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https://www.readbyqxmd.com/read/28730063/community-stakeholders-perspectives-on-the-role-of-occupational-therapy-in-primary-healthcare-implications-for-practice
#1
Deshini Naidoo, Jacqueline Van Wyk, Robin Joubert
BACKGROUND: Primary healthcare (PHC) is central to increased access and transformation in South African healthcare. There is limited literature about services required by occupational therapists in PHC. Despite policy being in place, the implementation of services at grassroots level does not always occur adequately. OBJECTIVES: This study aimed at gaining an understanding of the challenges of being disabled and the services required by occupational therapists (OTs) in rural communities in order to better inform the occupational therapy (OT) training curriculum...
2017: Afr J Disabil
https://www.readbyqxmd.com/read/28726664/expanded-phenotype-of-tmem67-gene-mutation-case-report
#2
T Tkemaladze, G Melikishvili, V Kherkheulidze, A Melikishvili, T Davitaia
Human ciliopathies are a class of multi-organ genetic disorders caused by defects of proteins expressed at the primary cilium, an organelle present on the cell surface of almost all cell types. Thus far, dozens of causative genes for ciliopathies have been identified and many of them are known to cause allelic disease. Of particular interest is the TMEM67 gene, encoding the transmembrane protein meckelin. The involvement of the mutant TMEM67 gene is known to be associated with a broad range of clinical presentations, namely Joubert syndrome 6 (JBTS6), nephronophthisis 11 (NPHP11), Bardet-Biedel syndrome (BBS), COACH syndrome, and lethal Meckel syndrome type 3 (MKS3)...
June 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28721821/current-perspectives-for-the-use-of-gonane-progesteronergic-drugs-in-the-treatment-of-central-hypoventilation-syndromes
#3
Camille Loiseau, Florence Cayetanot, Fanny Joubert, Anne-Sophie Perrin-Terrin, Philippe Cardot, Marie-Noëlle Fiamma, Alain Frugiere, Christian Straus, Laurence Bodineau
BACKGROUND: Central alveolar hypoventilation syndromes (CHS) encompass neurorespiratory diseases resulting from congenital or acquired neurological disorders. Hypercapnia, acidosis, and hypoxemia resulting from CHS negatively affect physiological functions and can be life-threatening. To date, the absence of pharmacological treatment implies that the patients must receive assisted ventilation throughout their lives. OBJECTIVE: To highlight the relevance of determining conditions in which using gonane synthetic progestins could be of potential clinical interest for the treatment of CHS...
July 19, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#4
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28715585/retinoic-acid-engineered-amniotic-membrane-used-as-graft-or-homogenate-positive-effects-on-corneal-alkali-burns
#5
Romain Joubert, Estelle Daniel, Nicolas Bonnin, Aurélie Comptour, Christelle Gross, Corinne Belville, Frédéric Chiambaretta, Loïc Blanchon, Vincent Sapin
Purpose: Alkali burns are the most common, severe chemical ocular injuries, their functional prognosis depending on corneal wound healing efficiency. The purpose of our study was to compare the benefits of amniotic membrane (AM) grafts and homogenates for wound healing in the presence or absence of previous all-trans retinoic acid (atRA) treatment. Methods: Fifty male CD1 mice with reproducible corneal chemical burn were divided into five groups, as follows: group 1 was treated with saline solution; groups 2 and 3 received untreated AM grafts or grafts treated with atRA, respectively; and groups 4 and 5 received untreated AM homogenates or homogenates treated with atRA, respectively...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28702068/hyperglycemia-induced-oxidative-stress-and-heart-disease-cardioprotective-effects-of-rooibos-flavonoids-and-phenylpyruvic-acid-2-o-%C3%AE-d-glucoside
#6
REVIEW
Phiwayinkosi V Dludla, Elizabeth Joubert, Christo J F Muller, Johan Louw, Rabia Johnson
Diabetic patients are at an increased risk of developing heart failure when compared to their non-diabetic counter parts. Accumulative evidence suggests chronic hyperglycemia to be central in the development of myocardial infarction in these patients. At present, there are limited therapies aimed at specifically protecting the diabetic heart at risk from hyperglycemia-induced injury. Oxidative stress, through over production of free radical species, has been hypothesized to alter mitochondrial function and abnormally augment the activity of the NADPH oxidase enzyme system resulting in accelerated myocardial injury within a diabetic state...
2017: Nutrition & Metabolism
https://www.readbyqxmd.com/read/28700940/in%C3%A2-vitro-modeling-using-ciliopathy-patient-derived-cells-reveals-distinct-cilia-dysfunctions-caused-by-cep290-mutations
#7
Hiroko Shimada, Quanlong Lu, Christine Insinna-Kettenhofen, Kunio Nagashima, Milton A English, Elizabeth M Semler, Jacklyn Mahgerefteh, Artur V Cideciyan, Tiansen Li, Brian P Brooks, Meral Gunay-Aygun, Samuel G Jacobson, Tiziana Cogliati, Christopher J Westlake, Anand Swaroop
Mutations in CEP290, a transition zone protein in primary cilia, cause diverse ciliopathies, including Leber congenital amaurosis (LCA) and Joubert-syndrome and related disorders (JSRD). We examined cilia biogenesis and function in cells derived from CEP290-LCA and CEP290-JSRD patients. CEP290 protein was reduced in LCA fibroblasts with no detectable impact on cilia; however, optic cups derived from induced pluripotent stem cells (iPSCs) of CEP290-LCA patients displayed less developed photoreceptor cilia. Lack of CEP290 in JSRD fibroblasts resulted in abnormal cilia and decreased ciliogenesis...
July 11, 2017: Cell Reports
https://www.readbyqxmd.com/read/28696101/a-systematic-first-principles-study-of-binary-metal-hydrides
#8
Natacha Bourgeois, Jean-Claude Crivello, Pierre Cénédèse, Jean-Marc Joubert
First principles calculations were systematically performed for 31 binary metal-hydrogen (M-H) systems on a set of 30 potential crystal structures selected on the basis of experimental data and possible interstitial sites. For each M-H system, the calculated enthalpies of formation were represented as functions of H composition. The zero point energy correction was considered for the most stable hydrides via additional harmonic phonon calculations. The sequence of stable hydrides (ground-state) given by the convex hull was found in satisfactory agreement with the experimental data...
July 11, 2017: ACS Combinatorial Science
https://www.readbyqxmd.com/read/28695576/mechanical-ventilation-and-extracorporeal-membrane-oxygenation-as-a-bridging-strategy-to-lung-transplantation-significant-gains-in-survival
#9
Awori J Hayanga, Angela L Du, Kyla Joubert, Tuft Marie, Rachel Baird, Joseph Pilewski, Mathew Morrell, Jonathan D'Cunha, Norihisa Shigemura
Mechanical ventilation (MV) and extracorporeal membrane oxygenation (ECMO) are increasingly used to bridge patients to lung transplantation. We investigated the impact of using MV, with or without ECMO, prior to lung transplantation on survival after transplantation by performing a retrospective analysis of 826 patients who underwent transplantation at our high-volume center. Recipient characteristics and posttransplant outcomes were analyzed. Most lung transplant recipients (729 patients) did not require bridging; 194 of these patients were propensity matched with patients who were bridged using MV alone (48 patients) or MV and ECMO (49 patients)...
July 11, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28688632/ecmo-support-in-lung-transplantation-a-contemporary-analysis-of-hospital-charges-in-the-united-states
#10
J W Awori Hayanga, Norihisa Shigemura, Jonathan K Aboagye, Chris Ensor, Mary Amanda Dew, Heather K Hayanga, Stephen A Esper, Kyla Joubert, Matthew R Morrell, Jonathan D'Cunha
BACKGROUND: There is little in the literature pertaining to cost associated with the use of extracorporeal membrane oxygenation (ECMO) in lung transplantation. We sought to evaluate charges associated with the index hospitalization among recipients of a lung transplant who required ECMO to identify factors that increase hospital charges in these patients. METHODS: With the use of the Nationwide Inpatient Sample, we reviewed data pertaining to patients who received a lung transplant between 2000 and 2011 and stratified them into ECMO and non-ECMO groups based on use of ECMO...
July 6, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28684216/evaluation-of-dna-damage-in-wistar-rat-tissues-with-hyperlipidemia-induced-by-tyloxapol
#11
Joubert Aires de Sousa, Patrícia Pereira, Mariangela da Costa Allgayer, Norma Possa Marroni, Alexandre de Barros Falcão Ferraz, Jaqueline Nascimento Picada
Hyperlipidemia is characterized by high levels of plasma triglycerides and LDL-cholesterol, accompanied by reduced HDL-cholesterol levels, and is often associated with an increased risk of cardiovascular diseases. However, few studies have shown the effects of hyperlipidemia on genomic stability. The aim of this study was to evaluate DNA damage provided by tyloxapol induced hyperlipidemia. Tyloxapol, a non-ionic surfactant, which increases the activity of the enzyme HMG-CoA reductase and decreases clearance of lipoproteins, was used to induce hyperlipidemia in Wistar rats...
July 3, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28682058/revealing-the-cell-material-interface-with-nanometer-resolution-by-focused-ion-beam-scanning-electron-microscopy
#12
Francesca Santoro, Wenting Zhao, Lydia-Marie Joubert, Liting Duan, Jan Schnitker, Yoeri van de Burgt, Hsin-Ya Lou, Bofei Liu, Alberto Salleo, Lifeng Cui, Yi Cui, Bianxiao Cui
The interface between cells and nonbiological surfaces regulates cell attachment, chronic tissue responses, and ultimately the success of medical implants or biosensors. Clinical and laboratory studies show that topological features of the surface profoundly influence cellular responses; for example, titanium surfaces with nano- and microtopographical structures enhance osteoblast attachment and host-implant integration as compared to a smooth surface. To understand how cells and tissues respond to different topographical features, it is of critical importance to directly visualize the cell-material interface at the relevant nanometer length scale...
July 21, 2017: ACS Nano
https://www.readbyqxmd.com/read/28680603/isolated-congenital-hepatic-fibrosis-associated-with-tmem67-mutations-report-of-a-new-genotype-phenotype-relationship
#13
Ida Vogel, Peter Ott, Dorte Lildballe, Stephen Hamilton-Dutoit, Hendrik Vilstrup, Henning Grønbæk
We report an otherwise healthy 32-year-old man with portal hypertension, variceal bleeding, and congenital hepatic fibrosis with ductal plate malformation. Genetic screening identified two TMEM67 mutations. Biallelic TMEM67 mutations are known to cause Joubert/Meckel syndrome or nephronopthisis with hepatic fibrosis, but have never been found in isolated hepatic fibrosis.
July 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28679688/compound-heterozygous-alterations-in-intraflagellar-transport-protein-cluap1-in-a-child-with-a-novel-joubert-and-oral-facial-digital-overlap-syndrome
#14
Jennifer J Johnston, Chanjae Lee, Ingrid M Wentzensen, Melissa A Parisi, Molly M Crenshaw, Julie C Sapp, Jeffrey M Gross, John B Wallingford, Leslie G Biesecker
Disruption of normal ciliary function results in a range of diseases collectively referred to as ciliopathies. Here we report a child with a phenotype that overlapped with Joubert, oral-facial-digital, and Pallister-Hall syndromes including brain, limb, and craniofacial anomalies. We performed exome-sequence analysis on a proband and both parents, filtered for putative causative variants, and Sanger-verified variants of interest. Identified variants in CLUAP1 were functionally analyzed in a Xenopus system to determine their effect on ciliary function...
July 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28675569/on-atoms-in-molecules-energies-from-kohn-sham-calculations
#15
Vincent Tognetti, Laurent Joubert
In this paper, we discuss three ways for partitioning the total molecular energy into additive atomic contributions within the framework of Bader's atoms-in-molecules theory and in the particular context of Kohn-Sham density functional theory. The first one is derived from the virial theorem, while the two other schemes, coined "standard" and "model", are based on Pendás' interacting quantum atoms decomposition. They are then compared on a dataset of molecules of interest for direct applications in organic chemistry and biochemistry...
July 4, 2017: Chemphyschem: a European Journal of Chemical Physics and Physical Chemistry
https://www.readbyqxmd.com/read/28667057/an-elusive-ciliopathy-joubert-syndrome
#16
Carlo Canepa, Ben Burton, Abdul Muhith
The police brought a 65-year-old female patient to the EADU after being found 'roaming the streets' in an apparent state of confusion. This was her third admission under the same circumstances during the last 3 years. Neurological examination revealed (1) cognitive impairment, (2) oculomotor apraxia, (3) abnormal cancellation of vestibular ocular reflex, (4) mild ataxia and (5) mild hypotonia. Renal function was abnormal and liver function was normal. No retinal disturbance was found. The head CT on admission was normal for stroke and the lumbar puncture was negative for encephalitis...
June 29, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28665584/geometric-phase-effects-in-nonadiabatic-dynamics-near-conical-intersections
#17
Ilya G Ryabinkin, Loïc Joubert-Doriol, Artur F Izmaylov
Dynamical consideration that goes beyond the common Born-Oppenheimer approximation (BOA) becomes necessary when energy differences between electronic potential energy surfaces become small or vanish. One of the typical scenarios of the BOA breakdown in molecules beyond diatomics is a conical intersection (CI) of electronic potential energy surfaces. CIs provide an efficient mechanism for radiationless electronic transitions: acting as "funnels" for the nuclear wave function, they enable rapid conversion of the excessive electronic energy into the nuclear motion...
June 30, 2017: Accounts of Chemical Research
https://www.readbyqxmd.com/read/28660425/the-fate-of-mengovirus-on-fiberglass-filter-of-air-handling-units
#18
Victor Bandaly, Aurélie Joubert, Pierre Le Cann, Yves Andres
One of the most important topics that occupy public health problems is the air quality. That is the reason why mechanical ventilation and air handling units (AHU) were imposed by the different governments in the collective or individual buildings. Many buildings create an artificial climate using heating, ventilation, and air-conditioning systems. Among the existing aerosols in the indoor air, we can distinguish the bioaerosol with biological nature such as bacteria, viruses, and fungi. Respiratory viral infections are a major public health issue because they are usually highly infective...
June 28, 2017: Food and Environmental Virology
https://www.readbyqxmd.com/read/28639807/the-impact-of-time-and-repeated-exposure-on-famous-person-knowledge-in-amnestic-mild-cognitive-impairment-and-alzheimer-s-disease
#19
Sophie Benoit, Isabelle Rouleau, Roxane Langlois, Valérie Dostie, Marie-Jeanne Kergoat, Sven Joubert
OBJECTIVE: Famous people knowledge has been shown to be impaired early in Alzheimer's disease (AD) and amnestic mild cognitive impairment (aMCI). However, the question of whether recently acquired knowledge is more impaired than remotely acquired knowledge remains a matter of debate. The aim of this study was to investigate the patterns of semantic memory impairment in aMCI and AD by investigating 2 factors that may influence the retrieval of such knowledge, namely remoteness and frequency of repetition of information over time...
June 22, 2017: Neuropsychology
https://www.readbyqxmd.com/read/28638854/autoimmune-episodic-ataxia-in-patients-with-anti-caspr2-antibody-associated-encephalitis
#20
Bastien Joubert, Florent Gobert, Laure Thomas, Margaux Saint-Martin, Virginie Desestret, Philippe Convers, Véronique Rogemond, Géraldine Picard, François Ducray, Dimitri Psimaras, Jean-Christophe Antoine, Jean-Yves Delattre, Jérôme Honnorat
OBJECTIVE: To report paroxysmal episodes of cerebellar ataxia in a patient with anti-contactin-associated protein-like 2 (CASPR2) antibody-related autoimmune encephalitis and to search for similar paroxysmal ataxia in a cohort of patients with anti-CASPR2 antibody-associated autoimmune encephalitis. METHODS: We report a patient with paroxysmal episodes of cerebellar ataxia observed during autoimmune encephalitis with anti-CASPR2 antibodies. In addition, clinical analysis was performed in a retrospective cohort of 37 patients with anti-CASPR2 antibodies to search for transient episodes of ataxia...
July 2017: Neurology® Neuroimmunology & Neuroinflammation
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