropunching and gently agitated. The dissociated neurons were transferred into a recording chamber mounted on an inverted microscope and whole-cell membrane currents were recorded at room temperature by using standard patch-clamp techniques. RESULTS: When cells were held at -70 mV and depolarized from -60 mV to +40 mV in 10 mV increments, sustained outward potassium currents were evoked. The response of medial vestibular nuclear neurons to 5-HT was not uniform. The outward potassium currents were increased in 17 of 40 cells and decreased in 23 of 40 cells. 5-carboxamidotryptamine, 5-HT1 agonist increased the outward potassium currents of the medial vestibular nuclear cell. alpha-methyl-5-hydroxytryptamine, 5-HT2 agonist decreased the outward potassium currents of the medial vestibular nuclear cell. CONCLUSION: These results suggest that 5-HT affects the potassium currents of the cell with different effects according to the receptor subtype on which it acts.
Animals ; Digestion ; Dihydroergotamine ; Ether ; Membranes ; Neurons* ; Patch-Clamp Techniques ; Potassium Channels ; Potassium* ; Rats* ; Rats, Sprague-Dawley ; Serotonin 5-HT1 Receptor Agonists ; Serotonin 5-HT2 Receptor Agonists ; Serotonin* ; Vestibular Nuclei

Targetoid hemosiderotic nevus (THN) is a rare variant of melanocytic nevus, characterized by a sudden development of a targetoid ecchymotic halo around a pre-existing nevus. THN clinically raises concern for malignant transformation due to its abrupt change in color and size. THN should be distinguished from other diseases showing a peripheral halo, including targetoid hemosiderotic hemangioma, halo nevus, and Meyerson nevus. Dermoscopy can help clinicians to differentiate THN from these diseases. The typical dermoscopic features of THN are known to be divided into two distinctive areas: the central melanocytic area and the peripheral ecchymotic area. In our case, dermoscopy revealed a novel bull’s eye pattern composed of a central area with characteristic features of benign melanocytic nevus, an intermediated white circular ring, and a peripheral milky red area. When a sudden change occurs in a pre-existing nodule showing targetoid features, dermoscopy should be considered before conducting a biopsy or surgical intervention.

OBJECTIVE: To report the latest long-term outcome of amyotrophic lateral sclerosis (ALS) and to analyze the predictors of prognosis. METHODS: Subjects who were diagnosed with ALS between January 2005 and December 2009 at a single institute were followed up until death or up to December 2014. Data regarding age, sex, date of onset, date of diagnosis, presence of bulbar symptoms on onset, date of initiation of non-invasive ventilation (NIV), and the date of tracheostomy were collected. Survival was assessed using Kaplan-Meier curves and multivariate analyses of the risk of death were performed using the Cox proportional hazards model. RESULTS: Among 212 suspicious subjects, definite ALS was diagnosed in 182 subjects. The survival rate at 3 and 5 years from onset was 61.5% and 40.1%, respectively, and the survival rate at 3 and 5 years post-diagnosis was 49.5% and 24.2%, respectively. Further, 134 patients (134/182, 73.6%) were initiated on NIV, and among them, 90 patients (90/182, 49.5%) underwent tracheostomy. Male gender and onset age of ≥65 years were independent predictors of adverse survival. CONCLUSION: The analysis of long term survival in ALS showed excellent outcomes considering the overall poor prognosis of this disease.
Age of Onset ; Amyotrophic Lateral Sclerosis* ; Diagnosis ; Humans ; Male ; Multivariate Analysis ; Noninvasive Ventilation ; Prognosis ; Proportional Hazards Models ; Survival Rate ; Tracheostomy

OBJECTIVE: The aim of this study was to compare the success rates of the manual and motor-driven mini-screw insertion methods according to age, gender, length of mini-screws, and insertion sites. METHODS: We retrospectively reviewed 429 orthodontic mini-screw placements in 286 patients (102 in men and 327 in women) between 2005 and 2010 at private practice. Age, gender, mini-screw length, and insertion site were cross-tabulated against the insertion methods. The Cochran-Mantel-Haenszel test was performed to compare the success rates of the 2 insertion methods. RESULTS: The motor-driven method was used for 228 mini-screws and the manual method for the remaining 201 mini-screws. The success rates were similar in both men and women irrespective of the insertion method used. With respect to mini-screw length, no difference in success rates was found between motor and hand drivers for the 6-mm-long mini-screws (68.1% and 69.5% with the engine driver and hand driver, respectively). However, the 8-mm-long mini-screws exhibited significantly higher success rates (90.4%, p < 0.01) than did the 6-mm-long mini-screws when placed with the engine driver. The overall success rate was also significantly higher in the maxilla (p < 0.05) when the engine driver was used. Success rates were similar among all age groups regardless of the insertion method used. CONCLUSIONS: Taken together, the motor-driven insertion method can be helpful to get a higher success rate of orthodontic mini-screw placement.
Female ; Hand ; Humans ; Male ; Maxilla ; Private Practice ; Retrospective Studies

No abstract available.
Aged ; Biopsy ; Chemotherapy, Adjuvant ; Colectomy ; Colonic Neoplasms/*pathology/therapy ; Humans ; Liposarcoma/*pathology/therapy ; Male ; Neoplasms, Second Primary/*pathology/therapy ; Radiotherapy, Adjuvant ; Retroperitoneal Neoplasms/*pathology/therapy ; Time Factors ; Tomography, X-Ray Computed ; Treatment Outcome