An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty.

Infants with Sandhoff disease typically appear normal until 3-6 months of age. As the disease progresses, they present with symptoms such as loss of motor skills, exaggerated startle response to loud noise, seizures, visual loss, and paralysis. We encountered a rare case of a 22-month-old girl with Sandhoff disease characterized by progressive motor weakness and dysphagia, who initially showed signs of aspiration at 20 months of age. The major problems related to dysphagia were oromotor dysfunction and abnormal feeding posture. Within 3 months of identification of difficulty in swallowing, the patient showed a significant decrease in food intake, with rapid deterioration of nutritional status. We report our case with a review of the literature.

Electrical Detection of Pneumococcus through the Nanoparticle Decoration Method.

A simple method of nanoparticle decoration can be used in the detection of pneumococcus. After the pneumococcal bacteria were captured by an antibody (pneumococcal C-polysaccharide (PnC) antibody) between the interdigitated electrodes, the gold nanoparticles conjugated with the PnC antibodies were let to bind onto an outer membrane of the bacteria. Upon successfully dense decoration, the bacteria surface will become conductive owing to the metal nanoparticles, and a distinctive conductance change between the electrodes can be observed. Since this success ratio, or the probability of the conductance change, reflects the concentration of the analyte, a number of repeated measurements can be used in the quantification of the bacteria. In this way, we have successfully detected S. pneumoniae in the range of 10-108 CFU/mL. The limit of detection in this work is lower than that in the commercial detection kit. We hope that the nanoparticle decoration method will play a role in the facile detection of various bacteria.

Quantification of antigen by digital domain analysis of integrated nanogap biosensors.

Nanogap biosensor shows a distinct conduction change upon sandwich-type immobilization of gold nanoparticle probes onto the gap region in the presence of target biomolecules. Although this large conductance change could be advantageous in distinguishing signal on or off devices, since the extent of conductance change is quite irregular even at the same analyte concentrations, it fails to extract quantitative information from its level of conductance change. In other words, the conductance change of a single device does not reflect the concentration of the target molecule. In this study, we introduce an alternative approach of interpreting the concentration of target molecules using digital domain analysis of integrated nanogap devices, where the fraction of signal-on-devices, or on-device-percentage (ODP), was translated into the concentration of the target molecule. The ODP was found to be closely related to the number density of the immobilized probes and, therefore, to be an excellent measure of the analyte concentration, which was demonstrated in the immuno-selective detection and quantification of influenza A hemagglutinin and prostate specific antigen.

Effects of Overactive Bladder Symptoms in Stroke Patients' Health Related Quality of Life and Their Performance Scale.

OBJECTIVE: To identify the effects of overactive bladder (OAB) symptoms on the health-related quality of life (HRQOL) in stroke patients since OAB symptoms are common in such patients, but their effects on stroke rehabilitation over time are unclear. METHODS: This study included 30 post-acute stroke patients who had been admitted for rehabilitation treatments. All participants completed a questionnaire evaluating urinary symptoms, including the Overactive Bladder Symptom Score (OABSS) and general HRQOL with a Short-Form 36 (SF-36) health survey. We assessed their performance in terms of the Function Ambulation Category, Modified Rankin Scale (MRS), Modified Barthel Index, and Mini-Mental State Examination (MMSE). All assessments were carried out twice at baseline and at 3 months. We divided patients into an OAB and non-OAB group with OABSS. A correlation analysis and multivariate regression were then performed. RESULTS: All performance scales showed an improvement over 3 months in the non-OAB group (n=18; p<0.02), but, MRS and MMSE scores did not improve significantly in the OAB group (n=12) (p=0.15 and p=0.20, respectively). In the OAB group, the vitality and mental health scores significantly decreased over 3 months (p=0.011 and p=0,041, respectively), and the mental component summary (MCS) score showed a marginal decrease over 3 months (p=0.05). A multivariate regression analysis revealed that OAB symptoms were negatively correlated with the 3 months MCS score (B=-8.15, p=0.034). CONCLUSION: These results indicated that OAB symptoms could have negative effects on HRQOL and performance in patients suffering from a stroke.

Clinical Characteristics of Proper Robot-Assisted Gait Training Group in Non-ambulatory Subacute Stroke Patients.

OBJECTIVE: To identify the clinical characteristics of proper robot-assisted gait training group using exoskeletal locomotor devices in non-ambulatory subacute stroke patients. METHODS: A total of 38 stroke patients were enrolled in a 4-week robotic training protocol (2 sessions/day, 5 times/week). All subjects were evaluated for their general characteristics, Functional Ambulatory Classification (FAC), Fugl-Meyer Scale (FMS), Berg Balance Scale (BBS), Modified Rankin Scale (MRS), Modified Barthel Index (MBI), and Mini-Mental Status Examination (MMSE) at 0, 2, and 4 weeks. Statistical analysis were performed to determine significant clinical characteristics for improvement of gait function after robot-assisted gait training. RESULTS: Paired t-test showed that all functional parameters except MMSE were improved significantly (p<0.05). The duration of disease and baseline BBS score were significantly (p<0.05) correlated with FAC score in multiple regression models. Receiver operating characteristic (ROC) curve showed that a baseline BBS score of '9' was a cutoff value (AUC, 0.966; sensitivity, 91%-100%; specificity, 85%). By repeated-measures ANOVA, the differences in improved walking ability according to time were significant between group of patients who had baseline BBS score of '9' and those who did not have baseline BBS score of '9'. CONCLUSION: Our results showed that a baseline BBS score above '9' and a short duration of disease were highly correlated with improved walking ability after robot-assisted gait training. Therefore, baseline BBS and duration of disease should be considered clinically for gaining walking ability in robot-assisted training group.