keyword
MENU ▼
Read by QxMD icon Read
search

lateral recess

keyword
https://www.readbyqxmd.com/read/28748224/utility-of-genetic-testing-for-confirmation-of-abnormal-newborn-screening-in-disorders-of-long-chain-fatty-acids-a-missed-case-of-carnitine-palmitoyltransferase-1a-cpt1a-deficiency
#1
Leah Dowsett, Lauren Lulis, Can Ficicioglu, Sanmati Cuddapah
An 18-month-old male was evaluated after presenting with disproportionately elevated liver transaminases in the setting of acute gastroenteritis. He had marked hepatomegaly on physical exam that was later confirmed with an abdominal ultrasound. Given this clinical picture, suspicion for a fatty acid oxidation disorder was raised. Further investigation revealed that his initial newborn screen was positive for carnitine palmitoyltransferase 1A (CPT1A) deficiency-a rare autosomal recessive disorder of long-chain fatty acid oxidation...
June 2017: International Journal of Neonatal Screening
https://www.readbyqxmd.com/read/28747275/classifying-glenohumeral-synovitis-a-novel-intraoperative-scoring-system
#2
Daniel E Davis, Mitchell Maltenfort, Joseph A Abboud, Charles Getz
BACKGROUND: Synovitis of the shoulder is a common entity that is poorly described. This study aims to create a simple and reliable classification system for glenohumeral synovitis, which would benefit further research related to synovitis and outcomes. METHODS: Twenty 30-second shoulder arthroscopy videos were distributed to 19 fellowship-trained orthopedic surgeons. The observers responded with their years in practice, fellowship type, whether synovitis affects outcomes, and whether synovitis affects plans...
July 24, 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/28740838/a-rare-case-of-centronuclear-myopathy-with-dnm2-mutation-genotype-phenotype-correlation
#3
REVIEW
Amir Ghorbani Aghbolaghi, Mirna Lechpammer
Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. The most common forms of CNM have been attributed to X-linked recessive mutations in the MTM1 gene; autosomal-dominant mutations in the DNM2 gene-encoding dynamin-2, the BIN1 gene; and autosomal-recessive mutations in BIN1, RYR1, and TTN genes. Dominant CNM due to DNM2 mutations usually follows a mild clinical course with the onset in adolescence. Currently, around 35 mutations of the DNM2 gene have been identified in CNM; however, the underlying molecular mechanism of DNM2 mutation in the pathology of CNM remains elusive, and the standard clinical characteristics have not yet been defined...
April 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28735130/bony-lateral-recess-stenosis-and-other-radiographic-predictors-of-failed-indirect-decompression-via-extreme-lateral-interbody-fusion-xlif-multi-institutional-analysis-of-101-consecutive-spinal-levels
#4
Timothy Y Wang, Gautam Nayar, Christopher Brown, Luiz Pimenta, Isaac O Karikari, Robert E Isaacs
No abstract text is available yet for this article.
July 19, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28730116/factors-affecting-residual-exotropia-after-two-muscle-surgery-for-intermittent-exotropia
#5
Shailja Tibrewal, Nishtha Singh, Marazul Islam Bhuiyan, Suma Ganesh
AIM: To study the factors affecting residual exotropia (>10 PD) at 4-6wk postoperative visit following two rectus muscle surgery for intermittent exotropia [bilateral lateral rectus (LR) recession or unilateral recess resect procedure]. METHODS: A retrospective chart review of patients with intermittent exotropia ≤50 PD who underwent two rectus muscle surgery in between Jan. 2011 to Dec. 2013 was performed. Possible factors were compared between patients with residual exotropia (>10 PD) and successful outcome (within 10 PD of orthotropia) at the 4-6wk postoperative visit...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28728290/-advances-in-research-of-divergence-insufficiency
#6
Y P Li, W Zhang
Divergence insufficiency is acquired esotropia at distance fixation with symptomatic uncrossed diplopia but fusion at near. It can be divided into two forms: primary isolated form and secondary form associated with neurologic abnormalities, also called divergence palsy. The clinical features of divergence insufficiency include small esotropia only at distance but orthotropia or small esophoria at near, comitant deviation at lateral gaze, reduced divergence fusion, full abduction and normal saccadic velocities in abduction...
July 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28724819/stability-and-effects-of-muscle-transplantation-for-very-large-angle-esotropia-a-study-of-22-patients
#7
Jitendra Nenumal Jethani, Nirzari Shah, Sonal Amin, Monika Jethani
PURPOSE: A very large angle esotropia is characterized by an angle more than 80 prism diopters (pd). A single eye surgery would not correct such a large angle. Supramaximal recessions and resection would lead to restriction of ocular motility. We present a series of 22 patients with large angle esotropia treated with muscle transplantation. METHODS: A total of 22 patients (14 males and 8 females) were included in the study. All the patients had a minimum of 80 base out deviation in primary position...
July 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28724572/a-new-case-of-congenital-malabsorptive-diarrhea-and-diabetes-secondary-to-mutant-neurogenin-3
#8
Marta Germán-Díaz, Yolanda Rodriguez-Gil, Jaime Cruz-Rojo, Fabienne Charbit-Henrion, Nadine Cerf-Bensussan, Javier Manzanares-López Manzanares, José Manuel Moreno-Villares
Congenital diarrheal disorders are a group of rare enteropathies that often present with life-threatening diarrhea in the first weeks of life. Enteric anendocrinosis, characterized by a lack of intestinal enteroendocrine cells due to recessively inherited mutations in the Neurogenin-3 (NEUROG3) gene, has been described as a cause of congenital malabsorptive diarrhea. Diabetes mellitus also is typically associated with NEUROG3 mutations, be it early onset or a later presentation. Here we report a case of a 16-year-old male patient with severe malabsorptive diarrhea from birth, who was parenteral nutrition dependent and who developed diabetes mellitus at 11 years old...
July 19, 2017: Pediatrics
https://www.readbyqxmd.com/read/28719718/cochlear-implant-electrode-array-exposure-a-delayed-complication
#9
Christina Mishu, David A Klodd, Miriam Redleaf
Exposure of the cochlear implant electrode array as a late complication has been reported rarely in the literature. A retrospective analysis revealed 4 patients presenting with exposure of their cochlear implant electrode arrays from 2 to 17 years after implantation. Data collected from these 4 patients were surgical implantation approach, type of implant, age at implant, interval between implant and complication, surgical correction of the problem, pathology at the time of correction, and length of follow-up after intervention...
July 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28717664/genetic-variation-spectrum-in-atp7b-gene-identified-in-latvian-patients-with-wilson-disease
#10
Agnese Zarina, Ieva Tolmane, Madara Kreile, Aleksandrs Chernushenko, Gunta Cernevska, Ieva Pukite, Ieva Micule, Zita Krumina, Astrida Krumina, Baiba Rozentale, Linda Piekuse
BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by allelic variants in ATP7B gene. More than 500 distinct variants have been reported, the most common WD causing allelic variant in the patients from Central, Eastern, and Northern Europe is H1069Q. METHODS: All Latvian patients with clinically confirmed WD were screened for the most common mutation p.H1069Q by PCR Bi-PASA method. Direct DNA sequencing of gene ATP7B (all 21 exons) was performed for the patients with WD symptoms, being either heterozygous for H1069Q or without it on any allele...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28716501/high-incidence-of-recess-formation-at-myopectineal-orifice-during-laparoscopic-surgery
#11
Yuka Mine, Fumihiko Fujita, Hiroko Kinoe, Yousuke Inoue, Kosyo Yamanouchi, Kengo Kanetaka, Kazuma Kobayashi, Mitsuhisa Takatsuki, Susumu Eguchi
BACKGROUND: Groin hernias are frequently seen in clinical practice. The purpose of this study was to determine the rate of patients who might have latent groin hernia. METHODS: During laparoscopic abdominal surgery, we observed the area around the groin lesion and attempted to evaluate the degree of recess at myopectineal orifice. The classification defining the recess was as follows: Grade 0: no recess, Grade I: slight recess with a visible bottom, Grade II: deep recess with an invisible bottom, Grade III: other organ invaginated into the recess, and Grade IV: confirmed bulging on the body surface...
July 14, 2017: Asian Journal of Surgery
https://www.readbyqxmd.com/read/28716012/case-reports-of-juvenile-gm1-gangliosidosisis-type-ii-caused-by-mutation-in-glb1-gene
#12
Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo, Mohammad Ali Faghihi
BACKGROUND: Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly. The disease is characterized by slowly progressive neurodegeneration and mild skeletal changes. Due to the later age of onset and uncharacteristic presentation, diagnosis is frequently puzzled with other ataxic and purely neurological disorders. Up to now, 3-4 types of GM1-gangliosidosis have been reported and among them type I is the most common phenotype with the age of onset around 6 months...
July 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28711580/lateral-rectus-muscle-resection-following-maximal-recession-of-the-medial-rectus-muscle-in-thyroid-eye-disease
#13
Eric Weldy, Natalie C Kerr
BACKGROUND: Rectus muscle restriction is a common finding in thyroid eye disease (TED). Typically, restricted muscles are recessed to address strabismus and diplopia. However, some patients have residual strabismus following maximal recession of a restricted muscle. The purpose of this study was to report outcomes following resection of the lateral rectus muscle after maximal recession of the medial rectus muscle in patients with TED. METHODS: The medical records of patients with TED who underwent lateral rectus resection between 1998 and 2015 were reviewed retrospectively...
July 12, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28704909/tophaceous-gout-in-the-lumbar-spinal-canal-mimicking-epidural-spinal-tumor
#14
Taeshin Kim, Bum-Joon Kim, Se-Hoon Kim, Seung-Hwan Lee
Gout is an inflammatory arthritis characterized by deposition of monosodium urate crystals in joints. Though gout frequently involves the big toe or other extremities, it rarely occurs in the spinal canal. A 35-year-old man presented with left L5 radiculopathy. He had leg pain for 8 months and received several epidural steroid injections. Magnetic resonance imaging revealed a 1.7×1.1-cm ovoid contrast-enhancing mass, causing pressure erosion of the left L5 pedicle. Microscopic laminotomy was performed at the left L5 lamina...
June 2017: Korean Journal of Spine
https://www.readbyqxmd.com/read/28697823/-clinical-feature-and-genetic-analysis-of-a-family-affected-by-congenital-bile-acid-synthesis-defect-type-2-identification-of-2-novel-mutations-in-akr1d1-gene
#15
Ying Cheng, Li Guo, Mei Deng, Yuan-Zong Song
Congenital bile acid synthesis defect type 2 (CBAS2) is an autosomal recessive disorder caused by biallelic mutations of AKR1D1 gene, which encodes the Δ4-3-oxo-steroid 5β-reductase. Cholestatic jaundice is the main clinical manifestation, accompanied by malabsorption of fat and fat-soluble vitamins. This paper reported the clinical and genetic features of a CBAS2 patient definitely diagnosed by AKR1D1 genetic analysis. An 8-month-old male infant was referred to the hospital with the complaint of jaundiced skin and sclera over 7 months...
July 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28692503/acquired-adult-onset-cyclic-esotropia-in-patients-with-myopic-strabismus-fixus-and-intraocular-lens-implantation
#16
Jianhua Yan, Yun Wen
PURPOSE/BACKGROUND: Cyclic esotropia is a rare condition that mostly occurs in children, characterized by patterns of straight and strabismic days with a regular cycle of 24 to 96 hours. In this report, 2 patients of cyclic esotropia in adults who showed a regular 48-hour cycle of mild deviation on 1 day followed by a more severe deviation on the second day are presented. METHODS: Clinical reports, clinical features, imaging findings, and surgical outcomes are presented...
July 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28690952/targeted-radiofrequency-ablation-as-an-adjunct-in-treatment-of-lumbar-facet-cysts
#17
Jesse Hatgis, Michelle Granville, Aldo Berti, Robert E Jacobson
Lumbar facet cysts are frequently found in patients with facet degeneration and segmental instability. When the facet cyst is localized in the neural foramina and lateral recess or becomes large, it can cause radiculopathy or neurogenic claudication. These symptomatic cysts are typically treated interventionally with drainage and a corticosteroid injection or attempts via overinflation to rupture the cyst; however, these procedures have a significant recurrence rate (up to 50%) and often need to be repeated or lead to lumbar surgery if unsuccessful...
June 6, 2017: Curēus
https://www.readbyqxmd.com/read/28689307/long-term-follow-up-in-osteogenesis-imperfecta-type-vi
#18
P Trejo, T Palomo, K Montpetit, F Fassier, A Sato, F H Glorieux, F Rauch
This retrospective study on long-term outcomes in osteogenesis imperfecta type VI found that patients who received intravenous bisphosphonate treatment had an increase in lumbar spine areal bone mineral density, a higher final height z-score, and some reshaping of vertebral bodies. INTRODUCTION: Osteogenesis imperfecta (OI) type VI is an ultra-rare bone fragility disorder caused by recessive mutations in SERPINF1. Here, we describe long-term outcomes in OI type VI and compare the clinical phenotypes caused by different types of SERPINF1 mutations...
July 9, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28686963/long-term-health-consequences-of-recessions-during-working-years
#19
Liudmila Antonova, Tabea Bucher-Koenen, Fabrizio Mazzonna
Economic crises may have severe consequences for population health. We investigate the long-term effects of macroeconomic crises experienced during prime working age (20-50) on health outcomes later in life using SHARE data (Survey of Health Aging and Retirement in Europe) from eleven European countries. Analyses are based on the first two waves of SHARE data collected in 2004 and 2006 (N = 22,886) and retrospective life history data from SHARELIFE collected in 2008 (N = 13,732). Experiencing a severe crisis in which GDP dropped by at least 1% significantly reduces health later in life...
June 26, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28682015/comparison-of-long-term-surgical-outcomes-of-two-muscle-surgery-in-basic-type-intermittent-exotropia-bilateral-versus-unilateral
#20
Seung Pil Bang, Soon Young Cho, Se Youp Lee
PURPOSE: To compare long-term surgical outcomes after bilateral lateral rectus recession (BLR) and unilateral lateral rectus recession-medial rectus resection (RR) for the treatment of basic-type intermittent exotropia. METHODS: Consecutive patients who underwent BLR or RR for treatment of intermittent exotropia between 1999 and 2010 and underwent ≥5 years of follow-up were recruited for this study. Surgical outcomes were grouped according to postoperative angle of deviation: overcorrection (esophoria/tropia >8 prism diopters [Δ]), success (esophoria/tropia ≤8Δ to exophoria/tropia ≤8Δ), and undercorrection/recurrence (exophoria/tropia >8Δ)...
June 26, 2017: Korean Journal of Ophthalmology: KJO
keyword
keyword
104991
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"