Ring chromosome 20 [r(20)] syndrome is typically characterized by intractable epilepsy, variable degrees of behavior problems and cognitive deficits, and an absence of or minimal dysmorphic features. Here we report a case diagnosed with r(20) syndrome exhibiting rare clinical manifestations of intractable epilepsy, growth failure, hypothyroidism, and cataract. This 17-year-old female patient who showed growth failure and no dysmorphic features had the first seizure at the age of 8 years. The seizure pattern was described as periods of non-convulsive status epilepticus with prolonged confusional state, motionless stare, mutism, and subtle motor seizures, lasting for minutes to hours. The interictal EEG showed bilateral synchronous, rhythmic high voltage delta waves intermixed with occasional spikes over the bilateral frontal areas. The seizures were refractory to medical treatments. Hypothyroidism and cataract were subsequently diagnosed at the age of 16 years and 17 years, respectively. Chromosome study showed a female genome with r(20) mosaicism. In conclusion, r(20) syndrome might cause multisystemic involvement, and therefore, comprehensive surveys of the central nervous system, ophthalmologic system, and endocrine system, among others, are crucial.

Acute Disease ; Diagnosis, Differential ; Humans ; Male ; Middle Aged ; Myocardial Infarction ; diagnosis ; pathology ; Pancreatitis ; diagnosis ; pathology

Atrial fibrillation is an epidemic in Asia that is increasingly prevalent. Apart from stroke risk stratification and management of anticoagulation, physicians managing this group of patients also need to determine an optimal strategy in terms of rate or rhythm control. With new techniques of catheter ablation to maintain patients in sinus rhythm, patients with atrial fibrillation now have more options for treatment, on top of pharmacological methods. This paper aims to review the current evidence for rate and rhythm control in both general patients and subgroups of interest commonly encountered in clinical practices such as obesity, heart failure and thyroid disease.

Current permanent right ventricular and right atrial endocardial pacing leads are implanted utilizing a central lumen stylet. Right ventricular apex pacing initiates an abnormal asynchronous electrical activation pattern, which results in asynchronous ventricular contraction and relaxation. When pacing from right atrial appendage, the conduction time between two atria will be prolonged, which results in heterogeneity for both depolarization and repolarization. Six patients with Class I indication for permanent pacing were implanted with either single chamber or dual chamber pacemaker. The SelectSecure 3830 4-French (Fr) lumenless lead and the SelectSite C304 8.5-Fr steerable catheter-sheath (Medtronic Inc., USA) were used. Pre-selected pacing sites included inter-atrial septum and right ventricular outflow tract, which were defined by ECG and fluoroscopic criteria. All the implanting procedures were successful without complication. Testing results (mean atrial pacing threshold: 0.87 V; mean P wave amplitude: 2.28 mV; mean ventricular pacing threshold: 0.53V; mean R wave amplitude: 8.75 mV) were satisfactory. It is concluded that implantation of a 4-Fr lumenless pacing lead by using a streerable catheter-sheath to achieve inter-atrial septum or right ventricular outflow tract pacing is safe and feasible.
Cardiac Pacing, Artificial/*methods ; Electrodes, Implanted ; Equipment Safety ; Pacemaker, Artificial ; Prosthesis Implantation/methods ; Sick Sinus Syndrome/*therapy

We describe two cases of right hyperglycemia hemichorea (HGHC) with identical Tc-99m TRODAT-1/ Tc-99m ECD scan findings. While the brain MRI showed signal alterations within the left putamen, there was evidence of hyperperfusion on Tc-99m TRODAT-1 but hypoperfusion on Tc-99m ECD within the left putamen, in association with hyperperfusion within left thalamus on Tc-99m ECD. The discrepancy between the Tc-99m TRODAT-1 and Tc-99m ECD scan provides insight into the imbalance between direct and indirect circuits along the nigrostriatal pathway, as the fundamental genesis of HGHC. Furthermore, the hyperperfusion at the left thalamus represents thalamic disinhibition secondary to loss of pallidal negative control, which ultimately leads to HGHC through re-entrant outflow to the motor cortex.
Hyperglycemia

Humans ; Atrial Fibrillation/surgery* ; Anti-Arrhythmia Agents/therapeutic use* ; Treatment Outcome ; Catheter Ablation ; Recurrence

Background:Reports on the aquaporin-4 immunoglobulin G (AQP4-IgG) status for cognitive performance and neuroimaging correlations are limited in neuromyelitis optica (NMO) and multiple sclerosis (MS) literature. Methods: Cognitive results of 19 MS and 15 NMO patients were compared with 47 agematched controls. Apparent diffusion coeffi cient (ADC) values were used to delineate gray matter and white matter damages and correlate with neuropsychological results. Results: Verbal memory test showed signifi cant differences between MS and NMO in the late registration, early and delay recall (p<0.05), while their retention rates were even. In MS, ADC values were signifi cantly elevated in the dorsolateral prefrontal and occipital gray matter which was in contrast with NMO group that showed elevation in the dorsolateral prefrontal gray matter and parieto-occcipital white matter. AQP4-IgG status exerted a limited effect on ADC values and neuropsychological results. Conclusions: Verbal memory test might be helpful in differentiating NMO and MS. ADC values can be used as a surrogate marker for tissue injury in NMO and MS since they were in line with the cognition scores. Anatomical regions with elevated ADC values were different in NMO and MS.

PURPOSE: Previous western studies have found Caucasians with skin cancer, either melanoma or nonmelanoma skin cancer (NMSC), have an elevated risk of second primary cancer. Our objective was to assess the risk of second primary cancer in Taiwanese with NMSC. MATERIALS AND METHODS: By using data from Taiwan's National Health Insurance Research Database, we conducted a population-based cohort study to assess the risk of incident second primary cancer in Taiwanese affected by NMSC. RESULTS: We identified 505 subjects with NMSC and 2,020 matched controls. After adjustment for potential confounders including age, sex, urbanization, and Charlson Comorbidity Index, people who had NMSC had a 1.43-fold (95% confidence interval [CI], 1.05 to 1.96) risk for the development of second primary cancer as comparedwith control group. Menwith NMSC had a 2.99-fold (95% CI, 1.00 to 9.10) risk for second primary cancer involving the lip, oral cavity, and pharynx and a 3.51-fold (95% CI, 1.21 to 10.17) risk for second primary cancer involving the genitourinary organs when compared to the control group. By contrast, women with NMSC did not have an increased risk of second primary cancer. CONCLUSION: This study revealed Asians with NMSC have an increased risk of second primary cancer. Our findings can be a useful reference for health care for people diagnosed with NMSC.
Asian Continental Ancestry Group ; Cohort Studies* ; Comorbidity ; Delivery of Health Care ; Female ; Humans ; Lip ; Melanoma ; Mouth ; National Health Programs ; Neoplasms, Second Primary* ; Pharynx ; Skin Neoplasms* ; Skin* ; Urbanization

Child ; Female ; Humans ; Male ; Mucopolysaccharidosis IV ; genetics ; Mutation ; N-Acetylgalactosamine-4-Sulfatase ; genetics

Clinical expansion of mesenchymal stem cells (MSCs) is hampered by the lack of knowledge regarding how to prevent MSC apoptosis and promote their proliferation in serum-free medium. Our in vitro studies demonstrated that human umbilical cord MSCs (HUCMSCs) underwent apoptosis in the serum-free medium. When HUCMSCs were co-cultured with retinal pigment epithelial cells (ARPE19), however, HUCMSCs exhibited normal growth and morphology in serum-free medium. Their colony formation was promoted by the conditioned medium (CM) of ARPE19 cells on Matrigel. Proteomics analysis showed that pigment epithelium-derived factor (PEDF) was one of the most abundant extracellular proteins in the ARPE19 CM, whereas enzyme-linked immunosorbent assay confirmed that large amounts of PEDF was secreted from ARPE19 cells. Adding anti-PEDF-blocking antibodies to the co-culture of HUCMSCs with ARPE19 cells increased apoptosis of HUCMSCs. Conversely, treatment with PEDF significantly reduced apoptosis and increased proliferation of HUCMSCs in serum-free medium. PEDF was further demonstrated to exert this anti-apoptotic effect by inhibiting P53 expression to suppress caspase activation. In vivo studies demonstrated that co-injection of HUCMSCs with ARPE19 cells in immunocompromised NOD-SCID mice also increased survival and decreased apoptosis of HUCMSCs. PEDF also showed no negative effect on the mesoderm differentiation capability of HUCMSCs. In conclusion, this study is the first to demonstrate that PEDF promotes HUCMSC proliferation and protects them from apoptosis by reducing p53 expression in the serum-free medium. This study provides crucial information for clinical-scale expansion of HUCMSCs.