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https://www.readbyqxmd.com/read/27913443/gelatinous-drop-like-corneal-dystrophy-a-review
#1
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.
December 2, 2016: 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-a-case-report
#2
Hiroshi Ito, Yukiko Nakahara, Masatou Kawashima, Jun Masuoka, Tatsuya Abe, Toshio Matsushima
BACKGROUND: Choroid plexus papillomas (CPPs) are rare benign intracranial tumors. Here, we report a rare case of CPP presenting with typical symptoms of normal-pressure hydrocephalus not with obstructive hydrocephalus. CASE DESCRIPTION: A 45-year-old female presented with a 6-year history of headache and typical symptoms of normal-pressure hydrocephalus (NPH) such as gait disturbance, urinary incontinence, and cognitive dysfunction in addition to the more common symptoms of choroid plexus papillomas (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
#3
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
#4
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
https://www.readbyqxmd.com/read/27890911/suprapedicular-foraminal-endoscopic-approach-to-lumbar-lateral-recess-decompression-surgery-to-treat-degenerative-lumbar-spinal-stenosis
#5
Ya-Peng Wang, Wei Zhang, Bao-Li Li, Ya-Peng Sun, Wen-Yuan Ding, Yong Shen
BACKGROUND To discuss the strategy of suprapedicular foraminal endoscopic approach to lumbar lateral recess decompression and evaluate the safety and effectiveness of this strategy. MATERIAL AND METHODS Complete clinical information of 52 cases of lumbar lateral recess decompression with therapy of suprapedicular foraminal endoscopic approach were analyzed during the period from February 2010 to April 2014 in the Third Hospital of Hebei. All patients were followed up for 24 months, and VAS, JOA, ODI, and LRD were compared between preoperative and postoperative therapy and changes of FA...
November 28, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/27890673/functional-validation-of-abhd12-mutations-in-the-neurodegenerative-disease-pharc
#6
Angèle Tingaud-Sequeira, Demetrio Raldúa, Julie Lavie, Guilaine Mathieu, Magali Bordier, Anja Knoll-Gellida, Pierre Rambeau, Isabelle Coupry, Michèle André, Eva Malm, Claes Möller, Sten Andreasson, Nanna D Rendtorff, Lisbeth Tranebjærg, Michel Koenig, Didier Lacombe, Cyril Goizet, Patrick J Babin
ABHD12 mutations have been linked to neurodegenerative PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), a rare, progressive, autosomal, recessive disease. Although ABHD12 is suspected to play a role in the lysophosphatidylserine and/or endocannabinoid pathways, its precise functional role(s) leading to PHARC disease had not previously been characterized. Cell and zebrafish models were designed to demonstrate the causal link between an identified new missense mutation p...
November 23, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27884168/ataxia-telangiectasia-a-review
#7
REVIEW
Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A Lefton-Greif, Sharon A McGrath-Morrow, Thomas O Crawford, Howard M Lederman
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. EPIDEMIOLOGY: The world-wide prevalence of A-T is estimated to be between 1 in 40,000 and 1 in 100,000 live births. CLINICAL DESCRIPTION: A-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages...
November 25, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27876139/conversations-between-insulin-and-bone-potential-mechanism-of-high-bone-density-in-patients-with-berardinelli-seip-congenital-lipodystrophy
#8
Josivan Gomes Lima, Natalia Nobrega Lima, Lucia Helena C Nobrega, Selma Maria B Jeronimo
Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive syndrome characterized by a difficulty storing lipid in adipocytes, low body fat, hypertriglyceridemia, and fat liver. The serum leptin is usually very low, and serum insulin, as well as HOMAIR (homeostasis model assessment), is very high and correlated positively with bone mineral density (BMD). Despite deficiency/insufficiency of vitamin D, low body mass index, low daily calcium intake, physical inactivity, and menarche at a later age, BSCL patients usually have normal or even high BMD...
December 2016: Medical Hypotheses
https://www.readbyqxmd.com/read/27870353/eye-size-and-set-in-small-bodied-fossil-primates-a-three-dimensional-method
#9
Alfred L Rosenberger, Tim D Smith, Valerie B DeLeon, Anne M Burrows, Robert Schenck, Lauren B Halenar
We introduce a new method to geometrically reconstruct eye volume and placement in small-bodied primates based on the three-dimensional contour of the intraorbital surface. We validate it using seven species of living primates, with dry skulls and wet dissections, and test its application on seven species of Paleogene fossils of interest. The method performs well even when the orbit is damaged and incomplete, lacking the postorbital bar and represented only by the orbital floor. Eye volume is an important quantity for anatomic and metabolic reasons, which due to differences in eye set, or position within (or outside) the bony orbit, can be underestimated in living and fossil forms when calculated from aperture diameter...
December 2016: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/27870305/bad-times-slimmer-children
#10
Cristina Bellés-Obrero, Sergi Jiménez-Martín, Judit Vall-Castello
Although the majority of the literature has confirmed that recessions are beneficial for adults' health and babies' outcomes at delivery, this effect should not necessarily be the same for children. In this paper, we study the effect of business cycle conditions on infant underweight, overweight, and obesity. We exploit eight waves of repeated cross-sectional data (1987-2012) of the Spanish National Health Survey for children aged 2-15 and use the regional unemployment rate of the trimester of the interview as a proxy for the business cycle phase at the local level...
November 2016: Health Economics
https://www.readbyqxmd.com/read/27863377/variable-patterns-of-ectopic-mineralization-in-enpp1asj-2j-mice-a-model-for-generalized-arterial-calcification-of-infancy
#11
Sarah Y Siu, Nathaniel A Dyment, David W Rowe, John P Sundberg, Jouni Uitto, Qiaoli Li
Generalized arterial calcification of infancy (GACI) is an autosomal recessive disorder characterized by early onset of extensive mineralization of the cardiovascular system. The classical forms of GACI are caused by mutations in the ENPP1 gene, encoding a membrane-bound pyrophosphatase/phosphodiesterase that hydrolyzes ATP to AMP and inorganic pyrophosphate. The asj-2J mouse harboring a spontaneous mutation in the Enpp1 gene has been characterized as a model for GACI. These mutant mice develop ectopic mineralization in skin and vascular connective tissues as well as in cartilage and collagen-rich tendons and ligaments...
November 14, 2016: Oncotarget
https://www.readbyqxmd.com/read/27861667/esthetic-outcome-of-implants-placed-in-fresh-extraction-sockets-by-clinicians-with-or-without-experience-a-medium-term-retrospective-evaluation
#12
Antonio Barone, Paolo Toti, Simone Marconcini, Giacomo Derchi, Marchionni Saverio, Ugo Covani
PURPOSE: This study discussed a 3-year retrospective survey of clinical and esthetic outcomes of immediate implants placed by experienced senior surgeons and residents in implant dentistry. MATERIALS AND METHODS: The retrospective chart review included patients who received single-tooth extraction and immediate implant placement at the Tuscan Stomatology Institute between 2009 and 2011. Treated independent postextraction areas were divided into two groups according to the operator's experience: expert versus nonexpert group...
November 2016: International Journal of Oral & Maxillofacial Implants
https://www.readbyqxmd.com/read/27861587/cellular-basis-of-pineal-gland-development-emerging-role-of-microglia-as-phenotype-regulator
#13
María P Ibañez Rodriguez, Stephen C Noctor, Estela M Muñoz
The adult pineal gland is composed of pinealocytes, astrocytes, microglia, and other interstitial cells that have been described in detail. However, factors that contribute to pineal development have not been fully elucidated, nor have pineal cell lineages been well characterized. We applied systematic double, triple and quadruple labeling of cell-specific markers on prenatal, postnatal and mature rat pineal gland tissue combined with confocal microscopy to provide a comprehensive view of the cellular dynamics and cell lineages that contribute to pineal gland development...
2016: PloS One
https://www.readbyqxmd.com/read/27857874/minimizing-septectomy-for-endoscopic-transsphenoidal-approaches-to-the-sellar-and-suprasellar-regions-a-cadaveric-morphometric-study
#14
Hermes G Garcia, Marc Otten, Marc Pyfer, Saurabh J Singhal, Alfred Marc Iloreta, Varun R Kshettry, Christopher J Farrell, Gurston Nyquist, Marc Rosen, James J Evans
The purpose of this study was to evaluate the effect of posterior septectomy size on surgical exposure and surgical freedom during the endoscopic transsphenoidal approach to the sella and parasellar region. Dissections were performed on 10 embalmed cadaver heads. Dissections started with wide bilateral sphenoidotomies, lateralization of middle turbinates, and a 5-mm posterior septectomy. The posterior septectomy was increased in 5-mm increments to a maximum of 35 mm, followed by bilateral middle turbinectomies...
December 2016: Journal of Neurological Surgery. Part B, Skull Base
https://www.readbyqxmd.com/read/27842935/surgical-treatment-results-for-flexible-flatfoot-in-adolescents
#15
Necip Selcuk Yontar, Tahir Ogut, Mehmet Fatih Guven, Huseyin Botanlioglu, Gokhan Kaynak, Ata Can
OBJECTIVE: Idiopathic flexible pes planus (IFPP) is a common foot problem in adolescents and young adults. Hypothesis for the present study was that combination of procedures for IFPP can achieve results in adolescents and young adults that are as good as those seen in adult-acquired pes planovalgus (AAPP) treatment in adults. METHODS: A total of 21 feet of 18 patients (10 boys, 8 girls) with mean age of 15.6 years underwent surgical reconstruction for flatfoot deformity...
November 11, 2016: Acta Orthopaedica et Traumatologica Turcica
https://www.readbyqxmd.com/read/27833878/the-epitympanum-revisited-endoscopic-anatomy
#16
Muaaz Tarabichi, Daniele Marchioni, Mustafa Kapadia
In contrast to other means of studying the epitymapnum, the endoscope allows unparallel access without disruption of anatomy. The aim of this study is to delineate the anatomy of the epitympanum through transcanal endoscopy. Systematic dissection of anatomic specimens. We performed systematic endoscopic dissection of 20 ears in 10 fresh frozen anatomical specimens. A detailed flow sheet was filled up documenting the status of the lateral attic folds, the tensor fold, the cog and the tensor folds, the supratubal recess, and the patency of the anterior and posterior isthmus...
December 2016: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/27830356/successful-treatment-of-a-patient-with-ethylmalonic-encephalopathy-by-intravenous-n-acetylcysteine
#17
Mustafa Kılıç, Özge Dedeoğlu, Rahşan Göçmen, Selman Kesici, Deniz Yüksel
Ethylmalonic encephalopathy (EE) is an autosomal recessive devastating metabolic disorder affecting the brain, gastrointestinal tract, peripheral vessels and rarely the other vascular organs. We report a 10-month-old girl who presented as a meningococcemia clinic but later diagnosed ethylmalonic encephalopathy. Molecular analyses revealed a homozygous c.554 T > G; p. L185R mutation in ETHE1 gene. She was only partially benefited from riboflavine, coenzyme Q10, metronidazole, N-acetylcysteine and symptomatic treatment and discharged from hospital with the sequela of oxygene dependance and developmental delay...
November 9, 2016: Metabolic Brain Disease
https://www.readbyqxmd.com/read/27807715/impact-of-non-surgical-periodontal-therapy-on-saliva-and-serum-levels-of-markers-of-oxidative-stress
#18
Canan Önder, Şivge Kurgan, S Merve Altıngöz, Nilsun Bağış, Metin Uyanık, Muhittin A Serdar, Alpdoğan Kantarcı, Meral Günhan
OBJECTIVE: The purpose of this study was to determine the effect of non-surgical periodontal treatment on markers of oxidative stress in saliva and serum in patients with chronic periodontitis. MATERIALS AND METHODS: In total, 25 patients, who were diagnosed with generalized chronic periodontitis (11 females and 14 males), and 26 systemically and periodontally healthy individuals (15 females and 11 males) were included. The plaque index (PI), gingival index (GI), probing pocket depth (PPD), attachment loss (AL), gingival recession (GR), and bleeding on probing (BOP) were recorded at baseline and 6 weeks later...
November 2, 2016: Clinical Oral Investigations
https://www.readbyqxmd.com/read/27799810/novel-treatment-options-for-lysosomal-acid-lipase-deficiency-critical-appraisal-of-sebelipase-alfa
#19
REVIEW
Kim Su, Emma Donaldson, Reena Sharma
Lysosomal acid lipase deficiency (LAL-D) is a rare disorder of cholesterol metabolism with an autosomal recessive mode of inheritance. The absence or deficiency of the LAL enzyme gives rise to pathological accumulation of cholesterol esters in various tissues. A severe LAL-D phenotype manifesting in infancy is associated with adrenal calcification and liver and gastrointestinal involvement with characteristic early mortality. LAL-D presenting in childhood and adulthood is associated with hepatomegaly, liver fibrosis, cirrhosis, and premature atherosclerosis...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27799735/infantile-esotropia-risk-factors-associated-with-reoperation
#20
Adriano Magli, Luca Rombetto, Francesco Matarazzo, Roberta Carelli
The aim of this study was to identify clinical and demographic factors associated with misalignment after first surgery performed on children affected by infantile esotropia to evaluate the reoperation rate. A retrospective study was carried out, analyzing data from 525 children who underwent bilateral medial recti recession, bilateral lateral recti resection, and inferior oblique recession and anteroposition by the same surgeon (AM). Postoperative evaluation included assessment of motor alignment at approximately 3 months, 6 months, 1 year, and 5 years...
2016: Clinical Ophthalmology
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