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https://www.readbyqxmd.com/read/28627729/the-immune-deficiency-of-chromosome-22q11-2-deletion-syndrome
#1
Megan Morsheimer, Terri F Brown Whitehorn, Jennifer Heimall, Kathleen E Sullivan
The syndrome originally described by Dr. Angelo DiGeorge had immunodeficiency as a central component. When a 22q11.2 deletion was identified as the cause in the majority of patients with DiGeorge syndrome, the clinical features of 22q11.2 deletion syndrome became so expansive that the immunodeficiency became less prominent in our thinking about the syndrome. This review will focus on the immune system and the changes in our understanding over the past 50 years. Initially characterized as a pure defect in T cell development, we now appreciate that many of the clinical features related to the immunodeficiency are well downstream of the limitation imposed by a small thymus...
June 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28614817/shifting-focus-from-hydration-for-performance-to-hydration-for-health
#2
Erica T Perrier
Over the past 10 years, literature on hydration biomarkers has evolved considerably - from (de)hydration assessment towards a more global definition of biomarkers of hydration in daily life. This shift in thinking about hydration markers was largely driven by investigating the differences that existed between otherwise healthy individuals whose habitual, ad-libitum drinking habits differ, and by identifying physiological changes in low-volume drinkers who subsequently increase their water intake. Aside from obvious differences in urinary volume and concentration, a growing body of evidence is emerging that links differences in fluid intake with small, but biologically significant, differences in vasopressin (copeptin), glomerular filtration rate, and markers of metabolic dysfunction or disease...
2017: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/28604073/-fear-and-avoidance-beliefs-in-chronic-pain-the-translation-and-validation-of-the-hungarian-version-of-the-fabq-questionnaire
#3
Eszter Simoncsics, Adrienne Stauder
INTRODUCTION: Chronic low back pain is one of the top reasons for seeking medical advice. In the background of the dysfunction besides the somatic pain dysfunctional thinking, negative emotional states, or interpersonal problems can be identified as well. One of the most important factors making the rehabilitation difficult is the fear and avoidance of physical activity. AIM: The aim of the study was to adapt and validate the Fear Avoidance Beliefs Questionnaire (FABQ-H) in Hungarian...
June 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28602030/variable-expressivity-of-a-likely-pathogenic-variant-in-kcnq2-in-a-three-generation-pedigree-presenting-with-intellectual-disability-with-childhood-onset-seizures
#4
Stacy Hewson, Klajdi Puka, Saadet Mercimek-Mahmutoglu
KCNQ2 has been reported as a frequent cause of autosomal dominant benign familial neonatal seizures. De novo likely pathogenic variants in KCNQ2 have been described in neonatal or early infantile onset epileptic encephalopathy patients. Here, we report a three-generation family with six affected patients with a novel likely pathogenic variant (c.628C>T; p.Arg210Cys) in KCNQ2. Four family members, three adults and a child, presented with a childhood seizure onset with variability in the severity of seizures and response to treatment, intellectual disability (ID) as well as behavioral problems...
June 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28582650/magical-thinking-and-decision-making-strategies-among-late-adolescent-regular-gamblers-a-mediation-model
#5
Alessia Passanisi, Giuseppe Craparo, Ugo Pace
In the present study, the relation between the tendency to seek supernatural connections between external events and one's own thoughts, words, and actions and gambling among late adolescents has been studied. Psychologists have called this tendency magical thinking. The principal aim of the present study was to test the fit of an explanatory model of risk that starts from magical thinking and passes through maladaptive decision-making strategies, culminating with pathological gambling. Two hundred twenty-two Italian late adolescents, regularly attending bingo halls, aged between 19 and 21 years, completed measures on magical thinking, decision-making strategies, and gambling...
June 2, 2017: Journal of Adolescence
https://www.readbyqxmd.com/read/28578790/the-role-of-interneurons-in-autism-and-tourette-syndrome
#6
REVIEW
Maximiliano Rapanelli, Luciana Romina Frick, Christopher Pittenger
The brain includes multiple types of interconnected excitatory and inhibitory neurons that together allow us to move, think, feel, and interact with the environment. Inhibitory interneurons (INs) comprise a small, heterogeneous fraction, but they exert a powerful and tight control over neuronal activity and consequently modulate the magnitude of neuronal output and, ultimately, information processing. IN abnormalities are linked to two pediatric psychiatric disorders with high comorbidity: autism spectrum disorder (ASD) and Tourette syndrome (TS)...
May 31, 2017: Trends in Neurosciences
https://www.readbyqxmd.com/read/28558878/the-neurobiology-of-depression-an-integrated-view
#7
REVIEW
Jason Dean, Matcheri Keshavan
Major Depressive Disorder (MDD) is one of the most common and debilitating mental disorders; however, its etiology remains unclear. This paper aims to summarize the major neurobiological underpinnings of depression, synthesizing the findings into a comprehensive integrated view. A literature review was conducted using Pubmed. Search terms included "depression" or "MDD" AND "biology", "neurobiology", "inflammation", "neurogenesis", "monoamine", and "stress". Articles from 1995 to 2016 were reviewed with a focus on the connection between different biological and psychological models...
June 2017: Asian Journal of Psychiatry
https://www.readbyqxmd.com/read/28518148/hepatocyte-polyploidization-and-its-association-with-pathophysiological-processes
#8
REVIEW
Min-Jun Wang, Fei Chen, Joseph T Y Lau, Yi-Ping Hu
A characteristic cellular feature of the mammalian liver is the progressive polyploidization of the hepatocytes, where individual cells acquire more than two sets of chromosomes. Polyploidization results from cytokinesis failure that takes place progressively during the course of postnatal development. The proportion of polyploidy also increases with the aging process or with cellular stress such as surgical resection, toxic stimulation, metabolic overload, or oxidative damage, to involve as much as 90% of the hepatocytes in mice and 40% in humans...
May 18, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28492608/sinonasal-symptom-related-sleep-disorders-before-and-after-surgery-for-nasal-polyposis
#9
D T Nguyen, F Arous, P Gallet, M Felix-Ravelo, P L Nguyen-Thi, C Rumeau, R Jankowski
BACKGROUND: Patients with nasal polyposis (NP) complain of several sinonasal symptoms that impact their sleep and quality of life. However, data on sleep disorders related to NP symptoms, before and after surgery, is poor. The aim of the present study was to analyze sleep complaints related to each NP symptom, before and after surgery, using the Dynachron questionnaire. METHODOLOGY: 63 patients operated for NP were included in this prospective study. They filled the DyNaChron questionnaire one day before surgery (V0), 6 weeks (V1) and 7 months (V2) after surgery...
May 10, 2017: Rhinology
https://www.readbyqxmd.com/read/28488208/erythropoietin-rescues-memory-impairment-in-a-rat-model-of-chronic-cerebral-hypoperfusion-via-the-epo-r-jak2-stat5-pi3k-akt-gsk-3%C3%AE-pathway
#10
Shengli Ma, Juwu Chen, Chen Chen, Na Wei, Jingjing Xu, Guohui Yang, Nan Wang, Yu Meng, Jia Ren, Zongchao Xu
Vascular dementia is the second most common cause of dementia in older people and is characterized by the sudden onset of impairments in thinking skills and behavior, which generally occur following a stroke. Unfortunately, effective therapy for vascular dementia remains inadequate. Erythropoietin (EPO) is a glycoprotein hormone that controls erythropoiesis, or red blood cell production. Recently, a prominent role for EPO has been defined in the nervous system, and there is growing interest in the potential therapeutic use of EPO for neuroprotection...
May 9, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28466133/planning-functioning-and-impulsiveness-in-obsessive-compulsive-disorder
#11
Riccardo Maria Martoni, Roberta de Filippis, Stefania Cammino, Mattia Giuliani, Gaia Risso, Maria Cristina Cavallini, Laura Bellodi
Planning ability (PA) is a key aspect of cognitive functioning and requires subjects to identify and organise the necessary steps to achieve a goal. Despite the central role of executive dysfunction in patients with obsessive-compulsive disorder (OCD), deficits in PA have been investigated leading to contrasting results. Given these inconsistencies, the main aim of our work is to give a deeper and clearer understanding of PA in OCD patients. Moreover, we are interested in investigating the relationship between PAs and impulsivity traits and other clinical variables...
May 2, 2017: European Archives of Psychiatry and Clinical Neuroscience
https://www.readbyqxmd.com/read/28447827/interpersonal-dysfunction-in-personality-disorders-a-meta-analytic-review
#12
Sylia Wilson, Catherine B Stroud, C Emily Durbin
Personality disorders are defined in the current psychiatric diagnostic system as pervasive, inflexible, and stable patterns of thinking, feeling, behaving, and interacting with others. Questions regarding the validity and reliability of the current personality disorder diagnoses prompted a reconceptualization of personality pathology in the most recent edition of the psychiatric diagnostic manual, in an appendix of emerging models for future study. To evaluate the construct and discriminant validity of the current personality disorder diagnoses, we conducted a quantitative synthesis of the existing empirical research on associations between personality disorders and interpersonal functioning, defined using the interpersonal circumplex model (comprising orthogonal dimensions of agency and communion), as well as functioning in specific relationship domains (parent-child, family, peer, romantic)...
April 27, 2017: Psychological Bulletin
https://www.readbyqxmd.com/read/28444715/can-a-patient-reported-outcome-be-adequate-without-assessing-quality-of-life-in-lower-urinary-tract-dysfunction
#13
REVIEW
Nikki Cotterill, Andrea Tubaro
AIMS AND METHODS: A think tank was convened at the sixth ICI-RS meeting held in the United Kingdom on September 2015, to consider the adequacy of patient reported outcome (PRO) measurement if quality of life (QoL) evaluation were excluded. Rigorous methodology is proposed for the development of PROs and much is written about this process but the necessity for QoL inclusion is rarely discussed. The decision was therefore taken to consider what QoL evaluation provides and what these data provide...
April 2017: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/28444713/do-we-assess-urethral-function-adequately-in-lutd-and-nlutd-ici-rs-2015
#14
REVIEW
Jerzy B Gajewski, Peter F W M Rosier, Sajjad Rahnama'i, Paul Abrams
INTRODUCTION: Urethral function, as well as anatomy, play a significant role in voiding reflex and abnormalities in one or both contribute to the pathophysiology of Lower Urinary Tract Dysfunction (LUTD). We have several diagnostic tools to assess the urethral function or dysfunction but the question remains, are these adequate? METHODS: This is a report of the proceedings of Think Tank P1: 'Do we assess urethral function adequately in LUTD and NLUTD?' from the annual International Consultation on Incontinence-Research Society, which took place September 22-24, 2014 in Bristol, UK...
April 2017: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/28382128/endolymphatic-sac-surgery-for-m%C3%A3-ni%C3%A3-re-s-disease-current-opinion-and-literature-review
#15
Maria de Lourdes Flores García, Carolina de la Llata Segura, Juan Carlos Cisneros Lesser, Carlo Pane Pianese
Introduction The endolymphatic sac is thought to maintain the hydrostatic pressure and endolymph homeostasis for the inner ear, and its dysfunction may contribute to the pathophysiology of Ménière's disease. Throughout the years, different surgical procedures for intractable vertigo secondary to Ménière's disease have been described, and though many authors consider these procedures as effective, there are some who question its long-term efficacy and even those who think that vertigo control is achieved more due to a placebo effect than because of the procedure itself...
April 2017: International Archives of Otorhinolaryngology
https://www.readbyqxmd.com/read/28353567/are-normal-hips-being-labeled-as-femoroacetabular-impingement-due-to-ee-angle
#16
Tian You, Bei Yang, Xin-Tao Zhang, Xiao-Cheng Jiang, Shuang Wang, Wen-Tao Zhang
Gluteal muscle contracture (GMC) is a clinical syndrome characterized by gait abnormality and limb dysfunction, as well as secondary deformities of pelvis and femur. Femoroacetabular impingement (FAI) typically could be diagnosed on the basis of computed tomography (CT) such as the equatorial-edge angle (EE angle), but it did not work well in GMC patients. In this study, we retrospected all image data and found small EE angles in GMCs, which meant retroverted acetabulum; however, none of them showed no symptoms and signs of FAI...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28341275/current-thinking-about-the-management-of-dysfunction-of-the-temporomandibular-joint-a-review
#17
REVIEW
S Rajapakse, N Ahmed, A J Sidebottom
Increasingly the management of TMJ pathology is becoming a subspecialist interest. The number of patients having TMJ joint replacement had steadily increased over the last decade and there is now NICE guidance on this matter. Whilst the evidence of the management of TMJ disease is limited and there are few randomised controlled trials, the incidence of TMJ pathology has not changed and there is a requirement for guidance on the management. Whilst previously patients with TMJ pain were managed surgically, this is changing, and the vast bulk of initial management is non-surgical/medical...
May 2017: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/28335700/cochlear-implants-in-the-management-of-hearing-loss-in-neurofibromatosis-type-2
#18
Frances Harris, James R Tysome, Neil Donnelly, Juliette Durie-Gair, Gemma Crundwell, Yu Chuen Tam, Richard D Knight, Zebunnisa H Vanat, Nicola Folland, Patrick Axon
OBJECTIVE: Review of cochlear implant (CI) outcomes in patients with Neurofibromatosis Type 2 (NF2), implanted in the presence of an ipsilateral vestibular schwannoma (VS). Hearing restoration was combined in some cases with a Bevacizumab regime. METHOD: Retrospective review of 12 patients, managed over the period 2009-2016, at a tertiary referral multidisciplinary NF2 clinic. The patients are grouped by hearing outcomes to explore likely protective factors, and to generate a proposed decision-making tool for the selection of either CI or Auditory Brainstem Implant (ABI)...
May 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28321291/re-thinking-barriers-to-organizational-change-in-public-hospitals
#19
Nigel Edwards, Richard B Saltman
Public hospitals are well known to be difficult to reform. This paper provides a comprehensive six-part analytic framework that can help policymakers and managers better shape their organizational and institutional behavior. The paper first describes three separate structural characteristics which, together, inhibit effective problem description and policy design for public hospitals. These three structural constraints are i) the dysfunctional characteristics found in most organizations, ii) the particular dysfunctions of professional health sector organizations, and iii) the additional dysfunctional dimensions of politically managed organizations...
2017: Israel Journal of Health Policy Research
https://www.readbyqxmd.com/read/28241130/nardostachys-jatamansi-targets-bdnf-trkb-to-alleviate-ketamine-induced-schizophrenia-like-symptoms-in-rats
#20
Anjali Janardhanan, Anjana Sadanand, Arambakkam Janardhanam Vanisree
OBJECTIVE: Schizophrenia, a common neurological disorder appearing in the late teens or early adulthood, is characterized by disorganized thinking, behaviour, and perception of emotions. Aberrant N-methyl-D-aspartate (NMDA) receptor-mediated synaptic plasticity is a major pathological event here due to dysfunction of dopamine and glutamate transmission at NMDA receptors. De-regulated brain-derived neurotrophic factor (BDNF), i.e., its signalling through the tropomyosin receptor kinase B (TrkB) receptor, is a major feature of schizophrenia...
2016: Neuropsychobiology
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