keyword
https://read.qxmd.com/read/38490765/germline-predisposition-to-myeloid-neoplasms-characteristics-and-management-of-high-versus-variable-penetrance-disorders
#1
REVIEW
Amy M Trottier, Simone Feurstein, Lucy A Godley
Myeloid neoplasms with germline predisposition have been recognized increasingly over the past decade with numerous newly described disorders. Penetrance, age of onset, phenotypic heterogeneity, and somatic driver events differ widely among these conditions and sometimes even within family members with the same variant, making risk assessment and counseling of these individuals inherently difficult. In this review, we will shed light on high malignant penetrance (e.g., CEBPA, GATA2, SAMD9/SAMD9L, and TP53) versus variable malignant penetrance syndromes (e...
March 2024: Best Practice & Research. Clinical Haematology
https://read.qxmd.com/read/38490690/psychological-burden-associated-with-incident-persistent-symptoms-and-their-evolution-during-the-covid-19-pandemic-a-prospective-population-based-study
#2
JOURNAL ARTICLE
Baptiste Pignon, Joane Matta, Emmanuel Wiernik, Anne Toussaint, Bernd Loewe, Olivier Robineau, Fabrice Carrat, Gianluca Severi, Mathilde Touvier, Clement Gouraud, Charles Ouazana Vedrines, Victor Pitron, Brigitte Ranque, Nicolas Hoertel, Sofiane Kab, Marcel Goldberg, Marie Zins, Cédric Lemogne
BACKGROUND: Identifying factors that predict the course of persistent symptoms that occurred during the COVID-19 pandemic is a public health issue. Modifiable factors could be targeted in therapeutic interventions. OBJECTIVE: This prospective study based on the population-based CONSTANCES cohort examined whether the psychological burden associated with incident persistent symptoms (ie, that first occurred from March 2020) would predict having ≥1 persistent symptom 6-10 months later...
March 15, 2024: BMJ Ment Health
https://read.qxmd.com/read/38490589/health-related-quality-of-life-in-the-year-following-road-trauma-longitudinal-analysis-using-piecewise-latent-curve-modeling
#3
JOURNAL ARTICLE
Somayeh Momenyan, Herbert Chan, Shannon Erdelyi, Lulu X Pei, Leona K Shum, Lina Jae, John Taylor, John Staples, Jeffrey R Brubacher
BACKGROUND: Road trauma (RT) survivors have reduced health-related quality of life (HRQoL). We identified phases and predictors of HRQoL change following RT injury. METHODS: In a prospective cohort study of 1480 Canadian RT survivors aged 16 to 103 years (July 2018 - March 2020), physical component (PCS) and mental component (MCS) summary scores from the SF-12v2 were measured pre-injury and 2, 4, 6, and 12 months post-injury and their trajectories were analyzed with piecewise latent growth curve modeling...
March 13, 2024: Journal of Affective Disorders
https://read.qxmd.com/read/38489028/-the-german-center-for-mental-health-innovative-translational-research-to-promote-prevention-targeted-intervention-and-resilience
#4
REVIEW
Melissa G Halil, Irina Baskow, Malte F Zimdahl, Silke Lipinski, Rüdiger Hannig, Peter Falkai, Andreas J Fallgatter, Silvia Schneider, Martin Walter, Andreas Meyer-Lindenberg, Andreas Heinz
BACKGROUND: Due to the high disease burden, the early onset and often long-term trajectories mental disorders are among the most widespread diseases with growing significance. The German Center for Mental Health (DZPG) was established to enhance research conditions and expedite the translation of clinically relevant findings into practice. OBJECTIVE: The aim of the DZPG is to optimize mental healthcare in Germany, influence modifiable social causes and to develop best practice models of care for vulnerable groups...
March 15, 2024: Der Nervenarzt
https://read.qxmd.com/read/38486502/analysis-of-risk-factors-and-interactions-for-pain-in-temporomandibular-disorder-a-cross-sectional-study
#5
JOURNAL ARTICLE
Yang Yang, Li-Li Xu, Sha-Sha Liu, Shen-Ji Lu, Li-Kun Liu, Hong Zeng, Zhong-Yi Fang
BACKGROUND: Risk factors for temporomandibular disorder (TMD) pain remain unclear. OBJECTIVES: This study aimed to identify risk factors for TMD pain using a biopsychosocial model and to investigate interactions between potential risk factors-oral behaviours (OBs), psychological factors and sleep quality-and their direct and indirect effects on TMD pain. METHODS: This was a cross-sectional study of 488 patients with TMDs (422 women; 30.8 ± 9...
March 15, 2024: Journal of Oral Rehabilitation
https://read.qxmd.com/read/38486089/solubility-of-%C3%AE-synuclein-species-in-the-l62-mouse-model-of-synucleinopathy
#6
JOURNAL ARTICLE
Karima Schwab, Mandy Magbagbeolu, Franz Theuring, Charles R Harrington, Claude M Wischik, Gernot Riedel
The accumulation of α-synuclein (α-Syn) into Lewy bodies is a hallmark of synucleinopathies, a group of neurological disorders that include Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Small oligomers as well as larger fibrils of α-Syn have been suggested to induce cell toxicity leading to a degenerative loss of neurones. A richer understanding of α-Syn aggregation in disease, however, requires the identification of the different α-Syn species and the characterisation of their biochemical properties...
March 14, 2024: Scientific Reports
https://read.qxmd.com/read/38483372/anxiety-depression-and-posttraumatic-stress-disorder-in-patients-with-induced-laryngeal-obstruction
#7
JOURNAL ARTICLE
Robert Brinton Fujiki, Amanda Edith Fujiki, Susan L Thibeault
IMPORTANCE: Patients with induced laryngeal obstruction (ILO) present with a variety of behavioral health profiles. Identifying these profiles is crucial in that behavioral health conditions may affect treatment duration and outcomes. OBJECTIVE: To characterize the prevalence of anxiety, depression, posttraumatic stress disorder (PTSD), and physical somatic symptoms in adult and pediatric patients with ILO and determine the factors associated with anxiety, depression, PTSD, and physical somatic symptoms in patients with ILO? DESIGN, SETTING, AND PARTICIPANTS: This cross-sectional study included a nonprobability sample of 83 adult and 81 pediatric patients diagnosed with ILO at outpatient adult and pediatric otolaryngology clinics between 2021 and 2023...
March 14, 2024: JAMA Otolaryngology—Head & Neck Surgery
https://read.qxmd.com/read/38483348/common-single-base-insertions-in-the-vntr-of-the-carboxyl-ester-lipase-cel-gene-are-benign-and-also-likely-to-arise-somatically-in-the-exocrine-pancreas
#8
JOURNAL ARTICLE
Ranveig S Brekke, Anny Gravdal, Khadija El Jellas, Grace E Curry, Jianguo Lin, Steven J Wilhelm, Solrun J Steine, Eric Mas, Stefan Johansson, Mark E Lowe, Bente B Johansson, Xunjun Xiao, Karianne Fjeld, Anders Molven
The CEL gene encodes carboxyl ester lipase, a pancreatic digestive enzyme. CEL is extremely polymorphic due to a variable number tandem repeat (VNTR) located in the last exon. Single-base deletions within this VNTR cause the inherited disorder MODY8, whereas little is known about VNTR single-base insertions in pancreatic disease. We therefore mapped CEL insertion variants (CEL-INS) in 200 Norwegian patients with pancreatic neoplastic disorders. Twenty-eight samples (14.0%) carried CEL-INS alleles. Most common were insertions in repeat 9 (9...
March 14, 2024: Human Molecular Genetics
https://read.qxmd.com/read/38482704/-natural-history-of-mucopolysaccharidosis-type-iii-in-a-series-of-colombian-patients
#9
L Cabarcas, J L Ramón, E Espinosa, G P Guerrero, N Martínez, N Santamaría, I Lince, S Reyes
INTRODUCTION: Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a lysosomal storage disease with progressive neurodegenerative features, predominantly affecting the central nervous system. Diagnosis is based on clinical features, with neurodevelopmental and neuropsychiatric alterations taking precedence, including over phenotype alterations. The disease is confirmed by biochemical analysis to identify the type of glycosaminoglycans present, enzyme assay and molecular genetic studies...
March 16, 2024: Revista de Neurologia
https://read.qxmd.com/read/38481748/the-differential-diagnosis-of-medical-and-psychogenic-disease-in-primary-care
#10
JOURNAL ARTICLE
Kosuke Ishizuka, Kiyoshi Shikino, Yu Li, Daiki Yokokawa, Tomoko Tsukamoto, Yasutaka Yanagita, Jumpei Kojima, Shiho Yamashita, Kazutaka Noda, Takanori Uehara, Masatomi Ikusaka
Diagnosis and management of psychogenic diseases such as conversion disorder, somatic symptom disorder (SSD), illness anxiety disorder, falsehood disorder, and psychotic disorder require an elaborate biopsychosocial approach and are often challenging. Herein, we propose the following points to differentiate medical diseases from these psychogenic diseases: correspondence between symptoms and objective findings or activities of daily living (ADL) impairment; placebo effect; clear provocative or palliative factors; progressive time course; paroxysmal or intermittent symptoms; unfamiliar but not strange expressions; symptoms worsen during sleep or rest...
March 2024: Journal of General and Family Medicine
https://read.qxmd.com/read/38481289/the-clinical-effectiveness-of-a-self-management-intervention-for-patients-with-persistent-depressive-disorder-and-their-partners-caregivers-results-from-a-multicenter-pragmatic-randomized-controlled-trial
#11
JOURNAL ARTICLE
Ericka C Solis, Ingrid V E Carlier, Noëlle G A Kamminga, Erik J Giltay, Albert M van Hemert
BACKGROUND: Persistent depressive disorder (PDD) is prevalent and debilitating. For patients with PDD, psychiatric rehabilitation using self-management interventions is advised as the next therapeutic step after multiple unsuccessful treatment attempts. The "Patient and Partner Education Program for All Chronic Diseases" (PPEP4All) is a brief, structured self-management program that focuses on functional recovery for patients and their partners/caregivers. In chronic somatic disorder populations, PPEP4All has already been shown to be clinically effective...
March 13, 2024: Trials
https://read.qxmd.com/read/38481146/protein-kinase-a-in-neurological-disorders
#12
REVIEW
Alexander G P Glebov-McCloud, Walter S Saide, Marie E Gaine, Stefan Strack
Cyclic adenosine 3', 5' monophosphate (cAMP)-dependent Protein Kinase A (PKA) is a multi-functional serine/threonine kinase that regulates a wide variety of physiological processes including gene transcription, metabolism, and synaptic plasticity. Genomic sequencing studies have identified both germline and somatic variants of the catalytic and regulatory subunits of PKA in patients with metabolic and neurodevelopmental disorders. In this review we discuss the classical cAMP/PKA signaling pathway and the disease phenotypes that result from PKA variants...
March 13, 2024: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/38480071/comorbidities-between-temporomandibular-disorders-and-somatization-in-young-adults-exploring-links-with-personality-emotional-and-sleep-disturbances
#13
JOURNAL ARTICLE
Adrian Ujin Yap, Ni Luh Dewi, Carolina Marpaung
OBJECTIVE: The comorbidities between temporomandibular disorders (TMDs) and somatization and their associations with personality traits, emotional disorders, and sleep disturbances were investigated. STUDY DESIGN: Adults aged 18 to 24 years completed an electronic survey encompassing TMD symptoms (5Ts), Patient Health Questionnaire-15, Big Five Personality Inventory-10, Depression Anxiety Stress Scales-21, and Pittsburgh Sleep Quality Index. Data were assessed using non-parametric tests/correlation analysis and logistic regression analysis (α = 0...
February 6, 2024: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://read.qxmd.com/read/38479347/abnormal-amplitude-of-low-frequency-fluctuations-associated-with-sleep-efficiency-in-major-depressive-disorder
#14
JOURNAL ARTICLE
Yifei Li, Wenming Zhao, Xinyu Li, Lianzi Guan, Yu Zhang, Jiakuai Yu, Jiajia Zhu, Dao-Min Zhu
BACKGROUND: Sleep disturbance is one of the most frequent somatic symptoms in major depressive disorder (MDD), but the neural mechanisms behind it are not well understood. Sleep efficiency (SE) is a good indicator of early awakening and difficulty falling asleep in MDD patients. Our study aimed to investigate the relationship between sleep efficiency and brain function in MDD patients. METHODS: We recruited 131 MDD patients from the Fourth People's Hospital in Hefei, and 71 well-matched healthy controls who were enrolled from the community...
February 21, 2024: Journal of Psychiatric Research
https://read.qxmd.com/read/38476852/the-psychometric-properties-of-the-turkish-version-of-the-pre-sleep-arousal-scale
#15
JOURNAL ARTICLE
Kutlu Kağan Türkarslan, Deniz Canel Çınarbaş, Perry M Nicassio
PURPOSE: The aim of the present study was to examine the psychometric properties of the Turkish version of the Pre-sleep Arousal Scale (PSAS), which measures pre-sleep arousal, a significant predictor of insomnia symptoms. METHODS: 651 participants were recruited via social media and the Internet. Confirmatory factor analysis was conducted in the total sample (65.28% females; M age1  = 28.09 ± 14.00). Convergent, divergent, incremental, and known-groups validity and internal consistency coefficients were assessed in a subsample of 556 participants (62...
January 2024: Sleep and Biological Rhythms
https://read.qxmd.com/read/38474238/a-zebrafish-based-platform-for-high-throughput-epilepsy-modeling-and-drug-screening-in-f0
#16
JOURNAL ARTICLE
Sílvia Locubiche, Víctor Ordóñez, Elena Abad, Michele Scotto di Mase, Vincenzo Di Donato, Flavia De Santis
The zebrafish model has emerged as a reference tool for phenotypic drug screening. An increasing number of molecules have been brought from bench to bedside thanks to zebrafish-based assays over the last decade. The high homology between the zebrafish and the human genomes facilitates the generation of zebrafish lines carrying loss-of-function mutations in disease-relevant genes; nonetheless, even using this alternative model, the establishment of isogenic mutant lines requires a long generation time and an elevated number of animals...
March 4, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38470686/etiologic-factors-of-temporomandibular-disorders-a-systematic-review-of-literature-containing-diagnostic-criteria-for-temporomandibular-disorders-dc-tmd-and-research-diagnostic-criteria-for-temporomandibular-disorders-rdc-tmd-from-2018-to-2022
#17
REVIEW
Joanna Warzocha, Joanna Gadomska-Krasny, Joanna Mrowiec
This study aims to conduct a systematic analysis of literature published between 1 January 2018 and 1 September 2022, exploring factors influencing the progression or development of temporomandibular disorders (TMD), diagnosed using the Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) or Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD). Three electronic databases were reviewed to identify papers that examined TMD factors using DC/TMD or RDC/TMD. Inclusion criteria encompassed original research published in English between 1 January 2018 and 1 October 2022, online, and complete DC/TMD or RDC/TMD studies on human participants aged 18 or older...
February 29, 2024: Healthcare (Basel, Switzerland)
https://read.qxmd.com/read/38469984/vexas-syndrome-a-review-of-cutaneous-findings-and-treatments-in-an-emerging-autoinflammatory-disease
#18
REVIEW
Anis J Saad, Mihir K Patil, Nicolas Cruz, Chloe S Lam, Connor O'Brien, Vinod E Nambudiri
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic mutation) syndrome is a novel autoinflammatory, late-onset, disorder first identified in 2020. It is caused by mutations in the UBA1 gene. The most prominent clinical features reported by VEXAS patients are cutaneous and haematological, having characteristic skin features reported as the initial presenting findings of the disease. VEXAS is a severe and treatment-resistant condition with high morbidity and mortality rates. Here, we examine all case reports and case series of VEXAS syndrome through March 2023 focusing on those presenting cutaneous manifestations...
March 2024: Experimental Dermatology
https://read.qxmd.com/read/38468535/the-role-of-sars-cov-2-spike-protein-in-long-term-damage-of-tissues-and-organs-the-underestimated-role-of-retrotransposons-and-stem-cells-a-working-hypothesis
#19
JOURNAL ARTICLE
Mario G Balzanelli, Reza Rastanesh, Pietro Distratis, Rita Lazzaro, Francesco Inchingolo, Raffaele Del Prete, Van H Pham, Sergey K Aityan, Toai Tran Cong, Kieu C D Nguyen, Ciro Gargiulo Isacco
Coronavirus disease-2019 (COVID-19) is a respiratory disease in which Spike protein from SARS-CoV-2 plays a key role in transferring virus genomic code into target cells. Spike protein, which is found on the surface of the SARS-CoV-2 virus, latches onto angiotensin-converting enzyme 2 receptors (ACE2r) on target cells. The RNA genome of coronaviruses, with an average length of 29 kb, is the longest among all RNA viruses and comprises six to ten open reading frames (ORFs) responsible for encoding replicase and structural proteins for the virus...
March 11, 2024: Endocrine, Metabolic & Immune Disorders Drug Targets
https://read.qxmd.com/read/38467784/sequence-composition-changes-in-short-tandem-repeats-heterogeneity-detection-mechanisms-and-clinical-implications
#20
REVIEW
Indhu-Shree Rajan-Babu, Egor Dolzhenko, Michael A Eberle, Jan M Friedman
Short tandem repeats (STRs) are a class of repetitive elements, composed of tandem arrays of 1-6 base pair sequence motifs, that comprise a substantial fraction of the human genome. STR expansions can cause a wide range of neurological and neuromuscular conditions, known as repeat expansion disorders, whose age of onset, severity, penetrance and/or clinical phenotype are influenced by the length of the repeats and their sequence composition. The presence of non-canonical motifs, depending on the type, frequency and position within the repeat tract, can alter clinical outcomes by modifying somatic and intergenerational repeat stability, gene expression and mutant transcript-mediated and/or protein-mediated toxicities...
March 11, 2024: Nature Reviews. Genetics
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