Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy.

BACKGROUND AND OBJECTIVES: To describe the neurobehavioral phenotype of congenital myotonic dystrophy. Congenital myotonic dystrophy (CDM) is the most severe form of myotonic dystrophy, characterized by symptom presentation at birth and later, cognitive impairment, autistic features, and disordered sleep. METHODS: The neurobehavioral phenotype was assessed in this cross-sectional study by a neuropsychological battery consisting of the Wechsler Preschool and Primary Scale of Intelligence, Third Edition, Weschler Intelligence Scale for Children, Fourth Edition, Vineland Adaptive Behavior Scale, Second Edition (Vineland-II), Behavior Rating Inventory of Executive Function including preschool and teacher reports, Autism Spectrum Screening Questionnaire, Social Communication Scale, and Repetitive Behavior Scale-Revised. Sleep quality was evaluated with the Pediatric Sleep Questionnaire and Pediatric Daytime Sleepiness Scale. RESULTS: Fifty-five children with CDM, ages 5 weeks to 14 years, were enrolled. The mean age and (CTG)n repeats (±SD) were 6.4 ± 3.8 years and 1,263 ± 432, respectively. The mean IQ was 64.1 ± 14.9 on the Weschler scales with 65.6% of participants falling in the extremely low range for IQ. Adaptive functioning was significantly low for 57.1% of participants (n = 20). Caregiver report of executive functioning indicated 23.1% (9/39) of participants had clinically elevated levels of dysfunction, though teacher report was discrepant and indicated 53.3% of participants with CDM fell in this range (8/15). Spearman correlations were strongly positive (p ≤ 0.05) for estimated full scale IQ, overall adaptive functioning and with daily living and socialization domain standard scores on the Vineland-II ranging from r = 0.719 to r = 0.849 for all ages. Aspects of executive function were directly related to features of autism and sleep quality. Social communication was inversely related to all aspects of daily functioning, except communication, and directly related to aspects of autism behavior. DISCUSSION: Depressed IQ, adaptive skills, and executive functioning, poor sleep quality, and features of autism and altered social functioning individually describe different aspects of the neurobehavioral phenotype in CDM. These neurobehavioral and sleep measures could help quantitatively measure and assess the burden of cognitive impairment in CDM.

Vibrating colon-stimulating capsule to treat chronic constipation: A systematic review.

In August 2022, the United States Food and Drug Administration issued marketing authorization for an orally administered vibrating colon-stimulating capsule for treating chronic idiopathic constipation. We aimed to review the literature systematically and synthesize evidence on the role of the vibrating capsule in chronic idiopathic constipation. A comprehensive search was conducted on PubMed, Embase, International Clinical Trials Registry Platform (World Health Organization), Cochrane Library databases, and two pre-print servers (medRxiv.org and Research Square) until 31 December 2022, to identify published pre-clinical and clinical original studies evaluating the role of the vibrating capsule in patients with chronic constipation. The studies were critically analyzed, and data were extracted. We identified thirty-three articles and five studies (one pre-clinical, one combined, and three clinical). The pre-clinical studies in dogs revealed no adverse effects of the vibrating capsule. In the clinical studies, there were significant findings observed. The number of spontaneous bowel movements per week and the proportion of patients experiencing an increase of at least one complete spontaneous bowel movement per week were both significantly higher in the group receiving the vibrating capsule compared to the group receiving the sham capsule. No treatment-related serious adverse event was noted. The mild adverse events were vibration sensation, diarrhea, and abdominal discomfort. The efficacy and safety profiles of the vibrating colon-stimulating capsule in treating patients with chronic constipation are promising. However, more robust evidence is required by conducting large randomized clinical trials before conclusively determining its wider use.

Analysis of the Trends of Methicillin-Resistant Staphylococcus aureus in Gauteng Public Hospitals from 2009 to 2018.

Most investigations into the distribution of methicillin resistant Staphylococcus aureus (MRSA) have focused exclusively on bloodborne infections within individual health care institutions for shorter time periods. This has limited the analysis of a community-spread pathogen to snapshots within the hospital domain. Therefore, in this study we determined the demographic and geographical patterns of MRSA infections and their fluctuation in 10 years within all public hospitals in Gauteng, South Africa. A retrospective analysis of S. aureus samples was done by deduplicating samples in two groups. The sample groups were placed into subsets with respect to demographic and geographical fields and compared across the studied period. Logistic regression was utilized to determine odds ratios for resistant infections in univariate and multivariable configurations. A total of 66,071 unique infectious events were identified from the 148,065 samples received over a 10-year period, out of which 14,356 were identified as bacteremia. MRSA bacteremia rates in Gauteng peaked in 2015 and have since decreased. Within Gauteng, metropolitan areas have the greatest burden of MRSA with children under 5 years of age and males being most affected. Medical wards have the highest S. aureus bacteremia rates, while intensive care units have the highest MRSA bacteremia rates. Patient age, admitting ward, and geographical district are the most important associated factors of resistance. MRSA acquisition rates have shown tremendous growth since 2009 but have since spiked and subsequently decreased. This may be due to the initiation of the National Guidelines on Antimicrobial Stewardship and Infectious Disease Surveillance. Further studies to determine the trajectory of infections are required to support these claims. IMPORTANCE S. aureus is the leading cause of a variety of devastating clinical conditions, including infective endocarditis, bacteremia, and pleuropulmonary infections. It is an important pathogen responsible for substantial morbidity and mortality. MRSA is a variant of interest originally responsible for difficult to treat hospital-acquired infections that has since achieved community spread throughout the world. Most investigations into the distribution of MRSA have focused exclusively on bloodborne infections within individual health care institutions for shorter periods. This has limited the analysis of a community-spread pathogen to snapshots within the hospital domain. This study sought to determine the demographic and geographical patterns of MRSA infections as well as how these have fluctuated over time within all public hospitals. This will also help in understanding the epidemiology and resistance trends of S. aureus, which will help clinicians to understand the clinical prospective and policy makers to design guidelines and strategies for treating such infections.

Vaccine hesitancy among the nursing officers working in a tertiary care hospital, Puducherry - A mixed-method study.

Background: Vaccination was considered one of the vital moves in controlling the spread of highly infectious COVID-19 pandemic. But, the initial acceptance level was highly improbable among nursing professionals (57%) in India.1 Thus, it was necessary to explore the reasons behind this reluctance, as they can act as trusted advisors for general population in decision-making. Objectives: This study aimed to determine the proportion of nursing officers with COVID- 19 vaccine hesitancy during the phase one drive (15th January to 28th February 2021) of vaccination and the various factors contributing to it. Methods: A cross-sectional analytical mixed-method study was done among 422 nursing officers working in a tertiary care hospital, Puducherry. Data was collected using a pretested semi-structured questionnaire along with WHO -SAGE Vaccine Hesitancy Scale for the quantitative component and an interview guide for qualitative part. Results: More than half of the participants were found to be COVID- 19 vaccine hesitant based on the operational definition, with fear of side effects being the most reported reason. Factors like work experience of five years or less, previous history of COVID- 19 infection, and delayed receipt of the first dose of the vaccine were significantly associated with vaccine hesitancy. Conclusion: Improper flow of evidence-based information was identified as one of the major concerns related to vaccine acceptance. Measures should be taken for proper awareness generation through dependable channels and at the same time for the prevention of spread of infodemics pertaining to the new interventions for better penetration and utilization.

Food portion size educational programme in a workplace setting in Puducherry - Is it effective?

BACKGROUND: Consuming larger portion sizes, i.e., in excess of a typically recommended serving size, has been attributed to the obesity epidemic. The workplace acts as an efficient target for health promotion activities. AIMS: To assess the effectiveness of a food portion size educational programme in increasing knowledge among the employees of a software company in Puducherry. METHODOLOGY: An interventional study was conducted with a pre-post design. A single group of software company employees (N = 120), age ≥30 years selected by simple random sampling was included in the study. The intervention consisted of a health education programme on the portion sizes of common food items including fruits and vegetables. A self-administered questionnaire was used to collect information on personal and sociodemographic details. Self-regulation on eating was assessed using the Self-Regulation of Eating Behaviour Questionnaire (SREBQ). RESULTS: The mean age of the study participants was 27 ± 5 years. Most of the participants were males, i.e., 72 (60%). Of the total, 55 (47.8%) participants were obese and 18 (15.7%) were overweight. The median number of meals and snacks consumed by the participants was 3 (1-3) and 1 (1-2), respectively. The median (interquartile range [IQR]) knowledge scores of the food portion size significantly increased from 9 (0-16) to 14 (5-19) (P < 0.05). CONCLUSIONS: This study has demonstrated that an educational intervention in the workplace setting is feasible and effective in increasing the knowledge of food portion size over a short term.

Effectiveness of nutrition education in improving fruit and vegetable consumption among selected college students in urban Puducherry, South India. A pre-post intervention study.

OBJECTIVES: World Health Organization (WHO) suggests intake of five servings (400 g) of fruits and vegetables (F&V) per day to ensure an adequate dietary fibre and to reduce the risk of non-communicable diseases. Risk factor survey of Non-Communicable Diseases (2007-08), reports that only 1% population in Tamil Nadu, South India consumed more than five servings a day. So we aimed to assess the effectiveness of nutrition education in improving the daily intake of fruit and vegetable servings and stage of behaviour change among college students. METHODS: A pre-post intervention study was conducted among undergraduate students from two selected women's colleges in urban Puducherry, South India during September-October 2019. The two English departments were randomly allocated into intervention group (IG), control group (CG) and 75 students in each group were chosen by systematic random sampling. IG received 30 min of nutrition education programme; which includes importance and minimum daily intake of fruits & vegetables, local availability, cost and awareness about myths and misconceptions. CG received pamphlets regarding healthy dietary intake. Knowledge regarding portion sizes, average daily servings of fruit & vegetable intake and stage of behaviour change were assessed at baseline and after one month of intervention. RESULTS: There was a significant increase in knowledge regarding portion sizes (28- 64%) after intervention in IG (p<0.001) compared to CG (24- 40%). The knowledge regarding the required number of servings of fruits (27-56%) and vegetables (15-58%) also increased significantly (p<0.001) in the IG. Intake of fruits, vegetables and juices in the last 24 h were significantly increased in IG compared to CG (p<0.001). There was a significant increase (p=0.002) in contemplation and preparation stage (13-34%) in IG after intervention. CONCLUSIONS: A well designed nutrition education programme is an effective tool in promoting healthy eating habits among adolescents. It enabled a significant increase in knowledge regarding portion sizes of F&V and daily intake of fruits and vegetables.

The Influence of Carrier Oils on the Antimicrobial Activity and Cytotoxicity of Essential Oils.

The topical use of essential oils requires dilution into a carrier oil; however, scientific evidence regarding the antimicrobial efficacy and cytotoxicity when a carrier oil is combined with an essential oil is lacking. This study sets out to determine the antimicrobial activity and cytotoxicity of 23 essential oils combined with six known carrier oils. Gas chromatography-mass spectrometry/flame ionization detector (GC-MS/FID) was used to characterize the methyl esters of the carrier oils. The antimicrobial activity of the carrier oils alone and in combination with the essential oils was investigated using the broth microdilution assay against 11 skin pathogens and the cytotoxicity was determined using the brine shrimp lethality assay. The interactive profiles of the combinations for both antimicrobial activity and the cytotoxicity were analysed and calculated using the fractional inhibitory concentration index (ΣFIC). The carrier oils demonstrated no antimicrobial antagonism when combined with the essential oils and the overall cytotoxicity of the majority of the combinations was decreased. The carrier oils that could be identified as enhancing the antimicrobial activity and decreasing the cytotoxicity were Aloe vera Mill. and Simmondsia chinensis C.K.Schneid (Jojoba oil), with an overall reduction in essential oil cytotoxicity of 87.5% at 24 hrs and 85% at 48 hrs by A. vera. Five of the essential oils (when diluted in A. vera and S. chinensis carrier oils) demonstrated enhanced antimicrobial activity against pathogens such as Brevibacterium epidermidis, B. linens, and P. aeruginosa with MIC values ranging from 0.09 to 0.50 mg/mL (and ΣFIC 0.14-0.39). The study could conclude that the carrier oils are complementary to essential oil formulations, mostly reducing cytotoxicity and in some cases enhancing the antimicrobial activity.

Emergent Synergistic Grasp-Like Behavior in a Visuomotor Joint Action Task: Evidence for Internal Forward Models as Building Blocks of Human Interactions.

Central to the mechanistic understanding of the human mind is to clarify how cognitive functions arise from simpler sensory and motor functions. A longstanding assumption is that forward models used by sensorimotor control to anticipate actions also serve to incorporate other people's actions and intentions, and give rise to sensorimotor interactions between people, and even abstract forms of interactions. That is, forward models could aid core aspects of human social cognition. To test whether forward models can be used to coordinate interactions, here we measured the movements of pairs of participants in a novel joint action task. For the task they collaborated to lift an object, each of them using fingers of one hand to push against the object from opposite sides, just like a single person would use two hands to grasp the object bimanually. Perturbations of the object were applied randomly as they are known to impact grasp-specific movement components in common grasping tasks. We found that co-actors quickly learned to make grasp-like movements with grasp components that showed coordination on average based on action observation of peak deviation and velocity of their partner's trajectories. Our data suggest that co-actors adopted pre-existing bimanual grasp programs for their own body to use forward models of their partner's effectors. This is consistent with the long-held assumption that human higher-order cognitive functions may take advantage of sensorimotor forward models to plan social behavior. New and Noteworthy: Taking an approach of sensorimotor neuroscience, our work provides evidence for a long-held belief that the coordination of physical as well as abstract interactions between people originates from certain sensorimotor control processes that form mental representations of people's bodies and actions, called forward models. With a new joint action paradigm and several new analysis approaches we show that, indeed, people coordinate each other's interactions based on forward models and mutual action observation.

A Modified Definition for Obstructive Sleep Apnea in Home Sleep Apnea Testing after Stroke or Transient Ischemic Attack.

BACKGROUND: Home sleep apnea testing (HSAT) underestimates obstructive sleep apnea (OSA) severity. Overnight oxygen desaturation has been shown to be a strong predictor of incident stroke, and may be helpful in determining which patients with lower apnea-hypopnea indices (AHIs) should be offered treatment. OBJECTIVES: To examine whether a modified definition for OSA that uses oxygen desaturation (i.e., AHI 5-14.9 per hour and lowest O2 desaturation ≤88%), as compared to an AHI ≥ 15 per hour, would impact: (1) changes in Epworth Sleepiness Scale scores post-continuous positive airway pressure (CPAP) initiation; (2) CPAP compliance rates; and (3) the accuracy of automated versus manual scoring of HSAT. METHODS: One hundred and six patients with a prior stroke or transient ischemic attack (TIA) underwent HSAT. Epworth Sleepiness Scale and CPAP compliance were measured at baseline and 3-6 months. RESULTS: Median age was 67.5 years, 57.5% male, and 76.4% presented with stroke. Fifty-nine patients were diagnosed with OSA; of these 54.2% met criteria for the "modified definition" for OSA (AHI 5-14.9 per hour with oxygen desaturation) and 45.8% met criteria for the "classic definition" for OSA (AHI ≥15). The modified (versus classic) definition had: (1) a greater decrease in ESS (P = .05) post-CPAP initiation; (2) comparable CPAP compliance rates; and (3) comparable automatically versus manually scored AHIs (Spearman's rho = .96, Cohen's Kappa ≥ .75 for both definitions, P < .001). CONCLUSIONS: Using a modified definition of OSA that uses a lower AHI cutoff and includes an oxygen desaturation cutoff in the setting of HSAT for stroke or transient ischemic attack (TIA) patients may improve daytime sleepiness post-CPAP initiation, while not significantly affecting CPAP compliance rates nor the accuracy of automated scoring.

Interactions between branched DNAs and peptide inhibitors of DNA repair.

The RecG helicase of Escherichia coli unwinds both Holliday junction (HJ) and replication fork DNA substrates. Our lab previously identified and characterized peptides (WRWYCR and KWWCRW) that block the activity of RecG on these substrates. We determined that the peptides bind HJ DNA and prevent the binding of RecG. Herein, we present further evidence that the peptides are competitive inhibitors of RecG binding to its substrates. We have generated structural models of interactions between WRWYCR and a junction substrate. Using the fluorescent probe 2-aminopurine, we show that inhibitors interact with highest affinity with HJs (K(d) = 14 nM) and approximately 4- to 9-fold more weakly with replication fork substrates. The fluorescence assay results agree with the structural model, and predict the molecular basis for interactions between HJ-trapping peptides and branched DNA molecules. Specifically, aromatic amino acids in the peptides stack with bases at the center of the DNA substrates. These interactions are stabilized by hydrogen bonds to the DNA and by intrapeptide interactions. These peptides inhibit several proteins involved in DNA repair in addition to RecG, have been useful as tools to dissect recombination, and possess antibiotic activity. Greater understanding of the peptides' mechanism of action will further increase their utility.