International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA.

Introduction: The clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.

Methods: Clinical outcome assessments for the top 10 priority domains identified in the Voice of the Patient Report for Rett syndrome were compiled and available psychometric data were extracted.

A review of neurogenetics in fetal and neonatal clinical medicine.

This review of neurogenetics serves as a primer for clinicians practicing in fetal-neonatal medicine. The review provides an update on neurogenetics, understanding the language of genetics, genetic testing approaches, and interpretation of genetic test results. Common examples of neurogenetic disease in fetal-neonatal medicine are used to enhance basic concepts.

An inborn error of metabolism presenting with apparently isolated subacute neuropsychiatric symptoms in an adolescent.

We discuss a previously healthy adolescent male presenting with subacute neuropsychiatric issues, tremors, hyperreflexia, and hypertension. Laboratory studies revealed acute on chronic kidney disease. Additional investigations yielded a treatable late-onset inborn error of metabolism (IEM).

Clinical Features and Disease Progression in Older Individuals with Rett Syndrome.

Although long-term survival in Rett syndrome (RTT) has been observed, limited information on older people with RTT exists. We hypothesized that increased longevity in RTT would be associated with genetic variants in associated with milder severity, and that clinical features would not be static in older individuals. To address these hypotheses, we compared the distribution of variants and clinical severity between younger individuals with Classic RTT (under 30 years old) and older individuals (over 30 years old).

Implementing heuristic-based multiscale depth-wise separable adaptive temporal convolutional network for ambient air quality prediction using real time data.

In many emerging nations, rapid industrialization and urbanization have led to heightened levels of air pollution. This sudden rise in air pollution, which affects global sustainability and human health, has become a significant concern for citizens and governments. While most current methods for predicting air quality rely on shallow models and often yield unsatisfactory results, our study explores a deep architectural model for forecasting air quality.

Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS).

Rett syndrome is a severe neurodevelopmental disorder that affects about 1 in 10,000 females. Clinical trials of disease modifying therapies are on the rise, but there are few psychometrically sound caregiver-reported outcome measures available to assess treatment benefit. We report on a new caregiver-reported outcome measure, the Rett Caregiver Assessment of Symptom Severity (RCASS).

Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail.

Compound heterozygous variants within two conserved sialyltransferase motifs of cause GM3 synthase deficiency.

GM3 synthase deficiency (GM3SD) is caused by biallelic variants in . The ganglioside GM3, enriched in neuronal tissues, is a component of lipid rafts and regulates numerous signaling pathways. Affected individuals with GM3SD exhibit global developmental delay, progressive microcephaly, and dyskinetic movements.

Palatal Coupling Maneuvers Do Not Predict Hypoglossal Nerve Stimulator Treatment Efficacy.

Objective(s): Maneuvers during drug-induced sleep endoscopy (DISE), for patients with obstructive sleep apnea (OSA), have been used as predictors for success with oral appliances. Hypoglossal nerve stimulation (HGNS) promotes opening at the velum through palatoglossus coupling. In this study, we evaluate maneuvers during DISE as predictors for HGNS treatment efficacy.

Transvenous Phrenic Nerve Stimulation for Central Sleep Apnea.

RespiCardia remedē System (Minnetonka, MN 2017), a transvenous phrenic nerve stimulator, is indicated to treat central sleep apnea (CSA) by stimulating the phrenic nerve to cause diaphragmatic contraction to restore normal breathing during sleep. CSA is associated with decreased patient quality of life and worsens cardiovascular outcomes. Systematic review was conducted according to the Preferred Reporting of Systematic Reviews and Meta-Analysis guidelines.

Assessing Postoperative Recovery With Volatile Gas Versus Total Intravenous Anesthesia in Patients With and Without Obstructive Sleep Apnea.

Introduction: To determine if there is a recovery time difference between patients with and without obstructive sleep apnea (OSA) when using total intravenous anesthesia (TIVA) compared to volatile gas inhalational anesthesia.

Patients And Methods: OSA and Non-OSA patients were identified at a tertiary institution between January 2019 and November 2020. Non-OSA patients were defined as those who have not been formerly diagnosed with OSA.

Cost of Total Intravenous Anesthesia Versus Inhalation Anesthesia in Obstructive Sleep Apnea Surgery.

Objectives: To compare cost and time spent in surgical and postoperative courses in patients with obstructive sleep apnea (OSA) undergoing surgery with either total intravenous anesthesia (TIVA) or inhalational anesthesia.

Study Design: Retrospective chart review.

Methods: Retrospective review on patients undergoing surgery for OSA under general anesthesia from January 2019 to October 2020.

Reduced gastroesophageal reflux disease symptom severity following upper airway surgery for comorbid obstructive sleep apnea.

Purpose: To evaluate patient-reported quality of life pertaining to gastroesophageal reflux disease symptoms in patients undergoing upper airway surgery for comorbid obstructive sleep apnea.

Materials And Methods: A prospective survey-based study was conducted on patients with gastroesophageal reflux disease and comorbid obstructive sleep apnea receiving surgery from July 2020-December 2020. Patients completed the Gastroesophageal Reflux Disease-Health Related Quality of Life Questionnaire at two time-points: one week before surgery and at 6 months following surgery.

Digital Resilience Biomarkers for Personalized Health Maintenance and Disease Prevention.

Health maintenance and disease prevention strategies become increasingly prioritized with increasing health and economic burden of chronic, lifestyle-related diseases. A key element in these strategies is the empowerment of individuals to control their health. Self-measurement plays an essential role in achieving such empowerment.

Incidence and predictors of comorbid insomnia in a sleep surgery clinic.

Study Objectives: The objective was to determine the prevalence and predictors of comorbid insomnia in patients presenting for sleep surgery evaluation. The insomnia severity index (ISI) was utilized to evaluate patients' insomnia severity.

Methods: A retrospective chart review was performed in patients presenting to an otolaryngology sleep surgery clinic; patients also completed a sleep history questionnaire.

Enhanced visible light-driven photocatalytic performance of CdSe nanorods.

Cadmium selenide (CdSe) semiconductor nanorods are prepared in hydrothermal process using hydrazine hydrate (NH.HO) and ammonia (NH.HO) as reducing agents.

Recent advances in valorization of organic municipal waste into energy using biorefinery approach, environment and economic analysis.

Researcher's all around works on a copious technique to lessen waste production and superintend the waste management for long-term socio-economic and environmental benefits. Value-added products can be produced from municipal waste by using holistic and integrated approaches. In this review, a detail about the superiority of the different methods like anaerobic digestion, biofuel production, incineration, pyrolysis and gasification were used for the conversion of municipal waste to feedstock for alternate energy and its economic- environmental impacts were consolidated.

Neuromodulators for Atypical Facial Pain and Neuralgias: A Systematic Review and Meta-Analysis.

Objective: To evaluate the effectiveness of neuromodulating agents for the management of atypical facial pain and primary facial neuralgias.

Methods: We searched MEDLINE, Embase, CINAHL, and ClinicalTrials.gov databases for original research articles that examine the effectiveness and adverse reactions of pharmacologic therapy for the treatment of trigeminal neuralgia and atypical facial pain.

High-Speed Super-Resolution Imaging Using Protein-Assisted DNA-PAINT.

Super-resolution imaging allows for the visualization of cellular structures on a nanoscale level. DNA-PAINT (DNA point accumulation in nanoscale topology) is a super-resolution method that depends on the binding and unbinding of DNA imager strands. The current DNA-PAINT technique suffers from slow acquisition due to the low binding rate of the imager strands.

Design, Synthesis, and Biological Evaluation of 2-(2-Bromo-3-nitrophenyl)-5-phenyl-1,3,4-oxadiazole Derivatives as Possible Anti-Breast Cancer Agents.

Breast Cancer (BCa) is the most often diagnosed cancer among women who were in the late 1940's. Breast cancer growth is largely dependent on the expression of estrogen and progesterone receptor. Breast cancer cells may have one, both, or none of these receptors.