keyword
https://read.qxmd.com/read/38469984/vexas-syndrome-a-review-of-cutaneous-findings-and-treatments-in-an-emerging-autoinflammatory-disease
#21
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
#22
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
#23
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
https://read.qxmd.com/read/38467733/origin-and-evolution-of-pentanucleotide-repeat-expansions-at-the-familial-cortical-myoclonic-tremor-with-epilepsy-type1-samd12-locus
#24
JOURNAL ARTICLE
Xinhui Chen, Fan Zhang, Yihua Shi, Haotian Wang, Miao Chen, Dehao Yang, Lebo Wang, Peng Liu, Fei Xie, Jiawen Chen, Aisi Fu, Ben Hu, Bo Wang, Zhiyuan Ouyang, Sheng Wu, Zhiru Lin, Zhidong Cen, Wei Luo
Familial cortical myoclonic tremor with epilepsy type 1 (FCMTE1) is caused by (TTTTA)exp(TTTCA)exp repeat expansions in SAMD12, while pure (TTTTA)exp is polymorphic. Our investigation focused on the origin and evolution of pure (TTTTA)exp and (TTTTA)exp(TTTCA)exp at this locus. We observed a founder effect between them. The phylogenetic analysis suggested that the (TTTTA)exp(TTTCA)exp might be generated from pure (TTTTA)exp through infrequent transformation events. Long-read sequencing revealed somatic generation of (TTTTA)exp(TTTCA)exp from pure (TTTTA)exp, likely via long segment (TTTCA) repeats insertion...
March 12, 2024: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/38467313/recurrence-of-cchs-associated-phox2b-poly-alanine-expansion-variant-due-to-paternal-mosaicism
#25
JOURNAL ARTICLE
Huling Jiang, Zepeng Ping, Suping Li, Jianjun Zhu
BACKGROUND: Paired-like Homeobox 2B (PHOX2B) is considered the causative gene of Congenital Central Hypoventilation Syndrome (CCHS), a dominant genetic disorder characterized by impaired central respiratory control and subsequent hypoventilation during sleep. METHODS: Herein, we present a family with recurrent severe CCHS. The potential causative genetic variant was confirmed through Whole-Exome Sequencing (WES), Sanger sequencing, and droplet digital PCR (ddPCR)...
March 11, 2024: Gene
https://read.qxmd.com/read/38465805/-functional-transcranial-dopplerography-is-a-diagnostic-tool-for-cognitive-impairment-syndrome
#26
JOURNAL ARTICLE
A V Polyakova, M S Pushkin, A K Kutkova, I A Voznyuk
Functional transcranial dopplerography (FTCD) is a non-invasive ultrasound examination that allows recording the dynamics of cerebral blood flow parameters under conditions of factors stimulated the activity of the structures of the central nervous system. Judgments about the sensitivity and specificity of FTCD are based on the close connection between changes in the activity of the nervous (somatic) system and the response of regional cerebral blood flow (CBF). The technique is a portable and accessible diagnostic method used in assessing the possibility of expanding functional activity during the recovery period after a stroke...
2024: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://read.qxmd.com/read/38465501/a-narrative-review-of-risk-factors-and-predictors-for-poor-outcome-and-prolonged-recovery-after-a-mild-traumatic-brain-injury
#27
REVIEW
Ioannis Mavroudis, Ioana-Miruna Balmus, Alin Ciobica, Mihai Hogas
Mild traumatic brain injuries (mTBI) are often caused by a blow to the head or a sudden jolt resulting in a wide range of physical, cognitive, and emotional temporary symptoms. Mild TBI diagnosis can be challenging and most commonly followed by post-concussion syndrome (PCS). When the symptoms are present for more than 3 months, prolonged post-concussive syndrome (PPCS) can be suspected. This review aims to identify and summarize the current status of the knowledge regarding the risk factors and predictors of the recovery from PCS and PPCS...
March 13, 2024: International Journal of Neuroscience
https://read.qxmd.com/read/38464764/cognitive-dissonance-and-mindset-perturbations-during-crisis-eco-socio-psycho-somatic-perspectives
#28
REVIEW
Felix Tretter, Henriette Löffler-Stastka
Mandatory and restrictive health regulations during the corona pandemic caused psychic disorders in many people, which even led to clinically relevant mental disorders. At the same time, there was gradually a polarization of opinions among the population. In order to improve future pandemic management, an integrative understanding of these psychosocial processes therefore seems useful. Here we start theoretically with the mental effects of inconsistencies of the information environment by referring to concepts such as the theory of cognitive dissonance...
February 19, 2024: World Journal of Psychiatry
https://read.qxmd.com/read/38464671/long-term-efficacy-and-safety-of-cardiac-genome-editing-for-catecholaminergic-polymorphic-ventricular-tachycardia
#29
JOURNAL ARTICLE
Oliver M Moore, Yuriana Aguilar-Sanchez, Satadru K Lahiri, Mohit M Hulsurkar, J Alberto Navarro-Garcia, Tarah A Word, Joshua A Keefe, Dean Barazi, Elda M Munivez, Charles T Moore, Vaidya Parthasarathy, Jaysón Davidson, William R Lagor, So Hyun Park, Gang Bao, Christina Y Miyake, Xander H T Wehrens
INTRODUCTION: Heterozygous autosomal-dominant single nucleotide variants in RYR2 account for 60% of cases of catecholaminergic polymorphic ventricular tachycardia (CPVT), an inherited arrhythmia disorder associated with high mortality rates. CRISPR/Cas9-mediated genome editing is a promising therapeutic approach that can permanently cure the disease by removing the mutant RYR2 allele. However, the safety and long-term efficacy of this strategy have not been established in a relevant disease model...
January 2024: The journal of cardiovascular aging
https://read.qxmd.com/read/38461355/ly2444296-a-%C3%AE%C2%BA-opioid-receptor-antagonist-selectively-reduces-alcohol-drinking-in-male-and-female-wistar-rats-with-a-history-of-alcohol-dependence
#30
JOURNAL ARTICLE
Francisco J Flores-Ramirez, Jessica M Illenberger, Glenn Pascasio, Lars Terenius, Rémi Martin-Fardon
Alcohol use disorder (AUD) remains a major public health concern. The dynorphin (DYN)/κ-opioid receptor (KOP) system is involved in actions of alcohol, particularly its withdrawal-associated negative affective states. This study tested the ability of LY2444296, a selective, short-acting, KOP antagonist, to decrease alcohol self-administration in dependent male and female Wistar rats at 8 h abstinence. Animals were trained to orally self-administer 10% alcohol (30 min/day for 21 sessions) and were made dependent via chronic intermittent alcohol vapor exposure for 6 weeks or exposed to air (nondependent)...
March 9, 2024: Scientific Reports
https://read.qxmd.com/read/38459893/are-the-presence-of-asthma-and-the-covid-19-infection-associated-with-behavioral-changes-in-lebanese-adolescents
#31
JOURNAL ARTICLE
Vanessa Azzi, Joya Maria Karam, Wendy D'Andrea, Diana Malaeb, Sami El Khatib, Fouad Sakr, Mariam Dabbous, Souheil Hallit, Michel Soufia
BACKGROUND: Little evidence is available about psychological stressors in Lebanese asthmatic adolescents, where health-risk behaviors are a serious threat to public health. In addition, the COVID-19 epidemic has had a substantial influence on adolescents' mental health globally, especially in Lebanon, where the ongoing economic and political challenges have largely impacted their psychological well-being. This study aimed to explore the association of asthma and the COVID-19 infection with behaviors among Lebanese adolescents...
2024: Allergologia et Immunopathologia
https://read.qxmd.com/read/38457167/evaluation-of-the-relationship-between-the-fear-of-covid-19-and-mental-status-of-female-employees-during-the-covid-19-pandemic
#32
JOURNAL ARTICLE
Süreyya Gümüşsoy, Gülseren Keskin, Ruşen Öztürk
BACKGROUND: The stress due to the COVID-19 pandemic has influenced the physical, mental, and social well-being of humans worldwide. OBJECTIVE: To evaluate the relationship between the fear of COVID-19 and mental state of female employees during the COVID-19 pandemic. METHODS: A cross-sectional study was conducted involving 726 participants. Data was collected using the Personal Information Form, fear of COVID-19 scale, and brief symptom inventory...
March 2, 2024: Work: a Journal of Prevention, Assessment, and Rehabilitation
https://read.qxmd.com/read/38456792/the-finnish-adoptive-family-study-of-schizophrenia-differences-in-somatic-diseases-and-conditions-between-adoptees-with-high-or-low-genetic-risk-for-schizophrenia-spectrum-disorders
#33
JOURNAL ARTICLE
Emma Karjalainen, Mika Niemelä, Helinä Hakko, Karl-Erik Wahlberg, Sami Räsänen
BACKGROUND AND AIMS: There is some evidence that offspring of patients with schizophrenia have higher somatic morbidity, which is thought to be partially due to genetic links between somatic disorders and schizophrenia. This study explored differences in somatic diseases and conditions of adoptees with high genetic risk (HR) or low genetic risk (LR) for schizophrenia spectrum disorders. MATERIAL AND METHODS: The study is part of the Finnish Adoptive Family Study of Schizophrenia...
March 8, 2024: Nordic Journal of Psychiatry
https://read.qxmd.com/read/38455672/effectiveness-of-clinical-pharmacist-interventions-in-optimizing-pharmacotherapy-for-somatic-comorbidities-in-serious-mental-illness-a-clinical-audit
#34
JOURNAL ARTICLE
Diamantis Klimentidis
BACKGROUND: Clinical pharmacists significantly improve pharmacotherapy outcomes. Patients with serious mental illness (SMI) represent a group particularly vulnerable to medication mismanagement, potentially benefiting from pharmaceutical care targeting medication appropriateness. OBJECTIVE: This study aimed to assess the prevalence of inappropriate medication for somatic comorbidities in SMI patients and to evaluate the impact of clinical pharmacist-led interventions...
March 2024: Explor Res Clin Soc Pharm
https://read.qxmd.com/read/38455392/case-report-tuberous-sclerosis-complex-associated-hemihypertrophy-successfully-treated-with-mtor-inhibitor-sirolimus
#35
Konomi Shimoda, Hiroyuki Iwasaki, Yoko Mizuno, Masafumi Seki, Masakazu Mimaki, Motohiro Kato, Aya Shinozaki-Ushiku, Harushi Mori, Seishi Ogawa, Masashi Mizuguchi
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by a mutation in either of the two tumor suppressor genes, TSC1 and TSC2 . Due to dysregulated activity of the mammalian target of rapamycin (mTOR) pathway, hamartomas or benign tumors frequently occur in many organs and are often treated with mTOR inhibitors. Hemihypertrophy is a rare complication of TSC. Although not being a tumor, progressive overgrowth of the affected limb may cause cosmetic and functional problems, for which the efficacy of mTOR inhibitors has not been reported previously...
2024: Frontiers in Pediatrics
https://read.qxmd.com/read/38455259/psychobehavioral-b-criteria-of-somatic-symptom-disorder-are-associated-with-somatic-symptom-reporting-in-a-large-sample-of-psychosomatic-outpatients
#36
JOURNAL ARTICLE
Matthias Hoheisel, Stoyan Popkirov, Rosa Michaelis, Matthias Rose
INTRODUCTION: Somatic symptom disorder (SSD) as introduced by the DSM-5 is characterized by chronic somatic symptoms not fully explained by underlying pathology and accompanied by psychological factors, the diagnostic B-criteria. These cognitive, affective, and behavioral disturbances are related to increased attention to somatic symptoms. However, there is a lack of empirical evidence regarding the association between the B-criteria and high symptom reporting in clinical settings. METHODS: This 12-year retrospective, cross-sectional, observational study examined 6,491 patients from a German psychosomatic outpatient center...
2024: Complex psychiatry
https://read.qxmd.com/read/38454486/analysis-of-caregiver-perspectives-on-patients-with-mucopolysaccharidosis-ii-treated-with-pabinafusp-alfa-results-of-qualitative-interviews-in-japan
#37
JOURNAL ARTICLE
Kimitoshi Nakamura, Norio Sakai, Mohammad Arif Hossain, Julie B Eisengart, Tatsuyoshi Yamamoto, Kazunori Tanizawa, Sairei So, Mathias Schmidt, Yuji Sato
BACKGROUND: Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked metabolic disorder predominantly affecting males. Pabinafusp alfa, an iduronate-2-sulfatase enzyme designed to cross the blood-brain barrier, was approved in Japan in 2021 as the first enzyme replacement therapy targeting both the neuropathic and somatic signs and symptoms of MPS II. This study reports caregivers' experiences of MPS II patients receiving pabinafusp alfa through qualitative interviews...
March 7, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38454373/associations-between-anxiety-depression-and-personal-mastery-in-community-dwelling-older-adults-a-network-based-analysis
#38
JOURNAL ARTICLE
Zekun Bian, Renyan Xu, Bin Shang, Fei Lv, Weiyi Sun, Qian Li, Yijing Gong, Caifeng Luo
BACKGROUND: In China, about 18.70% of the population aged 60 years and older are at risk of low personal mastery as well as anxiety and depression for a variety of reasons. The purpose of this study was to construct a symptom network model of the relationship between anxiety, depression, and personal mastery in community-dwelling older adults and to identify central and bridge symptoms in this network. METHODS: Depression, anxiety, and personal mastery were measured using the Patient Health Questionnaire-9 (PHQ-9), Generalized Anxiety Disorder Scale (GAD-7), and Personal Mastery Scale (PMS), respectively...
March 7, 2024: BMC Psychiatry
https://read.qxmd.com/read/38454357/emotional-coping-factors-and-personality-traits-that-influenced-alcohol-consumption-in-romanian-students-during-the-covid-19-pandemic-a-cross-sectional-study
#39
JOURNAL ARTICLE
Cornelia Rada, Cristina Faludi, Mihaela Lungu
BACKGROUND: During the COVID-19 pandemic, after 3 months from the installation of the state of emergency on the territory of Romania, data were collected from 677 students and master's students, to explore the problematic alcohol consumption (AC). METHODS: The evaluation was done with: Alcohol Use Disorders Identification Test, Depression, Anxiety and Stress Scales, Strategic Coping Approach Scale and The Freiburg Personality Inventory. The statistical methods used were linear regression with bootstrap procedure, Spearman's rank correlation, and the Mann-Whitney U test...
March 7, 2024: BMC Public Health
https://read.qxmd.com/read/38452636/associations-between-somatic-symptoms-and-remission-of-major-depressive-disorder-a-longitudinal-study-in-china
#40
JOURNAL ARTICLE
Yingchen Jiang, Dongjian Zhu, Xinyu Huang, Yanzhi Li, Ya Chen, Yunbin Jiang, Wanxin Wang, Lan Guo, Yan Chen, Yuhua Liao, Yifeng Liu, Huimin Zhang, Gia Han Le, Roger S McIntyre, Beifang Fan, Ciyong Lu
Previous studies have documented negative associations between somatic symptoms and remission of major depressive disorder (MDD). However, the correlations of specific somatic symptoms with remission remain uncertain. We aimed to explore the associations between specific somatic symptoms and remission focusing on sex differences among patients with MDD. We used data from patients with MDD in the Depression Cohort in China. At baseline, total somatic symptoms were evaluated using the 28-item Somatic Symptoms Inventory and were categorized into pain, autonomic, energy, and central nervous system (CNS) symptoms...
February 29, 2024: Journal of Psychiatric Research
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