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https://www.readbyqxmd.com/read/29134161/pneumatization-patterns-of-the-petrous-apex-and-lateral-sphenoid-recess
#1
Alexander Malone, Margherita Bruni, Robert Wong, Mark Tabor, K Paul Boyev
Introduction  The petrous apex poses a challenge for surgical intervention due to poor access. As intraoperative image guidance and surgical instrumentation improve, newer endoscopic approaches are increasingly favored. This study aims to provide normative data on the anatomy of the lateral sphenoid sinus recess and petrous apex. These normative data could assist in determining the efficacy of a transnasal transsphenoidal approach to lesions of the anteroinferior petrous apex. Methods  This is a retrospective study investigating normative data on all maxillofacial computed tomography (CT) scans performed at a level I trauma center over a 6-month period...
December 2017: Journal of Neurological Surgery. Part B, Skull Base
https://www.readbyqxmd.com/read/29133648/modified-adjustable-suture-hang-back-recession-description-of-technique-and-comparison-with-conventional-adjustable-hang-back-recession
#2
Siddharth Agrawal, Vinita Singh, Ankur Yadav, Sonal Bangwal, Vishal Katiyar
PURPOSE: This study aims to describe and compare modified hang-back recession with the conventional hang-back recession in large angle comitant exotropia (XT). METHODS: A prospective, interventional, double-blinded, randomized study on adult patients (>18 years) undergoing single eye recession-resection for large angle (>30 prism diopters) constant comitant XT was conducted between January 2011 and December 2015. Patients in Group A underwent modified hang-back lateral rectus recession with adjustable knot while in Group B underwent conventional hang-back recession with an adjustable knot...
November 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29128256/megf10-related-myopathies-a-new-case-with-adult-onset-disease-with-prominent-respiratory-failure-and-review-of-reported-phenotypes
#3
Elizabeth Harris, Chiara Marini-Bettolo, Ana Töpf, Rita Barresi, Tuomo Polvikovski, Geraldine Bailey, Richard Charlton, James Tellez, Daniel MacArthur, Michela Guglieri, Hanns Lochmüller, Kate Bushby, Volker Straub
Recessive mutations in MEGF10 (multiple epidermal growth factor 10) have been reported in a severe early onset disorder named Early Myopathy, Areflexia, Respiratory Distress and Dysphagia, and a milder form with cores in the muscle biopsy; and a possible genotype-phenotype correlation determining the clinical presentation has been suggested. We undertook exome sequencing in a 66 year old male with a 20 year history of progressive proximal and distal weakness of upper and lower limbs, facial weakness and dysphagia, who developed respiratory failure requiring ventilation while still ambulant in his 50s...
October 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29128155/motor-neuron-disease-in-inherited-neurometabolic-disorders
#4
REVIEW
P Victor Sgobbi de Souza, T Bortholin, F George Monteiro Naylor, M Antônio Troccoli Chieia, W Bocca Vieira de Rezende Pinto, A Souza Bulle Oliveira
Inherited neurometabolic disorders represent a growing group of inborn errors of metabolism that present with major neurological symptoms or a complex spectrum of symptoms dominated by central or peripheral nervous system dysfunction. Many neurological presentations may arise from the same metabolic defect, especially in autosomal-recessive inherited disorders. Motor neuron disease (MND), mainly represented by amyotrophic lateral sclerosis, may also result from various inborn errors of metabolism, some of which may represent potentially treatable conditions, thereby emphasizing the importance of recognizing such diseases...
November 8, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/29122317/sonographic-and-anatomic-description-of-the-subtalar-joint
#5
Peter Mandl, David Bong, Peter V Balint, Hilde Berner Hammer, Maribel Miguel, Esperanza Naredo, Lene Terslev, Ingrid Möller
Our study provides a detailed anatomic and sonographic description of the subtalar joint, a single joint that, anatomically, is divided into the anterior subtalar joint (ASTJ) and the posterior subtalar joint (PSTJ). Cadaver specimens of the ankle and foot were examined in detail by ultrasound (US), and the subtalar joints of all the specimens were injected with colored latex of a contrasting color under US guidance. Compatible with other studies, examination of the sections revealed lack of communication between the ASTJ and the PSTJ and communication between the PSTJ and the posterior recess of the tibiotalar joint...
November 6, 2017: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/29102674/protective-effects-of-biodegradable-collagen-implants-on-thinned-sclera-after-strabismus-surgery-a-paired-eye-study
#6
Tae Keun Yoo, Sueng-Han Han, Jinu Han
PURPOSE: To determine the efficacy of a biodegradable Ologen (Aeon Astron Europe BV, Leiden, The Netherlands) collagen matrix in reducing the blue color change due to exposed thinned sclera after strabismus surgery. METHODS: Fourteen patients with intermittent exotropia undergoing symmetric bilateral lateral rectus recession surgery were included in this prospective, randomized, paired-eye controlled study. In each patient, Ologen was implanted at the original rectus insertion site in one randomly selected eye; the other eye underwent conventional surgery...
November 1, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29082047/protein-c-deficiency-caused-by-a-novel-mutation-in-the-proc-gene-in-an-infant-with-delayed-onset-purpura-fulminans
#7
Mariam S Al Harbi, Ayman W El-Hattab
Protein C is an anticoagulant that is encoded by the PROC gene. Protein C deficiency (PCD) is inherited in an autosomal dominant or recessive pattern. Autosomal dominant PCD is caused by monoallelic mutations in PROC and often presents with venous thromboembolism. On the other hand, biallelic PROC mutations lead to autosomal recessive PCD which is a more severe disease that typically presents in neonates as purpura fulminans. In this report, we describe an 8-month-old infant with autosomal recessive PCD who presented with multiple lumps on his lower extremities at the age of 2 months and later developed purpura fulminans after obtaining a muscle biopsy from the thigh at the age of 5 months...
2017: Case Reports in Dermatological Medicine
https://www.readbyqxmd.com/read/29079714/tocilizumab-for-the-treatment-of-slc29a3-mutation-positive-phid-syndrome
#8
Nadia K Rafiq, Khalid Hussain, Paul A Brogan
Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) is associated with recessive mutations in SLC29A3, encoding the equilibrative nucleoside transporter hENT3 expressed in mitochondria, causing PHID and H syndromes, familial Rosai-Dorfman disease, and histiocytosis-lymphadenopathy-plus syndrome. Autoinflammation is increasingly recognized in these syndromes. We previously reported a 16-year-old girl with PHID syndrome associated with severe autoinflammation that was recalcitrant to interleukin-1 and tumor necrosis factor-α blockade...
November 2017: Pediatrics
https://www.readbyqxmd.com/read/29077868/chicken-toes-like-leaf-and-petalody-flower-ctp-is-a-novel-regulator-that-controls-leaf-and-flower-development-in-soybean
#9
Jing Zhao, Lei Chen, Tuanjie Zhao, Junyi Gai, Peter Bozhkov
A soybean mutant displaying chicken toes-like leaves and petalody flowers was identified as being caused by a single recessive gene, termed ctp. Using heterozygous-inbred recombinants, this gene was fine-mapped to a 37-kb region harbouring three predicted genes on chromosome 5. The gene Glyma05g022400.1 was detected to have a 33-bp deletion in its first exon that was responsible for ctp. Validation for this gene was provided by the fact that the 33-bp deletion-derived marker I2 completely co-segregated with the phenotypes of 96 F10-derived residual heterozygous lines and 2200 fine-mapping individuals, and by the fact that the orthologue NbCTP in Nicotiana benthamiana also influenced leaf and flower development under virus-induced gene silencing...
October 25, 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/29077187/surgical-outcomes-according-to-distance-between-preplaced-suture-and-muscle-insertion-in-lateral-rectus-recession
#10
Ki W Jin, Yoon P Lee, Dong G Choi
PURPOSE: To compare surgical outcomes according to the distance between the preplaced suture and the muscle insertion in lateral rectus (LR) recession for exotropia. METHODS: We retrospectively reviewed 64 patients who had undergone unilateral LR recession by one right-handed surgeon and divided the patients into 2 groups: right LR recession (R group, 26 patients) and left LR recession (L group, 38 patients). In the R group, the preplaced suture was behind the hook, far from the insertion; in the L group, the suture was in front of the hook, near the insertion...
October 14, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/29077181/comparison-of-adjustable-sutures-versus-nonadjustable-sutures-in-intermittent-exotropia
#11
Kamlesh Kamlesh, Suresh Babu, Yashpal Goel, Rupak Brahma Chaudhary, Anju Rastogi, Richa Agarwal, Shweta Dhiman, Prateek Kumar, Ankita Bharadwaj
PURPOSE: To compare adjustable sutures versus nonadjustable sutures for intermittent exotropia. METHODS: In this randomized prospective interventional study, 40 adult patients with intermittent exotropia were randomly divided into 2 equal groups. Both groups underwent bilateral lateral rectus recession. In group A, adjustable suture recession was performed, and in group B, nonadjustable suture recession was performed. Patients were followed up for 6 months and outcome measures were residual deviation, binocular status, and need for resurgery...
October 17, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/29072215/modified-lateral-positioned-flap-with-platelet-rich-fibrin-graft-for-treatment-of-denuded-root-surfaces-a-clinical-study
#12
Abhishek Ashok Kurdukar, Priyanka Abhishek Kurdukar, Nitin Hemchandra Dani
BACKGROUND: Root coverage (RC) procedures such as lateral positioned flap (LPF) have been used since long time but with limited success and specific indications. AIM: This prospective clinical study was designed to evaluate clinically the effect of modified LPF (mLPF) with platelet-rich fibrin (PRF) graft for the treatment of denuded root surfaces. MATERIALS AND METHODS: Fifteen isolated Miller's Class I and II gingival recession of single-rooted teeth were selected for the study...
September 2017: Indian Journal of Dental Research: Official Publication of Indian Society for Dental Research
https://www.readbyqxmd.com/read/29067654/cardiac-involvement-in-duchenne-muscular-dystrophy-and-related-dystrophinopathies
#13
Sophie I Mavrogeni, George Markousis-Mavrogenis, Antigoni Papavasiliou, George Papadopoulos, Genovefa Kolovou
Dystrophinopathies include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XLCM), and facioscapulohumeral muscular dystrophy (FSHD). DMD/BMD are X-linked recessive disorders, related to the synthesis of dystrophin. Most of DMD after the third decade of their age develop cardiomyopathy that remains silent, due to relative physical inactivity. Cardiac disease in female carriers presents with hypertrophy, arrhythmias or dilated cardiomyopathy, clinically overt by increasing age...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29045182/validity-of-radiograph-based-infrapatellar-fat-pad-opacity-grading-for-assessing-knee-synovitis-correlation-with-contrast-enhanced-mri
#14
Seong Jong Yun, Youngsik Lim, Wook Jin, Yong Sung Park, Sun Hwa Lee, Kyung Nam Ryu
OBJECTIVE: The purpose of this study was to determine the validity of infrapatellar fat pad (IPFP) opacity grading based on lateral knee radiography for assessing knee synovitis using correlation with contrast-enhanced (CE) MRI. MATERIALS AND METHODS: Retrospective reviews of radiographs and CE knee MR images from 79 patients were independently performed by two radiologists. They evaluated IPFP opacity alteration (IPFPCR) and joint effusion (EFFCR) grades on lateral knee conventional radiographs, IPFP signal intensity alteration (IPFPMR) and joint effusion (EFFMR) grades on CE MR images, and synovitis (SYNMR) grade in nine divided regions, three compartments (parapatellar, periligamentous, perimeniscal), and the whole knee on CE MR images...
October 18, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/29037169/left-ventricular-non-compaction-cardiomyopathy-with-coronary-artery-anomaly-complicated-by-ventricular-tachycardia
#15
Gustav Mattsson, Abdullah Baroudi, Hoshmand Tawfiq, Peter Magnusson
BACKGROUND: Non-compaction cardiomyopathy (NCCM) is characterized by prominent trabeculations, deep intertrabecular recesses, and a thick non-compacted endocardial myocardium. Prevalence in the general population remains unclear, but echocardiography series report 0.05%. During fetal development muscle fibers and trabeculae should compact into a solid myocardium and when this fails, NCCM occurs. The condition is genetic, even though acquired forms have been described. Worsening myocardial dysfunction may lead to heart failure and/or arrhythmias...
October 16, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/29026936/a-comparative-study-of-full-thickness-blepharotomy-versus-transconjunctival-eyelid-lengthening-in-the-correction-of-upper-eyelid-retraction-in-graves-orbitopathy
#16
Allan C Pieroni Gonçalves, Thiago Nogueira, Ana Carolina Arato Gonçalves, Luzia Diegues Silva, Suzana Matayoshi, Mário L R Monteiro
BACKGROUND: The study was designed to compare the outcome of full-thickness blepharotomy and transconjunctival eyelid lengthening in the correction of upper eyelid retraction (UER) in patients with Graves' orbitopathy (GO). METHODS: This is a prospective randomized interventional study. Following ophthalmic examination, determination of the ocular surface disease index (OSDI) and photography, 27 patients with UER were randomly assigned to either graded full-thickness blepharotomy (G1) or transconjunctival Müller muscle recession and graded disinsertion of the levator palpebrae superioris muscle (G2)...
October 12, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/29024762/a-paired-comparison-study-on-refractive-changes-after-strabismus-surgery
#17
Ari Leshno, Daphna Mezad-Koursh, Tomer Ziv-Baran, Chaim Stolovitch
PURPOSE: To quantify refractive changes following horizontal lateral rectus recession and medial rectus resection surgery and to investigate the causes of these changes. METHODS: The medical records of patients who underwent unilateral horizontal lateral rectus recession and medial rectus resection for exotropia by a single surgeon over a period of 14 years were reviewed retrospectively. Using vector analysis, refractive changes in operated eyes (cases) were compared to changes in the sound eyes (controls)...
October 9, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29018765/surgical-results-for-consecutive-exotropia
#18
Chih-Yao Chang, Muh-Chiou Lin
PURPOSE: To evaluate the surgical results of medial rectus (MR) muscle advancement with or without recession of the antagonist muscle for consecutive exotropia. METHODS: Medical records of patients with consecutive exotropia (n = 27) were retrospectively reviewed. All patients received one-eye surgery with MR advancement, lateral rectus (LR) recession, or combined surgery. The pre- and post-operative angle of deviation was recorded. Characteristics were compared between groups...
April 2017: Taiwan Journal of Ophthalmology
https://www.readbyqxmd.com/read/29018752/y-splitting-with-recession-of-lateral-rectus-versus-lateral-rectus-recession-in-correcting-upshoot-in-duane-retraction-syndrome
#19
Muh-Chiou Lin
PURPOSE: To report the surgical effect in upshoot of Duane retraction syndrome (DRS) with corecession of horizontal rectus muscles with or without Y-splitting. PATIENTS AND METHODS: A retrospective chart review of six patients of DRS received muscle surgeries for upshoot in adducted position was performed. RESULTS: From 1994 to 2010, six Duane patients received muscle surgeries for upshoots of lesion eye in adduction. Their age of receiving surgery ranged from 5 to 41 years...
January 2017: Taiwan Journal of Ophthalmology
https://www.readbyqxmd.com/read/29018654/double-crush-of-l5-spinal-nerve-root-due-to-l4-5-lateral-recess-stenosis-and-bony-spur-formation-of-lumbosacral-transitional-vertebra-pseudoarticulation-a-case-report-and-review
#20
Motoyuki Iwasaki, Masahiko Akiyama, Izumi Koyanagi, Yoshimasa Niiya, Tatsuo Ihara, Kiyohiro Houkin
We present a case of double-crushed L5 nerve root symptoms caused by inside and outside of the spinal canal with spur formation of the lumbosacral transitional vertebra (LSTV). A 78-year-old man presented with 7-year history of moderate paresis of his toe and left leg pain when walking. Magnetic resonance imaging (MRI) revealed spinal stenosis at the L3/4 and 4/5 spinal levels and he underwent wide fenestration of both levels. Leg pain disappeared and 6-min walk distance (6MWD) improved after surgery, however, the numbness in his toes increased and 6MWD decreased 9 months after surgery...
October 2017: NMC Case Rep J
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