Reflex Sympathetic Dystrophy Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure
AbstractAdaptation of humans to challenging environmental conditions, such as extreme temperature, malnutrition, or hypoxia, is an interesting phenomenon for both basic and applied research. Identification of the genetic factors contributing to human adaptation to these conditions enhances our understanding of the underlying molecular and physiological mechanisms. In our study, we analyzed the exomes of 22 high altitude mountaineers to uncover genetic variants contributing to hypoxic adaptation. To our surprise, we identified two putative loss-of-function variants, rs1385101139 inRTEL1 and rs1002726737 inCOL6A1 in two extr...
Source: Physiological Reports - April 24, 2024 Category: Physiology Authors: Evgeniia M. Maksiutenko, Valeriia Merkureva, Yury A. Barbitoff, Victoria V. Tsay, Mikhail V. Aseev, Andrey S. Glotov, Oleg S. Glotov Tags: SHORT REPORT Source Type: research

Paroxysmal Sympathetic Hyperactivity in the Acute Phase Post-Brain Tumour Surgery of Glioblastoma Multiforme
J Korean Neurosurg Soc. 2024 Apr 23. doi: 10.3340/jkns.2024.0026. Online ahead of print.NO ABSTRACTPMID:38650429 | DOI:10.3340/jkns.2024.0026 (Source: Journal of Korean Neurosurgical Society)
Source: Journal of Korean Neurosurgical Society - April 23, 2024 Category: Neurosurgery Authors: Yasothai Sahadeevan Mazlina Mazlan Source Type: research

Myotonic dystrophy type 1 - a multiorgan disorder
Tidsskr Nor Laegeforen. 2024 Apr 16;144(5). doi: 10.4045/tidsskr.23.0687. Print 2024 Apr 23.ABSTRACTMyotonic dystrophy type 1 is an autosomal dominant, inherited multiorgan disorder that can affect people of all ages. It is the most prevalent inherited muscular disease in adults. Late diagnosis points to limited knowledge among the medical community that symptoms other than typical muscular symptoms can dominate. The condition often worsens with each generation and some families are severely affected. Significantly delayed diagnosis means a risk of more serious development of the disorder and inadequate symptomatic treatme...
Source: Tidsskrift for den Norske Laegeforening - April 23, 2024 Category: General Medicine Authors: Kristin Ørstavik Gro Solbakken Magnhild Rasmussen Petter Schandl Sanaker Hanne Ludt Fossmo Einar Bryne Torill Knutsen- Øy Tonje Elgs ås Arvid Heiberg Source Type: research

Influence of Pre- and Intraoperative Local Anaesthetic in Strabismus Surgery under General Anaesthesia in Adults
CONCLUSION: As this increases patient safety and comfort and is cost-effective (less time in the recovery room), we recommend adding perioperative local anaesthesia to strabismus surgery performed under general anaesthesia.PMID:38653301 | DOI:10.1055/a-2268-9411 (Source: Klinische Monatsblatter fur Augenheilkunde)
Source: Klinische Monatsblatter fur Augenheilkunde - April 23, 2024 Category: Opthalmology Authors: Daniel Felber Francoise Roulez Anja Palmowski-Wolfe Source Type: research

Macular Corneal Dystrophy - Molecular Genetics as the Key in Treatment-Refractory Keratopathy
Klin Monbl Augenheilkd. 2024 Apr;241(4):398-401. doi: 10.1055/a-2219-8288. Epub 2024 Apr 23.NO ABSTRACTPMID:38653268 | DOI:10.1055/a-2219-8288 (Source: Klinische Monatsblatter fur Augenheilkunde)
Source: Klinische Monatsblatter fur Augenheilkunde - April 23, 2024 Category: Opthalmology Authors: Jan Spindler Samuel Koller Urs Graf Wolfgang Berger Christina Gerth-Kahlert Frank Blaser Source Type: research

Video-based analysis of the blink reflex in Parkinson ’s disease patients
We developed a video-based tool to quantitatively assess the Glabellar Tap Reflex (GTR) in patients with idiopathic Parkinson ’s disease (iPD) as well as healthy age-matched participants. We also video-graphica... (Source: BioMedical Engineering OnLine)
Source: BioMedical Engineering OnLine - April 23, 2024 Category: Biomedical Engineering Authors: Talisa S. Jansen, G ökhan Güney, Bergita Ganse, Mariana H. G. Monje, Jörg B. Schulz, Manuel Dafotakis, Christoph Hoog Antink and Anne K. Braczynski Tags: Research Source Type: research

Sympathetic dysfunction as an early indicator of autonomic involvement in Parkinson ’s disease
ConclusionThe ∆BPVM2 parameter of the VM may help detect autonomic nervous system involvement in early-PD without OH. Our results suggest that sympathetic dysfunction is an early manifestation of autonomic dysfunction in patients with PD. (Source: Clinical Autonomic Research)
Source: Clinical Autonomic Research - April 23, 2024 Category: Research Source Type: research

Genes, Vol. 15, Pages 527: Resolving Discrepancies in Idylla BRAF Mutational Assay Results Using Targeted Next-Generation Sequencing
Oltvai BRAF mutation identification is important for the diagnosis and treatment of several tumor types, both solid and hematologic. Rapid identification of BRAF mutations is required to determine eligibility for targeted BRAF inhibitor therapy. The Idylla BRAF mutation assay is a rapid, multiplex allele-specific PCR test designed to detect the most common oncogenic BRAF V600 mutations in formalin-fixed paraffin-embedded (FFPE) tissue samples. Here, we describe the validation of the Idylla BRAF mutation assay in our laboratory. During routine clinical practice, we noticed cases in which BRAF V600 mutations were identif...
Source: Genes - April 23, 2024 Category: Genetics & Stem Cells Authors: Giby V. George Huijie Liu Audrey N. Jajosky Zolt án N. Oltvai Tags: Article Source Type: research

Interoceptive signals from the heart and coronary circulation in health and disease
This review considers interoceptive signalling from the heart and coronary circulation. Vagal and cardiac sympathetic afferent sensory nerve endings are distributed throughout the atria, ventricles (mainly left), and coronary artery. A small proportion of cardiac receptors attached to thick myelinated vagal afferents are tonically active during the cardiac cycle. Dependent upon location, these mechanoreceptors detect fluctuations in atrial volume and coronary arterial perfusion. Atrial volume and coronary arterial signals contribute to beat-to-beat feedback control and physiological homeostasis. (Source: Autonomic Neurosci...
Source: Autonomic Neuroscience: Basic and Clinical - April 23, 2024 Category: Neuroscience Authors: Jonathan P. Moore Tags: Review Article Source Type: research

The Birth and Beyond (BABY) study: protocol for a birth cohort study investigating the social and environmental determinants of pregnancy-related outcomes in Black American families
Introduction In the USA, Black birthing people and infants experience disproportionately worse pregnancy-related health outcomes. The causes for these disparities are unknown, but evidence suggests that they are likely socially and environmentally based. Efforts to identify the determinants of these racial disparities are urgently needed to elucidate the highest priority targets for intervention. The Birth and Beyond (BABY) study evaluates how micro-level (eg, interpersonal and family) and macro-level (eg, neighbourhood and environmental) risk and resiliency factors transact to shape birth person-infant health, and underly...
Source: BMJ Open - April 23, 2024 Category: General Medicine Authors: Lin, B., Middleton, R. R., Terefe, B., Appleton, A. A., Feingold, B. J., Lynch, T., Pieterse, A. L., Rogers, R., Armah, A. E., Bierce, L. F., Flagg, A. M., McCarthy, S. Tags: Open access, Public health Source Type: research

Differential metabolic secretion between mdx mouse-derived spindle cell sarcomas and rhabdomyosarcomas drives tumor type development
In this study, we aimed to use metabolomics to better understand the rarity of SCS development in mdx mice. Gas chromatography-mass spectrometry was employed to compare the metabolic profiles of spontaneously developed SCS and RMS tumors from mdx mice, and metabolite supplementation assays and silencing experiments were used to assess the effects of metabolic differences in SCS tumor-derived cells. The levels of 75 metabolites exhibited differences between RMS and SCS, 25 of which were significantly altered. Further characterization revealed downregulation of non-essential amino acids, including alanine, in SCS tumors. Ala...
Source: Am J Physiol Cell Ph... - April 22, 2024 Category: Cytology Authors: Emma Eko Tabe Niba Hiroyuki Awano Noriyuki Nishimura Hiroshi Koide Masafumi Matsuo Masakazu Shinohara Source Type: research

Differential metabolic secretion between mdx mouse-derived spindle cell sarcomas and rhabdomyosarcomas drives tumor type development
In this study, we aimed to use metabolomics to better understand the rarity of SCS development in mdx mice. Gas chromatography-mass spectrometry was employed to compare the metabolic profiles of spontaneously developed SCS and RMS tumors from mdx mice, and metabolite supplementation assays and silencing experiments were used to assess the effects of metabolic differences in SCS tumor-derived cells. The levels of 75 metabolites exhibited differences between RMS and SCS, 25 of which were significantly altered. Further characterization revealed downregulation of non-essential amino acids, including alanine, in SCS tumors. Ala...
Source: American Journal of Physiology. Cell Physiology - April 22, 2024 Category: Cytology Authors: Emma Eko Tabe Niba Hiroyuki Awano Noriyuki Nishimura Hiroshi Koide Masafumi Matsuo Masakazu Shinohara Source Type: research

Retinal vascular abnormalities in myotonic dystrophy assessed by optical coherence tomography angiography - Cross-sectional study
CONCLUSION: Our results show that DM is associated not only with the classic pigmentary changes but also with superficial and deep retinal microvasculature abnormalities, suggesting that these changes may be related to local hypoperfusion. Optical coherence tomography angiography is a useful tool for the diagnosis and characterization of retinal changes in DM and should be part of the standard evaluation of these patients.PMID:38644803 | DOI:10.1177/11206721241247424 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - April 22, 2024 Category: Opthalmology Authors: Jelena Vasilijevic Stojan Peric Ivana Basta Igor Kovacevic Gorica Maric Nada Avram Ilija Gunjic Marija Bozic Source Type: research

On being unpredictable and winning
J Pers Soc Psychol. 2024 Mar;126(3):369-389. doi: 10.1037/pspa0000378.ABSTRACTIn theory, it can be strategically advantageous for competitors to make themselves unpredictable to their opponents, for example, by variably mixing hostility and friendliness. Empirically, it remains open whether and how competitors make themselves unpredictable, why they do so, and how this conditions conflict dynamics and outcomes. We examine these questions in interactive attacker-defender contests, in which attackers invest to capture resources held and defended by their opponent. Study 1, a reanalysis of nine (un)published experiments (tota...
Source: Journal of Personality and Social Psychology - April 22, 2024 Category: Psychiatry & Psychology Authors: Carsten K W De Dreu J örg Gross Andrea Arciniegas Laura C Hoenig Michael Rojek-Giffin Daan T Scheepers Source Type: research

Cold-Induced Reflex Epilepsy
This case report describes a woman cold-induced reflex seizures. (Source: JAMA Neurology)
Source: JAMA Neurology - April 22, 2024 Category: Neurology Source Type: research