Month: March 2023

The potential of integrating human and mouse discovery platforms to advance our understanding of cardiometabolic diseases by Aaron W Jurrjens

Cardiometabolic diseases encompass a range of interrelated conditions that arise from underlying metabolic perturbations precipitated by genetic, environmental, and lifestyle factors. While obesity, dyslipidaemia, smoking, and insulin resistance are major risk factors for cardiometabolic diseases, individuals still present in the absence of such traditional risk factors, making it difficult to determine those at greatest risk…

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C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD by Pedro Ervilha Pereira

Neuronal TDP-43-positive inclusions are neuropathological hallmark lesions in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Pathogenic missense variants in TARDBP, the gene encoding TDP-43, can cause ALS and cluster in the C-terminal prion-like domain (PrLD), where they modulate the liquid condensation and aggregation properties of the protein. TDP-43-positive inclusions are also found in rimmed…

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Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening by Lingling Xie

The short pre-M1 helix within the S1-M1 linker (also referred to as the pre-M1 linker) between the agonist-binding domain (ABD, S1) and the M1 transmembrane helix of the NMDA receptor (NMDAR) is devoid of missense variants within the healthy population but is a locus for de novo pathogenic variants associated with neurological disorders. Several de…

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A narrative review: CXC chemokines influence immune surveillance in obesity and obesity-related diseases: Type 2 diabetes and nonalcoholic fatty liver disease by Amin Ullah

Adipose tissue develops lipids, aberrant adipokines, chemokines, and pro-inflammatory cytokines as a consequence of the low-grade systemic inflammation that characterizes obesity. This low-grade systemic inflammation can lead to insulin resistance (IR) and metabolic complications, such as type 2 diabetes (T2D) and nonalcoholic fatty liver disease (NAFLD). Although the CXC chemokines consists of numerous regulators of…

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Effect of Disulfiram and Copper Plus Chemotherapy vs Chemotherapy Alone on Survival in Patients With Recurrent Glioblastoma: A Randomized Clinical Trial by Katja Werlenius

CONCLUSIONS AND RELEVANCE: This randomized clinical trial found that among patients with recurrent glioblastoma, the addition of disulfiram and copper to chemotherapy, compared with chemotherapy alone, resulted in significantly increased toxic effects, but no significant difference in survival. These findings suggest that disulfiram and copper is without benefit in patients with recurrent glioblastoma.

Antidepressants for the treatment of depression in people with cancer by Giovanni Vita

BACKGROUND: Major depression and other depressive conditions are common in people with cancer. These conditions are not easily detectable in clinical practice, due to the overlap between medical and psychiatric symptoms, as described by diagnostic manuals such as the Diagnostic and Statistical Manual of Mental Disorders (DSM) and International Classification of Diseases (ICD). Moreover, it…

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Understanding How Community Health Workers Build Trust with Low-Income Women of Color At-Risk for Maternal Child Health Disparities: A Grounded Theory Study by Elbina Batala Rafizadeh

This article examines how Community Health Workers (CHWs) build trust with low-income women of color who have a historical distrust of the healthcare system, and are at risk for maternal-child health disparities. This qualitative study used a grounded theory methodology guided by Charmaz’s inductive social constructivist approach. Data were collected using open-ended semi-structured interviews and…

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Integrating Substance Misuse Specialists in a Youth Early Psychosis Service: Increasing Mental Health Clinicians’ Knowledge and Confidence by Liza Hopkins

Substance misuse and mental health disorders are commonly occurring co-morbidities in young people. This paper reports on a pilot project to embed three specialist Alcohol and Other Drug (AoD) workers to be embedded in a youth early psychosis service to upskill mental health clinicians in managing substance misuse. Evaluation of the project used a mixed…

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Dendritic spine dynamics in associative memory: A comprehensive review by Hongling Guo

Associative learning and memory are fundamental behavioral processes through which organisms adapt to complex environments. Associative memory involves long-lasting changes in synaptic plasticity. Dendritic spines are tiny protrusions from the dendritic shaft of principal neurons, providing the structural basis for synaptic plasticity and brain networks in response to external stimuli. Mounting evidence indicates that dendritic…

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Molecular simulation-guided aptasensor design of robust and sensitive lateral flow strip for cadmium ion detection by Muhammad Irfan

Lateral flow fluorescence strip (LFFS) aptasensor have been widely used for on-site target detection. However, they are limited by low sensitivity and strong background signals owing to the inappropriate design of molecule probes. Herein, we employed molecular simulations to improve the sensitivity of LFFS by the optimization of the DNA probe length and sequence, which…

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Long-term management of pediatric psoriasis with ixekizumab: a case report by Diego Orsini

Psoriasis in pediatric patients is uncommon and the management of moderate-to-severe cases can be challenging. We report the case of a 17-year-old girl who presented with severe plaque psoriasis unresponsive to UVB phototherapy. The Psoriasis Area Severity Index (PASI) was 18 and the Dermatology Life Quality Index was 24. We decided to prescribe ixekizumab, observing…

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