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Affective instability

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https://www.readbyqxmd.com/read/28327142/exome-sequencing-identified-rare-variants-in-genes-hspg2-and-atp2b4-in-a-family-segregating-developmental-dysplasia-of-the-hip
#1
Sulman Basit, Alia M Albalawi, Essa Alharby, Khalid I Khoshhal
BACKGROUND: Developmental dysplasia of the hip (DDH) is a common pathological condition of the musculoskeletal system in infants which results in a congenital and developmental malformation of the hip joint. DDH is a spectrum of pathologies affecting the infant hip ranging from asymptomatic subtle radiographic signs through mild instability to frank dislocations with acetabular dysplasia. A Saudi family with three affected individuals with DDH was identified and genetic analysis was performed to detect the possible genetic defect(s) underlying DDH in the affected members of the family...
March 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28327087/nt5c2-novel-splicing-variant-expands-the-phenotypic-spectrum-of-spastic-paraplegia-spg45-case-report-of-a-new-member-of-thin-corpus-callosum-spg-subgroup
#2
Mahmoud F Elsaid, Khalid Ibrahim, Nader Chalhoub, Ahmed Elsotouhy, Noora El Mudehki, Alice Abdel Aleem
BACKGROUND: Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative diseases. Thin Corpus Callosum (TCC) associated HSP is a distinguished subgroup of complex forms. Purines and pyrimidine, the basic DNA and RNA components, are regulating the cell metabolism, having roles in signal transduction, energy preservation and cellular repair. Genetic defects in nucleotide metabolism related genes have been only recently implicated in brain and neurodegenerative diseases' pathogenesis...
March 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28324794/the-socio-political-context-of-migration-and-reproductive-health-disparities-the-case-of-early-sexual-initiation-among-mexican-origin-immigrant-young-women
#3
Kate Coleman-Minahan
Prior research often explains the lower risk of early sexual initiation among foreign-born Mexican-origin young women by a patriarchal and sexually conservative "traditional Latino culture." This definition overlooks structural factors such as exploitation of migrant workers, and conflates gender inequality and sexual expectations. I use an intersectional framework and the theory of gender and power to explore how gender inequality and sexual expectations are both influenced by structural factors and affect reproductive health outcomes...
March 9, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28321154/host-pathogen-interactions-in-helicobacter-pylori-related-gastric-cancer
#4
EDITORIAL
Magdalena Chmiela, Zuzanna Karwowska, Weronika Gonciarz, Bujana Allushi, Paweł Stączek
Helicobacter pylori (H. pylori), discovered in 1982, is a microaerophilic, spiral-shaped gram-negative bacterium that is able to colonize the human stomach. Nearly half of the world's population is infected by this pathogen. Its ability to induce gastritis, peptic ulcers, gastric cancer and mucosa-associated lymphoid tissue lymphoma has been confirmed. The susceptibility of an individual to these clinical outcomes is multifactorial and depends on H. pylori virulence, environmental factors, the genetic susceptibility of the host and the reactivity of the host immune system...
March 7, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28314254/synchronous-endometrial-and-ovarian-cancer-in-young-women-case-report-and-review-of-the-literature
#5
REVIEW
Askin Dogan, Beate Schultheis, Günther A Rezniczek, Ziad Hilal, Cem Cetin, Günther Häusler, Clemens B Tempfer
BACKGROUND: Young women with endometrial cancer (EC) have an increased risk of synchronous ovarian cancer. The prognosis of women with synchronous endometrial and ovarian cancer (SEOC) is good. A high proportion of affected women have hereditary non-polyposis colon cancer syndrome (HNPCC). CASE PRESENTATION: We present the case of a 45-year-old woman with histologically proven endometrioid adenocarcinoma of the endometrium (pT1B, G2, R0 without lymphovascular space invasion)...
March 2017: Anticancer Research
https://www.readbyqxmd.com/read/28314048/modeling-electrokinetics-in-ionic-liquids
#6
Chao Wang, Jie Bao, Wenxiao Pan, Xin Sun
Using direct numerical simulations, we provide a thorough study regarding the electrokinetics of ionic liquids. In particular, modified Poisson-Nernst-Planck (MPNP) equations are solved to capture the crowding and overscreening effects characteristic of an ionic liquid. For modeling electrokinetic flows in an ionic liquid, the MPNP equations are coupled with Navier-Stokes equations to study the coupling of ion transport, hydrodynamics, and electrostatic forces. Specifically, we consider the ion transport between two parallel charged surfaces, charging dynamics in a nanopore, capacitance of electric double-layer capacitors, electro-osmotic flow in a nanochannel, electroconvective instability on a plane ion-selective surface, and electroconvective flow on a curved ion-selective surface...
March 17, 2017: Electrophoresis
https://www.readbyqxmd.com/read/28304131/copy-number-variation-in-19-italian-multiplex-families-with-autism-spectrum-disorder-importance-of-synaptic-and-neurite-elongation-genes
#7
Carla Lintas, Chiara Picinelli, Ignazio Stefano Piras, Roberto Sacco, Claudia Brogna, Antonio M Persico
Autism Spectrum Disorder (ASD) is endowed with impressive heritability estimates and high recurrence rates. Its genetic underpinnings are nonetheless very heterogeneous, with common, and rare contributing variants located in hundreds of different loci, each characterized by variable levels of penetrance. Multiplex families from single ethnic groups represent a useful means to reduce heterogeneity and enhance genetic load. We screened 19 Italian ASD multiplex families (3 triplets and 16 duplets, total N = 41 ASD subjects), using array-CGH (Agilent 180 K)...
March 17, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28302734/time-dependent-genetic-effects-on-gene-expression-implicate-aging-processes
#8
Julien Bryois, Alfonso Buil, Pedro G Ferreira, Nikolaos I Panousis, Andrew A Brown, Ana Viñuela, Alexandra Planchon, Deborah Bielser, Kerrin Small, Tim Spector, Emmanouil T Dermitzakis
Gene expression is dependent on genetic and environmental factors. In the last decade, a large body of research has significantly improved our understanding of the genetic architecture of gene expression. However, it remains unclear whether genetic effects on gene expression remain stable over time. Here, we show, using longitudinal whole-blood gene expression data from a twin cohort, that the genetic architecture of a subset of genes is unstable over time. In addition, we identified 2213 genes differentially expressed across time points that we linked with aging within and across studies...
March 16, 2017: Genome Research
https://www.readbyqxmd.com/read/28300842/cd95-ligand-induces-senescence-in-mismatch-repair-deficient-human-colon-cancer-via-chronic-caspase-mediated-induction-of-dna-damage
#9
Danielle A Raats, Nicola Frenkel, Susanne J van Schelven, Inne HMBorel Rinkes, Jamila Laoukili, Onno Kranenburg
CD95 is best known for its ability to induce apoptosis via a well-characterized pathway involving caspase-mediated proteolytic events. However, in apoptosis-resistant cell lines of diverse cancer types stimulation of CD95 primarily has pro-tumorigenic effects that affect many of the hallmarks of cancer. For instance, in colon cancer cells with a mutant KRAS gene CD95 primarily promotes invasion and metastasis. In the current study, we further investigated the context dependency of the consequences of CD95 activation in colon cancer...
March 16, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28299915/metabolism-plays-the-key-roles-in-th-cells-differentiation
#10
A Hosseinzadeh, S Soukhtehzari, M Ghaedi, R Mansouri
The increasing rate of autoimmunity in recent decades cannot be related to only genetic instabilities and disorders. Diet can directly influence our health. Studies have shown that there is a relationship between nutritional elements and alteration in the immune system. Among immune cells, the function of T lymphocyte is important in directing immune response. T CD4+ cells lead other immune cells to respond to pathogens by secreting cytokines. HIV+ patients, who have largely lost their T CD4+ cells, are susceptible to opportunistic infections, which do not normally affect healthy people...
December 31, 2016: Reumatismo
https://www.readbyqxmd.com/read/28298597/sat2-foot-and-mouth-disease-virus-fmdv-structurally-modified-for-increased-thermostability
#11
Katherine A Scott, Abhay Kotecha, Julian Seago, Jingshan Ren, Elizabeth E Fry, David I Stuart, Bryan Charleston, Francois F Maree
Foot-and-mouth disease virus (FMDV) is notoriously unstable, particularly the O and SAT serotypes. Consequently, vaccines derived from heat-labile SAT viruses have been linked to the induction of poor duration immunity and hence require more frequent vaccinations to ensure protection. In-silico calculations predicted residue substitutions that would increase interactions at the inter-pentameric interface supporting increased stability. We assessed the stability of the 18 recombinant mutant viruses for their growth kinetics; antigenicity; plaque morphology; genetic stability; temperature, ionic and pH stability using the thermofluor and inactivation assays, in order to evaluate potential SAT2 vaccine candidates with improved stability...
March 15, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28297972/instabilities-of-a-rotating-helical-rod-in-a-viscous-fluid
#12
Yunyoung Park, Yongsam Kim, William Ko, Sookkyung Lim
Bacteria such as Vibrio alginolyticus swim through a fluid by utilizing the rotational motion of their helical flagellum driven by a rotary motor. The flagellar motor is embedded in the cell body and turns either clockwise (CW) or counterclockwise (CCW), which may lead to straight forward or backward swimming, or reorientation of the cell. In this paper we investigate the dynamics of the helical flagellum by adopting the Kirchhoff rod theory in which the flagellum is described as a space curve associated with orthonormal triads that measure the degree of bending and twisting of the rod...
February 2017: Physical Review. E
https://www.readbyqxmd.com/read/28297911/electron-weibel-instability-in-relativistic-counterstreaming-plasmas-with-flow-aligned-external-magnetic-fields
#13
A Grassi, M Grech, F Amiranoff, F Pegoraro, A Macchi, C Riconda
The Weibel instability driven by two symmetric counterstreaming relativistic electron plasmas, also referred to as current-filamentation instability, is studied in a constant and uniform external magnetic field aligned with the plasma flows. Both the linear and nonlinear stages of the instability are investigated using analytical modeling and particle-in-cell simulations. While previous studies have already described the stabilizing effect of the magnetic field, we show here that the saturation stage is only weakly affected...
February 2017: Physical Review. E
https://www.readbyqxmd.com/read/28297037/safety-of-silicone-oil-removal-in-cases-of-gunshot-perforating-eye-injuries
#14
Hammouda Hamdy Ghoraba, Sameh Mohamed Elgouhary, Hosam Osman Mansour, Hitham Mamoun Abdel-Fattah, Mohamed Amin Heikal, Emad Mohamed Elgemaey
BACKGROUND AND OBJECTIVE: To evaluate the feasibility and safety of silicone oil (SO) removal in cases of gunshot perforating eye injuries (PEI). PATIENTS AND METHODS: A retrospective, consecutive, interventional study from medical records regarding cases of gunshot PEI during the periods of Egyptian political instability (January 2011 until December 2013). The main outcomes were to evaluate the feasibility of SO removal in cases of gunshot PEI and management of retinal detachment (RD) after SO removal in such cases...
March 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28295125/treatment-of-locked-posterior-shoulder-dislocation-with-bone-defect
#15
Yousuf M Khira, Adel M Salama
Locked posterior shoulder dislocation is an uncommon condition and is associated with a reverse Hill-Sachs lesion in 50% of cases. The condition is likely to occur in cases of violent trauma, seizures, or electric shock. Unrecognized dislocation with humeral head fracture affects joint function and humeral head vascularity and may lead to chronic instability, osteonecrosis, and osteoarthritis. A group of 12 patients, including 10 men and 2 women, with neglected locked posterior shoulder dislocation with a reverse Hill-Sachs lesion were treated with the modified McLaughlin technique...
March 14, 2017: Orthopedics
https://www.readbyqxmd.com/read/28293979/work-related-difficulties-in-patients-with-traumatic-brain-injury-a-systematic-review-on-predictors-and-associated-factors
#16
Chiara Scaratti, Matilde Leonardi, Davide Sattin, Silvia Schiavolin, Michelle Willems, Alberto Raggi
PURPOSE: To address the content of work-related difficulties and explore which variables are associated to or determinants of these difficulties in persons that suffered from Traumatic Brain Injury (TBI). METHOD: Papers published between 1993 and February 2015 were included. Quality was judged as poor, acceptable, good or excellent. Determinants were extracted from longitudinal data, associated variables from cross-sectional data; variables were grouped by similarity...
May 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28293511/de-novo-reconstruction-of-a-hybrid-patella-by-staged-fabrication-of-a-microvascular-bone-transplant-with-an-osteointegrated-prosthetic-socket
#17
Goetz A Giessler, Christian Hendrich
Total patellectomy is sometimes unavoidable but usually results in severely impaired function, pain, and instability in the affected knee. Any patellar prosthetic solutions rely on a certain amount of remaining bone and therefore are not applicable after total patellectomy. Traditionally, reconstruction of a neopatella by avascular or allogeneic bone grafts is hampered by mechanical failure, resorption, or infection. We developed a new, 3-stage approach to reconstruct a hybrid patella composed of a revascularized scapula tip transplant fabricated with a prosthetic socket...
December 2016: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28293302/3-d-computer-modelling-of-malunited-posterior-malleolar-fractures-effect-of-fragment-size-and-offset-on-ankle-stability-contact-pressure-and-pattern
#18
Teresa Alonso-Rasgado, David Jimenez-Cruz, Michael Karski
BACKGROUND: The positioning of the fracture fragment of a posterior malleolus fracture is critical to healing and a successful outcome as malunion of a posterior malleolar fracture, a condition seen in clinical practice, can affect the dynamics of the ankle joint, cause posterolateral rotational subluxation of the talus and ultimately lead to destruction of the joint. Current consensus is to employ anatomic reduction with internal fixation when the fragment size is larger than 25 to 33% of the tibial plafond...
2017: Journal of Foot and Ankle Research
https://www.readbyqxmd.com/read/28291250/site-to-site-interdomain-communication-may-mediate-different-loss-of-function-mechanisms-in-a-cancer-associated-nqo1-polymorphism
#19
Encarnación Medina-Carmona, Jose L Neira, Eduardo Salido, Julian E Fuchs, Rogelio Palomino-Morales, David J Timson, Angel L Pey
Disease associated genetic variations often cause intracellular enzyme inactivation, dysregulation and instability. However, allosteric communication of mutational effects to distant functional sites leading to loss-of-function remains poorly understood. We characterize here interdomain site-to-site communication by which a common cancer-associated single nucleotide polymorphism (c.C609T/p.P187S) reduces the activity and stability in vivo of NAD(P)H:quinone oxidoreductase 1 (NQO1). NQO1 is a FAD-dependent, two-domain multifunctional stress protein acting as a Phase II enzyme, activating cancer pro-drugs and stabilizing p53 and p73α oncosuppressors...
March 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28285037/a-targeted-approach-to-ligament-balancing-using-kinetic-sensors
#20
Kenneth A Gustke, Gregory J Golladay, Martin W Roche, Leah C Elson, Christopher R Anderson
BACKGROUND: Currently, soft-tissue imbalance contributes to several of the foremost reasons for revision following primary TKA, including instability, stiffness, and aseptic loosening. In order to decrease the incidence of soft-tissue imbalance, intraoperative sensors were developed to provide real-time, quantitative load data within the knee. This study examines the intraoperative data of a group of multicenter patients to determine how targeted ligament releases affect intra-articular loading, and to understand which types of releases are necessary to achieve quantified ligament balance...
February 16, 2017: Journal of Arthroplasty
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