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https://www.readbyqxmd.com/read/28919229/early-outcomes-of-endoscopic-contralateral-foraminal-and-lateral-recess-decompression-via-an-interlaminar-approach-in-patients-with-unilateral-radiculopathy-from-unilateral-foraminal-stenosis
#1
Hyeung Sung Kim, Ravish Patel, Byapak Paudel, Jee-Soo Jang, Il-Tae Jang, Seong-Hoon Oh, Jae Eun Park, Sol Lee
OBJECTIVE: Percutaneous endoscopic contralateral interlaminar lumbar foraminotomy (PECILF) for lumbar degenerative spinal stenosis is an established procedure. Better preservation of contralateral facet joint compared to that of the approach side has been demonstrated with uniportal bilateral decompression. The aim of this retrospective case series was to analyze the early clinical and radiological outcomes of standalone contralateral foraminotomy and lateral recess decompression using PECILF...
September 12, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28917830/al-awadi-raas-rothschild-syndrome-with-dental-anomalies-and-a-novel-wnt7a-mutation
#2
Piranit Nik Kantaputra, Seema Kapoor, Prashant Verma, Massupa Kaewgahya, Katsushige Kawasaki, Atsushi Ohazama, James R Ketudat Cairns
Al-Awadi-Raas-Rothschild syndrome (AARRS; OMIM 276820) is a very rare autosomal recessive limb malformation syndrome caused by WNT7A mutations. AARRS is characterized by various degrees of limb aplasia and hypoplasia. Normal intelligence and malformations of urogenital system are frequent findings. Complete loss of WNT7A function has been shown to cause AARRS, however, its partial loss leads to the milder malformation, Fuhrmann syndrome. An Indian boy affected with AARRS is reported. A novel homozygous base substitution mutation c...
September 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28916395/pachydermoperiostosis-the-value-of-molecular-diagnosis
#3
V Seta, Y Capri, M Battistella, M Bagot, E Bourrat
BACKGROUND: Pachydermoperiostosis is a rare autosomal recessive genetic disorder characterized by the association of periostosis and pachydermia. To date, two genes involved in prostaglandin metabolism, HPGD and SLCO2A1, have been identified. PATIENTS AND METHODS: A 7-year-old girl presented digital clubbing of the hands and feet, curved nails, hyperhidrosis, and pachydermia, as well as eczema of the trunk and limbs. The diagnosis of pachydermoperiostosis was confirmed by the detection of a homozygous mutation in the HPGD gene...
September 12, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28904567/intermittent-divergent-squint-in-prematurity-and-its-neurophysiological-aspects
#4
REVIEW
Kalpana Sharma, Praveen Panwar, Kulbhushan Prakash Chaudhary
Intermittent distance exotropia is a deviation characterized by an exophoria at near fixation and manifest exotropia at distance fixation. There is normal binocular fusional vergence and stereoacuity at near fixation, but the eyes tend to diverge in bright sunlight, tiredness, day dreaming and the patient may close one eye in such circumstances. Prematurity is associated with numerous eye pathology, besides retinopathy of prematurity, amblyopia, refractive errors, it is also associated with a higher risk esotropia and exotropia...
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28904218/early-onset-sixth-nerve-palsy-with-eccentric-fixation
#5
Kaajal D Nanda, Eve Lacey, Alki Liasis, Ken K Nischal
PURPOSE: To report four cases of early onset sixth-nerve palsy all of whom had eccentric fixation. METHODS: A retrospective case note review was undertaken of all cases presenting to the senior author's private and NHS practice with early onset sixth palsy between 2006 and 2012. As well as demographic information, details of ophthalmic, orthoptic, electrophysiological examinations, and radiological investigations that were extracted from the records. RESULTS: Four children with unilateral or asymmetric early onset sixth-nerve palsy were identified, of which three were congenital...
January 2017: American Orthoptic Journal
https://www.readbyqxmd.com/read/28901661/-d40-knl1-casc5-and-autosomal-recessive-primary-microcephaly
#6
REVIEW
Masato Takimoto
Autosomal recessive primary microcephaly (MCPH) is a very rare neuro-developmental disease with brain size reduction. More than a dozen loci encoding proteins of diverse function have been shown to be responsible for MCPH1-13. Mutations in the D40/KNL1/CASC5 gene, which was initially characterized as a gene involved in chromosomal translocation in leukemia and as a member of the cancer/testis gene family, was later found to encode a kinetochore protein essential for mitotic cell division and to cause MCPH4...
September 13, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28899465/-clinical-features-and-myo5b-mutations-of-a-family-affected-by-microvillus-inclusion-disease
#7
Ying Cheng, Hong Liang, Na-Li Cai, Li Guo, Yu-Ge Huang, Yuan-Zong Song
Microvillus inclusion disease (MVID) is an autosomal recessive disorder caused by biallelic mutations in the MYO5B or STX3 gene. Refractory diarrhea and malabsorption are the main clinical manifestations. The aim of this study was to investigate the clinical features and MYO5B gene mutations of an infant with MVID. A 21-day-old female infant was referred to the hospital with the complaint of diarrhea for 20 days. On physical examination, growth retardation of the body weight and length was found along with moderately jaundiced skin and sclera...
September 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28899405/neonatal-hemolytic-anemia-does-not-always-indicate-thalassemia-a-case-report
#8
Arwa A Al-Harazi, Bilguis M Al-Eryani, Butheinah A Al-Sharafi
BACKGROUND: Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, cartilage and bone. Hypertrichosis, erythrodontia and reddish-colored urine are often present, as well as hemolytic anemia accompanied by hepatosplenomegaly...
September 12, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28893311/evaluation-of-pre-symptomatic-nitisinone-treatment-on-long-term-outcomes-in-tyrosinemia-type-1-patients-a-systematic-review
#9
REVIEW
Julia Geppert, Chris Stinton, Karoline Freeman, Hannah Fraser, Aileen Clarke, Samantha Johnson, Paul Sutcliffe, Sian Taylor-Phillips
BACKGROUND: Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment. With medication (nitisinone) and dietary restrictions outcomes are improved. We conducted a systematic review to investigate if treatment with nitisinone following screening provides better long-term outcomes than treatment with nitisinone following symptomatic detection. METHODS: We searched Web of Science, Medline, Pre-Medline, and Embase up to 23rd September 2016 for journal articles comparing clinical outcomes of TYR1 patients receiving earlier versus later nitisinone treatment...
September 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28887284/quantitative-comparison-of-three-endoscopic-approaches-to-the-parasellar-region-laboratory-investigation
#10
Evgenii Belykh, Kaan Yağmurlu, Yuan Hong, Michael A Mooney, Baran Bozkurt, Vadim A Byvaltsev, Peter Nakaji, Mark C Preul
BACKGROUND: Endoscopic endonasal transsphenoidal and contralateral sublabial transmaxillary approaches are used for approaching parasellar lesions. The aim of this anatomical study was to compare endoscopic endonasal uninostril and binostril (contralateral) and contralateral sublabial transmaxillary approaches using a quantitative analysis of exposure limits and instrument working avenues. METHODS: Six formalin-fixed silicone-injected adult cadaveric heads (12 sides) were studied...
September 5, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28881117/comparison-of-root-images-between-post-myelographic-computed-tomography-and-magnetic-resonance-imaging-in-patients-with-lumbar-radiculopathy
#11
Chun-Kun Park, Hong-Jae Lee, Kyeong-Sik Ryu
OBJECTIVE: To evaluate the diagnostic value of computed tomography-myelography (CTM) compared to that of magnetic resonance imaging (MRI) in patients with lumbar radiculopathy. METHODS: The study included 91 patients presenting with radicular leg pain caused by herniated nucleus pulposus or lateral recess stenosis in the lumbar spine. The degree of nerve root compression on MRI and CTM was classified into four grades. The results of each imaging modality as assessed by two different observers were compared...
September 2017: Journal of Korean Neurosurgical Society
https://www.readbyqxmd.com/read/28878316/diagnostic-accuracy-of-standardised-qualitative-sensory-test-in-the-detection-of-lumbar-lateral-stenosis-involving-the-l5-nerve-root
#12
Jiann-Her Lin, Yi-Chen Hsieh, Yi-Chen Chen, Yun Wang, Chih-Cheng Chen, Yung-Hsiao Chiang
Misdiagnosis of symptomatic lumbar lateral stenosis (LS) may result in an unfavourable prognosis after surgical treatment. This study investigated the diagnostic accuracy of a standardised qualitative sensory test (SQST) in the detection of symptomatic LS in patients who had degenerative spinal disorders involving the L5 spinal nerve. We prospectively identified 75 patients, of which 60 met the inclusion criteria. Lateral recess stenosis at the L5 level or foraminal stenosis at the L5/S1 level on MRI was identified and graded by a neurosurgeon blinded to any clinical information...
September 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28867397/factors-associated-with-atypical-postoperative-drift-following-surgery-for-consecutive-exotropia
#13
Steven D Maxfield, Sarah R Hatt, David A Leske, Jae Ho Jung, Jonathan M Holmes
PURPOSE: To evaluate the associations of clinical and surgical factors with atypical postoperative drift following surgery for consecutive exotropia. METHODS: A total of 66 patients with consecutive exotropia (≥10(Δ) at distance), after historical surgery for esotropia were retrospectively identified at a tertiary medical center. All patients underwent unilateral lateral rectus recession (on adjustable suture) with medial rectus advancement and/or resection. Immediate postoperative target angle was 4(Δ)-10(Δ) of esotropia at distance, anticipating mild postoperative exodrift...
August 31, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28863212/a-young-seedling-stripe2-phenotype-in-rice-is-caused-by-mutation-of-a-chloroplast-localized-nucleoside-diphosphate-kinase-2-required-for-chloroplast-biogenesis
#14
Kunneng Zhou, Jiafa Xia, Yuanlei Wang, Tingchen Ma, Zefu Li
Chloroplast development and chlorophyll (Chl) biosynthesis in plants are regulated by many genes, but the underlying molecular mechanisms remain largely elusive. We isolated a rice mutant named yss2 (young seedling stripe2) with a striated seedling phenotype beginning from leaf 2 of delayed plant growth. The mutant developed normal green leaves from leaf 5, but reduced tillering and chlorotic leaves and panicles appeared later. Chlorotic yss2 seedlings have decreased pigment contents and impaired chloroplast development...
July 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28863111/the-endoscopic-prelacrimal-recess-approach-to-the-pterygopalatine-fossa-and-infratemporal-fossa
#15
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...
September 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28862465/lateral-access-pouch-technique-to-treat-implants-with-gingival-recession
#16
Douglas H Mahn
Connective tissue grafting is a means of developing stable and natural-looking soft-tissue architecture. The use of a subepithelial connective tissue graft (SCTG) has been successful in achieving root coverage and augmenting tissue thickness. Tunnel techniques enable root coverage with results that appear natural. These techniques can be applied to the treatment of dental implants with gingival recession. The purpose of this article is to demonstrate the use of a SCTG and a lateral access pouch in the treatment of multiple gingival recession defects affecting adjacent implants...
September 2017: Compendium of Continuing Education in Dentistry
https://www.readbyqxmd.com/read/28862257/outcomes-of-lower-eyelid-retractor-recession-and-lateral-horn-lysis-in-lower-eyelid-elevation-for-facial-nerve-palsy
#17
P Tan, J Wong, W F Siah, R Malhotra
PurposeTo report outcomes and complications of lower eyelid retractor recession and lateral horn lysis (RR) for lower eyelid elevation in patients with facial nerve palsy (FNP).Patients and methodsRetrospective review. Patients with FNP undergoing RR alone (group 1) or with adjunctive procedures (canthal suspension-group 2, tarsorrhaphy-group 3, and full-thickness skin graft-group 4) during a 5-year period were included. Patient demographics, lagophthalmos, occurrence of eyelid malpositions, recurrent retraction, and repeat procedures were noted from medical records...
September 1, 2017: Eye
https://www.readbyqxmd.com/read/28844323/idiopathic-acute-exudative-polymorphous-vitelliform-maculopathy-clinical-spectrum-and-multimodal-imaging-characteristics
#18
Irene Barbazetto, Kunal K Dansingani, Rosa Dolz-Marco, Alfonso Giovannini, F C Piccolino, Anita Agarwal, Lawrence A Yannuzzi
PURPOSE: To describe clinical findings in patients with acute exudative polymorphous vitelliform maculopathy (AEPVM). DESIGN: Retrospective, observational, multicenter case series review. PARTICIPANTS: Consecutive patients diagnosed with idiopathic AEPVM. METHODS: Review of clinical charts, multimodal imaging, electrophysiologic findings, and genetic findings in previously unpublished patients and review of the literature...
August 22, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28838109/endoscopic-endonasal-interdural-middle-fossa-approach-to-the-maxillary-nerve-anatomic-considerations-and-surgical-relevance
#19
Kumar Abhinav, David Panczykowski, Wei-Hsin Wang, Carl H Synderman, Paul A Gardner, Eric W Wang, Juan C Fernandez-Miranda
BACKGROUND: The maxillary nerve (V2) can be approached via the open middle fossa approach. OBJECTIVE: To delineate the anatomy of V2 and its specific segments with respect to the endonasal landmarks. We present the endoscopic endonasal interdural middle fossa approach to V2 and its potential application for the treatment of perineural spread in sinonasal/skull base tumors. METHODS: Five human head silicon-injected specimens underwent bilateral endoscopic endonasal transpterygoid approaches...
August 1, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/28828180/multi-level-spine-endoscopy-a-review-of-available-evidence-and-case-report
#20
Scott D Middleton, Ralf Wagner, J N Alastair Gibson
In the last ten years, there has been an exponential increase in endoscopic spinal surgery practice.With improvements in equipment quality and the availability of high definition camera systems, cervical endoscopic disc resection is now a viable alternative to anterior cervical decompression and fusion (ACDF) or disc arthroplasty for the treatment of disc prolapse and low grade stenosis.Based on the current literature, there is now strong evidence to support the use of transforaminal endoscopic approaches for the treatment of thoracic disc prolapse...
July 2017: EFORT open reviews
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