The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes in Rare Disease: A Pilot Study of Goal Attainment Scaling in SCN2A-Associated Developmental Epileptic Encephalopathy.

Objectives: For individuals living with rare neurodevelopmental disorders, especially those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes. Personalized endpoints such as Goal Attainment Scaling (GAS) allow the assessment of treatment response across variable baseline states and disease manifestations and thus provide a highly sensitive measure of efficacy. The current study tested the feasibility of using GAS in rare SCN2A-associated developmental and epileptic encephalopathy (SCN2A-DEE).

Use of Basket Trials to Solve Sleep Problems in Patients with Rare Diseases.

The need for sleep is universal, and the ability to meet this need impacts the quality of life for patients, families, and caregivers. Although substantial progress has been made in treating rare diseases, many patients have unmet medical sleep needs, and current regulatory policy makes it prohibitively difficult to address those needs medically. This opinion reviews the rare disease experience with sleep disorders and explores potential solutions.

Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials.

Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of intellectual disability. This effectively excludes those with severe impairments from clinical trials, impeding the ability of sponsors to evaluate disease-modifying therapies (DMTs). The Inchstone Project, an international, patient advocate-led collaboration, brings together leading researchers, clinicians, pharmaceutical companies, and advocates to develop an adapted, validated assessment battery within 5 years.

Gram-Negative Bloodstream Infections in Healthcare: The Relationship Between Antibiotic Resistance, Mortality, and Novel Serological Biomarker.

Background: Bloodstream infections caused by Gram-negative bacteria are highly mortal. In this study, we aimed to investigate the relationship between antimicrobial resistance profile and novel serological biomarkers and mortality in bloodstream infections (BSIs) caused by Gram-negative bacteria in intensive care units (ICUs).

Methods: 366 Patients diagnosed with healthcare-associated Gram-negative bloodstream infection in the ICUs of our hospital between February 2015 and December 2021 were included in the study.

Synthesis and Photophysical Characterizations of Benzimidazole Functionalized BODIPY Dyes.

Herein, a series of new BODIPY dyes substituted by 2-phenyl benzimidazole units at the meso (C8) position including methyl/ethyl, phenyl, or p-methoxyphenyl moieties at the distal and proximal positions of the BODIPY core have been successfully synthesized and their photophysical characteristics were analyzed. Experimentally investigating absorption and fluorescence profiles in the THF media was followed by density functional theory (DFT) calculations to clarify photophysical features. Theoretical analyses have revealed that upon excitation, both electrons and holes are confined solely within the BODIPY core.