Is there an impact of a video-based patient informed consent in elective hand surgery?

Background: Patient informed consent is a crucial subject in preoperative care of patients before elective hand surgery, ensuring that patients have the necessary information and a comprehensive understanding to make autonomous decisions. The use of video-based informed consent systems is an innovative concept to enhance the consent process with multimedia tools. In addition to the conventional process, mostly relying on verbal communication and written documents, the video-based approach aims to present information in a standardized and visually appealing format.

PIK3CA mutation testing as a valuable molecular surrogate for lipomatosis of the median nerve: clinicopathological and molecular analysis of six cases.

Lipomatosis of peripheral nerves (LPN, also known as fibrolipomatous or lipofibromatous hamartoma of peripheral nerves) is a very rare, benign, intraneural, tumorous lesion that predominantly involves the median nerve but may rarely affect any peripheral nerve. Recently, PIK3CA mutations have been reported in macrodactyly, a rare condition related to LPN, and in other localized lipomatous overgrowth syndromes. In this retrospective study, we report 6 cases of FPN involving the median nerve (4 of them identified among 570 patients with carpal tunnel syndrome who underwent surgical decompression at our center from 2012 to 2022 and two seen in consultation by one of the authors).

The effect of a digital-assisted group rehabilitation on clinical and functional outcomes after total hip and knee arthroplasty-a prospective randomized controlled pilot study.

Background: The rising number of total hip and knee arthroplasties and the decreasing availability of physiotherapists require clinically and economically effective rehabilitation approaches. Therefore, the present pilot study investigated the effect of a novel digital-assisted individualized group rehabilitation program on clinical and functional outcomes after total hip and knee arthroplasty.

Methods: In this randomized controlled pilot study, 26 patients undergoing total knee or hip replacement were randomly assigned to either the intervention group (IG, novel digital-assisted group therapy) or the control group (CG, standard postoperative physiotherapy currently carried out in Germany).

Interdisciplinary Surgical Therapy of Extremity Soft-Tissue Sarcomas: A Personalized Resection and Reconstruction Algorithm.

Soft-tissue sarcomas (STS) are rare, but potentially life-threatening malignancies. STS can occur anywhere in the human body with the limbs being the most common site. Referral to a specialized sarcoma center is crucial to guarantee prompt and appropriate treatment.

Amplification-free detection of SARS-CoV-2 with CRISPR-Cas13a and mobile phone microscopy.

The December 2019 outbreak of a novel respiratory virus, SARS-CoV-2, has become an ongoing global pandemic due in part to the challenge of identifying symptomatic, asymptomatic, and pre-symptomatic carriers of the virus. CRISPR diagnostics can augment gold-standard PCR-based testing if they can be made rapid, portable, and accurate. Here, we report the development of an amplification-free CRISPR-Cas13a assay for direct detection of SARS-CoV-2 from nasal swab RNA that can be read with a mobile phone microscope.

Neurocognitive functioning in adults with phenylketonuria: Report of a 10-year follow-up.

Background: The long-term prognosis of early treated phenylketonuria (PKU) is still under discussion. Aim of this controlled long-term study was to assess the neurological and neuropsychological outcome in adult patients with early-treated PKU.

Methods: We investigated 35 patients with early-treated classical PKU aged 29 to 51 years (mean age 41 years) and 18 healthy controls matched for age and socioeconomic status.

[Cognitive model for behavioural interventions for personality disorders in older adults: a nursing approach].

Behavioural counselling by nurses can enhance quality of life in elderly with a personality disorder. Although nurses have a crucial role in day-to-day treatment, there is a lack of evidence-based approaches. Based on the cognitive therapy, the treatment protocol Cognitive Model for Behavioural Interventions (CoMBI) provides an alternative nursing approach for personality disorders.

Loss of Sarm1 does not suppress motor neuron degeneration in the SOD1G93A mouse model of amyotrophic lateral sclerosis.

Axon degeneration occurs in all neurodegenerative diseases, but the molecular pathways regulating axon destruction during neurodegeneration are poorly understood. Sterile Alpha and TIR Motif Containing 1 (Sarm1) is an essential component of the prodegenerative pathway driving axon degeneration after axotomy and represents an appealing target for therapeutic intervention in neurological conditions involving axon loss. Amyotrophic lateral sclerosis (ALS) is characterized by rapid, progressive motor neuron degeneration and muscle atrophy, causing paralysis and death.

Manipulating cell fate while confronting reproducibility concerns.

Biomedical research is being transformed by the discovery and use of human pluripotent stem cells (hPSCs). Remarkable progress has been made, and assorted clinical trials are underway related to the application of stem cell therapy, including transplantation of hPSC-derived cells, in situ reprogramming or transdifferentiation, and utilization of targets and compounds identified from patient-derived stem cells. However, the pace of discovery is overwhelming efforts to replicate the work of others, prompting a concern over validity and reproducibility.

The Library of Integrated Network-Based Cellular Signatures NIH Program: System-Level Cataloging of Human Cells Response to Perturbations.

The Library of Integrated Network-Based Cellular Signatures (LINCS) is an NIH Common Fund program that catalogs how human cells globally respond to chemical, genetic, and disease perturbations. Resources generated by LINCS include experimental and computational methods, visualization tools, molecular and imaging data, and signatures. By assembling an integrated picture of the range of responses of human cells exposed to many perturbations, the LINCS program aims to better understand human disease and to advance the development of new therapies.

Axon Death Pathways Converge on Axundead to Promote Functional and Structural Axon Disassembly.

Axon degeneration is a hallmark of neurodegenerative disease and neural injury. Axotomy activates an intrinsic pro-degenerative axon death signaling cascade involving loss of the NAD biosynthetic enzyme Nmnat/Nmnat2 in axons, activation of dSarm/Sarm1, and subsequent Sarm-dependent depletion of NAD. Here we identify Axundead (Axed) as a mediator of axon death.

Drosophila muller f elements maintain a distinct set of genomic properties over 40 million years of evolution.

The Muller F element (4.2 Mb, ~80 protein-coding genes) is an unusual autosome of Drosophila melanogaster; it is mostly heterochromatic with a low recombination rate. To investigate how these properties impact the evolution of repeats and genes, we manually improved the sequence and annotated the genes on the D.

dSarm/Sarm1 is required for activation of an injury-induced axon death pathway.

Axonal and synaptic degeneration is a hallmark of peripheral neuropathy, brain injury, and neurodegenerative disease. Axonal degeneration has been proposed to be mediated by an active autodestruction program, akin to apoptotic cell death; however, loss-of-function mutations capable of potently blocking axon self-destruction have not been described. Here, we show that loss of the Drosophila Toll receptor adaptor dSarm (sterile α/Armadillo/Toll-Interleukin receptor homology domain protein) cell-autonomously suppresses Wallerian degeneration for weeks after axotomy.

Whole Genome Sequencing and a New Bioinformatics Platform Allow for Rapid Gene Identification in D. melanogaster EMS Screens.

Forward genetic screens in Drosophila melanogaster using ethyl methanesulfonate (EMS) mutagenesis are a powerful approach for identifying genes that modulate specific biological processes in an in vivo setting. The mapping of genes that contain randomly-induced point mutations has become more efficient in Drosophila thanks to the maturation and availability of many types of genetic tools. However, classic approaches to gene mapping are relatively slow and ultimately require extensive Sanger sequencing of candidate chromosomal loci.

Monitoring of vitamin B-12 nutritional status in the United States by using plasma methylmalonic acid and serum vitamin B-12.

Background: Various definitions, criteria, tests, and cutoffs have been used to define vitamin B-12 status; however, a need exists for the systematic study of vitamin B-12 status in the United States because of concerns about high folic acid intakes and the potential for associated adverse effects.

Objective: The objective was to determine the effect of different cutoff choices on outcomes and of the different degrees of serum vitamin B-12 status, definable by the concurrent use of a functional and circulating marker as the first steps to developing a data-based consensus on the biochemical diagnosis of vitamin B-12 deficiency.

Design: Data from NHANES, a nationally representative cross-sectional survey, were examined for adults aged >19 y (mean ± SD age: 45 ± 1 y) from 1999 to 2004 (n = 12,612).

Smoking status and urine cadmium above levels associated with subclinical renal effects in U.S. adults without chronic kidney disease.

Tobacco smoke is a major source of adult exposure to cadmium (Cd). Urine Cd levels (CdU) above 1.0, 0.

Physiologically based pharmacokinetic (PBPK) tool kit for environmental pollutants--metals.

The Agency for Toxic Substances and Disease Registry (ATSDR) is mandated by the US Congress to identify significant human exposure levels, develop methods to determine such exposures, and design strategies to mitigate them. Physiologically based pharmacokinetic (PBPK) models are increasingly being used to evaluate toxicity of environmental pollutants through multiple exposure pathways. As part of its translational research project, ATSDR is developing a human 'PBPK model tool kit' that consists of a series of published models re-coded in a common simulation language.

Levamisole: a dangerous new cocaine adulterant.

Levamisole has increasingly been discovered in street cocaine as an adulterant. Recent reports have linked levamisole in street cocaine to agranulocytosis in cocaine users. It is well known that agranulocytosis is associated with therapeutic use of levamisole, and this may have led to the withdrawal of the drug from the US market.

Interpreting NHANES biomonitoring data, cadmium.

Cadmium (Cd) occurs naturally in the environment and the general population's exposure to it is predominantly through diet. Chronic Cd exposure is a public health concern because Cd is a known carcinogen; it accumulates in the body and causes kidney damage. The National Health and Nutritional Examination Survey (NHANES) has measured urinary Cd; the 2003-2004 NHANES survey cycle reported estimates for 2257 persons aged 6 years and older in the Fourth National Report on Human Exposure to Environmental Chemicals.

Postmortem blood cadmium, lead, and mercury concentrations: comparisons with regard to sampling location and reference ranges for living persons.

This study's goal was to determine cadmium (Cd), lead (Pb), total mercury (THg), and inorganic mercury (IHg) levels in human cadavers to compare measured levels with established reference ranges for living persons and to determine whether blood levels varied with time from death to sample collection or by body collection site. Subjects (n = 66) recruited from the Fulton County Medical Examiner's Office in Atlanta, GA, were 20 years of age or older, had no penetrating trauma, no obvious source of environmental contamination of the vasculature, and had whole blood accessible from the femoral (F) site, the cardiac (C) site, or both. Geometric mean results were as follows: 2.

Melamine toxicity.

Melamine contamination of infant formula in China and its health effects highlight the safety of the global food supply especially as it relates to formula-fed infants. Melamine is a widely used industrial chemical not considered acutely toxic with a high LD(50) in animals. The data available on acute and chronic human exposure to melamine have been limited and extrapolated from animal data.

Exposure of the U.S. population to acrylamide in the National Health and Nutrition Examination Survey 2003-2004.

Background: The lifelong exposure of the population to acrylamide has raised concerns about the possible health effects of the chemical. Data on the extent of exposure to acrylamide and its primary metabolite, glycidamide, are needed to aid in the assessment of potential health effects.

Objectives: The aim of this study was to assess human exposure to acrylamide and glycidamide in the general U.

Neuronal death or dismemberment mediated by Sox14.

The pruning of unneeded axons and dendrites is crucial for circuitry maturation, but poorly understood on the molecular level. During metamorphosis, the transcription factor Sox14 acts as a context-dependent mediator of death, axonal or dendritic pruning. Its transcriptional target Mical acts specifically in dendrite pruning.