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https://www.readbyqxmd.com/read/29913182/the-genetic-architecture-of-type-1-diabetes-mellitus
#1
REVIEW
Denis M Nyaga, Mark H Vickers, Craig Jefferies, Jo K Perry, Justin M O'Sullivan
Type 1 diabetes mellitus (T1D) is a complex autoimmune disorder characterised by loss of the insulin-producing pancreatic beta cells in genetically predisposed individuals, ultimately resulting in insulin deficiency and hyperglycaemia. T1D is most common among children and young adults, and the incidence is on the rise across the world. The aetiology of T1D is hypothesized to involve genetic and environmental factors that result in the T-cell mediated destruction of pancreatic beta cells. There is a strong genetic risk to T1D; with genome-wide association studies (GWAS) identifying over 60 susceptibility regions within the human genome which are marked by single nucleotide polymorphisms (SNPs)...
June 15, 2018: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/29913160/rgg-rg-motif-regions-in-rna-binding-and-phase-separation
#2
REVIEW
P Andrew Chong, Robert M Vernon, Julie D Forman-Kay
RGG/RG motifs are RNA binding segments found in many proteins that can partition into membraneless organelles. They occur in the context of low complexity disordered regions and often in multiple copies. Although short RGG/RG-containing regions can sometimes form high affinity interactions with RNA structures, multiple RGG/RG repeats are generally required for high-affinity binding, suggestive of the dynamic, multivalent interactions that are suspected to underlie phase separation in formation of cellular membraneless organelles...
June 15, 2018: Journal of Molecular Biology
https://www.readbyqxmd.com/read/29913130/effect-of-5-httlpr-on-current-source-density-connectivity-and-topological-properties-of-resting-state-eeg-networks
#3
Ekaterina A Proshina, Alexander N Savostyanov, Andrey V Bocharov, Gennady G Knyazev
The S allele of serotonin transporter gene (5-HTTLPR) has been found to increase the risk of depression and other mental health problems, but some evidence suggests that S-allele carriers outperform subjects carrying the long allele in an array of cognitive tasks. Evidence linking this polymorphism with individual variation in electrophysiological properties of resting state brain networks is very limited. This study investigated the effect of 5-HTTLPR polymorphism on EEG current source density, connectivity, and topological properties of resting state networks...
June 15, 2018: Brain Research
https://www.readbyqxmd.com/read/29912848/identify-abnormalities-in-resting-state-brain-function-between-first-episode-drug-naive-major-depressive-disorder-and-remitted-individuals-a-3-year-retrospective-study
#4
Chunxia Yang, Aixia Zhang, Aixiang Jia, Jack X Ma, Ning Sun, Yanfang Wang, Xinrong Li, Zhifen Liu, Sha Liu, Yong Xu, Kerang Zhang
This study aims to identify and characterize neurobiological markers for major depressive disorder (MDD) from resting-state brain functional MRI. We examined the abnormality in the regional homogeneity (ReHo) and amplitude of low-frequency fluctuation (ALFF) in first-episode, drug-naive major depressive disorder (fMDD), and remitted major depressive disorder (rMDD) and correlated these fluctuations with clinical markers of MDD. We conducted a retrospective study and reviewed the medical records of 43 patients with fMDD...
June 15, 2018: Neuroreport
https://www.readbyqxmd.com/read/29912442/eqtls-weighted-genetic-correlation-analysis-detected-brain-region-differences-in-genetic-correlations-for-complex-psychiatric-disorders
#5
Yan Wen, Feng Zhang, Xiancang Ma, Qianrui Fan, Wenyu Wang, Jiawen Xu, Feng Zhu, Jingcan Hao, Awen He, Li Liu, Xiao Liang, Yanan Du, Ping Li, Cuiyan Wu, Sen Wang, Xi Wang, Yujie Ning, Xiong Guo
Background: Psychiatric disorders are usually caused by the dysfunction of various brain regions. Incorporating the genetic information of brain regions into correlation analysis can provide novel clues for pathogenetic and therapeutic studies of psychiatric disorders. Methods: The latest genome-wide association study (GWAS) summary data of schizophrenia (SCZ), bipolar disorder (BIP), autism spectrum disorder (AUT), major depression disorder (MDD), and attention-deficit/hyperactivity disorder (ADHD) were obtained from the Psychiatric GWAS Consortium (PGC)...
June 15, 2018: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/29912267/religiosity-guilt-altruism-and-forgiveness-in-alcohol-dependence-results-of-a-cross-sectional-and-prospective-cohort-study
#6
Birgit Braun, Christian Weinland, Johannes Kornhuber, Bernd Lenz
Aims: To compare religious denomination, religiosity, guilt, altruism and forgiveness between alcohol-dependent patients and healthy control subjects and to prospectively investigate their relationship to the disorder's 24-month course following in-patient withdrawal treatment. Method: This study in Franconia (a mainly Christian protestant region of southern Germany) applied six questionnaires to evaluate religiosity, guilt, altruism and forgiveness in 166 alcohol-dependent in-patients during withdrawal and compared findings with that of 240 healthy controls...
April 18, 2018: Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism
https://www.readbyqxmd.com/read/29912203/an-invasive-method-for-the-activation-of-the-mouse-dentate-gyrus-by-high-frequency-stimulation
#7
Zhe Zhao, Haitao Wu
Electrical high-frequency stimulation (HFS), using implanted electrodes targeting various brain regions, has been proven as an effective treatment for various neurological and psychiatric disorders. HFS in the deep region of the brain, also named deep-brain stimulation (DBS), is becoming increasingly important in clinical trials. Recent progress in the field of high-frequency DBS (HF-DBS) surgery has begun to spread the possibility of utilizing this invasive technique to other situations, such as treatment for major depression disorder (MDD), obsessive-compulsive disorder (OCD), and so on...
June 2, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29912021/update-on-the-genetics-of-nonbacterial-osteomyelitis-in-humans
#8
Allison J Cox, Polly J Ferguson
PURPOSE OF REVIEW: To summarize the current advances in our understanding or the genetic basis of nonbacterial osteomyelitis. RECENT FINDINGS: Chronic recurrent multifocal osteomyelitis (CRMO) is a complex genetic disorder. Past discoveries identified several single gene defects (LPIN2, Pstpip2 and IL1RN) that cause IL-1-mediated sterile multifocal osteomyelitis. Recently Lorden et al.'s studies show that LIPIN2 deficiency can activate the NLRP3 inflammasome through alterations in the function of P2X7 receptor providing evidence that Majeed syndrome is an NLRP3 inflammasomopathy...
June 13, 2018: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/29911623/characterization-of-complex-chronic-pain-patients
#9
E-B Hysing, T Gordh, R Karlsten, L Smith
Aims Treatment of the most complex chronic pain patients, often not accepted in regular pain management programs, remains a challenge.To beable todesign interventions for these patients we must know what characterize them. The aim of this study was to characterize a subgroup of pain patients, treated in our in-patient rehabilitation programme, organized at the University Hospital in Uppsala, the only tertiary treatment for pain patients in Sweden. Methods The study was approved by the Regional Ethical Review Board in Uppsala (Dnr 2010/182)...
December 29, 2017: Scandinavian Journal of Pain
https://www.readbyqxmd.com/read/29911614/treatment-of-chronic-canalithiasis-can-be-beneficial-for-patients-with-vertigo-dizziness-and-chronic-musculoskeletal-pain-including-whiplash-related-pain
#10
Wenche Iglebekk, Carsten Tjell, Peter Borenstein
Background and aim Chronic musculoskeletal pain, e.g. whiplash associated disorders (WAD), fibromyalgia and myalgia, causes significant burden on both the individual and on society as a whole. In a previous study, the authors concluded that there is a likely connection between chronic benign paroxysmal positional vertigo (BPPV)/canalithiasis and headache, neck pain, generalized pain, fatigue, cognitive dysfunctions as well as tinnitus. The balance dysfunction in BPPV/canalithiasis is dynamic and not static...
December 29, 2017: Scandinavian Journal of Pain
https://www.readbyqxmd.com/read/29911581/real-time-ultrasound-guided-infraorbital-nerve-block-to-treat-trigeminal-neuralgia-using-a-high-concentration-of-tetracaine-dissolved-in-bupivacaine
#11
Kenichi Takechi, Amane Konishi, Kotaro Kikuchi, Shiho Fujioka, Tomomi Fujii, Toshihiro Yorozuya, Koh Kuzume, Takumi Nagaro
Background Trigeminal neuralgia is a neuropathic disorder characterized by episodes of intense pain in the face. Drug therapy is the first choice of treatment. However, in cases where drug therapy are contraindicated due to side effects, patients can get pain relief from lengthy neurosurgical procedures. Alternatively, a peripheral trigeminal nerve block can be easily performed in an outpatient setting. Therefore it is a useful treatment option for the acute paroxysmal period of TN in patients who cannot use drug therapy...
December 29, 2017: Scandinavian Journal of Pain
https://www.readbyqxmd.com/read/29911470/endothelial-cells-are-critical-regulators-of-iron-transport-in-a-model-of-the-human-blood-brain-barrier
#12
Brian Chiou, Emma H Neal, Aaron B Bowman, Ethan S Lippmann, Ian A Simpson, James R Connor
Iron delivery to the brain is essential for multiple neurological processes such as myelination, neurotransmitter synthesis, and energy production. Loss of brain iron homeostasis is a significant factor in multiple neurological disorders. Understanding the mechanism by which the transport of iron across the blood-brain barrier (BBB) is regulated is crucial to address the impact of iron deficiency on brain development and excessive accumulation of iron in neurodegenerative diseases. Using induced pluripotent stem cell (iPSC)-derived brain endothelial cells (huECs) as a human BBB model, we demonstrate the ability of transferrin, hepcidin, and DMT1 to impact iron transport and release...
January 1, 2018: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/29910816/a-review-of-notch-processing-with-new-insights-into-ligand-independent-notch-signaling-in-t-cells
#13
REVIEW
Martin Peter Steinbuck, Susan Winandy
The Notch receptor is an evolutionarily highly conserved transmembrane protein essential to a wide spectrum of cellular systems, and its deregulation has been linked to a vast number of developmental disorders and malignancies. Regulated Notch function is critical for the generation of T-cells, in which abnormal Notch signaling results in leukemia. Notch activation through trans -activation of the receptor by one of its ligands expressed on adjacent cells has been well defined. In this canonical ligand-dependent pathway, Notch receptor undergoes conformational changes upon ligand engagement, stimulated by a pulling-force on the extracellular fragment of Notch that results from endocytosis of the receptor-bound ligand into the ligand-expressing cell...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29910027/nutritional-status-affects-cortical-folding-lessons-learned-from-anorexia-nervosa
#14
Fabio Bernardoni, Joseph A King, Daniel Geisler, Julian Birkenstock, Friederike I Tam, Kerstin Weidner, Veit Roessner, Tonya White, Stefan Ehrlich
BACKGROUND: Cortical folding is thought to remain relatively invariant after birth. Therefore, differences seen in psychiatric disorders have been proposed as early biomarkers or used as intermediate phenotypes in imaging genetics studies. Anorexia nervosa (AN) is associated with drastic and rapid structural brain alterations and thus may be an ideal model disorder to study environmental influences on cortical folding. METHODS: To date, the only two studies in AN applied different methods (local gyrification index and mean curvature) and found seemingly discordant results...
May 23, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29910000/biallelic-mutations-in-myorg-cause-autosomal-recessive-primary-familial-brain-calcification
#15
Xiang-Ping Yao, Xuewen Cheng, Chong Wang, Miao Zhao, Xin-Xin Guo, Hui-Zhen Su, Lu-Lu Lai, Xiao-Huan Zou, Xue-Jiao Chen, Yuying Zhao, En-Lin Dong, Ying-Qian Lu, Shuang Wu, Xiaojuan Li, Gaofeng Fan, Hongjie Yu, Jianfeng Xu, Ning Wang, Zhi-Qi Xiong, Wan-Jin Chen
Primary familial brain calcification (PFBC) is a genetically heterogeneous disorder characterized by bilateral calcifications in the basal ganglia and other brain regions. The genetic basis of this disorder remains unknown in a significant portion of familial cases. Here, we reported a recessive causal gene, MYORG, for PFBC. Compound heterozygous or homozygous mutations of MYORG co-segregated completely with PFBC in six families, with logarithm of odds (LOD) score of 4.91 at the zero recombination fraction...
June 6, 2018: Neuron
https://www.readbyqxmd.com/read/29909788/more-than-just-statics-temporal-dynamics-of-intrinsic-brain-activity-predicts-the-suicidal-ideation-in-depressed-patients
#16
Jiao Li, Xujun Duan, Qian Cui, Huafu Chen, Wei Liao
BACKGROUND: Major depressive disorder (MDD) is associated with high risk of suicide. Conventional neuroimaging works showed abnormalities of static brain activity and connectivity in MDD with suicidal ideation (SI). However, little is known regarding alterations of brain dynamics. More broadly, it remains unclear whether temporal dynamics of the brain activity could predict the prognosis of SI. METHODS: We included MDD patients (n = 48) with and without SI and age-, gender-, and education-matched healthy controls (n = 30) who underwent resting-state functional magnetic resonance imaging...
June 18, 2018: Psychological Medicine
https://www.readbyqxmd.com/read/29909766/-phenomenology-clinical-diagnostics-and-treatment-of-hallucinations
#17
Daniela Hubl
Phenomenology, clinical diagnostics and treatment of hallucinations Abstract. Hallucinations are perceptions without any stimulus. They occur typically in schizophrenia, but they can be found in other psychiatric or medical disorders as well. Recently, hallucinations have been increasingly reported to occur with a high prevalence in the general population and they are conceptualised as continuum from a physiological to pathological especially psychotic phenomenon. Schizophrenic hallucinations exhibit a special proximity to language and for this they can be considered as diagnostic...
June 2018: Therapeutische Umschau. Revue Thérapeutique
https://www.readbyqxmd.com/read/29909585/abnormal-brain-activation-during-emotion-processing-of-euthymic-bipolar-patients-taking-different-mood-stabilizers
#18
Linling Li, Erni Ji, Fei Tang, Yunhai Qiu, Xue Han, Shengli Zhang, Zhiguo Zhang, Haichen Yang
Numerous functional magnetic resonance imaging studies have been conducted to elucidate emotion processing of patients with bipolar disorder (BD), but due to different inclusion criteria used, especially for the history of medication use, the results for euthymic BD patients are inconsistent. For this reason, brain functional effects of psychopharmacological treatments on BD patients have been investigated by numerous fMRI studies, but there is no existing report for brain functional effects of different mood stabilizers...
June 16, 2018: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/29909556/the-urinary-microbiome-in-women-with-mixed-urinary-incontinence-compared-to-similarly-aged-controls
#19
Yuko M Komesu, Holly E Richter, Benjamin Carper, Darrell L Dinwiddie, Emily S Lukacz, Nazema Y Siddiqui, Vivian W Sung, Halina M Zyczynski, Beri Ridgeway, Rebecca G Rogers, Lily A Arya, Donna Mazloomdoost, Marie G Gantz
INTRODUCTION & HYPOTHESIS: Previous studies have suggested that women with urinary incontinence have an altered urinary microbiome. We hypothesized that the microbiome in women with mixed urinary incontinence (MUI) differed from controls and tested this hypothesis using bacterial gene sequencing techniques. METHODS: This multicenter study compared the urinary microbiome in women with MUI and similarly aged controls. Catheterized urine samples were obtained; v4-6 regions of the 16S rRNA gene were sequenced to identify bacteria...
June 16, 2018: International Urogynecology Journal
https://www.readbyqxmd.com/read/29909301/intrinsic-functional-neurocircuitry-associated-with-treatment-response-to-transdiagnostic-cbt-in-bipolar-disorder-with-anxiety
#20
Kristen K Ellard, Aishwarya G Gosai, Emily E Bernstein, Navneet Kaur, Lousia G Sylvia, Joan A Camprodon, Darin D Dougherty, Andrew A Nierenberg, Thilo Deckersbach
BACKGROUND: Anxiety in bipolar disorder (BD) exacerbates emotion dysregulation and reduces treatment response. We recently conducted a pilot trial of transdiagnostic CBT to target anxiety and emotion dysregulation in BD adjunctive to pharmacotherapy. Reductions in depression and anxiety symptoms were significantly predicted by baseline levels of neuroticism and perceived affective control, as well as changes over time in emotion regulation skills. The present study investigates mechanism of treatment response by examining the relationship between baseline emotion regulation-related neural circuitry and trial outcomes...
June 2, 2018: Journal of Affective Disorders
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