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R Joubert, F Farguette, O Chevreaud, F Chiambaretta, E H Souied
We report the case of a twenty-year-old man with a unilateral maculopathy responsible for an acute visual acuity loss and a sudden absolute central scotoma. His schizoid personality made the medical history fruitless. The patient's best corrected visual acuity was 20/60. Clinical examination revealed a strictly unilateral maculopathy with pigment remodeling and hyper-autofluorescent areas. Through this case report, we describe the characteristics of the lesion and the pathway to the diagnosis: a laser pointer-induced photic injury...
October 18, 2016: Journal Français D'ophtalmologie
L Dollet, J Magré, M Joubert, C Le May, A Ayer, L Arnaud, C Pecqueur, V Blouin, B Cariou, X Prieur
Loss-of-function mutations in BSCL2 are responsible for Berardinelli-Seip congenital lipodystrophy, a rare disorder characterized by near absence of adipose tissue associated with insulin resistance. Seipin-deficient (Bscl2(-/-)) mice display an almost total loss of white adipose tissue (WAT) with residual brown adipose tissue (BAT). Previous cellular studies have shown that seipin deficiency alters white adipocyte differentiation. In this study, we aimed to decipher the consequences of seipin deficiency in BAT...
October 17, 2016: Scientific Reports
Jacques Joubert, Germaine B Foka, Benjamin P Repsold, Douglas W Oliver, Erika Kapp, Sarel F Malan
A series of 7-substituted coumarin derivatives were designed and synthesised to display ChE and MAO-B inhibitory activity. The compounds consisted out of a coumarin structure (MAO-B inhibitor) and benzyl-, piperidine-, N-benzylpiperidine- or p-bromo-N-benzylpiperizine moiety, resembling the N-benzylpiperidine function of donepezil (ChE inhibitor), connected via an alkyl ether linkage at the 7 position. The biological assay results indicated that all the compounds (1-25) displayed selective inhibition to hMAO-B over hMAO-A, with the benzyloxy series (1-8, 10-13) showing nano-molar hMAO-B inhibition (IC50: 0...
September 15, 2016: European Journal of Medicinal Chemistry
Christine Graven, Kim Brock, Keith D Hill, Sue Cotton, Lynette Joubert
BACKGROUND AND PURPOSE: Depression is a common issue after stroke. A focus on assisting people to achieve their personal participation goals may reduce levels of depression. The aim of this study was to investigate the effectiveness of a person-centered, integrated approach on facilitating goal achievement in the first year poststroke on depressive symptoms. METHODS: This study was a randomized controlled trial that addressed ways to enhance participation in patient-valued activities and intermittently screen for adverse sequelae postdischarge from rehabilitation...
October 13, 2016: Stroke; a Journal of Cerebral Circulation
Philip A May, Anna-Susan Marais, Marlene M de Vries, Wendy O Kalberg, David Buckley, Julie M Hasken, Colleen M Adnams, Ronel Barnard, Belinda Joubert, Marise Cloete, Barbara Tabachnick, Luther K Robinson, Melanie A Manning, Kenneth Lyons Jones, Heidre Bezuidenhout, Soraya Seedat, Charles D H Parry, H Eugene Hoyme
BACKGROUND: The prevalence and characteristics of the continuum of diagnoses within fetal alcohol spectrum disorders (FASD) were researched in a fifth sample in a South African community. METHODS: An active case ascertainment approach was employed among all first grade learners in this community (n=862). Following individual examination by clinical geneticists/dysmorphologists, cognitive/behavioral testing, and maternal interviews, final diagnoses were made in multidisciplinary case conferences...
October 6, 2016: Drug and Alcohol Dependence
Thimmineni Haritha
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Chen-Jei Hong, Bruce A Hamilton
Zfp423 encodes a 30-zinc finger transcription factor that intersects several canonical signaling pathways. Zfp423 mutations result in ciliopathy-related phenotypes, including agenesis of the cerebellar vermis in mice and Joubert syndrome (JBTS19) and nephronophthisis (NPHP14) in humans. Unlike most ciliopathy genes, Zfp423 encodes a nuclear protein and its developmental expression is complex, leading to alternative proposals for cellular mechanisms. Here we show that Zfp423 is expressed by cerebellar granule cell precursors, that loss of Zfp423 in these precursors leads to cell-intrinsic reduction in proliferation, loss of response to Shh, and primary cilia abnormalities that include diminished frequency of both Smoothened and IFT88 localization...
October 2016: PLoS Genetics
U M Hallbauer, G Joubert, Y Goosen
BACKGROUND: Pertussis vaccination in the 1950s was associated with a decrease in the incidence of pertussis. A resurgence of pertussis has been documented, mainly in well-resourced countries since the 1990s. The burden of pertussis has not been well described in South Africa (SA). Epidemiological data are important for rational implementation of vaccination strategies. OBJECTIVE: To describe the morbidity and mortality of children with pertussis admitted to public sector hospitals in Bloemfontein, SA...
September 8, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
Artur F Izmaylov, Jiaru Li, Loic Joubert-Doriol
Electronic wave-functions in the adiabatic representation acquire nontrivial geometric phases (GPs) when corresponding potential energy surfaces undergo conical intersection (CI). These GPs have profound effects on the nuclear quantum dynamics and cannot be eliminated in the adiabatic representation without changing the physics of the system. To define dynamical effects arising from the GP presence the nuclear quantum dynamics of the CI containing system is compared with that of the system with artificially removed GP...
October 10, 2016: Journal of Chemical Theory and Computation
Shuhei Nakamura, Junya Hasegawa, Tamotsu Yoshimori
Macroautophagy (autophagy) is a multistep intracellular degradation system. Autophagosomes form, mature, and ultimately fuse with lysosomes, where their sequestered cargo molecules are digested. In contrast to autophagosome formation, our knowledge of autophagosome-lysosome fusion is limited. In a recent study, we identified a novel regulator of autophagy, INPP5E (inositol polyphosphate-5-phosphatase E), which is essential for autophagosome-lysosome fusion. INPP5E primarily functions in neuronal cells, and knockdown of the corresponding gene causes accumulation of autophagosomes by impairing fusion with lysosomes...
October 7, 2016: Autophagy
Tandeka Magcwebeba, Pieter Swart, Sonja Swanevelder, Elizabeth Joubert, Wentzel Gelderblom
Ultraviolet B (UVB) radiation is one of the major predisposing risk factors of skin cancer. The anticancer and photoprotective effects of unoxidized rooibos (Aspalathus linearis) and honeybush (Cyclopia) herbal teas, containing high levels of dihydrochalones and xanthones, respectively, have been demonstrated in skin cancer models in vivo. In the current study, the anti-inflammatory effects of methanol and aqueous extracts of these herbal teas were investigated in a UVB/HaCaT keratinocyte model with intracellular interleukin-1α (icIL-1α) accumulation as a biomarker...
October 2, 2016: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
F Balazard, S Le Fur, S Valtat, A J Valleron, P Bougnères, Dominique Thevenieau, Corinne Fourmy Chatel, Rachel Desailloud, Hélène Bony-Trifunovic, Pierre-Henri Ducluzeau, Régis Coutant, Sophie Caudrelier, Armelle Pambou, Emmanuelle Dubosclard, Florence Joubert, Philippe Jan, Estelle Marcoux, Anne-Marie Bertrand, Brigitte Mignot, Alfred Penformis, Chantal Stuckens, Régis Piquemal, Pascal Barat, Vincent Rigalleau, Chantal Stheneur, Sylviane Fournier, Véronique Kerlan, Chantal Metz, Anne Fargeot-Espaliat, Yves Reznic, Frédérique Olivier, Iva Gueorguieva, Arnaud Monier, Catherine Radet, Vincent Gajdos, Daniel Terral, Christine Vervel, Djamel Bendifallah, Candace Ben Signor, Daniel Dervaux, Abdelkader Benmahammed, Guy-André Loeuille, Françoise Popelard, Agnès Guillou, Pierre-Yves Benhamou, Jamil Khoury, Jean-Pierre Brossier, Joachim Bassil, Sylvaine Clavel, Bernard Le Luyer, Pierre Bougnères, Françoise Labay, Isabelle Guemas, Jacques Weill, Jean-Pierre Cappoen, Sylvie Nadalon, Anne Lienhardt-Roussie, Anne Paoli, Claudie Kerouedan, Edwige Yollin, Marc Nicolino, Gilbert Simonin, Jacques Cohen, Catherine Atlan, Agnès Tamboura, Hervé Dubourg, Marie-Laure Pignol, Philippe Talon, Stéphanie Jellimann, Lucy Chaillous, Sabine Baron, Marie-Noëlle Bortoluzzi, Elisabeth Baechler, Randa Salet, Ariane Zelinsky-Gurung, Fabienne Dallavale, Etienne Larger, Marie Laloi-Michelin, Jean-François Gautier, Bénédicte Guérin, Laure Oilleau, Laetitia Pantalone, Céline Lukas, Isabelle Guilhem, Marc De Kerdanet, Marie-Claire Wielickzo, Mélanie Priou-Guesdon, Odile Richard, François Kurtz, Norbert Laisney, Déborah Ancelle, Guilhem Parlier, Catherine Boniface, Dominique Paris Bockel, Denis Dufillot, Berthe Razafimahefa, Pierre Gourdy, Pierre Lecomte, Myriam Pepin-Donat, Marie-Emmanuelle Combes-Moukhovsky, Brigitte Zymmermann, Marina Raoulx, Anne Gourdin Et Catherine Dumont
BACKGROUND: The incidence of childhood type 1 diabetes (T1D) incidence is rising in many countries, supposedly because of changing environmental factors, which are yet largely unknown. The purpose of the study was to unravel environmental markers associated with T1D. METHODS: Cases were children with T1D from the French Isis-Diab cohort. Controls were schoolmates or friends of the patients. Parents were asked to fill a 845-item questionnaire investigating the child's environment before diagnosis...
September 29, 2016: BMC Public Health
Laura E Mariani, Maarten F Bijlsma, Anna I Ivanova, Sarah K Suciu, Richard A Kahn, Tamara Caspary
The regulatory GTPase Arl13b localizes to primary cilia, where it regulates Sonic hedgehog (Shh) signaling. Missense mutations in ARL13B can cause the ciliopathy Joubert syndrome, while the mouse null allele is embryonic lethal. We used mouse embryonic fibroblasts as a system to determine the effects of Arl13b mutations on Shh signaling. We tested a total of seven different mutants, three JS-causing variants, two point mutants predicted to alter guanine nucleotide handling, one that disrupts cilia localization, and one that prevents palmitoylation and thus membrane binding, in assays of transcriptional and non-transcriptional Shh signaling...
September 28, 2016: Molecular Biology of the Cell
Heron Andrade, Philippe Joubert, Arthur Vieira, Paula Ugalde Figueroa
Pulmonary carcinoid tumours are well-differentiated neuroendocrine tumours with indolent behaviour; complete resection offers long-term survival. When centrally located, these tumours can be treated with lung-sparing procedures. We present a case of a centrally located typical carcinoid tumour treated with a minimally invasive, right upper lobe sleeve lobectomy using a single port.
September 27, 2016: Interactive Cardiovascular and Thoracic Surgery
Tandeka Unathi Magcwebeba, Sylvia Riedel, Sonja Swanevelder, Pieter Swart, Dalene De Beer, Elizabeth Joubert, Wentzel Christoffel Andreas Gelderblom
OBJECTIVES: The relationship between polyphenol constituents, antioxidant properties of aqueous and methanol extracts of green tea (Camellia sinensis), the herbal teas, rooibos (Aspalathus linearis) and honeybush (Cyclopia spp.), against skin cell viability was investigated in vitro. METHODS: The effect of extracts, characterised in terms of polyphenol content and antioxidant properties, on cell viability of premalignant, normal and malignant skin cells was determined...
September 27, 2016: Journal of Pharmacy and Pharmacology
Kyla D Joubert, Charles D Mabry, Kyle J Kalkwarf, Richard D Betzold, Horace J Spencer, Kara M Spinks, Austin Porter, Saleema Karim, Ronald D Robertson, Michael J Sutherland, Robert T Maxson
Major trunk trauma is common and costly, but comparisons of costs between trauma centers (TCs) are rare. Understanding cost is essential to improve quality, manage trauma service lines, and to facilitate institutional commitment for trauma. We have used results of a statewide trauma financial survey of Levels I to IV TC to develop a useful grouping method for costs and clinical characteristics of major trunk trauma. The trauma financial survey collected billing and clinical data on 75 per cent of the state trauma registry patients for fiscal year 2012...
September 2016: American Surgeon
Sonia Marcone, Jean-François Gagnon, Sarah Lecomte, Hélène Imbeault, Frédérique Limoges, Ronald B Postuma, Josie-Anne Bertrand, Sven Joubert, Isabelle Rouleau
OBJECTIVE: Prospective memory (PM) is a cognitive function defined as the ability to perform an intention at an appropriate moment in the future. In the aging population, PM is essential for maintaining independent daily living. Introduced as a simple and quick way to assess PM in clinical settings, the envelope task has to date received very limited empirical and practical interest. METHODS: The present study investigated the task's clinical utility in detecting PM impairment in a sample composed of 49 healthy older adults (OA), 41 patients with Alzheimer's disease, and 64 individuals with amnestic and nonamnestic mild cognitive impairment (MCI) of heterogeneous etiology: 17 of idiopathic nature, 20 presenting an idiopathic rapid-eye movement sleep behaviour disorder, and 27 patients diagnosed with idiopathic Parkinson's disease...
September 26, 2016: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
Brett K Hayes, John C Dunn, Amy Joubert, Robert Taylor
This experiment examined single-process and dual-process accounts of the development of visual recognition memory. The participants, 6-7-year-olds, 9-10-year-olds and adults, were presented with a list of pictures which they encoded under shallow or deep conditions. They then made recognition and confidence judgments about a list containing old and new items. We replicated the main trends reported by Ghetti and Angelini () in that recognition hit rates increased from 6 to 9 years of age, with larger age changes following deep than shallow encoding...
September 22, 2016: Developmental Science
Haifa A Bin Dahman, Abdul-Hakeem M Bin Mubaireek, Zain H Alhaddad
Joubert syndrome is a rare autosomal recessive disorder. It is characterized by congenital ataxia, hypotonia, developmental delay and at least one of the following features: neonatal respiratory disturbances and abnormal eye movements; including nystagmus and oculomotor apraxia. Molar tooth appearance is an essential finding for the diagnosis of Joubert syndrome. We report a five-days-old newborn with mild hypotonia, abnormal pattern of respiration, abnormal eye movements and molar tooth sign on brain CT scan...
2016: Sudan J Paediatr
Rifqah A Roomaney, Victoria Pillay-van Wyk, Oluwatoyin F Awotiwon, Ali Dhansay, Pam Groenewald, Jané D Joubert, Mweete D Nglazi, Edward Nicol, Debbie Bradshaw
INTRODUCTION: Lower respiratory infections (LRIs) and pneumonia are among the leading causes of death worldwide, especially in children aged under 5 years, and these patterns are reflected in the South African population. Local epidemiological data for LRIs and pneumonia are required to inform the Second National Burden of Disease Study underway in South Africa. The aim of this systematic review is to identify published studies reporting the prevalence, incidence, case fatality, duration or severity of LRI and pneumonia in adults and children in South Africa...
September 15, 2016: BMJ Open
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