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https://www.readbyqxmd.com/read/28072696/cerebroretinal-microangiopathy-with-calcifications-and-cysts-a-case-report
#1
Wenrui Xu, Jiuliang Zhao, Yicheng Zhu, Weihong Zhang
RATIONAL: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is believed to be an autosomal recessive genetic disease, with disorders in multisystem organs. Its characteristic neurological disorders manifested on neuroimaging are a triad of leukoencephalopathy, intracranial calcifications, and parenchymal cysts. In this paper, we report a CRMCC patient with multisystem involvement, focusing on the neuroimaging features, to get a better understanding of the rare disease and improve our diagnostic ability...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28056120/clinical-characterization-of-cngb1-related-autosomal-recessive-retinitis-pigmentosa
#2
Sarah Hull, Marcella Attanasio, Gavin Arno, Keren Carss, Anthony G Robson, Dorothy A Thompson, Vincent Plagnol, Michel Michaelides, Graham E Holder, Robert H Henderson, F Lucy Raymond, Anthony T Moore, Andrew R Webster
Importance: There are limited published data on the phenotype of retinitis pigmentosa (RP) related to CNGB1 variants. These data are needed both for prognostic counseling of patients and for understanding potential treatment windows. Objective: To describe the detailed clinical and molecular genetic findings in a series of patients with RP with likely pathogenic variants in CNGB1. Design, Setting, and Participants: In this case series, 10 patients from 9 families underwent full ophthalmologic examination...
January 5, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28056084/sbds-deficient-cells-have-an-altered-homeostatic-equilibrium-due-to-translational-inefficiency-which-explains-their-reduced-fitness-and-provides-a-logical-framework-for-intervention
#3
Piera Calamita, Annarita Miluzio, Arianna Russo, Elisa Pesce, Sara Ricciardi, Farhat Khanim, Cristina Cheroni, Roberta Alfieri, Marilena Mancino, Chiara Gorrini, Grazisa Rossetti, Ivana Peluso, Massimiliano Pagani, Diego L Medina, Johanna Rommens, Stefano Biffo
Ribosomopathies are a family of inherited disorders caused by mutations in genes necessary for ribosomal function. Shwachman-Diamond Bodian Syndrome (SDS) is an autosomal recessive disease caused, in most patients, by mutations of the SBDS gene. SBDS is a protein required for the maturation of 60S ribosomes. SDS patients present exocrine pancreatic insufficiency, neutropenia, chronic infections, and skeletal abnormalities. Later in life, patients are prone to myelodisplastic syndrome and acute myeloid leukemia (AML)...
January 5, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28051070/severe-neurodegenerative-disease-in-brothers-with-homozygous-mutation-in-polr1a
#4
Bülent Kara, Çiğdem Köroğlu, Karita Peltonen, Ruchama C Steinberg, Hülya Maraş Genç, Maarit Hölttä-Vuori, Ayşe Güven, Kristiina Kanerva, Tuğba Kotil, Seyhun Solakoğlu, You Zhou, Vesa M Olkkonen, Elina Ikonen, Marikki Laiho, Aslıhan Tolun
In two brothers born to consanguineous parents, we identified an unusual neurological disease that manifested with ataxia, psychomotor retardation, cerebellar and cerebral atrophy, and leukodystrophy. Via linkage analysis and exome sequencing, we identified homozygous c.2801C>T (p.(Ser934Leu)) in POLR1A (encoding RPA194, largest subunit of RNA polymerase I) and c.511C>T (p.(Arg171Trp)) in OSBPL11 (encoding oxysterol-binding protein-like protein 11). Although in silico analysis, histopathologic evidence and functional verification indicated that both variants were deleterious, segregation with the patient phenotype established that the POLR1A defect underlies the disease, as a clinically unaffected sister also was homozygous for the OSBPL11 variant...
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28050353/an-osteologic-study-of-cranial-opening-of-optic-canal-in-gujarat-region
#5
Binita Jigneshkumar Purohit, Praveen R Singh
INTRODUCTION: Optic canal is a bony canal situated in between the roots of lesser wings of sphenoid, lateral to body of sphenoid. It transmits optic nerve and ophthalmic artery, surrounded by meninges. Various authors have studied variations in skull foramina and correlated clinically, as variants in the body structures have been found to be associated with many inherited or acquired diseases. AIM: The present study aimed to examine morphologic and morphometric variations in cranial openings of optic canals...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28029746/respiratory-manifestations-in-38-patients-with-alstr%C3%A3-m-syndrome
#6
Caroline Boerwinkle, Jan D Marshall, Joy Bryant, William A Gahl, Kenneth N Olivier, Meral Gunay-Aygun
OBJECTIVES: Alström syndrome (AS) is a rare, multi-system condition characterized by retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, hypertriglyceridemia, cardiomyopathy, hepatorenal disease, and recurrent respiratory infections. It belongs to a group of genetic disorders known as primary ciliopathies, which includes autosomal dominant and recessive polycystic kidney diseases, as well as Joubert and Bardet-Biedl syndromes. Prior studies have suggested phenotypic overlap between primary ciliopathies affecting the non-motile, sensory cilia, and primary ciliary dyskinesia (PCD), a motile ciliopathy characterized by respiratory tract disease...
December 28, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28003983/essential-infantile-esotropia-with-inferior-oblique-hyperfunction-long-term-follow-up-of-6-muscles-approach
#7
Adriano Magli, Roberta Carelli, Elisabetta Chiariello Vecchio, Francesca Esposito, Luca Rombetto, Paolo Esposito Veneruso
AIM: To evaluate long term follow-up (10y) of 6 muscle surgical approach in essential infantile esotropia (EIE). METHODS: A 6 muscle approach to EIE was retrospectively evaluated in patients with inferior oblique (IO) hyperfunction and lateral rectus (LR) pseudoparalysis, who underwent surgery at different ages. Different clinical characters were analyzed pre- and postoperatively, in patients who underwent a 6 muscles approach ≤4 years of age. All patients underwent a multiple muscles approach: bilateral medial recti (MR) recession (4-5 mm), bilateral LR resection (lower than 7 mm) and bilateral IO recession and anteroposition...
2016: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/27999540/a-novel-missense-mutation-of-the-ddhd1-gene-associated-with-juvenile-amyotrophic-lateral-sclerosis
#8
Chujun Wu, Dongsheng Fan
Background: Juvenile amyotrophic lateral sclerosis (jALS) is a rare form of ALS with an onset age of less than 25 years and is frequently thought to be genetic in origin. DDHD1 gene mutations have been reported to be associated with the SPG28 subtype of autosomal recessive HSP but have never been reported in jALS patients. Methods: Gene screens for the causative genes of ALS, HSP and CMT using next-generation sequencing (NGS) technologies were performed on a jALS patient. Sanger sequencing was used to validate identified variants and perform segregation analysis...
2016: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/27994789/correlation-of-1-5-tesla-magnetic-resonance-imaging-with-clinical-and-intraoperative-findings-for-lumbar-disc-herniation
#9
Shumayou Dutta, Arvind Bhave, Sanjay Patil
STUDY DESIGN: A single-center prospective study. PURPOSE: A magnetic resonance imaging (MRI) scan is undeniably the gold standard for the diagnosis of a lumbar disc prolapse. Unfortunately it shares a strong association with incidental findings. In this study, we aimed to determine the extent to which a 1.5 Tesla MRI correlates with the clinical features and intraoperative findings in cases of lumbar disc prolapse. OVERVIEW OF LITERATURE: Few studies have correlated MRI with clinical findings, and none have extended this correlation to intraoperative findings...
December 2016: Asian Spine Journal
https://www.readbyqxmd.com/read/27994159/genetic-risk-for-obesity-predicts-nucleus-accumbens-size-and-responsivity-to-real-world-food-cues
#10
Kristina M Rapuano, Amanda L Zieselman, William M Kelley, James D Sargent, Todd F Heatherton, Diane Gilbert-Diamond
Obesity is a major public health concern that involves an interaction between genetic susceptibility and exposure to environmental cues (e.g., food marketing); however, the mechanisms that link these factors and contribute to unhealthy eating are unclear. Using a well-known obesity risk polymorphism (FTO rs9939609) in a sample of 78 children (ages 9-12 y), we observed that children at risk for obesity exhibited stronger responses to food commercials in the nucleus accumbens (NAcc) than children not at risk...
January 3, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27986642/anatomic-characteristics-of-the-mitral-isthmus-region-the-left-atrial-appendage-isthmus-as-a-possible-ablation-target
#11
Mateusz K Hołda, Mateusz Koziej, Jakub Hołda, Kamil Tyrak, Katarzyna Piątek, Filip Bolechała, Wiesława Klimek-Piotrowska
The mitral isthmus is a part of the postero-inferior area of the lateral left atrial wall located between the mitral annulus and the left inferior pulmonary vein ostium. Linear ablation lesions are created within the mitral isthmus for the invasive treatment of left atrial arrhythmias. However, the anatomy of this region is not fully understood. The aim of this study has been to provide a detailed morphometric description of the mitral isthmus region and to propose another possible isthmus within the investigated heart area that may serve as a potential new ablation target...
December 13, 2016: Annals of Anatomy, Anatomischer Anzeiger: Official Organ of the Anatomische Gesellschaft
https://www.readbyqxmd.com/read/27980365/comparison-of-astigmatism-induced-by-combined-inferior-oblique-anterior-transposition-procedure-and-lateral-rectus-recession-alone
#12
Sun Jung Eum, Bo Young Chun
PURPOSE: The purpose of this study is to compare the magnitude and axis of astigmatism induced by a combined inferior oblique (IO) anterior transposition procedure with lateral rectus (LR) recession versus LR recession alone. METHODS: Forty-six patients were retrospectively analyzed. The subjects were divided into two groups: those having concurrent inferior oblique muscle overaction (IOOA) and intermittent exotropia (group 1, 20 patients) and those having only intermittent exotropia as a control (group 2, 26 patients)...
December 2016: Korean Journal of Ophthalmology: KJO
https://www.readbyqxmd.com/read/27977825/microsurgical-instruments-in-laterally-moved-coronally-advanced-flap-for-miller-class-iii-isolated-recession-defects-a-randomized-controlled-clinical-trial
#13
Onur Ucak, Mustafa Ozcan, Gulsah Seydaoglu, M Cenk Haytac
The aim of this study was to evaluate the laterally moved coronally advanced flap (LMCAF) technique in which magnified vision was used in conjunction with microsurgical instruments (LMCAF-M), and to compare the results with conventional LMCAF technique (LMCAF-C) in Miller Class III isolated recession-type defects. A total of 50 patients with recessions located at incisors and canines were treated with LMCAF-M or LMCAF-C. Outcome parameters (complete root coverage [CRC] and mean root coverage [MRC]) were assessed 6 months postoperatively...
January 2017: International Journal of Periodontics & Restorative Dentistry
https://www.readbyqxmd.com/read/27977823/histologic-and-clinical-study-of-gingival-recession-treated-with-subepithelial-connective-tissue-graft-a-case-report
#14
Ana-María García-De-la-Fuente, Luis Antonio Aguirre-Zorzano, Ruth Estefanía-Fresco, Laia Roig Ódena, José-Manuel Aguirre-Urizar
Subepithelial connective tissue graft (SCTG) is considered the gold standard for treatment of gingival recessions. For ethical reasons, most studies report only clinical and not histologic results. A 20-year-old woman presenting with a localized gingival recession of 5 mm in the mandibular left central incisor was treated with SCTG. According to the initial treatment plan, the tooth was extracted 11 months later and a histologic study was performed, revealing new attachment of connective tissue with collagen fibers that were directly inserted in a perpendicular way into dentin areas and new cement areas (1...
January 2017: International Journal of Periodontics & Restorative Dentistry
https://www.readbyqxmd.com/read/27974499/human-sod1-als-mutations-in-a-drosophila-knock-in-model-cause-severe-phenotypes-and-reveal-dosage-sensitive-gain-and-loss-of-function-components
#15
Asli Şahin, Aaron Held, Kirsten Bredvik, Paxton Major, Toni-Marie Achilli, Abigail G Kerson, Kristi Wharton, Geoff Stilwell, Robert Reenan
Amyotrophic Lateral Sclerosis (ALS) is the most common adult-onset motor neuron disease and familial forms can be caused by numerous dominant mutations of the copper-zinc Superoxide Dismutase 1 (SOD1) gene. Substantial efforts have been invested in studying SOD1-ALS transgenic animal models; yet, the molecular mechanisms by which ALS-mutant SOD1 protein acquires toxicity are not well understood. ALS-like phenotypes in animal models are highly dependent on transgene dosage. Thus, issues of whether the ALS-like phenotypes of these models stem from overexpression of mutant alleles or from aspects of the SOD1 mutation itself are not easily deconvolved...
December 14, 2016: Genetics
https://www.readbyqxmd.com/read/27939776/magnetic-susceptibility-as-a-simple-tracer-for-fluvial-sediment-source-ascription-during-storm-events
#16
Kate M Rowntree, Bennie W van der Waal, Simon Pulley
Sediment tracing using a single tracer, low frequency magnetic susceptibility (Xlf), was used to apportion suspended sediment to geologically defined source areas and to interpret sediment source changes during flood events in the degraded catchment of the Vuvu River, a headwater tributary of the Mzimbubu River, South Africa. The method was tested as a simple tool for use by catchment managers concerned with controlling erosion. The geology of the 58 km(2) catchment comprises two distinct formations: basalt in the upper catchment with a characteristically high magnetic susceptibility and shales with a low magnetic susceptibility in the lower catchment...
December 7, 2016: Journal of Environmental Management
https://www.readbyqxmd.com/read/27913443/gelatinous-drop-like-corneal-dystrophy-a-review
#17
REVIEW
Hrishikesh Kaza, Manas R Barik, Mamatha M Reddy, Ruchi Mittal, Sujata Das
Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive form of corneal dystrophy characterised by subepithelial and stromal amyloid deposits. It is relatively common in Japan. It usually presents in the first two decades of life with subepithelial nodular lesions that later coalesce to form mulberry-like opacities. Although various surgical modalities have been attempted, recurrence remains a major challenge.
January 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27913261/typical-symptoms-of-normal-pressure-hydrocephalus-caused-by-choroid-plexus-papilloma-in-the-cerebellopontine-angle
#18
Hiroshi Ito, Yukiko Nakahara, Masatou Kawashima, Jun Masuoka, Tatsuya Abe, Toshio Matsushima
BACKGROUND: Choroid plexus papillomas (CPPs) are rare benign intracranial tumors. We report a rare case of CPP manifesting with typical symptoms of normal-pressure hydrocephalus rather than obstructive hydrocephalus. CASE DESCRIPTION: A 45-year-old woman presented with a 6-year history of headache and typical symptoms of normal-pressure hydrocephalus, including gait disturbance, urinary incontinence, and cognitive dysfunction, in addition to the more common symptoms of CPP, such as lower cranial nerve dysfunctions and ataxia...
November 29, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27900487/lipoid-proteinosis-unveiled-by-oral-mucosal-lesions-a-comprehensive-analysis-of-137-cases
#19
Boaz Frenkel, Marilena Vered, Shlomo Taicher, Noam Yarom
OBJECTIVES: Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by deposits of hyaline material within skin and mucous membranes of the upper aerodigestive tract, especially the vocal cords. We aimed to investigate possible associations between oral LP (oLP) manifestations and demographic data and extra-oral lesions. MATERIAL AND METHODS: Cases of oLP were collected following a systematic search of Medline's PubMed and Google Scholar (1948-2014)...
November 29, 2016: Clinical Oral Investigations
https://www.readbyqxmd.com/read/27896899/characterization-of-a-novel-form-of-progressive-retinal-atrophy-in-whippet-dogs-a-clinical-electroretinographic-and-breeding-study
#20
André Tavares Somma, Juan Carlos Duque Moreno, Mario Teruo Sato, Blanche Dreher Rodrigues, Marianna Bacellar-Galdino, Laurence Mireille Occelli, Simon Michael Petersen-Jones, Fabiano Montiani-Ferreira
OBJECTIVE: To describe a form of progressive retinal atrophy (PRA) in Whippets including clinical, electroretinographic, optical coherence tomographic changes and pedigree analysis. ANIMALS STUDIED: Client-owned Whippet dogs (n = 51) living in Brazil. PROCEDURES: All animals were submitted for routine ophthalmic screening for presumed inherited ocular disease, which included the following: visual tests, such as obstacle course tests, in scotopic and photopic conditions, cotton ball test, dazzle reflex, ocular fundus evaluation by indirect ophthalmoscopy followed by fundus photography...
November 29, 2016: Veterinary Ophthalmology
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