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https://www.readbyqxmd.com/read/28327575/analysis-of-exome-data-for-4293-trios-suggests-gpi-anchor-biogenesis-defects-are-a-rare-cause-of-developmental-disorders
#1
Alistair T Pagnamenta, Yoshiko Murakami, John M Taylor, Consuelo Anzilotti, Malcolm F Howard, Venessa Miller, Diana S Johnson, Shereen Tadros, Sahar Mansour, I Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel E Harrison, Bronwen Kerr, Niko Popitsch, Taroh Kinoshita, Jenny C Taylor, Usha Kini
Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epilepsy, microcephaly, congenital malformations and mild dysmorphic features. To determine the incidence of GPI-anchor defects, we analysed the exome data from 4293 parent-child trios recruited to the Deciphering Developmental Disorders (DDD) study. All probands recruited had a neurodevelopmental disorder...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28325099/client-centred-practice-from-the-perspective-of-danish-patients-with-hand-related-disorders
#2
Alice Ørts Hansen, Hanne Kaae Kristensen, Ragnhild Cederlund, Henrik Hein Lauridsen, Hans Tromborg
PURPOSE: The objectives of this study were to investigate perceptions of client-centred practice among Danish patients with hand-related disorders engaged in rehabilitation at outpatient clinics, and to decide on domains to serve as a conceptual foundation for item generation in the development of a new, standardized questionnaire to evaluate the experience of client-centredness among patients with hand-related disorders. METHOD: Focus group interviews were held with 25 patients with hand-related disorders from six outpatient hand clinics in Denmark...
March 21, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28318449/through-the-lens-of-attachment-relationship-stable-did-active-did-and-other-trauma-based-mental-disorders
#3
Adah Sachs
Some people with DID, despite years of DID-specific therapy (using the three-phase approach, ISSTD, 2011), seem unable to get better. In particular, they seem unable to remain physically safe ("Phase One") and report continued exposure to abuse. As every fresh hurt causes fresh dissociation, their DID becomes further entrenched over time. Moreover, as dissociation makes the person more vulnerable to being re-abused, they become caught up in a vicious cycle, which further obstructs their efforts toward recovery...
February 23, 2017: Journal of Trauma & Dissociation
https://www.readbyqxmd.com/read/28318416/conflicts-between-motivational-systems-related-to-attachment-trauma-key-to-understanding-the-intra-family-relationship-between-abused-children-and-their-abusers
#4
Giovanni Liotti
Research on disorganization of infant attachment provides evidence that it can be caused not only by violent aggression or very early sexual abuse, but also by covert maltreating behavior, which includes the abdication of the caregiver's responsibility to soothe the infant's distress. This paper argues that both overtly abusive caregivers and merely "abdicating" caregivers may cause disorganization of infant attachment through a simultaneous and conflicting activation of the motivational systems governing attachment and survival defense in the infant...
March 1, 2017: Journal of Trauma & Dissociation
https://www.readbyqxmd.com/read/28318413/treatment-strategies-for-programming-and-ritual-abuse
#5
Colin Ross
Individuals in treatment for dissociative identity disorder not uncommonly describe childhood involvement in organized, multi-perpetrator ritual abuse. They described being "programmed" by the perpetrators and feel that the programming is out of their control. The author has developed a set of treatment strategies and interventions for such cases. These are based on the principle of therapeutic neutrality and can be used no matter what assumptions the therapist makes about the historical accuracy of the memories and beliefs...
February 16, 2017: Journal of Trauma & Dissociation
https://www.readbyqxmd.com/read/28316800/bis-%C3%AE-benzoato-%C3%AE%C2%BA-2-o-o-bis-benzoato-%C3%AE%C2%BAo-octabutyldi-%C3%AE-3-oxido-tetra-tin-iv
#6
Hans Reuter, Coco K Y A Okio
The asymmetric unit of the title compound, [{Sn(C4H9)2(C6H5COO)}2O]2, consists of two half molecules, completed by application of inversion symmetry. Both mol-ecules adopt a ladder structure typical for this class of dimeric tetra-organodistannoxane di-carboxyl-ates characterized by a centrosymmetric four-membered (Sn-O)2 ring of rhomboidal shape that is extended on both sides by folded six-membered Sn-O-C rings. To a first approximation, both kinds of Sn atoms (Sn i and Sn o ) are trigonal-bipyramidally coordinated...
March 1, 2017: Acta Crystallographica. Section E, Crystallographic Communications
https://www.readbyqxmd.com/read/28297941/noise-delocalization-and-quantum-diffusion-in-one-dimensional-tight-binding-models
#7
Ehsan Gholami, Zahra Mohammaddoust Lashkami
As an unusual type of anomalous diffusion behavior, namely (transient) superballistic transport, has been experimentally observed recently, but it is not yet well understood. In this paper, we investigate the white noise effect (in the Markov approximation) on quantum diffusion in one-dimensional tight-binding models with a periodic, disordered, and quasiperiodic region of size L attached to two perfect lattices at both ends in which the wave packet is initially located at the center of the sublattice. We find that in a completely localized system, inducing noise could delocalize the system to a desirable diffusion phase...
February 2017: Physical Review. E
https://www.readbyqxmd.com/read/28290942/increased-postdeployment-use-of-medication-for-common-mental-disorders-in-danish-gulf-war-veterans
#8
Lars Ravnborg Nissen, Christian Stoltenberg, Mia Sadowa Vedtofte, Anni Brit Sternhagen Nielsen, Jacob Louis Marott, Finn Gyntelberg, Bernadette Guldager
BACKGROUND: Gulf War veterans (GWVs) have an elevated risk of reporting symptoms of mental disorders as compared with nondeployed military controls. A difficulty in the Gulf War health research is that most health outcomes are self-reported; therefore, it is highly relevant to study objective outcomes in this line of research. The Danish National Prescription Registry provides an opportunity to use the prescription of drugs as an objective evaluation of the impact of mental health disorders at the individual level...
March 2017: Military Medicine
https://www.readbyqxmd.com/read/28283747/magnetic-resonance-diffusion-tensor-imaging-for-the-pedunculopontine-nucleus-proof-of-concept-and-histological-correlation
#9
A T D L Alho, C Hamani, E J L Alho, R E da Silva, G A B Santos, R C Neves, L L Carreira, C M M Araújo, G Magalhães, D B Coelho, M C Alegro, M G M Martin, L T Grinberg, C A Pasqualucci, H Heinsen, E T Fonoff, E Amaro
The pedunculopontine nucleus (PPN) has been proposed as target for deep brain stimulation (DBS) in patients with postural instability and gait disorders due to its involvement in muscle tonus adjustments and control of locomotion. However, it is a deep-seated brainstem nucleus without clear imaging or electrophysiological markers. Some studies suggested that diffusion tensor imaging (DTI) may help guiding electrode placement in the PPN by showing the surrounding fiber bundles, but none have provided a direct histological correlation...
March 10, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28278497/true-nondisjunction-of-whole-bivalents-in-oocytes-with-attachment-and-congression-defects
#10
Martin Sodek, Kristina Kovacovicova, Martin Anger
Chromosome segregation in mammalian oocytes is prone to errors causing aneuploidy with consequences such as precocious termination of development or severe developmental disorders. Aneuploidy also represents a serious problem in procedures utilizing mammalian gametes and early embryos in vitro. In our study, we focused on congression defects during meiosis I and observed whole nondisjoined bivalents in meiosis II as a direct consequence, together with a substantially delayed first polar body extrusion. We also show that the congression defects are accompanied by less stable attachments of the kinetochores...
March 10, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28278042/a-cell-attracting-composite-of-lumbar-fusion-cage
#11
Busra Gunay, Nesrin Hasirci, Vasif Hasirci
Lumbar fusion cages are devices used in spinal fusion procedures for disorders such as spondylosis and degenerative disc diseases that may occur due to age, trauma or genetic reasons. These devices are most frequently made of metals and polymers. The mechanical properties of such devices should be comparable to the bone to avoid stress shielding. Besides, cages should interact with the cells to prevent extrusion and achieve satisfactory fusion. In this study, poly(methylmethacrylate) (PMMA) and hydroxyapatite (HAp) were compounded to create products with HAp contents up to 40% (w/w), processed by hot melt extrusion and injection molded to produce composites with maximum polymer-mineral interaction...
March 13, 2017: Journal of Biomaterials Science. Polymer Edition
https://www.readbyqxmd.com/read/28277947/dissociation-in-families-experiencing-intimate-partner-violence
#12
Alison Miller
This paper, using an illustrative case study, presents the hypothesis that cyclical spouse abusers suffer from a dissociative condition (or perhaps a personality disorder in which dissociation is a prominent feature) that results from disorganized attachment. The partner of the spouse abuser tries various unsuccessful strategies to appease her spouse in order to change his behavior. If the relationship lasts for years, she adapts by developing a milder but parallel dissociative process, developing chains of state-dependent memory and resultant ego states for the different phases of the domestic abuse cycle...
February 16, 2017: Journal of Trauma & Dissociation
https://www.readbyqxmd.com/read/28273822/therapeutic-horseback-riding-crossover-effects-of-attachment-behaviors-with-family-pets-in-a-sample-of-children-with-autism-spectrum-disorder
#13
Jessie D Petty, Zhaoxing Pan, Briar Dechant, Robin L Gabriels
The unique needs of individuals with autism spectrum disorder (ASD) have implications for animal welfare. This nested pilot study examined the effects of a randomized trial of 10-week therapeutic horseback riding (THR) intervention versus a no-horse barn activity (BA) control group on children's behaviors with family pets. Sixty-seven (THR n = 31; BA n = 36) participants with ASD (ages 6-16 years) with one or more family pet, were enrolled from a larger trial (n = 116) following their randomization to intervention groups, stratified by nonverbal intellectual ability...
March 3, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28269458/towards-detection-of-sleep-apnea-events-by-combining-different-non-contact-measurement-modalities
#14
Abdul Q Javaid, Carlo M Noble, Russell Rosenberg, Mary A Weitnauer
In this work, we extract features from an under-the-mattress impulse radio ultra-wide band (IR-UWB) radar and a microphone, placed on the side table of the bed, to classify epochs belonging to normal sleep and those that contain an apnea event in them. Sleep apnea is the most common form of sleep related breathing disorder in adults with an estimated prevalance of 5-15%. The common diagnostic process for sleep apnea, polysomnography (PSG), involves sleeping in well-equipped sleep clinics. The cost and discomfort associated with the process has spurred research towards the design of portable home-based monitoring devices...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28267664/carotid-free-floating-thrombus-causing-stroke-in-a-young-woman-with-lupus-anticoagulant-a-case-report-and-review-of-the-literature
#15
Abolfazl Afsharfard, Barmak Gholizadeh, Younes Abdolalian, Seyed Masoud Hosseini
INTRODUCTION: In young adults Stroke is a challenging condition and various tests are needed to diagnose and manage its underlying problems. Free floating thrombosis of internal carotid artery (FFT-ICA) is one of the rare problems among carotid artery diseases which can lead to stroke in adults. Owing to limited cases of FFT-ICA there is not a worldwide accepted consensus on management of FFT-ICA, but some recurrences after medical management have been reported in the literature. PRESENTATION OF CASE: A-25-year old woman was referred to hospital with sudden onset aphasia and right sided hemiparesis...
February 20, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28263091/attachment-and-reflective-functioning-in-women-with-borderline-personality-disorder
#16
Deborah Badoud, Paco Prada, Rosetta Nicastro, Charlotte Germond, Patrick Luyten, Nader Perroud, Martin Debbané
Insecure attachment and impairments in reflective functioning (RF) are thought to play a critical role in borderline personality disorder (BPD). In particular, the mentalization-based model argues that insecure attachment indirectly accounts for increased BPD features, notably via disruption of RF capacities. Although the mediation relationship between attachment, RF, and BPD is supported by previous evidence, it remains to be directly tested in adults with BPD. In the current study, a sample of 55 female adult BPD patients and 105 female healthy controls completed a battery of self-report measures to investigate the interplay between attachment, RF capacities, and BPD clinical status...
March 6, 2017: Journal of Personality Disorders
https://www.readbyqxmd.com/read/28255461/dynamic-control-of-synaptic-adhesion-and-organizing-molecules-in-synaptic-plasticity
#17
REVIEW
Gabby Rudenko
Synapses play a critical role in establishing and maintaining neural circuits, permitting targeted information transfer throughout the brain. A large portfolio of synaptic adhesion/organizing molecules (SAMs) exists in the mammalian brain involved in synapse development and maintenance. SAMs bind protein partners, forming trans-complexes spanning the synaptic cleft or cis-complexes attached to the same synaptic membrane. SAMs play key roles in cell adhesion and in organizing protein interaction networks; they can also provide mechanisms of recognition, generate scaffolds onto which partners can dock, and likely take part in signaling processes as well...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28254669/reactive-attachment-disinhibited-social-engagement-disorders-callous-unemotional-traits-and-comorbid-disorders
#18
Susan Dickerson Mayes, Susan L Calhoun, Daniel A Waschbusch, Rosanna P Breaux, Raman Baweja
BACKGROUND: DSM-5 Reactive Attachment Disorder (RAD) and Disinhibited Social Engagement Disorder (DSED) are rare, understudied, and controversial disorders. METHODS: Comorbidity in children diagnosed with RAD or DSED was compared with comorbidity in ADHD and autism to determine if RAD/DSED comorbidity differed from that for the two most common disorders in child psychiatric clinics. Samples included 4-17-year-olds, 20 with RAD and/or DSED, 933 with autism, and 895 with ADHD...
February 28, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28254426/dna-damage-in-lymphocytes-of-patients-suffering-from-complex-traumatization
#19
Liana M Bergholz, Claudia Subic-Wrana, Daniel Heylmann, Manfred E Beutel, Jörg Wiltink, Bernd Kaina
It has been shown that complex childhood traumatization (CCT) increases the risk for severe somatic and mental disorders. However, the somatic pathways linking maladaptive affect regulation and disease are not understood. Here we tested the hypothesis that traumatic stress is linked to the induction of DNA damage. We isolated peripheral lymphocytes (PBLCs) from blood of healthy donors and patients suffering from CCT. Cells were immobilised on slides and stained with anti-phosphohistone 2AX (γH2AX). The number of γH2AX foci, which are an accepted surrogate marker of DNA double-strand breaks (DSBs), was determined and set in relation to the patient characteristics...
February 9, 2017: DNA Repair
https://www.readbyqxmd.com/read/28249204/fabrication-of-nitrogen-doped-carbon-dots-for-screening-the-purine-metabolic-disorder-in-human-fluids
#20
N S K Gowthaman, Bharathi Sinduja, Rangasamy Karthikeyan, K Rubini, S Abraham John
Fabrication of nitrogen-doped carbon dots (N-CDs) electrode for the screening of purine metabolic disorder was described in this paper. Peroxynitrite is a short-lived oxidant species that is a potent inducer of cell death. Uric acid (UA) can scavenge the peroxynitrite to avoid the formation of nitrotyrosine, which is formed from the reaction between peroxynitrite and tyrosine (Try). Scavenging the peroxynitrite avoids the inactivation of cellular enzymes and modification of the cytoskeleton. Reduced level of UA decreases the ability of the body from preventing the peroxynitrite toxicity...
February 24, 2017: Biosensors & Bioelectronics
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