The Newborn Screening Programme Revisited: An Expert Opinion on the Challenges of Rett Syndrome.

Genomic sequencing has the potential to revolutionise newborn screening (NBS) programmes. In 2024, Genomics England began to recruit for the Generation Study (GS), which uses whole genome sequencing (WGS) to detect genetic changes in 500 genes in more than 200 rare conditions. Ultimately, its purpose is to facilitate the earlier identification of rare conditions and thereby improve health-related outcomes for individuals.

Pediatric diffuse intrinsic pontine gliomas- a prospective observational study from a tertiary care neurosurgical center.

Introduction: Diffuse intrinsic pontine glioma (DIPG) in children comprises 80% of brainstem gliomas. In 2021, 5th edition of WHO CNS tumor classification defined H3K27M altered diffuse midline gliomas (DMGs) which replaced this entity. Lesion location precludes resection and the only current option available is radiotherapy.

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 systematic review of Automated prediction of sudden cardiac deathusing ECG signals.

Sudden Cardiac Death (SCD) stands as a life-threatening cardiac event capable of swiftly claiming lives. Researchers have devised numerous models aimed at automatically predicting SCD through a combination of diverse feature extraction techniques and classifiers. We did a rigorous review of research publications ranging from 2011 to 2023, with a specific focus on the automated prediction of SCD, a growing health concern on a global scale.

Pediatric Obesity's Effect on Open and Laparoscopic Appendectomy Outcomes.

 Pediatric obesity is a common comorbid condition that may complicate pediatric surgeries, such as appendectomy. Prior research on the consequences of obesity on pediatric appendectomy outcomes have been limited by small-sample sizes and pooled analyses that do not distinguish the effects of surgical approach. Associations between surgical approach, pediatric obesity, and postoperative appendectomy outcomes thus remain unclear.

How power and knowledge hierarchies affect communication in intrapartum care: findings from public health facilities in two southern Indian districts.

Background: Effective communication is a key element of medical care; it can foster a warm interpersonal relationship, facilitate the exchange of information, and enable shared decision-making. In the context of obstetric care, it is associated with a range of positive clinical and social outcomes for mother and baby. Extant communication frameworks and respectful maternity care (RMC) guidelines emphasize the importance of effective communication during intrapartum care.

A critical review of literature and a conceptual framework for organising and researching urban health and community health services in low- and middle-income countries.

Low- and middle-income countries (LMIC) are rapidly urbanizing, and in response to this, there is an expansion in the body of scholarship and significant policy interest in urban healthcare provision. The idea and the reality of 'urban advantage' has meant that health research in low- and middle-income countries (LMICs) has disproportionately focused on health and healthcare provision in rural contexts and is yet to sufficiently engage with urban health as actively. We contend that this research and practice can benefit from a more explicit engagement with the rich conceptual understandings that have emerged in other disciplines around the urban condition.

Comprehensive audit of gastrointestinal endoscopy adverse events: Emphasizing quality indicators and economic impact with the AIG-AGREE modification.

This study aimed to conduct a clinical audit of adverse events (AEs) arising from gastrointestinal endoscopy, utilizing the AGREE classification for AEs and establishing its correlation with the ASGE classification. This study further integrated the economic repercussions of AEs into the AGREE classification through the AIG-AGREE modification. A prospective observational study was conducted at the Asian Institute of Gastroenterology, Hyderabad, India, from July 1, 2021, to December 31, 2021.

A Comparative Study of Post Operative Pain Following Tonsillectomy with Local Infilteration of Dexamethasone vs Triamcinolone.

Tonsillectomy till date continues to be the most frequently performed surgery by ENT surgeons, and with that comes the most challenging complication of post-tonsillectomy pain and its management that affects the patient morbidity and alters the hospital course. Various methods and techniques have been implicated in the post-operative pain management in patients undergoing tonsillectomy. To compare the post operative pain following local infiltration of Dexamethasone and Triamcinolone in patients undergoing Tonsillectomy.

Using Precision Medicine to Disentangle Genotype-Phenotype Relationships in Twins with Rett Syndrome: A Case Report.

Rett syndrome (RTT) is a paediatric neurodevelopmental disorder spanning four developmental stages. This multi-system disorder offers a unique window to explore genotype-phenotype relationships in a disease model. However, genetic prognosticators of RTT have limited clinical value due to the disorder's heterogeneity on multiple levels.

DNA Methylation in Recurrent Glioblastomas: Increased TEM8 Expression Activates the Src/PI3K/AKT/GSK-3β/B-Catenin Pathway.

Background/aim: Glioblastomas (GBM) are infiltrative malignant brain tumors which mostly recur within a year's time following surgical resection and chemo-radiation therapy. Studies on glioblastoma cells following radio-chemotherapy, have been demonstrated to induce trans-differentiation, cellular plasticity, activation of DNA damage response and stemness. As glioblastomas are heterogenous tumors that develop treatment resistance and plasticity, we investigated if there exist genome-wide DNA methylation changes in recurrent tumors.

Identification and simultaneous quantification of potential genotoxic impurities in first-line HIV drug dolutegravir sodium using fast ultrasonication-assisted extraction method coupled with GC-MS and in-silico toxicity assessment.

Dolutegravir (DLG) has become a distinctive first-line antiretroviral therapy for the treatment of HIV in most countries due to its affordability, high efficacy, and low drug-drug interactions. However, the evaluation of genotoxic impurities (GTIs) in DLG and their toxicity assessment has not been explored thoroughly. Thus, in this study, a simple, fast, and selective analytical methodology was developed for the identification and determination of 7 GTIs in the comprehensive, explicit route of synthesis for the dolutegravir sodium (DLG-Na) drug.

Emerging role and translational potential of small extracellular vesicles in neuroscience.

Small extracellular vesicles (sEV) are endogenous lipid-bound membrane vesicles secreted by both prokaryotic and eukaryotic cells into the extracellular environment, performs several biological functions such as cell-cell communication, transfer of proteins, mRNA, and ncRNA to target cells in distant sites. Due to their role in molecular pathogenesis and its potential to deliver biological cargo to target cells, it has become a prominent area of interest in recent research in the field of Neuroscience. However, their role in neurological disorders, like neurodegenerative diseases is more complex and still unaddressed.

The Association Between Trajectories of Self-reported Psychotic Experiences and Continuity of Mental Health Care in a Longitudinal Cohort of Adolescents and Young Adults.

Background And Hypothesis: Young people (YP) with psychotic experiences (PE) have an increased risk of developing a psychiatric disorder. Therefore, knowledge on continuity of care from child and adolescent (CAMHS) to adult mental health services (AMHS) in relation to PE is important. Here, we investigated whether the self-reported trajectories of persistent PE were associated with likelihood of transition to AMHS and mental health outcomes.