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Decoding the nexus:branched-chain amino acids and their connection with sleep,circadian rhythms,and cardiometabolic health

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Neural Regeneration Research 2025年第5期20卷 1350-1363页

作者： Hui Li Laurent Seugnet Department of Neurology Xijing HospitalXi’anShaanxi ProvinceChina Centre de Recherche en Neurosciences de Lyon Integrated Physiology of the Brain Arousal Systems(WAKING)UniversitéClaude Bernard Lyon 1INSERM U1028CNRS UMR 5292BronFrance

The sleep-wake cycle stands as an integrative process essential for sustaining optimal brain function and,either directly or indirectly,overall body health,encompassing metabolic and cardiovascular *** the heightened metabolic activity of the brain,there exists a considerable demand for nutrients in comparison to other *** these,the branched-chain amino acids,comprising leucine,isoleucine,and valine,display distinctive significance,from their contribution to protein structure to their involvement in overall metabolism,especially in cerebral *** the first amino acids that are released into circulation post-food intake,branched-chain amino acids assume a pivotal role in the regulation of protein synthesis,modulating insulin secretion and the amino acid sensing pathway of target of ***-chain amino acids are key players in influencing the brain's uptake of monoamine precursors,competing for a shared *** their involvement in protein synthesis,these amino acids contribute to the metabolic cycles ofγ-aminobutyric acid and glutamate,as well as energy ***,they impact GABAergic neurons and the excitation/inhibition *** rhythmicity of branchedchain amino acids in plasma concentrations,observed over a 24-hour cycle and conserved in rodent models,is under circadian clock *** mechanisms underlying those rhythms and the physiological consequences of their disruption are not fully *** sleep,obesity,diabetes,and cardiovascular diseases can elevate branched-chain amino acid concentrations or modify their oscillatory *** mechanisms driving these effects are currently the focal point of ongoing research efforts,since normalizing branched-chain amino acid levels has the ability to alleviate the severity of these *** this context,the Drosophila model,though underutilized,holds promise in shedding new light on these *** findings indicate its po

关键词： branched-chain amino acids cardiovascular health circadian clock drosophila insulin metabolism sleep γ-aminobutyric acid

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Systematic review of risk factors,prognosis,and management of colorectal signet-ring cell carcinoma

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World Journal of Gastrointestinal Oncology 2024年第5期16卷 2141-2158页

作者： Frederiek Nuytens Vincent Drubay Clarisse Eveno Florence Renaud Guillaume Piessen Department of Digestive and Oncological Surgery University LilleClaude Huriez University HospitalLille 59000France Department of Digestive and Hepatobiliary/Pancreatic Surgery AZ GroeningeKortrijk 8500Belgium Cambrai Hospital Center and Sainte Marie Group of Hospitals of The Catholic Institute of LilleCambrai 59400France CNRS InsermUMR9020-U1277-CANTHER-CancerUniversity LilleCHU LilleLille 59000France

BACKGROuND Colorectal signet-ring cell carcinoma(CSRCC)is a rare clinical entity which accounts for approximately 1%of all colorectal *** multiple studies concerning this specific topic have been published in the past decades,the pathogenesis,associated risk factors,and potential implications on treatment are still poorly *** the low incidence,historically confusing histological criteria have resulted in confusing ***,the rising incidence of CSRCC along with relatively young age at presentation and associated dismal prognosis,highlight the actual interest to synthesize the known literature regarding *** To provide an updated overview of risk factors,prognosis,and management of *** A literature search in the MEDLINE/PubMed database was conducted with the following search terms used:‘Signet ring cell carcinoma’and‘colorectal’.Studies in English language,published after January 1980,were *** included in the qualitative synthesis were evaluated for content concerning epidemiology,risk factors,and clinical,diagnostic,histological,and molecular features,as well as metastatic pattern and therapeutic *** possible,presented data was extracted in order to present a more detailed overview of the *** In total,67 articles were included for qualitative analysis,of which 54 were eligible for detailed data *** has a reported incidence between 0.1%-2.4%and frequently presents with advanced disease stage at the time of *** is associated with an impaired overall survival(5-year OS:0%-46%)and a worse stagecorrected outcome compared to mucinous and not otherwise specified *** systematic use of exploratory laparoscopy to determine the presence of peritoneal metastases has been *** is the mainstay of treatment,although the rates of curative resection in CSRCC(21%-82%)are lower compared to those in other histological *** case of peritoneal

关键词： Colorectal cancer Signet-ring cell histology Poorly cohesive cells Systematic review Risk factors Prognosis Therapeutic management

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Advances in spinal cord injury:insights from non-human primates

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Neural Regeneration Research 2024年第11期19卷 2354-2364页

作者： Gaetan Poulen Florence E.Perrin university of Montpellier INSERMEPHEMontpellierFrance Department of Neurosurgery Gui de Chauliac HospitalMontpellier University Medical CenterMontpellierFrance Institut universitaire de France(IuF) ParisFrance

Spinal cord injury results in significant sensorimotor deficits,currently,there is no curative treatment for the symptoms induced by spinal cord *** and pre-clinical research on spinal cord injury relies on the development and characterization of appropriate animal *** models should replicate the symptoms observed in human,allowing for the exploration of functional deficits and investigation into various aspects of physiopathology of spinal cord ***-human primates,due to their close phylogenetic association with humans,share more neuroanatomical,genetic,and physiological similarities with humans than ***,the responses to spinal cord injury in nonhuman primates most likely resemble the responses to traumatism in *** this review,we will discuss nonhuman primate models of spinal cord injury,focusing on in vivo assessments,including behavioral tests,magnetic resonance imaging,and electrical activity recordings,as well as ex vivo histological ***,we will present therapeutic strategies developed in non-human primates and discuss the unique specificities of non-human primate models of spinal cord injury.

关键词： behavior cellular analysis non-human primates spinal cord injury tissue analysis

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Late-onset Very long-chain acyl-CoA dehydrogenase deficiency diagnosis complicated by fulminant myocarditis in adult patient

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Journal of Intensive Medicine 2024年第3期4卷 400-402页

作者： Martin Gérard Clair Douillard Julien Poissy Mehdi Marzouk Christophe Vinsonneau Intensive Care unit Centre Hospitalier de Bethune-BeuvryBethuneFrance Endocrinology diabetologymetabolism departmentLille reference centre of inborn errors of metabolismLille University HospitalLilleFrance inserm u1285 CHU LillePôle de réanimationCNRSUMR 8576-UGSF-Unitéde Glycobiologie Structurale et FonctionnelleUniv.LilleLilleFrance

Introduction A 21-year-old woman presented to the emergency department with fatigue,abdominal pain and *** physical activity in school was strictly *** had no family medical history and no personal history but reported frequent episodes of nausea and vomiting lasting 2 to 7 days during the past two years,as well as a weight loss of 9 kg due to reactive anorexia(Body Mass Index 17.5),without triggering factors or *** gastrointestinal symptoms led to the detection of isolated elevated transaminases(aspartate aminotransferase[AST]190 u/L and alanine aminotransferase[ALT]170 u/L);however,the patient did not pursue the proposed etiological *** has been using cannabis once a day for several years,with an increase in consumption over the past year,but no *** reported no other recent change in her habits.

关键词： diagnosis patient elevated

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Adult neurogenesis:a real hope or a delusion?

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Neural Regeneration Research 2024年第1期19卷 6-15页

作者： Ghulam Hussain Rabia Akram Haseeb Anwar Faiqa Sajid Tehreem Iman Hyung Soo Han Chand Raza Jose-Luis Gonzalez De Aguilar Neurochemicalbiology and Genetics Laboratory(NGL) Department of PhysiologyFaculty of Life SciencesGovernment College UniversityFaisalabadPunjabPakistan Department of Physiology School of MedicineClinical Omics InstituteKyungpook National UniversityDaeguKorea Department of Zoology Faculty of Chemistry and Life SciencesGovernment College UniversityLahorePakistan inserm U1118Mécanismes Centraux et Péripheriques de la NeurodégénérescenceStrasbourgFranceUniversitéde StrasbourgStrasbourgFrance

Adult neurogenesis,the process of creating new neurons,involves the coordinated division,migration,and differentiation of neural stem *** process is restricted to neurogenic niches located in two distinct areas of the brain:the subgranular zone of the dentate gyrus of the hippocampus and the subventricular zone of the lateral ventricle,where new neurons are generated and then migrate to the olfactory *** has been thought to occur only during the embryonic and early postnatal stages and to decline with age due to a continuous depletion of neural stem ***,recent years have seen tremendous progress in our understanding of adult brain neurogenesis,bridging the knowledge gap between embryonic and adult ***,we discuss the current status of adult brain neurogenesis in light of what we know about neural stem *** this notion,we talk about the importance of intra cellular signaling molecules in mobilizing endogenous neural stem cell prolife *** on the current understanding,we can declare that these molecules play a role in targeting neurogenesis in the mature ***,to achieve this goal,we need to avoid the undesired proliferation of neural stem cells by controlling the necessary checkpoints,which can lead to tumorigenesis and prove to be a curse instead of a blessing or hope.

关键词： adult neurogenesis aging brain-derived neurotrophic factor dentate gyrus hippocampus neural stem cells neurotrophic factors Notch oxidative stress stem cells subgranular zone

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Targeted therapy for capillary-venous malformations

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Signal Transduction and Targeted Therapy 2024年第7期9卷 3024-3039页

作者： Lola Zerbib Sophia Ladraa Antoine Fraissenon Charles Bayard Marina Firpion Quitterie Venot Sanela Protic Clément Hoguin Amandine Thomas Sylvie Fraitag Jean-Paul Duong Sophie Kaltenbach Estelle Balducci Coline Lefevre Patrick Villarese Vahid Asnafi Christine Broissand Nicolas Goudin Ivan Nemazanyy Gwennhael Autret Bertrand Tavitian Christophe Legendre Nadia Arzouk Veronique Minard-Colin Caroline Chopinet Michael Dussiot Denise MAdams Tristan Mirault Laurent Guibaud Paul Isenring Guillaume Canaud universitéParis Cité ParisFrance inserm u1151 Institut Necker-Enfants MaladesParisFrance Service d’Imagerie Pédiatrique Hôpital Femme-Mère-EnfantHCLBronFrance CREATIS uMR 5220 Villeurbanne 69100France Service de Radiologie Mère-Enfant Hôpital NordSaint EtienneFrance Service d’Anatomie pathologique Hôpital Necker-Enfants MaladesAP-HPParisFrance Laboratoire d’Oncohématologie Hôpital Necker-Enfants MaladesAP-HPParisFrance Pharmacie Hôpital Necker-Enfants MaladesAP-HPParisFrance Necker Bio-Image Analysis INSERM US24/CNRS UMS 3633ParisFrance Platform for Metabolic Analyses Structure Fédérative de Recherche NeckerINSERM US24/CNRS UMS 3633ParisFrance Plateforme Imageries du Vivant Universitéde ParisPARCCINSERMParisFrance Service de Néphrologie Transplantation AdultesHôpital Necker-Enfants MaladesAP-HPParisFrance Service de Transplantation Hôpital La PitiéSalpétrièreAP-HPParisFrance Department of Pediatric and Adolescent Oncology INSERM 1015Gustave RoussyUniversitéParis-SaclayVillejuifFrance Service de Physiologie&Explorations Fonctionnelles Cardiovasculaires CHU de LilleLille 59000France inserm u1163 Laboratory of Cellular and Molecular Mechanisms of Hematological Disorders and Therapeutic ImplicationsLaboratoire d’Excellence GR-ExParisFrance Division of Oncology Comprehensive Vascular Anomalies ProgramChildren’s Hospital of PhiladelphiaPhiladelphiaPAUSA Service de Médecine Vasculaire hôpital Européen Georges-PompidouParisFrance Nephrology Research Group L’Hôtel-Dieu de Québec Research CenterDepartment of MedicineFaculty of MedicineLaval UniversityQuebecQC G1R2J6Canada unitéde médecine translationnelle et thérapies ciblées Hôpital Necker-Enfants MaladesAP-HPParisFrance CNRS uMR8253 Institut Necker-Enfants MaladesParisFrance

Sporadic venous malformations are genetic conditions primarily caused by somatic gain-of-function mutation of PIK3CA or TEK,an endothelial transmembrane receptor signaling through *** malformations are associated with pain,bleedings,thrombosis,pulmonary embolism,esthetic deformities and,in severe cases,life-threatening *** authorized medical treatment exists for patients with venous ***,we created a genetic mouse model of PIK3CA-related capillary venous malformations that replicates patient *** showed that these malformations only partially signal through AKT *** compared the efficacy of different drugs,including rapamycin,a mTORC1 inhibitor,miransertib,an AKT inhibitor and alpelisib,a PI3Kαinhibitor at improving the lesions seen in the mouse *** demonstrated the effectiveness of alpelisib in preventing vascular malformations’occurrence,improving the already established ones,and prolonging *** these findings,we were authorized to treat 25 patients with alpelisib,including 7 children displaying PIK3CA(n=16)or TEK(n=9)-related capillary venous malformations resistant to usual therapies including sirolimus,debulking surgical procedures or percutaneous *** assessed the volume of vascular malformations using magnetic resonance imaging(MRI)for each *** demonstrated improvement in all 25 *** malformations previously considered intractable were reduced and clinical symptoms were *** showed a decrease of 33.4%and 27.8%in the median volume of PIK3CA and TEK malformations respectively,over 6 months on *** conclusion,this study supports PI3Kαinhibition as a promising therapeutic strategy in patients with PIK3CA or TEK-related capillary venous malformations.

关键词： PIK3CA malformations venous

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Influence of ambient water coloration on habitat and conspecific choice in the female Lake Malawi cichlid, Metriaclima zebra

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Current Zoology 2024年第2期70卷 214-224页

作者： Noori Choj Nicolas Mathevon Eileen A.Hebets Marilyn Beauchaud School of Biological Sciences University of Nebraska-LincolnLincolnNEUSA ENES Bioacoustics Research Laboratory CRNLCNRSInsermUniversite de Saint-EtienneSaint-EtienneFrance Max Planck Institute of Animal Behavior KonstanzGerman

Female cichlid fish living in African great lakes are known to have sensory systems that are adapted to ambient light *** sen-sory system adaptations are hypothesized to have influenced the evolution of the diverse male nuptial *** rock-dwelling Lake Malawi mbuna cichlids,however,the extent to which ambient light environments influence female sensory systems and potentially associated male nuptial coloration remains ***,the ubiquitous blue flank coloration and uV reflection of male mbuna cichlids suggest the potential impacts of the blue-shifted ambient light environment on these cichlid's visual perception and male nuptial coloration in the shallow water depth in Lake *** the present study,we explored whether and how the sensory bias of females influences intersexual communication in the mbuna cichlid,Metriaclima zebra.A series of choice experiments in various light environments showed that *** females (1)have a pref-erence for the blue-shifted light environment,(2)prefer to interact with males in blue-shifted light environments,(3)do not show a preference between dominant and subordinate males in full-spectrum,long-wavelength filtered,and short-wavelength filtered light environments,and (4)show a"reversed"preference for subordinate males in the uV-filtered light *** results suggest that the visual perception of *** females may be biased to the ambient light spectra in their natural habitat by local adaptation and that this sensory bias may influence the evolution of blueand uV reflectivepatterns in male nuptial coloration.

关键词： ambient light environment Lake Malawi male coloration mbuna cichlids Metriaclima zebra sensory bias uV coloration uV perception visual communication.

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Rare dentin defects:understanding the pathophysiological mechanisms of COLXVA1 mutations

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Genes & Diseases 2024年第5期11卷 1-5页

作者： Isaac Maximiliano Bugueno Tristan Rey Alexandra Jimenez-Armijo Marzena Kawczynski Naji Kharouf Marie-Cecile Maniere Yann Herault Agnes Bloch-Zupan Virginie HaushalterLaugel Institute of Genetics and Molecular and Cellular Biology(IGBMC) CNRS-UMR7104INSERM U1258Universitede StrasbourgIllkirch 67400France Faculty of Dentistry Universitede StrasbourgStrasbourg 67000France Institute of Advanced Studies(uSIAS) Universitede StrasbourgStrasbourg 67045France Reference Center for Rare Oral and Dental Diseases(CRMR-O-Rares) Oral Medicine and Surgery DepartmentHopitaux Universitaires de Strasbourg(HUS)Strasbourg 67000France Rare Diseases Health Network“TETE COu”&European Reference Network ERN CRANIO Strasbourg 67000France “Institut de Genetique Medicale d’Alsace” Laboratory of Genetic DiagnosticHopitaux Universitaires de Strasbourg(HUS)Strasbourg 67000France Biomaterials and Bioengineering Laboratory Inserm UMR_S 1121Strasbourg 67000France Orofacial Development and Regeneration Faculty of MedicineInstitute of Oral BiologyCentre of Dental MedicineUniversity of ZurichZurich 8032Switzerland

Dentin is a mineralized tissue with a chemical composition similar to bone but with a higher mineralized density and *** constitutes the central structure of the tooth between the internal pulp and external enamel toward the oral cavity or cementum toward the underlying *** dentin defects occur in a variety of rare genetic *** can manifest as“isolated”occurrences such as in dentinogenesis imperfecta(DI)or dentin dysplasia(DD)or can be associated with other symptoms in diseases such as osteogenesis imperfecta,Goldblatt syndrome,microcephalic osteodysplastic primordial dwarfism type Ⅱ,among others.

关键词： diseases den rigidity

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Multi-Compartment SCFA Quantification in Human

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American Journal of Analytical Chemistry 2024年第6期15卷 177-200页

作者： Jérémy Monteiro Antoine Lefèvre Diane Dufour-Rainfray Adeline Oury Gabrielle Chicheri Laurent Galineau Hélène Blasco Lydie Nadal-Desbarats Patrick Emond Imaging Brain & Neuropsychiatry iBraiN u1253 Universit de Tours INSERM MetaboHub Tours Tours France CHRu de Tours Service de Mdecine Nuclaire in Vitro Tours France Service de Biochimie et Biologie Molculaire CHRU Tours France

Short-chain fatty acids (SCFA) play an important role in human biochemistry. They originate primarily from the digestive system through carbohydrates microbial fermentation. Most SCFA produced in the colon are absorbed by the intestinal wall and enter the bloodstream to be distributed throughout the body for multiple purposes. At the intestinal level, SCFA play a role in controlling fat storage and fatty acid metabolism. The effects of these beneficial compounds therefore concern overall health. They facilitate energy expenditure and are valuable allies in the fight against obesity and diabetes. SCFA are also involved in the regulation of the levels of several neurotransmitters such as GABA (γ-aminobutyric acid), glutamate, serotonin, dopamine, and norepinephrine. Their role is also highlighted in many inflammatory and neurodegenerative diseases such as Alzheimer’s disease (AD) or Parkinson’s disease (PD). To have a realistic picture of the distribution of SCFA in different biological compartments of the human body, we propose to study SCFA simultaneously in five human biological samples: feces, saliva, serum, cerebrospinal fluid (CSF), and urine, as well as in Dried Blood Spot (DBS). To evaluate their concentration and repeatability, we used 10 aliquots from pooled samples, analyzed by 3-nitrophenylhydrazine (3-NPH) derivation and liquid chromatography coupled with high sensitivity mass spectrometry (LC-QqQ-MS). We also evaluated the SCFA assay on Dried Blood Spot (DBS). In this work, we adapted the pre-analytical parts for each sample to be able to use a common calibration curve, thus facilitating multi-assay quantification studies and so being less time-consuming. Moreover, we proposed new daughter ions from the same neutral loss (43 Da) to quantify SCFAs, thus improving the sensitivity. In conclusion, our methodology, based on a unique calibration curve for all samples for each SCFA, is well-suited to quantified them in a clinical context.

关键词： LC-MS 3-Nitrophenylhydrazine Short-Chain Fatty Acids Human Biological Samples Quantification

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Factors associated with decreased compliance after on-site extracorporeal membrane oxygenation cannulation for acute respiratory distress syndrome:A retrospective,observational cohort study

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Journal of Intensive Medicine 2024年第2期4卷 194-201页

作者： Sylvain Le Pape Florent Joly François Arrivé Jean-Pierre Frat Maeva Rodriguez Maïa Joos Laura Marchasson Mathilde Wairy Arnaud WThille Rémi Coudroy Centre Hospitalier universitaire de Poitiers Service de Médecine Intensive RéanimationPoitiersFrance inserm Centre d'Investigation Clinique 1402 IS-ALIVE Research GroupUniversitéde PoitiersPoitiersFrance

Background Extracorporeal membrane oxygenation(ECMO)for acute respiratory distress syndrome(ARDS)is systematically associated with decreased respiratory system compliance(CRS).It remains unclear whether transportation to the referral ECMO center,changes in ventilatory mode or settings to achieve ultra-protective ventilation,or the natural evolution of ARDS drives this change in respiratory ***,we assessed the precise moment when CRS decreases after ECMO cannulation and identified factors associated with decreased *** To rule out the effect of transportation and the different modes of ventilation on CRS,we conducted a retrospective,single-center,observational cohort study from January 2013 to May 2020,on 22 patients with severe ARDS requiring on-site ECMO and ventilated in pressure-controlled mode to achieve ultra-protective *** was assessed at different time points ranging from 12 h before ECMO cannulation to 72 h after ECMO *** primary outcome was the relative change in CRS between 3 h before and 3 h after ECMO *** secondary outcomes included variables associated with the relative changes in CRS within the first 3 h after ECMO cannulation and the relative changes in CRS at each time *** CRS decreased within the first 3 h after ECMO cannulation(−28.3%,95%confidence interval[CI]:−38.8 to−17.9,Pultra-protective ventilation,respiratory rate decreased in the mean by–13 breaths/min(95%CI:−15 to−11)and driving pressure by−8.3 cmH2O(95%CI:−11.2 to−5.3),resulting in decreased tidal volume by−3.3 mL/kg of predicted body weight(95%CI:−3.9 to−2.6)as compared to before ECMO cannulation(Pu pressure reduction,driving pressure reduction,and tidal volume reduction were significantly associated with decreased CRS after ECMO cannulation,whereas neither respiratory rate,positive end-expiratory pr

关键词： Acute respiratory distress syndrome Extracorporeal membrane oxygenation Driving pressure Respiratory compliance

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