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https://www.readbyqxmd.com/read/28238457/intraoperative-findings-in-consecutive-exotropia-with-and-without-adduction-deficit
#1
Sarah R Hatt, David A Leske, Jae Ho Jung, Jonathan M Holmes
PURPOSE: Consecutive exotropia may be associated with limited adduction, which has been reported to be caused by 1 or more anatomic abnormalities of rectus muscles or their insertions. We studied the relative frequency of grades of adduction deficit and the relative frequency of abnormal anatomic findings. DESIGN: Retrospective cohort study. PARTICIPANTS: Patients undergoing surgery for consecutive exotropia. METHODS: Preoperative duction deficits were graded on a -5 (severe limitation) to 0 (normal) scale...
February 23, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28237315/loss-of-spatacsin-function-alters-lysosomal-lipid-clearance-leading-to-upper-and-lower-motor-neuron-degeneration
#2
Julien Branchu, Maxime Boutry, Laura Sourd, Marine Depp, Céline Leone, Alexandrine Corriger, Maeva Vallucci, Typhaine Esteves, Raphaël Matusiak, Magali Dumont, Marie-Paule Muriel, Filippo M Santorelli, Alexis Brice, Khalid Hamid El Hachimi, Giovanni Stevanin, Frédéric Darios
Mutations in SPG11 account for the most common form of autosomal recessive hereditary spastic paraplegia (HSP), characterized by a gait disorder associated with various brain alterations. Mutations in the same gene are also responsible for rare forms of Charcot-Marie-Tooth (CMT) disease and progressive juvenile-onset amyotrophic lateral sclerosis (ALS). To elucidate the physiopathological mechanisms underlying these human pathologies, we disrupted the Spg11 gene in mice by inserting stop codons in exon 32, mimicking the most frequent mutations found in patients...
February 22, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28236514/familial-hematuria-a-review
#3
REVIEW
Pavlína Plevová, Josef Gut, Jan Janda
The most frequent cause of familial glomerular hematuria is thin basement membrane nephropathy (TBMN) caused by germline COL4A3 or COL4A4 gene mutations. Less frequent but important cause with respect to morbidity is Alport syndrome caused by germline COL4A5 gene mutations. The features of Alport syndrome include hematuria, proteinuria and all males with X-linked disease and all individuals with recessive disease will develop end stage renal disease, usually at early youth. In X-linked Alport syndrome, a clear genotype-phenotype correlation is typically observed in men...
January 31, 2017: Medicina
https://www.readbyqxmd.com/read/28230588/how-to-expose-the-entire-sella-floor-with-minimal-manipulation-during-an-endoscopic-endonasal-transsphenoidal-approach
#4
Do Hyun Kim, Yong-Kil Hong, Sin-Soo Jeun, Yong Jin Park, Soo Whan Kim, Jin Hee Cho, Boo-Young Kim, Sung Won Kim
OBJECTIVE: A method of opening the posterior ethmoid air cells with minimal manipulation is important for adequate exposure of the sella floor and minimal nasal morbidity. METHODS: Between February 2009 and August 2016, 373 patients with skull-base tumors underwent surgery via endoscopic endonasal transsphenoidal approach with the 2-nostrils/4-hands technique using this technique. RESULTS: A linear incision was made laterally toward one-third of the superior turbinate along the superior border of the sphenoid sinus ostium...
February 22, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28229379/a-novel-frameshift-mutation-in-the-sterol-27-hydroxylase-gene-in-an-egyptian-family-with-cerebrotendinous-xanthomatosis-without-cataract
#5
Mohamed S Abdel-Hamid, Mahmoud Y Issa, Ghada A Otaify, Maha S Zaki
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. CTX is characterized by tendon xanthomas, juvenile cataracts and multiple progressive neurological symptoms. Here we report on the clinical and molecular findings of a 35-years old Egyptian patient with CTX without cataract. Parents were first cousins with family history of two deceased sibs with mild impaired cognitive functions and epilepsy without appearance of tendon xanthomas...
February 22, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28204925/circumferential-fusion-for-degenerative-lumbar-spondylolisthesis-complicated-by-distal-junctional-grade-4-spondylolisthesis-in-the-sub-acute-post-operative-setting
#6
Alexander A Theologis, Deeptee Jain, Christopher P Ames, Murat Pekmezci
INTRODUCTION: Surgical management for lumbar stenosis is generally safe and provides significant improvements in pain, disability, and function. Successful lumbar decompression hinges on removing an appropriate amount of lamina and other compressive pathology in the lateral recess. Too little bony decompression can result in persistent pain and disability, while over resection of the pars and/or facets may jeopardize spinal stability. CASE REPORT: In this unique report, we present for the first time an acute iatrogenic grade 4 L5-S1 spondylolisthesis distal to a L3-5 laminectomy and circumferential instrumented fusion due to bilateral iatrogenic L5 pars fractures and its management and clinical outcomes after revision operation...
February 15, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28197978/managing-cardiovascular-risk-in-lysosomal-acid-lipase-deficiency
#7
REVIEW
James J Maciejko
Lysosomal acid lipase deficiency (LAL-D) is a rare, life-threatening, autosomal recessive, lysosomal storage disease caused by mutations in the LIPA gene, which encodes for lysosomal acid lipase (LAL). This enzyme is necessary for the hydrolysis of cholesteryl ester and triglyceride in lysosomes. Deficient LAL activity causes accumulation of these lipids in lysosomes and a marked decrease in the cytoplasmic free cholesterol concentration, leading to dysfunctional cholesterol homeostasis. The accumulation of neutral lipid occurs predominantly in liver, spleen, and macrophages throughout the body, and the aberrant cholesterol homeostasis causes a marked dyslipidemia...
February 14, 2017: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/28180981/does-pre-operative-magnetic-resonance-imaging-of-the-lumbar-multifidus-muscle-predict-clinical-outcomes-following-lumbar-spinal-decompression-for-symptomatic-spinal-stenosis
#8
Mario G T Zotti, F Vilas Boas, T Clifton, M Piche, W W Yoon, B J C Freeman
PURPOSE: To investigate whether pre-operative magnetic resonance imaging (MRI) of the lumbar multifidus muscle (LMM) would predict clinical outcomes following lumbar spinal decompression for symptomatic spinal stenosis. METHODS: A prospective cohort of patients with symptomatic neurogenic claudication, documented spinal stenosis on pre-operative MRI underwent spinal decompression. All subjects completed standardised outcome measures (Core Outcome Measures Index (COMI), Oswestry Disability Index (ODI v2...
February 8, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28176794/x-linked-primary-ciliary-dyskinesia-due-to-mutations-in-the-cytoplasmic-axonemal-dynein-assembly-factor-pih1d3
#9
Chiara Olcese, Mitali P Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Hywel J Williams, Cara K Vaughan, Jane Hayward, Alice Goldenberg, Richard D Emes, Mustafa M Munye, Laura Dyer, Thomas Cahill, Jeremy Bevillard, Corinne Gehrig, Michel Guipponi, Sandra Chantot, Philippe Duquesnoy, Lucie Thomas, Ludovic Jeanson, Bruno Copin, Aline Tamalet, Christel Thauvin-Robinet, Jean-François Papon, Antoine Garin, Isabelle Pin, Gabriella Vera, Paul Aurora, Mahmoud R Fassad, Lucy Jenkins, Christopher Boustred, Thomas Cullup, Mellisa Dixon, Alexandros Onoufriadis, Andrew Bush, Eddie M K Chung, Stylianos E Antonarakis, Michael R Loebinger, Robert Wilson, Miguel Armengot, Estelle Escudier, Claire Hogg, Serge Amselem, Zhaoxia Sun, Lucia Bartoloni, Jean-Louis Blouin, Hannah M Mitchison
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid. Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-assembly of dynein arm motors into cilia and flagella axonemes. Before their import into cilia and flagella, multi-subunit axonemal dynein arms are thought to be stabilized and pre-assembled in the cytoplasm through a DNAAF2-DNAAF4-HSP90 complex akin to the HSP90 co-chaperone R2TP complex...
February 8, 2017: Nature Communications
https://www.readbyqxmd.com/read/28175991/spontaneous-cerebrospinal-fluid-leaks-in-the-anterior-skull-base-secondary-to-idiopathic-intracranial-hypertension
#10
Gabriel Martínez-Capoccioni, Ramón Serramito-García, Maria Martín-Bailón, Alfredo García-Allut, Carlos Martín-Martín
Spontaneous cerebrospinal fluid (CSF) leaks represent a clinical entity in which CSF rhinorrhea occurs in the absence of any inciting event. Spontaneous CSF leaks are associated with elevated intracranial pressure (ICP) or have underlying idiopathic intracranial hypertension (IIH). We report a cohort of patients who have undergone nasal endoscopic repair for spontaneous CSF leaks. We review our perioperative complications and the effectiveness of the nasal endoscopic approach to repair spontaneous CSF leaks...
February 7, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28158159/full-endoscopic-assisted-lumbar-decompressive-surgery-performed-in-an-outpatient-ambulatory-facility-report-of-5-years-of-complications-and-risk-factors
#11
Solomon Kamson, Andrea M Trescot, Paul D Sampson, Yiyi Zhang
BACKGROUND: Minimally invasive surgery (MIS) technique is becoming the standard tissue sparing approach for decompression of lumbar central and lateral recess stenosis, intervertebral disc herniation, or any situation that would have required extensive open decompression laminectomy. Full-endoscopic or arthroscopic assisted surgery is arguably the "ultra-MIS" approach to lumbar spinal pathology. Age and body mass index (BMI) are significant risk factors to be considered in full-endoscopic assisted ultra-MIS...
February 2017: Pain Physician
https://www.readbyqxmd.com/read/28157257/compound-heterozygous-pomt1-mutations-in-a-chinese-family-with-autosomal-recessive-muscular-dystrophy-dystroglycanopathy-c1
#12
Pengzhi Hu, Song Wu, Lamei Yuan, Qiongfen Lin, Wen Zheng, Hong Xia, Hongbo Xu, Liping Guan, Hao Deng
Muscular dystrophy-dystroglycanopathy (MDDG) is a genetically and clinically heterogeneous group of muscular disorders, characterized by congenital muscular dystrophy or later-onset limb-girdle muscular dystrophy accompanied by brain and ocular abnormalities, resulting from aberrant alpha-dystroglycan glycosylation. Exome sequencing and Sanger sequencing were performed on a six-generation consanguineous Han Chinese family, members of which had autosomal recessive MDDG. Compound heterozygous mutations, c.1338+1G>A (p...
February 3, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28153626/contralateral-interlaminar-keyhole-percutaneous-endoscopic-surgery-in-patients-with-unilateral-radiculopathy-technical-notes
#13
Jae Ha Hwang, Cheul Woong Park
OBJECTIVE: Percutaneous endoscopic surgery is increasingly used as an alternative to open microsurgery for treating lumbar spinal diseases. The purpose of this study was to determine the feasibility and efficacy of contralateral keyhole endoscopic surgery (CKES) for treating unilateral radiculopathy. METHODS: We performed percutaneous endoscopic sublaminar decompression via the contralateral interlaminar approach in 14 patients with unilateral radiculopathy. All procedures were performed under epidural anesthesia...
January 30, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28153620/potential-and-limitations-of-neural-decompression-in-extreme-lateral-interbody-fusion-a-systematic-review
#14
REVIEW
Gernot Lang, Moritz Perrech, Rodrigo Navarro-Ramirez, Ibrahim Hussain, Brenton Pennicooke, Farah Maryam, Mauricio J Avila, Roger Hartl
BACKGROUND: Extreme lateral interbody fusion (ELIF) is a powerful tool for interbody fusion and coronal deformity correction. However, evidence regarding the success of ELIF in decompressing foraminal, lateral recesses and central canal stenosis is lacking. The purpose of this study was to systematically review current literature on the potential and limitations of ELIF to indirectly decompress neural elements. METHODS: A systematic literature search in the PubMed, Cochrane and ScienceDirect databases was performed according to PRISM criteria...
January 30, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28141716/apraxia-autism-attention-deficit-hyperactivity-disorder-do-we-have-a-new-spectrum
#15
Jayna Schumacher, Kristine E Strand, Marilyn Augustyn
Gio is a bilingual 6-year 10-month-old boy new to your practice who presents for an unscheduled visit with concerns for speech and language delay. He was born in Portugal, and his native language is Portuguese. When he was 21 months old, his family moved to Italy and then moved to the United States 3 years later. He had very little contact with other children while living in Italy, but his parents report that he has made friends quickly in the United States. His family speaks Portuguese at home, although his father is fluent in English...
February 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28120083/combination-of-magnetic-resonance-imaging-and-electrophysiological-studies-in-lumbar-disc-herniation
#16
Wenxiang Zhong, Jichao Wang, Wenchuan Zhang, Pengfei Liu, Massimiliano Visocchi, Shi-Ting Li
Objective We aimed to study the clinical value of magnetic resonance imaging (MRI) and electrophysiological studies in the diagnosis of lumbar disc herniation and in the evaluation of the therapeutic effect of discectomy. Methods In this study, 265 patients with LDH were treated with discectomy after assessment by the Japanese Orthopedic Association (JOA) score, MRI, and electrophysiological studies. All the patients were followed-up for 6 years. The effects of the operation were assessed by determining the angle between the nerve root canal and disc protrusion (AN value), the stenotic ratio of the spinal canal, the width of the lateral recess, motor conduction velocity (MCV), sensory conduction velocity (SCV), and nerve action potential (NAP) before and after operation...
2017: Acta Neurochirurgica. Supplement
https://www.readbyqxmd.com/read/28120057/reconstruction-of-vertebral-body-after-radiofrequency-ablation-and-augmentation-in-dorsolumbar-metastatic-vertebral-fracture-analysis-of-clinical-and-radiological-outcome-in-a-clinical-series-of-18-patients
#17
Rosario Maugeri, Francesca Graziano, Luigi Basile, Carlo Gulì, Antonella Giugno, Giuseppe Roberto Giammalva, Massimiliano Visocchi, Domenico Gerardo Iacopino
BACKGROUND: Painful spinal metastases usually occur in malignant neoplastic disease. Treatment for bone metastases has been largely conservative, and it includes the use of high doses of analgesics, radiotherapy, chemotherapy, hormone therapy, and bisphosphonates; however, results are sometimes transient and ineffective. In the presence of neurological involvement a surgical strategy should be considered. Recently, percutaneous procedures such as radiofrequency ablation, vertebroplasty, and kyphoplasty have been introduced as palliative techniques to treat painful vertebral metastases [3, 11, 25]...
2017: Acta Neurochirurgica. Supplement
https://www.readbyqxmd.com/read/28111830/mutations-in-the-human-argininosuccinate-synthetase-ass1-gene-impact-on-patients-common-changes-and-structural-considerations
#18
Carmen Diez-Fernandez, Véronique Rüfenacht, Johannes Häberle
Citrullinemia type 1 is an autosomal recessive urea cycle disorder caused by defects in the argininosuccinate synthetase (ASS) enzyme due to mutations in ASS1 gene. An impairment of ASS function can lead to a wide spectrum of phenotypes, from life-threatening neonatal hyperammonemia to a later onset with mild symptoms, and even some asymptomatic patients exhibiting an only biochemical phenotype. The disease is panethnic. In this update, we report 137 mutations (64 of which are novel), consisting of 89 missense mutations, 19 nonsense mutations, 17 mutations that affect splicing and 12 deletions...
January 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28110408/gingival-recessions-of-lower-incisors-after-proclination-by-orthodontics-alone-or-in-combination-with-anterior-mandibular-alveolar-process-distraction-osteogenesis
#19
Gregory S Antonarakis, Christof Urs Joss, Albino Triaca, Anne Marie Kuijpers-Jagtman, Stavros Kiliaridis
OBJECTIVES: The aim of this study was to longitudinally compare periodontal conditions in consecutive patients who had orthodontic treatment with proclination of lower incisors either by orthodontics alone or in combination with anterior mandibular alveolar process distraction osteogenesis (DO). MATERIALS AND METHODS: Nineteen patients had orthodontic treatment with DO, 18 with extraction of lower premolars (Ex), and 18 without extractions (Nonex). Lateral cephalograms were used to evaluate lower incisor proclination, while study casts and intraoral photographs were used to evaluate labial and lingual gingival recessions before (T1) and at an average of 4...
January 21, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/28106694/the-endoscopic-prelacrimal-recess-approach-to-the-pterygopalatine-fossa-and-infratemporal-fossa
#20
Li Gao, Lei Zhou, Zhengshou Dai, Xinsheng Huang
PURPOSE: The authors studied the anatomic importance of the endoscopic prelacrimal recess approach (PLRA) to the pterygopalatine fossa (PPF) and infratemporal fossa (ITF). METHODS: Ten adult heads (20 sides) from cadavers fixed in formalin were dissected using the PLRA. Anatomic dissections were detailed and several crucial landmarks measured. RESULTS: Identification of the infraorbital neurovascular bundle is the crucial step for the detection of other branches of the maxillary artery...
January 18, 2017: Journal of Craniofacial Surgery
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