Delayed Progression of Ataxia with a Static Cerebellar Lesion- Consider SCA27B.

Repeat expansions in the fibroblast growth factor 14 gene (FGF14), associated with spinocerebellar ataxia type 27B (SCA27B), have emerged as a prevalent cause of previously unexplained late-onset cerebellar ataxia. Here, we present a patient with residual symptom of gait ataxia after complicated meningioma surgery, who presented with progressive symptoms of oculomotor disturbances, speech difficulties, vertigo and worsening of gait imbalance, twelve years post-resection. Neuroimaging revealed a surgical resection cavity in the dorsolateral side of the left cerebellar hemisphere, accompanied by gliosis in left cerebellar hemisphere extending into the vermis, extensive non-specific supratentorial periventricular white matter abnormalities, and mild atrophy of the cerebellar vermis.

Real time monitoring of intrarenal pressures while using the flexible and navigable suction ureteral access sheath.

Purpose: To report on in-vivo intrarenal pressure (IRP) during flexible ureteroscopy for treatment of kidney stones while using the novel flexible and navigable suction ureteral access sheath (FANS).

Methods: A retrospective observational analysis was performed for 25 patients undergoing routine flexible ureteroscopy for treatment of renal stones between February 2024 and June 2024 from two centres in Canada. The LithoVue Elite™ ureteroscope (Boston Scientific Corp.

Intratumoral Injection of mRNA-2752 and Pembrolizumab for High-Risk Ductal Carcinoma In Situ: A Phase 1 Nonrandomized Clinical Trial.

Importance: Intratumoral immunotherapy that leverages the biological characteristics of high-risk ductal carcinoma in situ (DCIS) may be able to reduce the extent of surgical treatment and provide an alternative approach to improve patient outcomes.

Objective: To determine if combination intratumoral immunotherapy can activate immune cells to shrink or eliminate high-risk DCIS.

Design, Setting, And Participants: This phase 1 open-label nonrandomized clinical trial at a single academic center tested the safety and efficacy of intratumoral immunotherapy in patients with high-risk DCIS, defined as at least 2 of the following present: younger than 45 years, tumor size greater than 5 cm, high-grade, palpable mass, hormone receptor (HR)-negative, or ERBB2-positive.

Investigating the key principles in two-step heterogeneous transfer learning for early laryngeal cancer identification.

Data scarcity in medical images makes transfer learning a common approach in computer-aided diagnosis. Some disease classification tasks can rely on large homogeneous public datasets to train the transferred model, while others cannot, i.e.

Kaposi's sarcoma-associated herpesvirus (KSHV) gB dictates a low-pH endocytotic entry pathway as revealed by a dual-fluorescent virus system and a rhesus monkey rhadinovirus expressing KSHV gB.

Interaction with host cell receptors initiates internalization of Kaposi's sarcoma-associated herpesvirus (KSHV) particles. Fusion of viral and host cell membranes, which is followed by release of the viral capsid into the cytoplasm, is executed by the core fusion machinery composed of glycoproteins H (gH), L (gL), and B (gB), that is common to all herpesviruses. KSHV infection has been shown to be sensitive to inhibitors of vacuolar acidification, suggestive of low pH as a fusion trigger.

Privacy preserving strategies for electronic health records in the era of large language models.

Electronic health records (EHRs) secondary usage with large language models (LLMs) raise privacy challenges. National regulations like GDPR and HIPAA offer protection frameworks, but specific strategies are needed to mitigate risk in generative AI. Risks can be reduced by using strategies like privacy-preserving locally deployed LLMs, synthetic data generation, differential privacy, and deidentification.

Inhibition of Interleukin-40 prevents multi-organ damage during sepsis by blocking NETosis.

Despite intensive clinical and scientific efforts, the mortality rate of sepsis remains high due to the lack of precise biomarkers for patient stratification and therapeutic guidance. Interleukin 40 (IL-40), a novel cytokine with immune regulatory functions in human diseases, was elevated at admission in two independent cohorts of patients with sepsis. High levels of secreted IL-40 in septic patients were positively correlated with PCT, CRP, lactate (LDH), and Sequential Organ Failure Assessment (SOFA) scores, in which IL-40 levels were used to stratify the early death of critically ill patients with sepsis.

Cost-effectiveness analysis of trastuzumab emtansine for second-line treatment of HER2+ advanced breast cancer in Singapore.

Objective: To evaluate the cost-effectiveness of trastuzumab emtansine (T-DM1) compared to both lapatinib plus capecitabine (lapcap) and trastuzumab plus capecitabine (trascap) for treating human epidermal growth factor 2-positive advanced breast cancer patients, who have received prior treatment with trastuzumab and a taxane, in Singapore.

Research Design And Methods: A three-state partitioned survival model was used to evaluate the cost-effectiveness from the local healthcare system perspective. Key effectiveness data, including progression-free survival and overall survival from the pivotal EMILIA trial, were used alongside local clinician inputs.

Re-Engagement in Physical Activity Slows the Decline in Older Adults' Well-Being - A Longitudinal Study.

Physical activity is recommended for older adults; however, the benefits of previous active engagement in physical activity that can be sustained after one becomes inactive remain to be determined. This study investigated the longitudinal associations between physical activity engagement patterns and older adults' well-being. This population-based cohort study used data from the China Health and Retirement Longitudinal Study between 2015 and 2020.

Emotional Health of Transgender Youth 24 Months After Initiating Gender-Affirming Hormone Therapy.

Purpose: Limited data exist about the emotional health of transgender youth, either before or after initiation of gender-affirming hormone (GAH). The objectives were: (1) Investigate and verify the factor structure of the National Institutes of Health Toolbox Emotional Battery (NIHTB-EB) among trans and non-binary (TNB) youth; (2) Examine changes in emotional health over 24 months of GAH treatment; and (3) Examine the extent to which changes in emotional health were associated with improved appearance congruence (AC).

Methods: Study respondents were from Trans Youth Care - United States (TYCUS) study, an observational, prospective, longitudinal study of adolescents initiating GAH enrolled between 2016 and 2019.

Hepatic adverse events associated with ketamine and esketamine: A population-based disproportionality analysis.

Background And Objective: To determine whether there is disproportionate reporting of hepatobiliary disorders in the United States (US) FDA Adverse Event Reporting System (FAERS) for individuals prescribed ketamine or esketamine.

Design: We identified Medical Dictionary for Regulatory Activities (MedDRA) terms in the FAERS related to hepatobiliary disorders.

Main Measures: Formulations of ketamine and esketamine were evaluated for the proportionality of reporting for each hepatobiliary disorder parameter using the reporting odds ratio (ROR).

Rapid on-site determination of heavy metals and metalloids in contaminated biochar samples by accelerated leaching process coupled with voltammetric sensors.

Heavy metals and metalloids are the most common environmental pollutants. Toxicity characteristic leaching procedure (TCLP) is a standard operating procedure that is used to assess heavy metal and metalloid compositions, and evaluate the hazardous nature of waste and waste-derived materials for reuse or disposal, such as determining landfill suitability. However, TCLP and the following detections are time-consuming and require bulky laboratory-based instruments and trained personnel.

Skin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function.

Here we characterize seven Cx30.3 gene variants (R22H, S26Y, P61R, C86S, E99K, T130M and M190L) clinically associated with the rare skin disorder erythrokeratodermia variabilis et progressiva (EKVP) in tissue-relevant and differentiation-competent rat epidermal keratinocytes (REKs). We found that all variants, when expressed alone or together with wildtype (WT) Cx30.

Adaptation of clinical bacteriology techniques for remote polar research.

Unlabelled: Remote polar regions offer unique opportunities and significant challenges for antimicrobial resistance research in a near-pristine environment. While core microbiology techniques continue to have an important role in supporting environmental research, the severe cold climate presents considerable challenges to laboratory research. We explore adaptations required for core bacteriology investigations in polar regions on an unsupported remote expedition c.

Efficacy and safety of daprodustat in patients on peritoneal dialysis in the ASCEND-D trial.

Background And Hypothesis: Daprodustat, an oral hypoxia-inducible factor prolyl hydroxylase inhibitor, is approved for treatment of anemia in dialysis patients with CKD in some parts of the world. This subgroup analysis examined the efficacy and safety of daprodustat versus darbepoetin alfa in patients with anemia of CKD undergoing peritoneal dialysis (PD).

Methods: ASCEND-D (NCT02879305) was an open-label, Phase 3 trial; patients with CKD were randomized to daprodustat daily and epoetin alfa (HD patients) or darbepoetin alfa (PD patients).

Machine learning models for preventative mobile health asthma control.

Introduction: Asthma attacks are set off by triggers such as pollutants from the environment, respiratory viruses, physical activity and allergens. The aim of this research is to create a machine learning model using data from mobile health technology to predict and appropriately warn a patient to avoid such triggers.

Methods: Lightweight machine learning models, XGBoost, Random Forest, and LightGBM were trained and tested on cleaned asthma data with a 70-30 train-test split.

Artificial intelligence-powered solutions for automated aortic diameter measurement in computed tomography: a narrative review.

Background And Objective: Patients with thoracic aortic aneurysm and dissection (TAAD) are often asymptomatic but present acutely with life threatening complications that necessitate emergency intervention. Aortic diameter measurement using computed tomography (CT) is considered the gold standard for diagnosis, surgical planning, and monitoring. However, manual measurement can create challenges in clinical workflows due to its time-consuming, labour-intensive nature and susceptibility to human error.

Reticulocyte Binding Protein Homologue 5 is a target of balancing selection in the population of Papua New Guinea.

Reticulocyte Binding Protein Homologue (RH5), a leading malaria vaccine candidate, is essential for erythrocyte invasion by the parasite, interacting with the human host receptor, basigin. RH5 has a small number of polymorphisms relative to other blood-stage antigens, and studies have shown that vaccine-induced antibodies raised against RH5 are strain-transcending, however most studies investigating RH5 diversity have been done in Africa. Understanding the genetic diversity and evolution of malaria antigens in other regions is important for their validation as vaccine candidates.

Correction to "Optochemical Control of mTOR Signaling and mTOR-Dependent Autophagy".

[This corrects the article DOI: 10.1021/acsptsci.1c00230.

A case series in vertebral body tethering results in improvement in coronal Cobb angle but deterioration in axial rotation: a 3-dimensional analysis.

Background: Vertebral body tethering (VBT) has shown improvements in coronal and sagittal plane correction in adolescent idiopathic scoliosis (AIS) patients, but axial correction over time remains unexplored. Three-dimensional (3D) spine reconstruction was used to analyse correctional changes in all spinal planes post VBT surgery.

Case Description: AIS subjects who underwent thoracic VBT surgery with a minimum 2-year follow-up were assessed.

Convergent-beam attosecond x-ray crystallography.

Sub-ångström spatial resolution of electron density coupled with sub-femtosecond to few-femtosecond temporal resolution is required to directly observe the dynamics of the electronic structure of a molecule after photoinitiation or some other ultrafast perturbation, such as by soft X-rays. Meeting this challenge, pushing the field of quantum crystallography to attosecond timescales, would bring insights into how the electronic and nuclear degrees of freedom couple, enable the study of quantum coherences involved in molecular dynamics, and ultimately enable these dynamics to be controlled. Here, we propose to reach this realm by employing convergent-beam x-ray crystallography with high-power attosecond pulses from a hard-x-ray free-electron laser.

Cochlear implantation in adults with acquired single-sided deafness improves cortical processing and comprehension of speech presented to the non-implanted ears: a longitudinal EEG study.

Former studies have established that individuals with a cochlear implant (CI) for treating single-sided deafness experience improved speech processing after implantation. However, it is not clear how each ear contributes separately to improve speech perception over time at the behavioural and neural level. In this longitudinal EEG study with four different time points, we measured neural activity in response to various temporally and spectrally degraded spoken words presented monaurally to the CI and non-CI ears (5 left and 5 right ears) in 10 single-sided CI users and 10 age- and sex-matched individuals with normal hearing.

Exploring how structural forms of power shape the training of intraprofessional collaboration between family physicians and specialty physicians in outpatient workplace settings.

Introduction: Intraprofessional collaboration between family physicians (FPs) and specialist physicians (SPs) is posited to improve patient outcomes but is hindered by power dynamics. Research informing intraprofessional training on hospital wards often conceptualizes power at an interactional level. However, less is known about how social structures make these power dynamics possible.