A 67-year-old man developed intermittent headaches, ophthalmoplegia, loss of consciousness, and hyporeflexic quadriparesis. An examination disclosed bilateral papilledema, constricted visual fields, and elevated intracranial pressure. All these symptoms were well correlated with intermittent high intracranial pressure which represented Lundberg A wave. Repeated lumbar punctures finally revealed metastatic malignant cells from lung cancer. Leptomeningeal metastasis may manifest with various constellations of symptoms.
Aged ; Headache* ; Humans ; Intracranial Hypertension* ; Intracranial Pressure ; Lung Neoplasms ; Neoplasm Metastasis ; Ophthalmoplegia* ; Papilledema ; Quadriplegia* ; Radiculopathy ; Spinal Puncture ; Unconsciousness ; Visual Fields

No abstract available.
Hemorrhage* ; Trigeminal Nerve*

OBJECTIVE: To assess the clinical usefulness of computer- assisted line bisection task for the patients with sensory- attentional visuospatial neglect. METHOD: Forty patients with unilateral hemispheric stroke (25 right, 15 left) and 15 normal age-matched subjects participated in this study. Computer-assisted line bisection task (CALBT) was designed using modified Milner landmark test to assess the sensory-attentional aspect of visuospatial neglect. Accuracy of response and reaction time for the transected lines, and response rate for the bisected lines were measured. Correlation between the results of CALBT and conventional line bisection test and Albert test was evaluated. RESULTS: In patients with right hemispheric lesion, results of CALBT demonstrated shifting of attention to the right hemifield and neglect of the stimulus in the left hemifield. In contrast, patients with left hemispheric lesion showed significantly decreased attention to the right hemifield and shifting of attention to the left hemifield. Performances of CALBT correlated with the line bisection test, but not with the Albert test. CONCLUSION: Computed assisted line bisection task can be used for the quantitative assessment of the sensory attentional aspect of visuospatial attention in patients with unilateral neglect.
Humans ; Reaction Time ; Stroke

Purpose: Targeted next-generation sequencing (NGS) panels for solid tumors have been useful in clinical framework for accurate tumor diagnosis and identifying essential molecular aberrations. However, most cancer panels have been designed to address a wide spectrum of pan-cancer models, lacking integral prognostic markers that are highly specific to gliomas. Materials and Methods: To address such challenges, we have developed a glioma-specific NGS panel, termed “GliomaSCAN,” that is capable of capturing single nucleotide variations and insertion/deletion, copy number variation, and selected promoter mutations and structural variations that cover a subset of intron regions in 232 essential glioma-associated genes. We confirmed clinical concordance rate using pairwise comparison of the identified variants from whole exome sequencing (WES), immunohistochemical analysis, and fluorescence in situ hybridization. Results: Our panel demonstrated high sensitivity in detecting potential genomic variants that were present in the standard materials. To ensure the accuracy of our targeted sequencing panel, we compared our targeted panel to WES. The comparison results demonstrated a high correlation. Furthermore, we evaluated clinical utility of our panel in 46 glioma patients to assess the detection capacity of potential actionable mutations. Thirty-two patients harbored at least one recurrent somatic mutation in clinically actionable gene. Conclusion We have established a glioma-specific cancer panel. GliomaSCAN highly excelled in capturing somatic variations in terms of both sensitivity and specificity and provided potential clinical implication in facilitating genome-based clinical trials. Our results could provide conceptual advance towards improving the response of genomically guided molecularly targeted therapy in glioma patients.

PURPOSE: Mutations in BRCA genes are the main cause of hereditary breast cancer in Korea. The aim of this study was to investigate the characteristics of breast cancers involving BRCA1 (BRCA1 group) and BRCA2 (BRCA2 group) mutations. METHODS: We retrospectively reviewed the medical records of patients with BRCA1 (BRCA1 group) or BRCA2 (BRCA2 group) mutation positive breast cancer from multiple centers and compared the data to that of the Korean Breast Cancer Society registry (registry group). RESULTS: The patients of the BRCA1 group were diagnosed at a younger age (median age, 37 years) and had tumors of higher histological (61.3% with histological grade 3) and nuclear (37.5% with nuclear grade 3) grade than those of the registry group. In addition, the frequency of ductal carcinoma in situ in the BRCA1 group was lower (3.7%) than in the registry group, and the BRCA1 group were more likely to be triple-negative breast cancer (61.3%). Patients in the BRCA2 group were also younger at diagnosis (mean age, 41 years) and were more likely to have involvement of the axillary node than the registry group (45.5% vs. 33.5%, p=0.002). The BRCA1 and BRCA2 groups did not show a correlation between tumor size and axillary node involvement. CONCLUSION: We report the characteristics of BRCA mutation positive breast cancer patients in the Korean population through multicenter data and nation-wide breast cancer registry study. However, BRCA-mutated breast cancers appear highly complex, and further research on their molecular basis is needed in Korea.
Breast Neoplasms* ; Breast* ; Carcinoma, Intraductal, Noninfiltrating ; Diagnosis ; Genes, BRCA1 ; Genes, BRCA2 ; Humans ; Korea ; Medical Records ; Retrospective Studies ; Triple Negative Breast Neoplasms

This study was conducted to evaluate the effect of Sigma Anti-bonding Molecule Calcium Carbonate (SAC) as therapy for ovariectomy-induced osteoporosis in rats. Three weeks after surgery, fifteen ovariectomized Sprague-Dawley rats were divided randomly into 3 groups: sham-operated group (sham), ovariectomized group (OVX) and SAC-treatment group (OVX+SAC). The OVX+SAC group was given drinking water containing 0.0012% SAC for 12 weeks. Bone breaking force and mineralization as well as blood parameters related to the bone metabolism were analyzed. In OVX animals, blood concentration of 17beta-estradiol decreased significantly, while osteocalcin and type I collagen C-terminal telopeptides (CTx) increased. Breaking force, bone mineral density (BMD), calcium and phosphorus in femurs, as well as uterine and vaginal weights, decreased significantly following OVX. However, SAC treatment (0.0012% in drinking water) not only remarkably restored the decreased 17beta-estradiol and increased osteocalcin and CTx concentrations, but also recovered decreased femoral breaking force, BMD, calcium and phosphorus, although it did not reversed reproductive organ weights. It is suggested that SAC effectively improve bone density by preventing bone turnover mediated osteocalcin, CTx and minerals, and that it could be a potential candidate for therapy or prevention of postmenopausal osteoporosis.
Animals ; Bone Density ; Calcium ; Calcium Carbonate ; Collagen Type I ; Drinking ; Drinking Water ; Female ; Femur ; Humans ; Minerals ; Organ Size ; Osteocalcin ; Osteoporosis ; Osteoporosis, Postmenopausal ; Phosphorus ; Rats ; Rats, Sprague-Dawley ; Weights and Measures

BACKGROUND: Contrast induced nephropathy(CIN) has been known to be a risk factor of significant in-hospital and long-term adverse outcomes. In old aged patients undergoing percutaneous coronary intervention(PCI) in the modern era, the incidence and prognostic implications of nephropathy are unknown. METHODS: With a retrospective analysis of the clinical and angiographic data, we determined the incidence of, risk factors for, and prognostic implications of CIN(defined as an increase in serum creatinine[Cr] >0.5 mg/dL from baseline) after PCI. RESULTS: Of 360 patients, 16(4.4%) patients experienced CIN and 5(1.4%) patients required temporary renal replacement therapy (hemodialysis or hemofiltration). Patients with baseline Cr 1.4 mg/dL and diabetic patients had a significant risk of CIN. In multivariate analysis, CIN was significantly associated with baseline renal dysfunction and diabetes showed marginal significance in developing CIN. Twenty-five percent of patients with CINdied during the index hospitalization compared with only 1.2% of patients without CIN (p<0.001). In patients with CIN, events of CIN impair renal function at six-month follow up. CONCLUSIONS: In old aged patients who are undergoing PCI, diabetic patients with baseline renal impairment are at higher risk for CIN. Furthermore, CIN was highly correlated with death during the index hospitalization.
Acute Kidney Injury ; Aged* ; Angioplasty ; Coronary Disease ; Follow-Up Studies ; Hospitalization ; Humans ; Incidence* ; Multivariate Analysis ; Percutaneous Coronary Intervention* ; Renal Replacement Therapy ; Retrospective Studies ; Risk Factors*

The benefits of extracranial-Intracranial bypass surgery have not yet been proven, but recent studies have showed the beneficial effects in selected patients. We report a 52-year-old man who underwent an emergency EC-IC bypass surgery to prevent further progression of neurological deficits after acute ICA occlusion. After overcoming the concerns of the high surgical risk involved in acute ischemic stroke, this case shows that emergency bypass surgery may be helpful in highly select patients by improving hemodynamic compromise.
Cerebral Revascularization* ; Emergencies* ; Hemodynamics ; Humans ; Middle Aged ; Stroke

Nephronophthisis-related ciliopathy (NPHP-RC) is a common genetic cause of end-stage renal failure during childhood and adolescence and exhibits an autosomal recessive pattern of inheritance. Genetic diagnosis is quite limited owing to genetic heterogeneity in NPHP-RC. We designed a novel approach involving the step-wise screening of Sanger sequencing and targeted exome sequencing for the genetic diagnosis of 55 patients with NPHP-RC. First, five NPHP-RC genes were analyzed by Sanger sequencing in phenotypically classified patients. Known pathogenic mutations were identified in 12 patients (21.8%); homozygous deletions of NPHP1 in 4 juvenile nephronophthisis patients, IQCB1/NPHP5 mutations in 3 Senior–Løken syndrome patients, a CEP290/NPHP6 mutation in 1 Joubert syndrome patient, and TMEM67/MKS3 mutations in 4 Joubert syndrome patients with liver involvement. In the remaining undiagnosed patients, we applied targeted exome sequencing of 34 ciliopathy-related genes to detect known pathogenic mutations in 7 (16.3%) of 43 patients. Another 18 likely damaging heterozygous variants were identified in 13 NPHP-RC genes in 18 patients. In this study, we report a variety of pathogenic and candidate mutations identified in 55 patients with NPHP-RC in Korea using a step-wise application of two genetic tests. These results support the clinical utility of targeted exome sequencing to resolve the issue of allelic and genetic heterogeneity in NPHP-RC.
Adolescent ; Diagnosis* ; Exome* ; Genetic Heterogeneity* ; Humans ; Kidney Failure, Chronic ; Korea ; Liver ; Mass Screening ; Wills

OBJECTIVES: There is a great deal of interest in the possibility that environmental factors may influence the risk of developing allergic rhinitis (AR) in early life. We investigated the simultaneous effects of mode of delivery and duration of breastfeeding on the development of AR in children. METHODS: Data from 1,374 children participating in the Allergic Rhinitis Cohort Study for kids (ARCO-kids study) was analyzed. All subjects were divided into AR or non-allergic rhinitis (NAR) groups. Data on environmental factors, mode of delivery and duration of breastfeeding were collected using a questionnaire. RESULTS: Compared with short-term breastfeeding (<6 months), long-term breastfeeding (≥12 months) was significantly associated with a lower prevalence of AR (adjusted odds ratio [aOR], 0.54; 95% confidence interval [CI], 0.34 to 0.88). Children in the AR group also had a higher cesarean delivery rate than those in the NAR group (39.1% vs. 32.8%, P=0.05). Regarding the combined effects of mode of delivery and duration of breastfeeding, long-term breastfeeding with a vaginal delivery strongly suppressed the development of AR, compared to short-term breastfeeding with a cesarean delivery (aOR, 0.47; 95% CI, 0.30 to 0.73). CONCLUSION: Long-term breastfeeding (≥12 months) and a vaginal delivery are associated with a lower risk of developing childhood AR.
Breast Feeding ; Cesarean Section ; Child ; Cohort Studies ; Delivery, Obstetric ; Female ; Humans ; Odds Ratio ; Pregnancy ; Prevalence ; Rhinitis ; Rhinitis, Allergic