keyword
https://read.qxmd.com/read/38647383/identification-of-a-de-novo-puf60-variant-associated-with-craniofacial-microsomia
#1
Takuya Ogawa, Jingyi Xue, Long Guo, Maristela Sayuri Inoue-Arai, Siulan Vendramini-Pittoli, Roseli Maria Zechi-Ceide, Rosana Maria Candido-Souza, Cristiano Tonello, Michele Madeira Brandão, Terumi Okada Ozawa, Adriano Porto Peixoto, Daniela Maria Cury Ferreira Ruiz, Tomoki Nakashima, Shiro Ikegawa, Keiji Moriyama, Nancy Mizue Kokitsu-Nakata
Craniofacial microsomia (CFM), also known as the oculo-auriculo-vertebral spectrum, is a congenital disorder characterized by hypoplasia of the mandible and external ear due to tissue malformations originating from the first and second branchial arches. However, distinguishing it from other syndromes of branchial arch abnormalities is difficult, and causal variants remain unidentified in many cases. In this report, we performed an exome sequencing analysis of a Brazilian family with CFM. The proband was a 12-month-old boy with clinical findings consistent with the diagnostic criteria for CFM, including unilateral mandibular hypoplasia, microtia, and external auditory canal abnormalities...
April 22, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38646212/a-review-of-the-efficacy-of-the-low-fermentable-oligosaccharides-disaccharides-monosaccharides-and-polyols-fodmap-diet-in-managing-gastrointestinal-symptoms-related-to-cancer-treatment
#2
REVIEW
Arwa S Almasaudi
The low fermentable oligosaccharides, disaccharides, monosaccharides, and polyols (FODMAP) diet, designed to alleviate symptoms in individuals with irritable bowel syndrome (IBS), focuses on limiting the consumption of poorly absorbed fermentable carbohydrates known as FODMAP. These FODMAP are believed to be the primary triggers for food-related gastrointestinal symptoms in functional gastrointestinal disorders. However, there is currently insufficient direct evidence investigating the role of low FODMAP diets in cancer patients undergoing treatment...
March 2024: Curēus
https://read.qxmd.com/read/38646205/post-traumatic-stress-disorder-the-influence-of-the-environmental-context-and-analysis-of-oxidative-stress-and-inflammatory-and-glycemic-markers-in-women-living-in-kurdistan-regional-government-iraq
#3
JOURNAL ARTICLE
Husni M Hasan, Suad Y Alkass, Daniele S Persike
Background Internally displaced persons (IDP) camps are still home to a large number of female survivors of the Yazidi genocide carried out in Iraq in 2014 by the Islamic organization known as the Islamic State of Iraq and Syria (ISIS). Many of these women suffer from a persistent form of post-traumatic stress disorder (PTSD), which can last for many years. On the other hand, little is known about the intricate etiology of PTSD. Objectives In this observational cross-sectional study, the biochemical parameters, including inflammatory and oxidative stress (OXS) markers, were evaluated in two groups: the case group (women with newly diagnosed PTSD) and the control group (apparently healthy women)...
March 2024: Curēus
https://read.qxmd.com/read/38645416/implicit-motor-learning-in-children-with-autism-spectrum-disorder-current-approaches-and-future-directions
#4
REVIEW
Weiqi Zheng
Motor dysfunction is increasingly being viewed as a core characteristic of autism spectrum disorder (ASD) in children. In particular, children with ASD have difficulty in learning new motor skills and there is a need to develop effective methods to improve this. Previous research has found that children with ASD may retain the ability to implicitly learn motor skills in comparison to their explicit learning of motor skills, which is typically impaired. This literature mini review focuses on summarizing the study of implicit learning in the acquisition of motor skills in children with ASD...
2024: Frontiers in Psychiatry
https://read.qxmd.com/read/38645204/lateral-orbitofrontal-cortex-encodes-presence-of-risk-and-subjective-risk-preference-during-decision-making
#5
Daniel B K Gabriel, Felix Havugimana, Anna E Liley, Ivan Aguilar, Mohammed Yeasin, Nicholas W Simon
Adaptive decision-making requires consideration of objective risks and rewards associated with each option, as well as subjective preference for risky/safe alternatives. Inaccurate risk/reward estimations can engender excessive risk-taking, a central trait in many psychiatric disorders. The lateral orbitofrontal cortex (lOFC) has been linked to many disorders associated with excessively risky behavior and is ideally situated to mediate risky decision-making. Here, we used single-unit electrophysiology to measure neuronal activity from lOFC of freely moving rats performing in a punishment-based risky decision-making task...
April 9, 2024: bioRxiv
https://read.qxmd.com/read/38645129/adolescent-environmental-enrichment-induces-social-resilience-and-alters-neural-gene-expression-in-a-selectively-bred-rodent-model-with-anxious-phenotype
#6
Angela M O'Connor, Megan H Hagenauer, Liam Cannon Thew Forrester, Pamela M Maras, Keiko Arakawa, Elaine K Hebda-Bauer, Huzefa Khalil, Evelyn R Richardson, Farizah I Rob, Yusra Sannah, Stanley J Watson, Huda Akil
Stress is a major influence on mental health status; the ways that individuals respond to or copes with stressors determine whether they are negatively affected in the future. Stress responses are established by an interplay between genetics, environment, and life experiences. Psychosocial stress is particularly impactful during adolescence, a critical period for the development of mood disorders. In this study we compared two established, selectively-bred Sprague Dawley rat lines, the "internalizing" bred Low Responder (bLR) line versus the "externalizing" bred High Responder (bHR) line, to investigate how genetic temperament and adolescent environment impact future responses to social interactions and psychosocial stress, and how these determinants of stress response interact...
April 11, 2024: bioRxiv
https://read.qxmd.com/read/38645045/a-multivariate-genome-wide-association-study-reveals-neural-correlates-and-common-biological-mechanisms-of-psychopathology-spectra
#7
Christal N Davis, Yousef Khan, Sylvanus Toikumo, Zeal Jinwala, Dorret I Boomsma, Daniel F Levey, Joel Gelernter, Rachel L Kember, Henry R Kranzler
There is considerable comorbidity across externalizing and internalizing behavior dimensions of psychopathology. We applied genomic structural equation modeling (gSEM) to genome-wide association study (GWAS) summary statistics to evaluate the factor structure of externalizing and internalizing psychopathology across 16 traits and disorders among European-ancestry individuals (n's = 16,400 to 1,074,629). We conducted GWAS on factors derived from well-fitting models. Downstream analyses served to identify biological mechanisms, explore drug repurposing targets, estimate genetic overlap between the externalizing and internalizing spectra, and evaluate causal effects of psychopathology liability on physical health...
April 9, 2024: medRxiv
https://read.qxmd.com/read/38644861/response-of-heterologously-expressed-pressure-sensor-actuator-modulator-macromolecule-to-external-mechanical-stress
#8
JOURNAL ARTICLE
Subrata Batabyal, Chinenye Idigo, Darryl Narcisse, Adnan Dibas, Samarendra Mohanty
Cells from different organs in the body experience a range of mechanical and osmotic pressures that change in various diseases, including neurological, cardiovascular, ophthalmological, and renal diseases. Here, we demonstrate the use of an engineered Sensor-Actuator-Modulator (SAM) of microbial origin derived from a mechanosensitive channel of large conductance (MscL) for sensing external mechanical stress and modulating activities of mammalian cells. SAM is reliably expressed in the mammalian cell membrane and acts as a tension-activated pressure release valve...
April 30, 2024: Heliyon
https://read.qxmd.com/read/38644711/alpha-lipoic-acid-an-antioxidant-with-anti-aging-properties-for-disease-therapy
#9
JOURNAL ARTICLE
Mariia Shanaida, Roman Lysiuk, Olha Mykhailenko, Nataliia Hudz, Abdullateef Abdulsalam, Tetiana Gontova, Oleksandra Oleshchuk, Yana Ivankiv, Volodymyr Shanaida, Dmytro Lytkin, Geir Bjørklund
The anti-aging effects of alpha-lipoic acid (αLA), a natural antioxidant synthesized in human tissues, have attracted a growing interest in recent years. αLA is a short- -chain sulfur-containing fatty acid occurring in the mitochondria of all kinds of eukaryotic cells. Both the oxidized disulfide of αLA and its reduced form (dihydrolipoic acid, DHLA) exhibit prominent antioxidant function. The amount of αLA inside the human body gradually decreases with age resulting in various health disorders...
April 19, 2024: Current Medicinal Chemistry
https://read.qxmd.com/read/38643701/predicting-nutrition-and-environmental-factors-associated-with-female-reproductive-disorders-using-a-knowledge-graph-and-random-forests
#10
JOURNAL ARTICLE
Lauren E Chan, Elena Casiraghi, Justin Reese, Quaker E Harmon, Kevin Schaper, Harshad Hegde, Giorgio Valentini, Charles Schmitt, Alison Motsinger-Reif, Janet E Hall, Christopher J Mungall, Peter N Robinson, Melissa A Haendel
OBJECTIVE: Female reproductive disorders (FRDs) are common health conditions that may present with significant symptoms. Diet and environment are potential areas for FRD interventions. We utilized a knowledge graph (KG) method to predict factors associated with common FRDs (for example, endometriosis, ovarian cyst, and uterine fibroids). MATERIALS AND METHODS: We harmonized survey data from the Personalized Environment and Genes Study (PEGS) on internal and external environmental exposures and health conditions with biomedical ontology content...
April 17, 2024: International Journal of Medical Informatics
https://read.qxmd.com/read/38642889/a-trial-of-implementation-facilitation-to-increase-timely-admission-to-methadone-treatment
#11
JOURNAL ARTICLE
J Gryczynski, S G Mitchell, M Whitter, D Fuller, M M Mitchell, E J Edelman, R P Schwartz
BACKGROUND: During the ongoing opioid epidemic, some Opioid Treatment Programs (OTPs) are unable to admit program applicants in a timely fashion. Interim methadone (IM) treatment (without routine counseling) is an effective approach to overcome this challenge when counseling capacity is inadequate to permit admissions within 14 days of request. It requires both federal and state approval and has been rarely utilized since its incorporation into the federal OTP regulations in 1993...
April 18, 2024: J Subst Use Addict Treat
https://read.qxmd.com/read/38642693/a-review-of-dna-nanoparticles-encapsulated-drug-gene-protein-for-advanced-controlled-drug-release-current-status-and-future-perspective-over-emerging-therapy-approaches
#12
REVIEW
Ghazal Kadkhodaie Kashani, Seyed Morteza Naghib, Sina Soleymani, M R Mozafari
In the last ten years, the field of nanomedicine has experienced significant progress in creating novel drug delivery systems (DDSs). An effective strategy involves employing DNA nanoparticles (NPs) as carriers to encapsulate drugs, genes, or proteins, facilitating regulated drug release. This abstract examines the utilization of DNA NPs and their potential applications in strategies for controlled drug release. Researchers have utilized the distinctive characteristics of DNA molecules, including their ability to self-assemble and their compatibility with living organisms, to create NPs specifically for the purpose of delivering drugs...
April 18, 2024: International Journal of Biological Macromolecules
https://read.qxmd.com/read/38642453/anxiety-and-depressive-personality-disorders-in-the-modern-world
#13
JOURNAL ARTICLE
Liana Spytska
The study's significance lies in the multitude of challenges facing individuals today, such as the COVID-19 pandemic, military conflicts like the war in Ukraine, and the escalating rates of cancer morbidity and mortality. These factors contribute to the onset of anxiety and depressive disorders, disrupting various aspects of individuals' mental functioning and social interactions. Addressing these disorders effectively necessitates a comprehensive approach, combining pharmacological interventions with psychotherapeutic strategies under the guidance of specialized professionals...
April 19, 2024: Acta Psychologica
https://read.qxmd.com/read/38642027/exploring-the-association-of-indigeneity-social-adversity-status-and-externalizing-symptoms-in-children-and-adolescents
#14
JOURNAL ARTICLE
Alasdair Vance, Janet McGaw, Angel O'Meara, Joseph P Gone, Sandra Eades
OBJECTIVE: The relationship between Indigeneity, social adversity status and externalizing symptoms is complex and unclear. This study investigates how Indigeneity, social adversity status and externalizing symptoms are related in young people. METHODS: A total of 132 Indigenous and 247 non-Indigenous young people aged 6-16 years were recruited from a hospital mental health outpatient service. Normality plots with statistics for social adversity status and parent-reported externalizing symptoms were completed for the two groups, matched for age, gender, mental disorder symptom severity, symptom-linked distress and impairment...
April 20, 2024: Australian and New Zealand Journal of Psychiatry
https://read.qxmd.com/read/38642010/looking-for-the-good-in-times-of-adversity-examining-the-interplay-of-temperament-and-social-schemas-in-shaping-resilience-in-youth
#15
JOURNAL ARTICLE
Frankie Joosten, Jindra Bakker, Maud Daemen, Therese van Amelsvoort, Ulrich Reininghaus
AIM: Resilience is a broad and dynamic concept that can be seen as being constituted by the combination of internal factors, for example, temperament profiles, and external factors, for example, social support. This paper aimed to identify temperament profiles in help-seeking youth exposed to adverse childhood experiences, and to investigate whether temperament (putative internal protective factor) interacts with social schemas (as proxy for the putative external protective factor social support) such that their combination is associated with (a) reduced mental health problems and (b) attenuated decrease in positive affect following daily life stressors...
April 20, 2024: Early Intervention in Psychiatry
https://read.qxmd.com/read/38640979/development-and-validation-of-a-nomogram-prediction-model-for-adhd-in-children-based-on-individual-family-and-social-factors
#16
JOURNAL ARTICLE
Ting Gao, Lan Yang, Jiayu Zhou, Yuan Zhang, Laishuan Wang, Yan Wang, Tianwei Wang
OBJECTIVES: A reliable, user-friendly, and multidimensional prediction tool can help to identify children at high risk for ADHD and facilitate early recognition and family management of ADHD. We aimed to develop and validate a risk nomogram for ADHD in children aged 3-17 years in the United States based on clinical manifestations and complex environments. METHODS: A total of 141,356 cases were collected for the prediction model. Another 54,444 cases from a new data set were utilized for performing independent external validation...
April 17, 2024: Journal of Affective Disorders
https://read.qxmd.com/read/38639373/predicting-outcomes-following-lower-extremity-endovascular-revascularization-using-machine-learning
#17
JOURNAL ARTICLE
Ben Li, Badr Aljabri, Raj Verma, Derek Beaton, Mohamad A Hussain, Douglas S Lee, Duminda N Wijeysundera, Charles de Mestral, Muhammad Mamdani, Mohammed Al-Omran
BACKGROUND: Lower extremity endovascular revascularization for peripheral artery disease carries nonnegligible perioperative risks; however, outcome prediction tools remain limited. Using machine learning, we developed automated algorithms that predict 30-day outcomes following lower extremity endovascular revascularization. METHODS AND RESULTS: The National Surgical Quality Improvement Program targeted vascular database was used to identify patients who underwent lower extremity endovascular revascularization (angioplasty, stent, or atherectomy) for peripheral artery disease between 2011 and 2021...
April 19, 2024: Journal of the American Heart Association
https://read.qxmd.com/read/38639338/how-much-or-how-often-examining-the-screening-properties-of-the-dsm-cross-cutting-symptom-measure-in-a-youth-population-based-sample
#18
JOURNAL ARTICLE
João Pedro Gonçalves Pacheco, Christian Kieling, Pedro H Manfro, Ana M B Menezes, Helen Gonçalves, Isabel O Oliveira, Fernando C Wehrmeister, Luis Augusto Rohde, Maurício Scopel Hoffmann
BACKGROUND: The DSM Level 1 Cross-Cutting Symptom Measure (DSM-XC) allows for assessing multiple psychopathological domains. However, its capability to screen for mental disorders in a population-based sample and the impact of adverbial framings (intensity and frequency) on its performance are unknown. METHODS: The study was based on cross-sectional data from the 1993 Pelotas birth cohort in Brazil. Participants with completed DSM-XC and structured diagnostic interviews ( n = 3578, aged 22, 53...
April 19, 2024: Psychological Medicine
https://read.qxmd.com/read/38638770/efficacy-of-powerball-versus-mulligan-mobilization-with-movement-on-pain-and-function-in-patients-with-lateral-epicondylitis-a-randomized-clinical-trial
#19
JOURNAL ARTICLE
Shivani R Uttamchandani, Pratik Phansopkar
Background Lateral epicondylitis (LE), sometimes referred to as tennis elbow or lateral elbow tendinopathy (LET), is one of the most common repetitive stress disorders in the elbow joint. Often, this involves the attachment of the extensor carpi radialis brevis muscle. This study's primary focus is on treating people with LE, a condition that causes repetitive movements of the upper extremities. There is currently no research on how PowerBall gadget workouts affect the function and pain of individuals with lateral epicondylitis...
March 2024: Curēus
https://read.qxmd.com/read/38638510/predictors-of-non-suicidal-self-injury-in-adolescents-with-depressive-disorder-the-role-of-alexithymia-childhood-trauma-and-body-investment
#20
JOURNAL ARTICLE
Panpan Cao, Ran Peng, Qiuyu Yuan, Ruochen Zhou, Mengting Ye, Xiaoqin Zhou
PURPOSE: This study analyzes the relationship of alexithymia, childhood trauma, and body investment to non-suicidal self-injury (NSSI) behaviors in adolescents with depressive disorder and whether they have predictive and diagnostic value for non-suicidal self-injury (NSSI) behaviors in adolescents with depressive disorder. PATIENTS AND METHODS: A total of 225 patients with a diagnosis of adolescent depressive disorder were included in the study and were divided into two groups according to the DSM-5 criteria: 98 cases without NSSI and 127 cases with NSSI...
2024: Frontiers in Psychology
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