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0068 Effect of Duchenne muscular dystrophy on sleep-dependent consolidation of episodic memory: Pilot
Introduction About 50% of patients with Duchenne muscular dystrophy (DMD) exhibit learning and memory deficits. Sleep issues are also common in DMD, and their potential relevance to cognitive deficits is unexplored. In this pilot study, we investigate the effect of DMD on sleep-dependent consolidation of episodic memory, with a focus on the role of sleep-brain dynamics. Methods We studied boys aged 6–15 years who were typically developing (TD) or had DMD. First, we compared memory performance in an episodic memory task during a day of wake versus a night of sleep within subjects (Phase 1, n = 13), including a one-week sleep diary, and parent-rated, memory, and cognitive assessments. In Phase 2, we measured memory improvement in the same task across a night with polysomnography (24 head electrodes). Sleep was scored with AASM criteria. Slow oscillations (SO) (0.5-1.5 Hz) and spindles (10-16Hz) were detected algorithmically, assessing density, amplitude, and coordination. Results In Phase 1, data confirmed sleep-specific gains in memory performance when task difficulty was adjusted to our extended age range (mean accuracy change: 7% sleep, 0% wake). The DMD participant in Phase 1 exhibited worse immediate recall compared to TD peers (independent samples t-test; t(9) = -4.38, p =.02) and worse parent-rated sleep habits (t(9) = 4.01, p = .03 on Children Sleep Health Questionnaire). Phase 2 showed a physiological range of SOs and spindles density, amplitude, and duration in both groups, with potential differences in overall sleep quality. Conclusion This pilot study established the feasibility of a sleep-memory experiment including polysomnography in controls and DMD patients in the context of a pediatric research hospital. Data suggests the need for adaptive recruitment approaches for the DMD population in expanding the study. Sleep EEG analysis suggests the potential for subtle differences in DMD sleep brain dynamics that need to be investigated in a larger sample size. Support (if any) Center for Clinical and Translational Science voucher support to MW and Neurodevelopmental Research Affinity Group Pilot Award to PM
Journal Article
Fame
Passions will be tested and young hearts will be broken. Ultimately, talent, dedication and hard work will triumph. Centers around a group of dancers, singers, musicians and actors at the New York City High School of Performing Arts, and their spirited drive to live out their dreams of stardom. In an incredibly competitive atmosphere, each student must shine amidst the tumult of school work, deep friendships, budding romance and self-discovery.
DVD
Vitamin D status and associated factors among HIV-infected children and adolescents on antiretroviral therapy in Kampala, Uganda
A high prevalence of suboptimal serum vitamin D has been reported among HIV infected children even in countries with high sunshine abundance throughout the year. Vitamin D is a potent immune modulator of innate and adaptive immune responses. Vitamin D regulates immune responses through the vitamin D receptor on CD4 cells. We aimed to determine the vitamin D status of HIV infected children and factors associated with suboptimal vitamin D. This was a cross sectional study. We enrolled children aged between 6 months and 12 years attending an outpatient paediatric HIV clinic. Serum 25-hydroxyvitamin D (25(OH)D) was measured using the electrochemoluminisence method. Suboptimal vitamin D was defined as 25(OH)D <30 ng/ml, vitamin D insufficiency and deficiency were 21-29 ng/ml and <20 ng/ml respectively. Anthropometry, physical exam and medical history were documented. Logistic regression was performed. We enrolled 376 children with mean age (sd) 8.05 years (3.03), a median (IQR) duration of ART of 5.9 years (3.2-8.4). Majority of the children (64%) had been exposed to non nucleoside reverse transcriptase inhibitors (NNRTIs). A third were severely immunosuppressed (CD4% [less than or equal to]15%) at ART initiation. At the time of the study, the majority (89%) were virologically suppressed (VL <1000 copies/ml). Prevalence of 25(OH)D <30 ng/ml was 49 (13%) of 375 participants and 11 (3%) had 25(OH)D <20 ng/ml. Lopinavir/ritonavir regimen was independently associated with 25(OH)D <30 ng/ml; OR 0.27 CI (0.13-0.57), p value-0.002. Serum 25(OH)D <20 ng/ml was associated with CD4 count [less than or equal to]15% at ART initiation OR 6.55(1.30-32.9), p value-0.023 and use of NNRTIs; OR 10.9(1.22-96.2), p value-0.03. We found a low prevalence of suboptimal vitamin D compared to earlier reports. Severe immunosuppression at ART initiation and use of NNRTIs increases odds of deficiency. Vitamin D supplementation should be considered in severely immunosuppressed children initiating ART.
Journal Article
India: The Last and Best Frontier for Cystic Fibrosis Newborn Screening with Perspectives on Special Challenges
Because a delayed diagnosis of cystic fibrosis (CF) is detrimental and may be fatal, screening at birth has become routine in the Western world and has proven beneficial for many reasons, in addition to enabling prompt specialized care. Newborn screening (NBS) programs have elucidated the true incidence of CF in a variety of populations and enabled rapid genotype identification through the analysis of the cystic fibrosis transmembrane regulator (CFTR) gene. NBS studies also have revealed regional and population differences in CFTR variants and refuted the dogma that CF is a “white person’s disease”. But some regions have not yet implemented CF NBS, particularly in Asia where the disease prevalence has been uncertain. While the needs of a few low-and-middle-income countries are being addressed sequentially, one of the regions of greatest current interest is the Indian subcontinent because of recent data suggesting a higher incidence than that previously assumed, and clinical observations indicating tragic outcomes due to delayed diagnoses or failure to diagnose the disorder in young children. Thus, we conclude that the opportunities for research combined with service in the Indian subcontinent are urgent and potentially very impactful. Consequently, India is the last and best frontier for CF NBS, as we argue herein.
Journal Article
Exceptionally High Cystic Fibrosis-Related Morbidity and Mortality in Infants and Young Children in India: The Need for Newborn Screening and CF-Specific Capacity Building
Early diagnosis of cystic fibrosis (CF) through newborn screening (NBS) improves clinical outcomes, but in countries like India, delayed diagnosis increases morbidity, mortality, and likely underestimates infant deaths from CF. We performed a retrospective study at a single center in south India from 2017 to 2025 reviewing children diagnosed with CF before one year of age. Patient demographic, clinical, and genetic data were analyzed to characterize early clinical features and identify factors linked to mortality. Of 56 infants diagnosed with CF, 59% survived (median current age 55 months) while 41% died (median age of death 5 months). Key clinical indicators included sibling death with CF-like symptoms, rapid weight loss, and persistent respiratory or nutritional complications. Mortality risk under one year was significantly linked to hypoalbuminemia (OR 9.7), severe malnutrition (OR 4.4), severe anemia (hemoglobin < 7 g/dL) requiring blood transfusions (OR 3.0), and peripheral edema (OR 4.2). A triad of anemia, hypoalbuminemia, and edema was found to strongly predict death (OR 4.2). Integrating clinical checklists of these manifestations into primary healthcare may improve prompt referrals for earlier diagnosis and treatment. Continued education and advocacy for NBS are essential to reduce potentially preventable CF-related deaths in young children.
Journal Article
Challenges and Opportunities for Conducting Dynamic Risk Assessments in Medical IoT
Modern medical devices connected to public and private networks require additional layers of communication and management to effectively and securely treat remote patients. Wearable medical devices, for example, can detect position, movement, and vital signs; such data help improve the quality of care for patients, even when they are not close to a medical doctor or caregiver. In healthcare environments, these devices are called Medical Internet-of-Things (MIoT), which have security as a critical requirement. To protect users, traditional risk assessment (RA) methods can be periodically carried out to identify potential security risks. However, such methods are not suitable to manage sophisticated cyber-attacks happening in near real-time. That is the reason why dynamic RA (DRA) approaches are emerging to tackle the inherent risks to patients employing MIoT as wearable devices. This paper presents a systematic literature review of RA in MIoT that analyses the current trends and existing approaches in this field. From our review, we first observe the significant ways to mitigate the impact of unauthorised intrusions and protect end-users from the leakage of personal data and ensure uninterrupted device usage. Second, we identify the important research directions for DRA that must address the challenges posed by dynamic infrastructures and uncertain attack surfaces in order to better protect users and thwart cyber-attacks before they harm personal (e.g., patients’ home) and institutional (e.g., hospital or health clinic) networks.
Journal Article
Respiratory syncytial virus: current and emerging treatment options
Respiratory syncytial virus (RSV) is an important respiratory pathogen in infants and children worldwide. Although RSV typically causes mild upper respiratory infections, it frequently causes severe morbidity and mortality, especially in premature infants and children with other chronic diseases. Treatment of RSV is limited by a lack of effective antiviral treatments; however, ribavirin has been used in complicated cases, along with the addition of intravenous immune globulin in specific patients. Vaccination strategies for RSV prevention are heavily studied, but only palivizumab (Synagis(®)) has been approved for use in the United States in very select patient populations. Research is ongoing in developing additional vaccines, along with alternative therapies that may help prevent or decrease the severity of RSV infections in infants and children. To date, we have not seen a decrement in RSV morbidity and mortality with our current options; therefore, there is a clear need for novel RSV preventative and therapeutic strategies. In this review, we discuss the current and evolving trends in RSV treatment for infants and children.
Journal Article
Evaluation of the reactive oxygen metabolite levels in plasma, gingival crevicular fluid, and saliva in generalized chronic periodontitis patients before and after nonsurgical periodontal therapy: A case–control and interventional study
Reactive oxygen metabolites (ROMs) produced in periodontitis could contribute to excessive tissue damage. Thus, treatment of chronic periodontitis may decrease the ROM levels. The aim of this study is to evaluate the ROM levels in plasma, saliva, and gingival crevicular fluid (GCF) in generalized chronic periodontitis (GCP) patients before and after nonsurgical periodontal treatment.
Two groups were included in this study. Group I consisted of 30 healthy controls (C) and Group II consisted of 30 subjects with GCP. Plaque index (PI), papillary bleeding index, Probing Depth (PD), and clinical attachment level were recorded. GCF, saliva, and plasma samples were collected from both groups. ROM levels were assessed. A baseline comparison was made between the two groups. Nonsurgical periodontal treatment was carried out for Group II subjects. Two months posttreatment, the clinical parameters and ROM levels in GCF, saliva, and plasma were reassessed in Group II, and the data were compared with their baseline values. Statistical analysis was done using SPSS 20 software and results were derived.
Two months posttreatment, Group II exhibited significant reduction in ROM levels in plasma, saliva, and GCF with significant decrease in PI, bleeding on probing, probing depth, and attachment loss.
Thus, significant oxidative stress may occur in chronic periodontitis and nonsurgical periodontal therapy may be regarded as an effective treatment modality to treat the diseased periodontium, thereby preventing possible systemic diseases in future.
Journal Article