Background: Posttraumatic stress disorder (PTSD) affects 3.9% of the general population. While massed cognitive processing therapy (CPT) has demonstrated efficacy in treating chronic PTSD, a substantial proportion of patients still continue to meet PTSD criteria after treatment, highlighting the need for novel therapeutic approaches.
View Article and Find Full Text PDFThe GM2 gangliosidoses, Tay-Sachs disease and Sandhoff disease, are devastating neurodegenerative disorders caused by β-hexosaminidase A (HexA) deficiency. In the Sandhoff disease mouse model, rescue potential was severely reduced when HexA was introduced after disease onset. Here, we assess the effect of recombinant HexA and HexD3, a newly engineered mimetic of HexA optimized for the treatment of Tay-Sachs disease and Sandhoff disease.
View Article and Find Full Text PDFThe cytosolic capping protein, Arp2/3 and myosin-I linker protein 2 or CARMIL2 plays an important role in T/B/NK cell function. Biallelic disease causing variants in CARMIL2 are known to cause immunodeficiency 58. We report a 13-year-old girl with recurrent infections, dermatitis and nephrotic syndrome since childhood.
View Article and Find Full Text PDFIntroduction: Depression is prevalent after traumatic brain injury (TBI). However, there is a lack of understanding of the brain-based correlates of depression post-TBI. This systematic review aimed to synthesize findings of structural and functional magnetic resonance imaging (MRI) studies to identify consistently reported neural correlates of depression post-TBI.
View Article and Find Full Text PDFHydroxycarbamide (HC) is the most widely used therapeutic for individuals with sickle cell disease (SCD, including sickle cell anemia and other forms of the disease). HC's clinical benefits are primarily associated with its ability to induce foetal haemoglobin (HbF); this limited view of HC's therapeutic potential may lead to its discontinuation when a modest amount of HbF is induced. A better understanding of the HbF-independent effects of HC on genes and pathways relevant to SCD pathophysiology is therefore needed.
View Article and Find Full Text PDFBackground: Physical activity trackers possess the potential to encourage increased physical activity. However, users often exhibit poor long-term adherence to these devices, which may stem from a lack of understanding of the factors influencing their use, as well as changes in health behavior. This study aims to provide new insights into the types of health-related apps and devices that young people discover, select, and utilize, along with the underlying reasons for their choices.
View Article and Find Full Text PDFArtemis is a key nuclease involved in the non-homologous end joining repair pathway upon DNA double-stranded breaks and during V(D)J recombination. It participates in various cellular processes and cooperates with various proteins involved in tumorigenesis. Its hereditary mutations lead to several pathological conditions, such as severe combined immunodeficiency with radiation sensitivity.
View Article and Find Full Text PDFBackground: Despite the frequent co-occurrence of depression and diabetes, gender differences in their relationship remain unclear.
Aims: This exploratory study examined if gender modifies the association between depressive symptoms, prediabetes and diabetes with cognitive-affective and somatic depressive symptom clusters.
Method: Cross-sectional analyses were conducted on 29 619 participants from the 2007-2018 National Health and Nutrition Examination Survey.
Interact J Med Res
November 2024
Background: Depression is a prevalent global mental health disorder with substantial individual and societal impact. Natural language processing (NLP), a branch of artificial intelligence, offers the potential for improving depression screening by extracting meaningful information from textual data, but there are challenges and ethical considerations.
Objective: This literature review aims to explore existing NLP methods for detecting depression, discuss successes and limitations, address ethical concerns, and highlight potential biases.
Background: End-stage kidney disease (ESKD) is commonly associated with critical limb-threatening ischemia (CLTI) and frailty. Yet there are no specific tools to predict outcomes of CLTI in ESKD, particularly those that incorporate frailty. We aimed to assess the utility of the medical record-based Hospital Frailty Risk (HFR) score in predicting outcomes of CLTI in ESKD.
View Article and Find Full Text PDFSeveral genetic disorders are associated with either a permanent deficit or a delay in central nervous system myelination. We investigated 24 unrelated families (25 individuals) with deficient myelination after clinical and radiological evaluation. A combinatorial approach of targeting and/or genomic testing was employed.
View Article and Find Full Text PDFResearch on energy storage devices has focused on improving asymmetric supercapacitors (ASCs) by utilizing two different electrode materials. In this work, we have successfully prepared a unique material, ZnO/SnO nanoflower, the hydrothermal method. Graphene oxide (GO) was synthesized by applying the modified Hummers' technique.
View Article and Find Full Text PDFDeep mutational scanning enables high-throughput functional assessment of genetic variants. While phenotypic measurements from screening assays generally align with clinical outcomes, experimental noise may affect the accuracy of individual variant estimates. We developed the FUSE (functional substitution estimation) pipeline, which leverages measurements collectively within screening assays to improve the estimation of variant impacts.
View Article and Find Full Text PDFThe rapid rise of multidrug-resistant (MDR) organisms has created a critical need for alternative treatment options. Phage therapy is gaining attention as an effective way to fight bacterial infections by using lytic bacteriophages to specifically target and kill harmful bacteria. This review discusses several phage therapeutic options and emphasizes new developments in phage biology.
View Article and Find Full Text PDFPsychiatry Clin Neurosci
December 2024
Psilocybin is a classic psychedelic with demonstrated preliminary clinical efficacy in a range of psychiatric disorders. Evaluating the impact of psilocybin on cognitive function is essential to unravel its potential benefits and risks. In this systematic review, we assessed psilocybin's effect on cognitive function through a comprehensive search of electronic databases from inception to January 2024, identifying 20 articles involving 2,959 participants.
View Article and Find Full Text PDFWe present a case of a newborn infant with a vein of Galen aneurysmal malformation (VOGM) who was admitted to our neonatal intensive care unit (NICU) with the diagnosis of persistent pulmonary hypertension of the newborn (PPHN). Further work-up at our institution, which included an echocardiogram and cranial ultrasound revealed VOGM. The patient was transferred to a children's center for further management of the vascular malformation where the patient subsequently died from high cardiac output heart failure.
View Article and Find Full Text PDFThe accurate determination of the post-dilution concentration of biological buffers is essential for retaining the necessary properties and effectiveness of the buffer to maintain stable cellular environments and optimal conditions for biochemical reactions. In this work, we introduce a silicon-based impedance chip, which offers a rapid and reagent-free approach for monitoring the buffer concentrations after dilution with deionized (DI) water. The impedance of the impedance chip is measured, and the impedance data are modeled using a multiparameter equivalent circuit model.
View Article and Find Full Text PDFBackground: Transcranial temporal interference stimulation (tTIS) is a new, emerging neurostimulation technology that utilizes two or more electric fields at specific frequencies to modulate the oscillations of neurons at a desired spatial location in the brain. The physics of tTIS offers the advantage of modulating deep brain structures in a non-invasive fashion and with minimal stimulation of the overlying cortex outside of a selected target. As such, tTIS can be effectively employed in the context of therapeutics for the psychiatric disease of disrupted brain connectivity, such as major depressive disorder (MDD).
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