keyword
MENU ▼
Read by QxMD icon Read
search

Recess

keyword
https://www.readbyqxmd.com/read/28735130/bony-lateral-recess-stenosis-and-other-radiographic-predictors-of-failed-indirect-decompression-via-extreme-lateral-interbody-fusion-xlif-multi-institutional-analysis-of-101-consecutive-spinal-levels
#1
Timothy Y Wang, Gautam Nayar, Christopher Brown, Luiz Pimenta, Isaac O Karikari, Robert E Isaacs
No abstract text is available yet for this article.
July 19, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28734273/association-between-thrombophilic-genes-polymorphisms-and-recurrent-pregnancy-loss-susceptibility-in-the-iranian-population-a-systematic-review-and-meta-analysis
#2
Mahdieh Kamali, Sedigheh Hantoushzadeh, Sedigheh Borna, Hossein Neamatzadeh, Mahta Mazaheri, Mahmood Noori-Shadkam, Fatemeh Haghighi
Background: Studies have indicated that thrombophilic genes polymorphisms are associated with recurrent pregnancy loss (RPL) in the Iranian population. However, the results from these studies remained inconsistent and inconclusive. The aim of this systematic review and meta-analysis was to evaluate the precise association between thrombophilic genes polymorphisms (MTHFR C677T, MTHFR A1298C, Prothrombin G20210A, FVL G1691A, and PAI-1 4G/5G) and RPL risk in the Iranian population. Method: Electronic databases of PubMed, Web of Science, Google Scholar, and ISC were searched for eligible articles published up to April 1, 2017...
July 23, 2017: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/28733970/new-genes-causing-hereditary-parkinson-s-disease-or-parkinsonism
#3
REVIEW
Andreas Puschmann
PURPOSE OF REVIEW: This article reviews was to review genes where putative or confirmed pathogenic mutations causing Parkinson's disease or Parkinsonism have been identified since 2012, and summarizes the clinical and pathological picture of the associated disease subtypes. RECENT FINDINGS: Newly reported genes for dominant Parkinson's disease are DNAJC13, CHCHD2, and TMEM230. However, the evidence for a disease-causing role is not conclusive, and further genetic and functional studies are warranted...
September 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28733637/c26-ceramide-as-highly-sensitive-biomarker-for-the-diagnosis-of-farber-disease
#4
Claudia Cozma, Marius-Ionuț Iurașcu, Sabrina Eichler, Marina Hovakimyan, Oliver Brandau, Susanne Zielke, Tobias Böttcher, Anne-Katrin Giese, Jan Lukas, Arndt Rolfs
Farber disease (FD) is a rare autosomal recessive disease caused by mutations in the acid ceramidase gene (ASAH1). Low ceramidase activity results in the accumulation of fatty substances, mainly ceramides. Hallmark symptoms at clinical level are periarticular nodules, lipogranulomas, swollen and painful joints and a hoarse voice. FD phenotypes are heterogeneous varying from mild to very severe cases, with the patients not surviving past their first year of life. The diagnostic aspects of FD are poorly developed due to the rarity of the disease...
July 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28731162/a-homozygous-myo7a-mutation-associated-to-usher-syndrome-and-unilateral-auditory-neuropathy-spectrum-disorder
#5
Hong Xia, Pengzhi Hu, Lamei Yuan, Wei Xiong, Hongbo Xu, Junhui Yi, Zhijian Yang, Xiong Deng, Yi Guo, Hao Deng
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive visual loss and night blindness due to retinitis pigmentosa (RP), with or without vestibular dysfunction. The purpose of this study was to detect the causative gene in a consanguineous Chinese family with USH. A c.3696_3706del (p.R1232Sfs*72) variant in the myosin VIIa gene (MYO7A) was identified in the homozygous state by exome sequencing. The co‑segregation of the MYO7A c.3696_3706del variant with the phenotype of deafness and progressive visual loss in the USH family was confirmed by Sanger sequencing...
July 21, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28730411/sugary-endosperm-is-modulated-by-starch-branching-enzyme-iia-in-rice-oryza-sativa-l
#6
Yunjoo Lee, Min-Seon Choi, Gileung Lee, Su Jang, Mi-Ra Yoon, Backki Kim, Rihua Piao, Mi-Ok Woo, Joong Hyoun Chin, Hee-Jong Koh
BACKGROUND: Starch biosynthesis is one of the most important pathways that determine both grain quality and yield in rice (Oryza sativa L.). Sugary endosperm, sugary-1 (sug-1), is a mutant trait for starch biosynthesis. Rice plants carrying sug-1 produce grains that accumulate water-soluble carbohydrates instead of starch, even after maturity. Although this trait enhances the diversity of grain quality, sugary endosperm rice has hardly been commercialized due to the severely wrinkled grains and subsequent problems in milling...
December 2017: Rice
https://www.readbyqxmd.com/read/28730116/factors-affecting-residual-exotropia-after-two-muscle-surgery-for-intermittent-exotropia
#7
Shailja Tibrewal, Nishtha Singh, Marazul Islam Bhuiyan, Suma Ganesh
AIM: To study the factors affecting residual exotropia (>10 PD) at 4-6wk postoperative visit following two rectus muscle surgery for intermittent exotropia [bilateral lateral rectus (LR) recession or unilateral recess resect procedure]. METHODS: A retrospective chart review of patients with intermittent exotropia ≤50 PD who underwent two rectus muscle surgery in between Jan. 2011 to Dec. 2013 was performed. Possible factors were compared between patients with residual exotropia (>10 PD) and successful outcome (within 10 PD of orthotropia) at the 4-6wk postoperative visit...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28729967/tesevatinib-ameliorates-progression-of-polycystic-kidney-disease-in-rodent-models-of-autosomal-recessive-polycystic-kidney-disease
#8
William E Sweeney, Philip Frost, Ellis D Avner
AIM: To investigate the therapeutic potential of tesevatinib (TSV), a unique multi-kinase inhibitor currently in Phase II clinical trials for autosomal dominant polycystic kidney disease (ADPKD), in well-defined rodent models of autosomal recessive polycystic kidney disease (ARPKD). METHODS: We administered TSV in daily doses of 7.5 and 15 mg/kg per day by I.P. to the well characterized bpk model of polycystic kidney disease starting at postnatal day (PN) 4 through PN21 to assess efficacy and toxicity in neonatal mice during postnatal development and still undergoing renal maturation...
July 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/28729543/evaluation-of-atm-heterozygous-mutations-underlying-individual-differences-in-radiosensitivity-using-genome-editing-in-human-cultured-cells
#9
Ekaterina Royba, Tatsuo Miyamoto, Silvia Natsuko Akutsu, Kosuke Hosoba, Hiroshi Tauchi, Yoshiki Kudo, Satoshi Tashiro, Takashi Yamamoto, Shinya Matsuura
Ionizing radiation (IR) induces DNA double-strand breaks (DSBs), which are an initial step towards chromosomal aberrations and cell death. It has been suggested that there are individual differences in radiosensitivity within human populations, and that the variations in DNA repair genes might determine this heterogeneity. However, it is difficult to quantify the effect of genetic variants on the individual differences in radiosensitivity, since confounding factors such as smoking and the diverse genetic backgrounds within human populations affect radiosensitivity...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28729060/correlation-of-joint-volume-and-passive-range-of-motion-with-capsulo-synovial-thickness-measured-by-contrast-enhanced-mri-in-adhesive-capsulitis
#10
Yong-Taek Lee, Kwang-Soo Chun, Kyung Jae Yoon, Hee-Jin Park, So-Yeon Lee, Eugene Kim, Young Sook Park, Kyoung-Ho Seo
BACKGROUND: No study has investigated the relationship between the findings of contrast-enhanced magnetic resonance imaging (CE-MRI) and joint volume of shoulder, which has been considered the standard reference for diagnosis of adhesive capsulitis (AC). OBJECTIVE: To investigate the relationship among the capsule-synovial thickness measured by CE-MRI, joint volume and passive range of motion (ROM) in patient with AC. DESIGN: Retrospective study SETTING: Institutional practice PATIENTS: Medical record of one-hundred-three patients (46 male, 57 female), who were treated with sono-guided intraaticular injection with diagnosis of AC and underwent CE-MRI to rule out concomitant other shoulder disease, were retrospectively reviewed...
July 17, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28729032/a-novel-model-of-autosomal-recessive-polycystic-kidney-questions-the-role-of-the-fibrocystin-c-terminus-in-disease-mechanism
#11
Patricia Outeda, Luis Menezes, Erum A Hartung, Stacey Bridges, Fang Zhou, Xianjun Zhu, Hangxue Xu, Qiong Huang, Qin Yao, Feng Qian, Gregory G Germino, Terry Watnick
Autosomal recessive polycystic kidney disease (OMIM 263200) is a serious condition of the kidney and liver caused by mutations in a single gene, PKHD1. This gene encodes fibrocystin/polyductin (FPC, PD1), a large protein shown by in vitro studies to undergo Notch-like processing. Its cytoplasmic tail, reported to include a ciliary targeting sequence, a nuclear localization signal, and a polycystin-2 binding domain, is thought to traffic to the nucleus after cleavage. We now report a novel mouse line with a triple HA-epitope "knocked-in" to the C-terminus along with lox P sites flanking exon 67, which encodes most of the C-terminus (Pkhd1(Flox67HA))...
July 17, 2017: Kidney International
https://www.readbyqxmd.com/read/28728956/ataluren-in-patients-with-nonsense-mutation-duchenne-muscular-dystrophy-act-dmd-a-multicentre-randomised-double-blind-placebo-controlled-phase-3-trial
#12
Craig M McDonald, Craig Campbell, Ricardo Erazo Torricelli, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Peter Heydemann, Anna Kaminska, Janbernd Kirschner, Francesco Muntoni, Andrés Nascimento Osorio, Ulrike Schara, Thomas Sejersen, Perry B Shieh, H Lee Sweeney, Haluk Topaloglu, Már Tulinius, Juan J Vilchez, Thomas Voit, Brenda Wong, Gary Elfring, Hans Kroger, Xiaohui Luo, Joseph McIntosh, Tuyen Ong, Peter Riebling, Marcio Souza, Robert J Spiegel, Stuart W Peltz, Eugenio Mercuri
BACKGROUND: Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of disease; therefore, mutation-specific therapies aimed at restoring dystrophin protein production are being explored. We aimed to assess the efficacy and safety of ataluren in ambulatory boys with nonsense mutation DMD. METHODS: We did this multicentre, randomised, double-blind, placebo-controlled, phase 3 trial at 54 sites in 18 countries located in North America, Europe, the Asia-Pacific region, and Latin America...
July 17, 2017: Lancet
https://www.readbyqxmd.com/read/28728906/surgical-management-of-strabismus-following-choroidal-melanoma-plaque-brachytherapy
#13
Shatha H Alfreihi, Stacy L Pineles, Tara A McCannel, Angelica M Prada, Federico G Velez
PURPOSE: To characterize intraoperative findings, surgical approach, and postoperative outcomes in patients undergoing strabismus surgery following plaque brachytherapy for ocular melanoma. METHODS: The records of all patients who underwent plaque brachytherapy for choroidal melanoma between May 2007 and June 2016 were reviewed retrospectively to identify those who subsequently required strabismus surgery. RESULTS: Of the 461 patients who underwent plaque brachytherapy during the study period, 13 (2...
July 17, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28728825/genetic-diseases-of-piezo1-and-piezo2-dysfunction
#14
S L Alper
Mutations in the genes encoding the mechanosensitive cation channels PIEZO1 and PIEZO2 are responsible for multiple hereditary human diseases. Loss-of-function mutations in the human PIEZO1 gene cause autosomal recessive congenital lymphatic dysplasia. Gain-of-function mutations in the human PIEZO1 gene cause the autosomal dominant hemolytic anemia, hereditary xerocytosis (also known as dehydrated stomatocytosis). Loss-of-function mutations in the human PIEZO2 gene cause an autosomal recessive syndrome of muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis...
2017: Current Topics in Membranes
https://www.readbyqxmd.com/read/28728290/-advances-in-research-of-divergence-insufficiency
#15
Y P Li, W Zhang
Divergence insufficiency is acquired esotropia at distance fixation with symptomatic uncrossed diplopia but fusion at near. It can be divided into two forms: primary isolated form and secondary form associated with neurologic abnormalities, also called divergence palsy. The clinical features of divergence insufficiency include small esotropia only at distance but orthotropia or small esophoria at near, comitant deviation at lateral gaze, reduced divergence fusion, full abduction and normal saccadic velocities in abduction...
July 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28728185/novel-presenting-phenotype-in-a-child-with-autosomal-dominant-best-s-vitelliform-macular-dystrophy
#16
Yasmine F Abdalla, Gabriella De Salvo, Ahmad Elsahn, James E Self
Best's macular dystrophy (BMD) usually manifests with visual failure in the first or second decade of life; however, there is a large variability in expressivity of the disease, and some patients have no manifestation other than a pathological electro-oculogram (EOG). Autosomal dominant Best's vitelliform macular dystrophy (AD-BVMD) has a very specific phenotype that varies with the stage of the disease. In recent years, the authors have seen description of another clinical entity known as autosomal recessive BMD...
July 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28727466/ceramic-veneers-with-gingiva-shaded-porcelain-to-replace-lost-interdental-papillae-a-case-report
#17
Stephen J Chu, Adam J Mieleszko
With implant-supported reconstructions, gingiva-shaded pink-colored restorative materials serve as an option for replacing both hard and soft tissues cosmetically. This article presents a case report describing restorative treatment for a patient who requested individual crowns and veneers after she had had multiple surgical interventions to replace a failing implant tooth No. 9. In addition to replacement of the implant prosthesis, this case involved restorative papillae reconstruction that was performed to treat interdental recession that had occurred after the surgeries...
July 2017: Compendium of Continuing Education in Dentistry
https://www.readbyqxmd.com/read/28727465/clinical-management-of-type-3-recession-defects-with-immediate-implant-and-provisional-restoration-therapy-a-case-report
#18
Dennis P Tarnow, Stephen J Chu
Type 3 extraction sockets present a unique challenge in that they possess gingival recession indicative of facial hard- and soft-tissue loss. When teeth present with prior disease requiring removal and implant replacement, the treatment strategy incorporates palatal implant positioning as well as proper restorative contour management to compensate for the recession defect, thereby allowing the gingival tissues to heal in the correct 3-dimensional position. This article describes the case of a patient with a nonrestorable maxillary right central incisor with internal resorption...
July 2017: Compendium of Continuing Education in Dentistry
https://www.readbyqxmd.com/read/28727464/cutting-edge-implant-rehabilitation-design-and-management-a-tapered-abutment-approach
#19
Xavier Rodríguez, Xavier Vela, Maribel Segalà
Soft-tissue recession around an implant rehabilitation over time has been considered a physiologic phenomenon. The divergent profile of the abutment and the abutment's dis/reconnections are the most critical predisposing and precipitating factors regarding such gingival recession. Recent publications have discussed how tapered and marginless abutments that allow no disconnections and increase soft-tissue thickness could prevent implant rehabilitations from experiencing gingival recession. The objective of this article is to demonstrate the biologic rationale of tissue behavior surrounding tapered abutments and their clinical application...
July 2017: Compendium of Continuing Education in Dentistry
https://www.readbyqxmd.com/read/28727461/risk-indicators-and-prevention-of-implant-soft-tissue-complications-interproximal-papillae-loss-and-midfacial-implant-mucosal-recessions
#20
James Mailoa, Richard J Miron, Hom-Lay Wang
Achieving a long-term esthetic implant restoration in the maxillary anterior area is sometimes unpredictable. This article reviews several risk indicators of implant mucosal recession and loss of interproximal papillae, and how to prevent these risks. Results obtained from the literature suggest that the following factors are strongly related to implant soft-tissue complications: buccally positioned implant placement, a thin gingival biotype, lack of an adequate amount of keratinized mucosa, implant placement after ridge augmentation procedures, an increased distance of tooth bone peak to the contact point, and an inadequate horizontal implant-tooth distance...
July 2017: Compendium of Continuing Education in Dentistry
keyword
keyword
15347
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"