Familial Spinocerebellar Ataxia Type 2 Parkinsonism Presenting as Intractable Oromandibular Dystonia

We have previously described a Korean family afflicted with spinocerebellar ataxia type 2 (SCA2) parkinsonism in which genetic analysis revealed CAG expansion of 40 repeats in the ATXN2 gene.1 The affected members presented with levodopa-responsive parkinsonism without cerebellar ataxia. Some showed motor fluctuation and dyskinesia, further mimicking idiopathic Parkinson’s disease (PD). Herein, we report a member of this family who developed jaw-opening and lingual-protrusion dystonia as the chief presentation

Quality of Life Differences between Younger and Older Breast Cancer Patients

Purpose: This study was designed to investigate quality of life (QOL) differences between younger (<50 years) and older (≥50 years) breast cancer survivors and to determine the unique effect of age on QOL after adjusting age-correlated variables. Methods: One thousand two hundred fifty patients were enrolled. Clinicopatholgical and social parameters were reviewed and Functional Assessment of Cancer Therapy-Breast cancer instrument (FACT-B) and the Ladder of Life scale were used to measure the QOL. Among 1,250 eligible patients, 1,094 patients completed the questionnaire and were used for analysis. Chi-square test, t-test and a series of multiple regression analyses were conducted to verify age-related differences in QOL between two groups and to evaluate the unique contribution of age variable on QOL of breast cancer patients. Results: Significant socio-demographic and clinical differences existed based on age categories, includin

Feasibility of hippocampus-sparing VMAT for newly diagnosed glioblastoma treated by chemoradiation: pattern of failure analysis

To identify the pattern of failure and oncological safety of hippocampus (HC)-sparing IMRT (HSRT) in newly diagnosed glioblastoma (GBM) patients. Eighty-two GBM patients treated with temozolomide-based chemoradiation using HSRT between 2014 and 2018 were retrospectively reviewed. HSRT consisted of a sparing of Dmax of the contralateral HC < 17 Gy. Fifteen patients were unable to achieve the dose-constraints for adequate target coverage. The dose to ipsilateral HC was kept as low as possible. The pattern of failure was investigated, focusing on the area in the vicinity of the spared HC (organ and + 1 cm area). The median HSRT dose was 60 Gy in 30 fractions. The median follow-up for survivors was 11.7 months. The median progression-free and overall survival were 9.7 and 23.5 months, respectively. Six (7.3%) and eight (9.8%) patients eventually demonstrated progressive disease at the contralateral HC and HC + 1 cm, respectively. The 12-month contralateral HC and HC + 1 cm failure-free rate were 97.2 and 93.4%, respectively. However, no patient (0%) and two patients (2.4%) showed failure at contralateral HC and HC + 1 cm at initial progression, respectively. The dominant pattern of failure at the contralateral HC was by subependymal seeding (66.7%). The incidence of failure at the contralateral HC and HC + 1 cm is very low and mostly accompanied by disseminated disease progression after HSRT. Since HSRT does not compromise oncological outcomes, it could be considered especially for GBM patients who are expected to have favorable survival outcomes

Comparison of the Efficacy of Glimepiride, Metformin, and Rosiglitazone Monotherapy in Korean Drug-Naïve Type 2 Diabetic Patients: The Practical Evidence of Antidiabetic Monotherapy Study

BackgroundAlthough many anti-diabetic drugs have been used to control hyperglycemia for decades, the efficacy of commonly-used oral glucose-lowering agents in Korean type 2 diabetic patients has yet to be clearly demonstrated.MethodsWe evaluated the efficacy of glimepiride, metformin, and rosiglitazone as initial treatment for drug-naïve type 2 diabetes mellitus patients in a 48-week, double-blind, randomized controlled study that included 349 Korean patients. Our primary goal was to determine the change in HbA1c levels from baseline to end point. Our secondary goal was to evaluate changes in fasting plasma glucose (FPG) levels, body weight, frequency of adverse events, and the proportion of participants achieving target HbA1c levels.ResultsHbA1c levels decreased from 7.8% to 6.9% in the glimepiride group (P<0.001), from 7.9% to 7.0% in the metformin group (P<0.001), and from 7.8% to 7.0% (P<0.001) in the rosiglitazone group. Glimepiride and rosiglitazone significantly increased body weight and metformin reduced body weight during the study period. Symptomatic hypoglycemia was more frequent in the glimepiride group and diarrhea was more frequent in the metformin group.ConclusionThe efficacy of glimepiride, metformin, and rosiglitazone as antidiabetic monotherapies in drug-naïve Korean type 2 diabetic patients was similar in the three groups, with no statistical difference. This study is the first randomized controlled trial to evaluate the efficacy of commonly-used oral hypoglycemic agents in Korean type 2 diabetic patients. An additional subgroup analysis is recommended to obtain more detailed information

Association of the programmed cell death 1 (PDCD1) gene polymorphism with ankylosing spondylitis in the Korean population

The PD-1 (programmed death 1) molecule is a negative regulator of T cells. PDCD1 (programmed cell death 1) has been reported to have a genetic association in systemic lupus erythematosus and rheumatoid arthritis in Caucasians. However, there are no reports on the association between this gene and ankylosing spondylitis (AS). The present study investigated the association of the PD-1 polymorphisms and the haplotypes with AS in a Korean population sample. In a case-control association study, two single-nucleotide polymorphisms, PD-1.5 C/T and PD-1.9 T/C, were genotyped in 95 AS patients and 130 healthy controls. The T allele of the PD-1.9 polymorphism was more frequent in the Korean male population with AS than in the Korean male controls (21.0% versus 6.9%, odds ratio 1.89, 95% confidence interval 1.483 to 2.408). The frequency of the CT haplotype (PD-1.5 C/T and PD-1.9 T/C) was higher in the AS patients (19%) than the controls (5.4%) (odds ratio 1.83, 95% confidence interval 1.559 to 2.521). The PD-1 polymorphism was demonstrated in Korean AS patients. The results suggest a genetic association between the PD-1 polymorphism and susceptibility to AS