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Neurological presentations and cognitive outcome in Sturge-Weber syndrome.

Eur J Paediatr Neurol 2021 Jul 9;34:21-32. Epub 2021 Jul 9.

Great Ormond Street Hospital for Children Neurodisability Department, Great Ormond Street, UCL Great Ormond Street Institute of Child Health Clinical Neurosciences, London, United Kingdom.

Introduction: This study of children with Sturge-Weber syndrome (SWS) profiled neurological presentations; compared patients with (+) and without (-) port-wine stain (PWS); and determined risk factors for intellectual and language impairments.

Methods: A retrospective case note review was conducted at a national centre.

Results: This cohort (n = 140, male 72, median follow up 114 months) showed sex parity. Read More

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Prenatal exposure to per- and polyfluoroalkyl substances (PFAS) and associations with attention-deficit/hyperactivity disorder and autism spectrum disorder in children.

Environ Res 2021 Jul 19:111692. Epub 2021 Jul 19.

Division of Mental and Physical Health, Norwegian Institute of Public Health, PO Box 222, Skøyen, N-0213, Oslo, Norway.

Background: Prenatal exposure to per- and polyfluoroalkyl substances (PFAS) may be a risk factor for neurodevelopmental deficits and disorders, but evidence is inconsistent.

Objectives: We investigated whether prenatal exposure to PFAS were associated with childhood diagnosis of attention-deficit/hyperactivity disorder (ADHD) or autism spectrum disorder (ASD).

Methods: This study was based on the Norwegian Mother, Father and Child Cohort Study and included n = 821 ADHD cases, n = 400 ASD cases and n = 980 controls. Read More

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Transgenerational evidence of increases in dopamine D2 receptor sensitivity in rodents: Impact on sensorimotor gating, the behavioral response to nicotine and BDNF.

J Psychopharmacol 2021 Jul 22:2698811211033927. Epub 2021 Jul 22.

James H. Quillen College of Medicine, East Tennessee State University, Johnson City, TN, USA.

Background/aims: Neonatal quinpirole (NQ) treatment to rats increases dopamine D (DAD) receptor sensitivity in adult animals. We investigated if increased DAD sensitivity would be passed to the next (F1) generation, and if these animals demonstrated sensorimotor gating deficits and enhanced behavioral responses to nicotine.

Methods: Male and female rats were intraperitoneal (IP) administered quinpirole (1 mg/kg) or saline (NS) from postnatal day (P)1-21. Read More

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Knockdown of astrocytic Grin2a aggravates β-amyloid-induced memory and cognitive deficits through regulating nerve growth factor.

Aging Cell 2021 Jul 22:e13437. Epub 2021 Jul 22.

Beijing Key Laboratory of Neural Regeneration and Repair, Department of Anatomy, School of Basic Medical Sciences, Beijing Institute of Brain Disorders, Capital Medical University, Beijing, China.

Synapse degeneration correlates strongly with cognitive impairments in Alzheimer's disease (AD) patients. Soluble Amyloid-beta (Aβ) oligomers are thought as the major trigger of synaptic malfunctions. Our earlier studies have demonstrated that Aβ oligomers interfere with synaptic function through N-methyl-D-aspartate receptors (NMDARs). Read More

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Sexual knowledge and behaviour in 22q11.2 deletion syndrome, a complex care condition.

J Appl Res Intellect Disabil 2021 Jul 21. Epub 2021 Jul 21.

The Dalglish Family 22q Clinic for Adults with 22q11.2 Deletion Syndrome, University Health Network, Toronto, Ontario, Canada.

Background: There is limited information about sexual knowledge and behaviours in adults with complex care needs, including those with 22q11.2 deletion syndrome (22q) which represents a group predisposed to intellectual disabilities.

Methods: We conducted sexual health assessments with 67 adults with 22q, examining whether those with knowledge deficits and a history of engaging in sexual activities with others would be more likely to engage in high-risk behaviours. Read More

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Problem-solving deficits in methcathinone use disorder.

Psychopharmacology (Berl) 2021 Jul 22. Epub 2021 Jul 22.

Shanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Wanping South Road 600, Xuhui, Shanghai, China.

Rationale: The use of methcathinone (MCAT), a psychostimulant drug that can lead to long-term health risks and executive dysfunction, increased to an alarming rate in recent years. Impairments in low-level executive function have been reported in substance use disorder. However, little empirical evidence is available regarding high-level executive function (e. Read More

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Sexually dimorphic neuroanatomical differences relate to ASD-relevant behavioral outcomes in a maternal autoantibody mouse model.

Mol Psychiatry 2021 Jul 21. Epub 2021 Jul 21.

Department of Internal Medicine, Division of Rheumatology, Allergy, and Clinical Immunology, University of California, Davis, CA, USA.

Immunoglobulin G (IgG) autoantibodies reactive to fetal brain proteins in mothers of children with ASD have been described by several groups. To understand their pathologic significance, we developed a mouse model of maternal autoantibody related ASD (MAR-ASD) utilizing the peptide epitopes from human autoantibody reactivity patterns. Male and female offspring prenatally exposed to the salient maternal autoantibodies displayed robust deficits in social interactions and increased repetitive self-grooming behaviors as juveniles and adults. Read More

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Prephase rituximab/prednisone therapy and aging-related, pro-inflammatory cytokine milieu in older, vulnerable patients with newly diagnosed diffuse large B-cell lymphoma

Haematologica 2021 07 22. Epub 2021 Jul 22.

Department of Medicine, Division of Hematologic Malignancies, Memorial Sloan Kettering Cancer Center, New York, NY; Department of Medicine, Weill Cornell Medical College, New York.

Diffuse large B-cell lymphoma (DLBCL) predominantly affects older adults with suboptimal therapeutic outcomes due to increased treatment-related mortality and toxicities in vulnerable patients, clinically defined by geriatric impairments such as functional limitation, multimorbidity, or cognitive deficits. In this prospective pilot study, we evaluated a rituximab/prednisone prephase treatment strategy in 33 older, vulnerable patients with newly diagnosed DLBCL, defined by either age ≥70 years or age 60-70 years with Karnofsky performance scale (KPS). Read More

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Neuroimaging correlates of brain injury in Wilson's disease: a multimodal, whole-brain MRI study.

Brain 2021 Jul 20. Epub 2021 Jul 20.

Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, London, WC1N 1PJ, UK.

Wilson's disease is an autosomal-recessive disorder of copper metabolism with neurological and hepatic presentations. Chelation therapy is used to 'de-copper' patients but neurological outcomes remain unpredictable. A range of neuroimaging abnormalities have been described and may provide insights into disease mechanisms, in addition to prognostic and monitoring biomarkers. Read More

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Ephedrine alleviates middle cerebral artery occlusion-induced neurological deficits and hippocampal neuronal damage in rats by activating PI3K/AKT signaling pathway.

Bioengineered 2021 Dec;12(1):4136-4149

Encephalopathy, Beijing University of Traditional Chinese Medicine, Dong Zhi Men Hospital, Tongzhou Hospital Area, Beijing, China.

Inflammation and oxidative stress are crucial in ischemic stroke. Ephedrine (EPH) has been proven to have anti-inflammatory and anti-oxidative stress effects. The present study analyzes whether EPH possessed neuroprotective effects and explored the underlying mechanisms of EPH based on an experimental model of middle cerebral artery occlusion (MCAO). Read More

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December 2021

The brain basis of handwriting deficits in Chinese children with developmental dyslexia.

Dev Sci 2021 Jul 20. Epub 2021 Jul 20.

Center for Brain Disorders and Cognitive Sciences, Shenzhen University, Shenzhen, 518060, China.

Abundant behavioral studies have demonstrated high comorbidity of reading and handwriting difficulties in developmental dyslexia (DD), a neurological condition characterized by unexpectedly low reading ability despite adequate nonverbal intelligence and typical schooling. The neural correlates of handwriting deficits remain largely unknown, however, as well as the extent that handwriting deficits share common neural bases with reading deficits in DD. The present work used functional magnetic resonance imaging (fMRI) to examine brain activity during handwriting and reading tasks in Chinese dyslexic children (n = 18) and age-matched controls (n = 23). Read More

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Natural History of Polymerase Gamma-Related Ataxia.

Mov Disord 2021 Jul 20. Epub 2021 Jul 20.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tuebingen, Tuebingen, Germany.

Background: Mutations in the mitochondrial DNA polymerase gamma are causing a wide phenotypic spectrum including ataxia as one of the most common presentations.

Objective: The objective of this study was to determine the course of disease of polymerase gamma-related ataxia.

Methods: In a prospective natural history study, we assessed 24 adult ataxia patients with biallelic polymerase gamma mutations for (1) severity of cerebellar dysfunction using the Scale for the Assessment and Rating of Ataxia score, (2) presence of nonataxia signs using the Inventory of Non-Ataxia Symptoms, (3) gray- and white-matter changes in brain MRI, and (4) findings in nerve conduction studies. Read More

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Real-time cognitive performance and positive symptom expression in schizophrenia.

Eur Arch Psychiatry Clin Neurosci 2021 Jul 21. Epub 2021 Jul 21.

Institut de Neurosciences Cognitives et Intégratives d'Aquitaine (INCIA), University of Bordeaux/CNRS-UMR 5287, Bordeaux, France.

Deficits in cognitive functions are frequent in schizophrenia and are often conceptualized as stable characteristics of this disorder. However, cognitive capacities may fluctuate over the course of a day and it is unknown if such variation may be linked to the dynamic expression of psychotic symptoms. This investigation used Ecological Momentary Assessment (EMA) to provide mobile tests of cognitive functions and positive symptoms in real time. Read More

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Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders.

Autophagy 2021 Jul 21:1-20. Epub 2021 Jul 21.

Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.

Macroautophagy (hereafter referred to as autophagy) is a finely tuned process of programmed degradation and recycling of proteins and cellular components, which is crucial in neuronal function and synaptic integrity. Mounting evidence implicates chromatin remodeling in fine-tuning autophagy pathways. However, this epigenetic regulation is poorly understood in neurons. Read More

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Aiding and Abetting Anhedonia: Impact of Inflammation on the Brain and Pharmacological Implications.

Pharmacol Rev 2021 Jul;73(3):1084-1117

Emory Behavioral Immunology Program, Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, Atlanta, Georgia (M.J.L., M.B., D.R.G., E.H., J.C.F., A.H.M.); and Department of Psychology, Emory University, Atlanta, Georgia (M.T.T.)

Exogenous administration of inflammatory stimuli to humans and laboratory animals and chronic endogenous inflammatory states lead to motivational deficits and ultimately anhedonia, a core and disabling symptom of depression present in multiple other psychiatric disorders. Inflammation impacts neurotransmitter systems and neurocircuits in subcortical brain regions including the ventral striatum, which serves as an integration point for reward processing and motivational decision-making. Many mechanisms contribute to these effects of inflammation, including decreased synthesis, release and reuptake of dopamine, increased synaptic and extrasynaptic glutamate, and activation of kynurenine pathway metabolites including quinolinic acid. Read More

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Acupuncture inhibits mammalian target of rapamycin, promotes autophagy and attenuates neurological deficits in a rat model of hemorrhagic stroke.

Acupunct Med 2021 Jul 20:9645284211028873. Epub 2021 Jul 20.

Heilongjiang University of Chinese Medicine, Harbin, China.

Background: Intracerebral hemorrhage (ICH) accounts for approximately 15% of all stroke cases. Previous studies suggested that acupuncture may improve ICH-induced neurological deficits. Therefore, we investigated the effects of acupuncture on neurological deficits in an animal model of ICH. Read More

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Resveratrol prevented spatial deficits and rescued disarrayed hippocampus asymmetric dimethylarginine and brain-derived neurotrophic factor levels in young rats with increased circulating asymmetric dimethylarginine.

Neuroreport 2021 Jul 19. Epub 2021 Jul 19.

Department of Pediatrics Anesthesiology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine Department of Pediatrics, Chiayi Chang Gung Memorial Hospital, Chiayi County, Puzi City, Taiwan.

Increased plasma levels of asymmetric dimethylarginine can be encountered in chronic inflammatory disease, liver damage, renal failure, and multiple organ failure. In addition, an association between circulating asymmetric dimethylarginine levels and all-cause mortality has been reported. Male Sprague-Dawley rats, postnatal day 17 ± 1, received continuous asymmetric dimethylarginine infusion via an intraperitoneal pump. Read More

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Maternal corticosteroids and depression during gestation and decreased fetal heart rate variability.

Neuroreport 2021 Jul 19. Epub 2021 Jul 19.

Department of Psychiatry Department of Cell and Developmental Biology Department of Medicine Department of Anesthesiology, iC42 Clinical Research and Development Department of Obstetrics and Gynecology, Division of Maternal and Fetal Medicine, University of Colorado Denver School of Medicine Pediatric Mental Health Institute, Children's Hospital Colorado, Aurora, Colorado, USA.

Objective: Maternal depression during gestation is an adverse factor in fetal brain development that manifests in later childhood behavioral problems. Fetal heart rate variability (FHRV) mediated by parasympathetic input is a marker of gestational nervous system development. Biological mediators of adverse effects of maternal depression may involve the mother's corticosteroids; however, links between depression, corticosteroids, and early nervous system development remain inconclusive. Read More

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Short-term dietary restriction maintains synaptic plasticity whereas short-term overfeeding alters cellular dynamics in the aged brain: evidence from the zebrafish model organism.

Neurobiol Aging 2021 Jun 19;106:169-182. Epub 2021 Jun 19.

Interdisciplinary Program in Neuroscience, Aysel Sabuncu Brain Research Center, Bilkent University, Ankara, Turkey; National Nanotechnology Research Center (UNAM), Bilkent University, Ankara, Turkey; Department of Molecular Biology and Genetics, Zebrafish Facility, Bilkent University, Ankara, Turkey; Department of Psychology, Bilkent University, Ankara, Turkey. Electronic address:

Increased caloric intake (OF) impairs quality of life causing comorbidities with other diseases and cognitive deficits, whereas dietary restriction (DR) increases healthspan by preventing age-related deteriorations. To understand the effects of these opposing dietary regimens on the cellular and synaptic dynamics during brain aging, the zebrafish model, which shows gradual aging like mammals, was utilized. Global changes in cellular and synaptic markers with respect to age and a 12 week dietary regimen of OF and DR demonstrated that aging reduces the levels of the glutamate receptor subunits, GLUR2/3, inhibitory synaptic clustering protein, GEP, synaptic vesicle protein, SYP, and early-differentiated neuronal marker, HuC. Read More

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Aging and miR-155 in mice influence survival and neuropathic pain after spinal cord injury.

Brain Behav Immun 2021 Jul 17. Epub 2021 Jul 17.

Department of Psychology and Neuroscience, University of Colorado Boulder, 2860 Wilderness Place, UCB 603, Boulder, CO 80301, USA; Center for Neuroscience, University of Colorado Boulder, 2860 Wilderness Place, UCB 603, Boulder, CO 80301, USA. Electronic address:

Spinal cord injury (SCI) elicits chronic pain in 65% of individuals. In addition, SCI afflicts an increasing number of aged individuals, and those with SCI are predisposed to shorter lifespan. Our group previously identified that deletion of the microRNA miR-155 reduced neuroinflammation and locomotor deficits after SCI. Read More

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24-Epibrassinolide modulates the neurodevelopmental outcomes of high caffeine exposure in zebrafish (Danio rerio) embryos.

Comp Biochem Physiol C Toxicol Pharmacol 2021 Jul 17:109143. Epub 2021 Jul 17.

Centre for the Research and Technology of Agro-Environmental and Biological Sciences (CITAB), University of Trás-os-Montes and Alto Douro (UTAD), Vila Real, Portugal; Veterinary and Animal Science Research Center (CECAV), University of Trás-os-Montes e Alto Douro, 5000-801 Vila Real, Portugal; Department of Animal Science, School of Agrarian and Veterinary Sciences (ECAV), University of Trás-os-Montes and Alto Douro (UTAD), Vila Real, Portugal.

Previous embryonic fish data have shown caffeine to induce potential teratogenic and long-term neurodevelopmental outcomes through oxidative stress-mediated apoptosis. In this context, antioxidants may have the potential to counteract the caffeine-induced effects. Therefore, the present study aimed to investigate the potential protective role of 24-epibrassinolide (24-EPI), a natural brassinosteroid with proven antioxidant properties, against caffeine-induced teratogenic effects during early zebrafish development. Read More

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Angiogenesis effects of 4-methoxy benzyl alcohol on cerebral ischemia-reperfusion injury via regulation of VEGF-Ang/Tie2 balance.

Can J Physiol Pharmacol 2021 Jul 20. Epub 2021 Jul 20.

Yunnan University of Traditional Chinese Medicine, 177554, Department of Pharmacology, Kunming, China, 650500;

Introduction: Angiogenesis facilitates the formation of microvascular networks and promotes neurological deficit recovery after cerebral ischemia-reperfusion injury (CIRI). This study investigated the angiogenesis effects of 4-methoxy benzyl alcohol (4-MA) on CIRI.

Methods: The angiogenesis effects of 4-MA and the potential underlying mechanisms were assessed based on a middle cerebral artery occlusion/reperfusion (MCAO/R) rat model and a hind limb ischemic (HLI) mouse model. Read More

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Fluoxetine increases brain MeCP2 immuno-positive cells in a female Mecp2 heterozygous mouse model of Rett syndrome through endogenous serotonin.

Sci Rep 2021 Jul 19;11(1):14690. Epub 2021 Jul 19.

Laboratory Neurochemistry and Behavior, Neuroscience Department, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Via Mario Negri 2, 20156, Milan, Italy.

Motor skill deficit is a common and invalidating symptom of Rett syndrome (RTT), a rare disease almost exclusively affecting girls during the first/second year of life. Loss-of-function mutations of the methyl-CpG-binding protein2 (MECP2; Mecp2 in rodents) gene is the cause in most patients. We recently found that fluoxetine, a selective serotonin (5-HT) reuptake inhibitor and antidepressant drug, fully rescued motor coordination deficits in Mecp2 heterozygous (Mecp2 HET) mice acting through brain 5-HT. Read More

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Paraproteinaemic neuropathy: MGUS and beyond.

Pract Neurol 2021 Jul 19. Epub 2021 Jul 19.

National Hospital for Neurology and Neurosurgery, London, UK

Paraproteinaemic neuropathies comprise a heterogeneous group of neuro-haematological conditions with some distinct neurological, haematological and systemic phenotypes. The spectrum of disease varies from mild to severe, indolent to rapidly progressive and from small fibre sensory involvement to dramatic sensorimotor deficits. The haematological association may be overlooked, resulting in delayed treatment, disability, impaired quality of life and increased mortality. Read More

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L5 Radiculopathy After Formal Reduction of High-Grade SDSG Type 5 and 6 L5-S1 Isthmic Spondylolisthesis with 2-Year Follow-Up.

Int J Spine Surg 2021 Jul 19. Epub 2021 Jul 19.

Post-Graduate Program in Health Science, Biomechanics and Musculoskeletal Rehabilitation Laboratory, University Santo Amaro, São Paulo, Brazil.

Background: Surgery is the main treatment for patients with high-grade L5-S1 isthmic spondylolisthesis, which can result in neurologic complications, but little is known about its clinical course. The present study evaluated the presence of L5 radiculopathy in high-grade L5-S1 spondylolisthesis in adults in pre- and postoperative periods and after a 2-year follow-up.

Methods: A series of 16 patients who underwent reduction and instrumented fusion for high-grade 5 and 6 spondylolisthesis between 2018 and 2019 were retrospectively evaluated in the pre- and postoperative periods as well as after 6 weeks, 3 months, 6 months, and 1 and 2 years of follow-up. Read More

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Frailty differences across population characteristics associated with health inequality: a cross-sectional analysis of baseline data from the Canadian Longitudinal Study on Aging (CLSA).

BMJ Open 2021 Jul 19;11(7):e047945. Epub 2021 Jul 19.

Department of Mathematics and Computer Science, Technische Universiteit Eindhoven, Eindhoven, Noord-Brabant, The Netherlands.

Objective: To evaluate the pattern of frailty across several of social stratifiers associated with health inequalities.

Design, Setting And Participants: Cross-sectional baseline data on 51 338 community-living women and men aged 45-85 years from the population-based Canadian Longitudinal Study on Aging (collected from September 2011 to May 2015) were used in this study.

Primary Outcomes And Measures: A Frailty Index (FI) was constructed using self-reported chronic conditions, psychological function and cognitive status and physical functioning variables. Read More

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Hypoactive Thalamic Crh+ Cells in a Female Mouse Model of Alcohol Drinking After Social Trauma.

Biol Psychiatry 2021 Jun 1. Epub 2021 Jun 1.

Department of Psychology, Tufts University, Medford, Massachusetts; Department of Neuroscience, Tufts University, Boston, Massachusetts. Electronic address:

Background: Comorbid stress-induced mood and alcohol use disorders are increasingly prevalent among female patients. Stress exposure can disrupt salience processing and goal-directed decision making, contributing to persistent maladaptive behavioral patterns; these and other stress-sensitive cognitive and behavioral processes rely on dynamic and coordinated signaling by midline and intralaminar thalamic nuclei. Considering the role of social trauma in the trajectory of these debilitating psychopathologies, identifying vulnerable thalamic cells may provide guidance for targeting persistent stress-induced symptoms. Read More

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Asymmetries in Dynamic Valgus Index After Anterior Cruciate Ligament Reconstruction: A Proof-of-Concept Study.

Int J Environ Res Public Health 2021 Jul 1;18(13). Epub 2021 Jul 1.

Department of Physical Therapy, University of Nevada, Las Vegas, 4505 S. Maryland Parkway, Box 453029, Las Vegas, NV 89154, USA.

Individuals with anterior cruciate ligament reconstruction (ACLR) are at a higher risk for subsequent anterior cruciate ligament (ACL) tears. Risk factors for ACL injuries likely involve a combination of anatomical, biomechanical, and neuromuscular factors. Dynamic knee valgus has been indicated as a possible biomechanical factor for future ACL injuries. Read More

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Role of Risk Taking and Inhibitory Control in Alcohol Use Among Maltreated Adolescents and Nonmaltreated Adolescents.

Child Maltreat 2021 Jul 19:10775595211031349. Epub 2021 Jul 19.

Oregon Social Learning Center, Eugene, OR, USA.

Exposure to childhood maltreatment is a significant risk factor for the development and persistence of problematic alcohol use. The present study examined the role of risk taking and inhibitory control, key cognitive processes believed to govern behavioral regulation, as mechanisms that underlie the association between childhood maltreatment and the early stages of alcohol use. A sample of 129 maltreated adolescents and 102 socioeconomic status-matched, nonmaltreated adolescents and their parents completed three annual assessments, including computer-administered tasks and adolescent- and parent-report questionnaires, across ages 12-13 through 14-15 years. Read More

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