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Joubert

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https://www.readbyqxmd.com/read/28228833/disruption-of-the-photoreceptor-inner-segment-outer-segment-junction-in-a-6-year-old-girl-with-joubert-syndrome
#1
Shimpei Baba, Eri Takeshita, Hiroko Yamazaki, Mikako Tarashima, Masayuki Sasaki
Joubert syndrome (JS) is a spectrum of genetic disorders characterised by cerebellar and brainstem malformation called "molar tooth sign", resulting in hypotonia, developmental delay, and intellectual disability. Here we describe a young female JS patient with "salt-and-pepper" fundus and inner segment-outer segment junction (IS/OS line) discontinuity, with a lack of external limiting membrane. Ocular coherence tomography (OCT) detected blurred external retinal layers in the macula centre. Although JS patients often have retinal degeneration with varying severity, few investigators have utilised OCT in their investigations...
February 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28220744/burden-genotype-and-phenotype-profiles-of-adult-patients-with-sickle-cell-disease-in-cape-town-south-africa
#2
G D Pule, K Mnica, M Joubert, S Mowla, N Novitsky, A Wonkam
BACKGROUND: An exponential increase in the number of sickle cell disease (SCD) patients in paediatric services in Cape Town, South Africa, has been reported. The trend in adult/adolescent services has not been investigated. OBJECTIVES: To evaluate epidemiological trends of SCD and the profile of patients affected by SCD attending the Haematology Clinic at Groote Schuur Hospital (GSH), Cape Town. METHODS: (i) A retrospective review of the number of SCD patients over the past 20 years; (ii) a cross-sectional analysis of clinical and haematological characteristics of SCD patients; and (iii) molecular analysis of the haemoglobin S mutation, the haplotype in the β-globin-like genes cluster, the 3...
January 30, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28220730/the-prevalence-of-skin-scars-in-patients-previously-given-intramuscular-diclofenac-injections-attending-the-pain-clinic-at-universitas-academic-hospital-bloemfontein-south-africa
#3
D Tarloff, G Lamacraft, G Joubert
Intramuscular (IM) diclofenac rarely causes scarring (reported incidence <0.05%). Some patients attending the Pain Clinic at Universitas Academic Hospital, Bloemfontein, South Africa, presented with scars that had developed after IM diclofenac injections. We investigated the prevalence of scars in patients at the clinic and how the injections had been obtained. Patients attending the clinic over a period of 9 months who said they had received diclofenac (N=131) were included. Information was collected using a questionnaire and physical examination...
January 30, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28220259/mutations-in-kiaa0753-cause-joubert-syndrome-associated-with-growth-hormone-deficiency
#4
Joshi Stephen, Thierry Vilboux, Luhe Mian, Chulaluck Kuptanon, Courtney M Sinclair, Deniz Yildirimli, Dawn M Maynard, Joy Bryant, Roxanne Fischer, Meghana Vemulapalli, James C Mullikin, Marjan Huizing, William A Gahl, May Christine V Malicdan, Meral Gunay-Aygun
Joubert syndrome and related disorders (JSRD) are a heterogeneous group of ciliopathies defined based on the mid-hindbrain abnormalities that result in the characteristic "molar tooth sign" on brain imaging. The core clinical findings of JSRD are hypotonia, developmental delay, abnormal eye movements and breathing abnormalities. To date, more than 30 JSRD genes that encode proteins important for structure and/or function of cilia have been identified. Here, we present 2 siblings with Joubert syndrome associated with growth hormone deficiency...
February 20, 2017: Human Genetics
https://www.readbyqxmd.com/read/28216414/barriers-to-physical-activity-in-coronary-artery-disease-patients-development-and-validation-of-a-new-scale
#5
C Joussain, J Joubert, D Laroche, B D'Antono, M Juneau, V Gremeaux
OBJECTIVE: To develop and validate a self-report questionnaire to measure barriers to regular physical activity (PA) in patients with stable coronary artery disease (CAD). METHODS: Phase 1: 17 patients completed a semi-structured interview. After grouping and reformulating the reported barriers, their pertinence was reevaluated by the patients. Then, a decision algorithm was used to select items. A principal component analysis was performed to determine content validity...
February 16, 2017: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/28214596/early-non-response-to-certolizumab-pegol-in-rheumatoid-arthritis-predicts-treatment-failure-at-one-year-data-from-a-randomised-phase-iii-clinical-trial
#6
Francis Berenbaum, Thao Pham, Pascal Claudepierre, Thibault de Chalus, Jean-Michel Joubert, Carine Saadoun, Lionel Riou França, Bruno Fautrel
OBJECTIVES: To compare different early clinical criteria of non-response determined at three months as predictors of clinical failure at one year in patients with rheumatoid arthritis starting therapy with certolizumab pegol. METHODS: Data were derived from a randomised Phase III clinical trial in patients with rheumatoid arthritis who failed to respond to methotrexate monotherapy. Patients included in this post-hoc analysis were treated with certolizumab pegol (400mg qd reduced to 200mg qd after one month) and with methotrexate...
February 15, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28207036/lower-lateral-cartilages-an-anatomic-and-morphological-study-in-noses-of-black-southern-africans
#7
Cameron N D McIntosh, F Carl van Wyk, Gina Joubert, Riaz Y Seedat
No abstract text is available yet for this article.
March 1, 2017: Aesthetic Surgery Journal
https://www.readbyqxmd.com/read/28178157/the-prognostic-influence-of-the-proliferative-discordance-in-metastatic-pancreatic-neuroendocrine-carcinoma-revealed-by-peptide-receptor-radionuclide-therapy-case-report-and-review-of-literature
#8
Nathanaëlle Montanier, Juliette Joubert-Zakeyh, Caroline Pétorin, Pierre François Montoriol, Salwan Maqdasy, Antony Kelly
RATIONALE: Pancreatic neuroendocrine tumors (pNET) are rare slowly growing tumors with a high metastatic potential. Peptide receptor radionuclide therapy (PRRT) with radiolabeled analogues has been developed as a new tool for the management of metastatic well-differentiated (grade 1 and 2) neuroendocrine tumors expressing somatostatin receptor (SSTR2). Chemotherapy is the mainstay in the management of grade 3 (G3) unresectable pancreatic neuroendocrine carcinoma (pNEC). To date, no study has evaluated the efficacy of PRRT in such tumors...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28173652/-clinical-and-genetic-analysis-of-a-family-with-joubert-syndrome-type-10-caused-by-ofd1-gene-mutation
#9
C Meng, K H Zhang, J Ma, X Gao, K Yu, H Y Zhang, Y Wang, Z X Zhang, W G Li, Y Liu, Z T Gai
Objective: To investigate the genetic cause for a family with multiorgan dysplasia and "molar tooth sign" on MRI image. Method: The patient, a 3 months and 21 days old boy, was clinically examined and the medical history of his family was collected. Next generation sequencing was performed to analyze his clinical and genetic causes. Result: Clinical manifestation of the child displayed multiorgan dysplasia, such as six finger deformity, short limbs, coloboma of optic disc and choroid, situs inversus.Cranial MRI showed "molar tooth sign" ...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28172980/prenylated-retinal-ciliopathy-protein-rpgr-interacts-with-pde6%C3%AE-and-regulates-ciliary-localization-of-joubert-syndrome-associated-protein-inpp5e
#10
Kollu N Rao, Wei Zhang, Linjing Li, Manisha Anand, Hemant Khanna
No abstract text is available yet for this article.
October 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28166213/genome-wide-association-analyses-for-lung-function-and-chronic-obstructive-pulmonary-disease-identify-new-loci-and-potential-druggable-targets
#11
Louise V Wain, Nick Shrine, María Soler Artigas, A Mesut Erzurumluoglu, Boris Noyvert, Lara Bossini-Castillo, Ma'en Obeidat, Amanda P Henry, Michael A Portelli, Robert J Hall, Charlotte K Billington, Tracy L Rimington, Anthony G Fenech, Catherine John, Tineka Blake, Victoria E Jackson, Richard J Allen, Bram P Prins, Archie Campbell, David J Porteous, Marjo-Riitta Jarvelin, Matthias Wielscher, Alan L James, Jennie Hui, Nicholas J Wareham, Jing Hua Zhao, James F Wilson, Peter K Joshi, Beate Stubbe, Rajesh Rawal, Holger Schulz, Medea Imboden, Nicole M Probst-Hensch, Stefan Karrasch, Christian Gieger, Ian J Deary, Sarah E Harris, Jonathan Marten, Igor Rudan, Stefan Enroth, Ulf Gyllensten, Shona M Kerr, Ozren Polasek, Mika Kähönen, Ida Surakka, Veronique Vitart, Caroline Hayward, Terho Lehtimäki, Olli T Raitakari, David M Evans, A John Henderson, Craig E Pennell, Carol A Wang, Peter D Sly, Emily S Wan, Robert Busch, Brian D Hobbs, Augusto A Litonjua, David W Sparrow, Amund Gulsvik, Per S Bakke, James D Crapo, Terri H Beaty, Nadia N Hansel, Rasika A Mathias, Ingo Ruczinski, Kathleen C Barnes, Yohan Bossé, Philippe Joubert, Maarten van den Berge, Corry-Anke Brandsma, Peter D Paré, Don D Sin, David C Nickle, Ke Hao, Omri Gottesman, Frederick E Dewey, Shannon E Bruse, David J Carey, H Lester Kirchner, Stefan Jonsson, Gudmar Thorleifsson, Ingileif Jonsdottir, Thorarinn Gislason, Kari Stefansson, Claudia Schurmann, Girish Nadkarni, Erwin P Bottinger, Ruth J F Loos, Robin G Walters, Zhengming Chen, Iona Y Millwood, Julien Vaucher, Om P Kurmi, Liming Li, Anna L Hansell, Chris Brightling, Eleftheria Zeggini, Michael H Cho, Edwin K Silverman, Ian Sayers, Gosia Trynka, Andrew P Morris, David P Strachan, Ian P Hall, Martin D Tobin
Chronic obstructive pulmonary disease (COPD) is characterized by reduced lung function and is the third leading cause of death globally. Through genome-wide association discovery in 48,943 individuals, selected from extremes of the lung function distribution in UK Biobank, and follow-up in 95,375 individuals, we increased the yield of independent signals for lung function from 54 to 97. A genetic risk score was associated with COPD susceptibility (odds ratio per 1 s.d. of the risk score (∼6 alleles) (95% confidence interval) = 1...
February 6, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28154314/effectiveness-of-x-ray-computed-microtomography-to-determine-structureproperty-relationships-of-gutta-percha
#12
Liudi Zhang, Christopher Joubert, George Bruder, Kai Yang, Alexa Aseel-Fine, Keith Jones, Miriam Rafailovich
We have shown that Computed Microtomography (CMT) is able to map the internal distribution of the filler particles in ProTaper(TM), Lexicon(TM), and GuttaCore(TM) materials, and explain the differences in their tensile and ductility properties, prior to mechanical manipulation. Working of uncrosslinked ProTaper™ and Lexicon(TM) samples resulted in a five-fold increase in ductility and the tensile elongation at break. CMT mapping of the internal structure showed that large, periodic, striations formed across the interior of the sample corresponding to the formation of regions with low filler particle density...
February 1, 2017: Dental Materials Journal
https://www.readbyqxmd.com/read/28151755/renal-cystic-disease-and-associated-ciliopathies
#13
Karl O Kagan, Andreas Dufke, Ulrich Gembruch
PURPOSE OF REVIEW: To review disorders that are associated with renal cystic disease during prenatal life and to highlight the strong association between renal cystic disease and ciliopathies. RECENT FINDINGS: There are numerous causative genes for ciliopathies that can present with cystic kidney disease. In the group of single gene ciliopathies, autosomal dominant polycystic kidney disease is by far the most prevalent one. Other examples are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet-Biedl syndrome, Meckel-Gruber syndrome, Joubert syndrome and related disorders as well as X-linked orofaciodigital syndrome type 1, respectively...
February 1, 2017: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28144213/abdominal-approaches-to-rectal-prolapse
#14
REVIEW
Kyla Joubert, Jonathan A Laryea
Rectal prolapse is a debilitating condition with a complex etiology. Symptoms are most commonly prolapse of the rectum and pain with bowel movements or straining, with worsening fecal incontinence over time due to progressive stretching of the anal sphincters. Physical findings are fairly consistent from patient to patient-most notably diastasis of the levator ani muscles, deep pouch of Douglas, redundant sigmoid colon, a mobile mesorectum, and occasionally a solitary rectal ulcer. Evaluation includes a physical exam or imaging demonstrating the prolapse, and evaluating for other causes of pelvic floor dysfunction...
February 2017: Clinics in Colon and Rectal Surgery
https://www.readbyqxmd.com/read/28127172/orocraniofacial-findings-of-a-pediatric-patient-with-joubert-syndrome
#15
Mridula Goswami, Anju S Rajwar, Mahesh Verma
: Joubert syndrome (JS) is a very rare autosomal recessive disorder, involving agenesis or dysgenesis of cerebellar vermis and brain stem. The neurological features of JS include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. These may be associated with multiorgan involvement, mainly retinal dystrophy, nephronophthisis, hepatic fibrosis, and polydactyly. An obligatory hallmark feature associated with JS is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging...
October 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28125082/molecular-genetic-findings-and-clinical-correlations-in-100-patients-with-joubert-syndrome-and-related-disorders-prospectively-evaluated-at-a-single-center
#16
Thierry Vilboux, Daniel A Doherty, Ian A Glass, Melissa A Parisi, Ian G Phelps, Andrew R Cullinane, Wadih Zein, Brian P Brooks, Theo Heller, Ariane Soldatos, Neal L Oden, Deniz Yildirimli, Meghana Vemulapalli, James C Mullikin, Nisc Comparative Sequencing Program, May Christine V Malicdan, William A Gahl, Meral Gunay-Aygun
PURPOSE: Joubert syndrome (JS) is a genetically and clinically heterogeneous ciliopathy characterized by distinct cerebellar and brainstem malformations resulting in the diagnostic "molar tooth sign" on brain imaging. To date, more than 30 JS genes have been identified, but these do not account for all patients. METHODS: In our cohort of 100 patients with JS from 86 families, we prospectively performed extensive clinical evaluation and provided molecular diagnosis using a targeted 27-gene Molecular Inversion Probes panel followed by whole-exome sequencing (WES)...
January 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28118669/the-ciliopathy-gene-ahi1-is-required-for-zebrafish-cone-photoreceptor-outer-segment-morphogenesis-and-survival
#17
Emma M Lessieur, Joseph Fogerty, Robert J Gaivin, Ping Song, Brian D Perkins
Purpose: Joubert syndrome (JBTS) is an autosomal recessive ciliopathy with considerable phenotypic variability. In addition to central nervous system abnormalities, a subset of JBTS patients exhibit retinal dystrophy and/or kidney disease. Mutations in the AHI1 gene are causative for approximately 10% of all JBTS cases. The purpose of this study was to generate ahi1 mutant alleles in zebrafish and to characterize the retinal phenotypes. Methods: Zebrafish ahi1 mutants were generated using transcription activator-like effector nucleases (TALENs)...
January 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28118045/impact-of-a-paper-based-dynamic-insulin-infusion-protocol-on-glycemic-variability-time-in-target-and-hypoglycemic-risk-a-stepped-wedge-trial-in-medical-intensive-care-unit-patients
#18
Antoine Clergeau, Jean-Jacques Parienti, Yves Reznik, Deborah Clergeau, Amelie Seguin, Xavier Valette, Damien du Cheyron, Michael Joubert
BACKGROUND: Stress-induced hyperglycemia is a common feature of intensive care unit (ICU) patients. Besides mean blood glucose (BG) level, glucose variability and hypoglycemia have been highlighted as independent predictors of ICU and hospital mortality. Recent ICU recommendations suggest using insulin infusion protocols that can minimize glucose variability and hypoglycemic risk. Our aim was to assess the efficacy, safety, and acceptance by nurses of a paper-based simple dynamic insulin protocol compared with those by nurses of a paper-based static protocol...
February 2017: Diabetes Technology & Therapeutics
https://www.readbyqxmd.com/read/28102635/characterization-of-an-emirati-tmem138-mutation-leading-to-joubert-syndrome
#19
Sami Bizzari, Abdul Rezzak Hamzeh, Pratibha Nair, Madiha Mohamed, Fatma Bastaki
No abstract text is available yet for this article.
January 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28098811/aspalathin-protects-the-heart-against-hyperglycemia-induced-oxidative-damage-by-up-regulating-nrf2-expression
#20
Phiwayinkosi V Dludla, Christo J F Muller, Elizabeth Joubert, Johan Louw, M Faadiel Essop, Kwazi B Gabuza, Samira Ghoor, Barbara Huisamen, Rabia Johnson
Aspalathin (ASP) can protect H9c2 cardiomyocytes against high glucose (HG)-induced shifts in myocardial substrate preference, oxidative stress, and apoptosis. The protective mechanism of ASP remains unknown. However, as one of possible, it is well known that phytochemical flavonoids reduce oxidative stress via nuclear factor (erythroid-derived 2)-like 2 (Nrf2) activation resulting in up-regulation of antioxidant genes and enzymes. Therefore, we hypothesized that ASP protects the myocardium against HG- and hyperglycemia-induced oxidative damage by up-regulating Nrf2 expression in H9c2 cardiomyocytes and diabetic (db/db) mice, respectively...
January 14, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
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