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Lattice dystrophy

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https://www.readbyqxmd.com/read/29705009/cataract-surgery-after-deep-anterior-lamellar-keratoplasty-and-penetrating-keratoplasty-in-age-and-disease-matched-eyes
#1
Seika Den, Shigeto Shimmura, Jun Shimazaki
PURPOSE: To assess the efficacy and safety of cataract surgery after deep anterior lamellar keratoplasty (DALK) and penetrating keratoplasty (PKP). SETTING: Tokyo Dental College Ichikawa General Hospital, Chiba, Japan. DESIGN: Retrospective case series. METHODS: Age-matched and disease-matched eyes that had phacoemulsification and intraocular lens insertion after DALK or PKP were studied. Graft clarity was assessed at the final follow-up...
April 25, 2018: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/29676313/deep-anterior-lamellar-keratoplasty-or-penetrating-keratoplasty-in-lattice-corneal-dystrophy
#2
Ritu Arora
No abstract text is available yet for this article.
May 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29676312/outcomes-of-keratoplasty-in-lattice-corneal-dystrophy-in-a-large-cohort-of-indian-eyes
#3
Ashik Mohamed, Sunita Chaurasia, Muralidhar Ramappa, Somasheila I Murthy, Prashant Garg
Purpose: The purpose of this study is to evaluate the outcomes of keratoplasty for lattice corneal dystrophy (LCD) performed at a tertiary eye care center. Methods: A retrospective review of medical records of those patients who were clinically diagnosed to have LCD (72 eyes of 57 patients) and underwent either penetrating keratoplasty (PK, 58 eyes of 46 patients) or deep anterior lamellar keratoplasty (DALK, 14 eyes of 13 patients) between the years 1987 and 2014 was performed...
May 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29649838/-limbokeratoplasty-to-treat-lattice-and-granular-corneal-dystrophies
#4
Thabo Lapp, Philip Maier, Daniel Böhringer, Thomas Reinhard
The surgical technique of limbokeratoplasty (limbo-KP) was initially established for the treatment of severe limbal deficiencies. Besides improving visual acuity, surgery is aimed at ensuring complete, long-lasting epithelialization of the ocular surface. Due to the extension of the indication spectrum, limbo-KPs are also used in various forms of epithelial/stromal corneal dystrophies such as lattice and granular (transforming growth factor beta-induced [TGFBI] gene mutation associated) dystrophies. The objective of limbo-KP is to ensure prolonged clear graft survival without a recurrence of the dystrophy as otherwise observed after conventional keratoplasty...
April 12, 2018: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29618008/variable-rescue-of-microtubule-and-physiological-phenotypes-in-mdx-muscle-expressing-different-miniaturized-dystrophins
#5
D'anna M Nelson, Angus Lindsay, Luke M Judge, Dongsheng Duan, Jeffrey S Chamberlain, Dawn A Lowe, James M Ervasti
Delivery of miniaturized dystrophin genes via adeno-associated viral vectors is one leading approach in development to treat Duchenne muscular dystrophy. Here we directly compared the functionality of five mini- and micro-dystrophins via skeletal muscle-specific transgenic expression in dystrophin-deficient mdx mice. We evaluated their ability to rescue defects in the microtubule network, passive stiffness, and contractility of skeletal muscle. Transgenic mdx mice expressing the short dystrophin isoform Dp116 served as a negative control...
March 28, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29599423/atypical-presentation-of-gelsolin-amyloidosis-in-a-man-of-african-descent-with-a-novel-mutation-in-the-gelsolin-gene
#6
Karlos Z Oregel, Geoffrey P Shouse, Cyrus Oster, Freddy Martinez, Jun Wang, Michael Rosenzweig, Jeremy K Deisch, Chien-Shing Chen, Gayathri Nagaraj
BACKGROUND Gelsolin amyloidosis is a very rare systemic disease presenting with a pathognomonic triad of corneal lattice dystrophy, cutis laxa, and polyneuropathy. The disease is mostly restricted to a Finnish population with known mutations (G654A, G654T) in exon 4 of the gelsolin gene. The mutations lead to errors in protein processing and folding, and ultimately leads to deposition of an amyloidogenic fragment in the extracellular space, causing the symptoms of disease. CASE REPORT We present a case of gelsolin amyloidosis in a male of African descent with an atypical clinical presentation including fevers, skin rash, polyneuropathy, and anemia...
March 30, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29595762/transplantation-blues-inadvertent-staining-of-amyloid-deposits-with-trypan-blue
#7
Agathe Marcon, Nicolas Périllat, Thibaud Garcin, Rémy Jullienne, Zhiguo He, Fabien Forest, Anne Sophie Gauthier, Philippe Gain, Gilles Thuret
PURPOSE: To describe inadvertent persistent staining of stromal amyloid deposits by trypan blue (TB) after penetrating keratoplasty (PK) and Descemet membrane endothelial keratoplasty (DMEK) performed in patients with corneal amyloidosis. METHODS: Case series of patients with corneal amyloidosis in whom intraoperative TB was used. RESULTS: One patient, hospitalized for acute rejection 6 weeks after DMEK, presented with an intense blue staining of small, spindle-shaped structures in the anterior half of the cornea...
March 27, 2018: Cornea
https://www.readbyqxmd.com/read/29549040/lamins-and-lamin-associated-proteins-in-gastrointestinal-health-and-disease
#8
REVIEW
Graham F Brady, Raymond Kwan, Juliana Bragazzi Cunha, Jared S Elenbaas, M Bishr Omary
The nuclear lamina is a multi-protein lattice composed of A- and B-type lamins and their associated proteins. This protein lattice associates with heterochromatin and integral inner nuclear membrane proteins, providing links among the genome, nucleoskeleton, and cytoskeleton. In the 1990s, mutations in EMD and LMNA were linked to Emery-Dreifuss muscular dystrophy. Since then, the number of diseases attributed to nuclear lamina defects, including laminopathies and other disorders, has increased to include more than 20 distinct genetic syndromes...
May 2018: Gastroenterology
https://www.readbyqxmd.com/read/29524512/corneal-dystrophy-mutations-drive-pathogenesis-by-targeting-tgfbip-stability-and-solubility-in-a-latent-amyloid-forming-domain
#9
Marcel Stenvang, Nicholas P Schafer, Kirsten Gade Malmos, Adriana-Michelle Wolf Pérez, Olatz Niembro, Pietro Sormanni, Rajiv Vaid Basaiawmoit, Gunna Christiansen, Maria Andreasen, Daniel E Otzen
Numerous mutations in the corneal protein TGFBIp lead to opaque extracellular deposits and corneal dystrophies (CDs). Here we elucidate the molecular origins underlying TGFBIp's mutation-induced increase in aggregation propensity through comprehensive biophysical and bioinformatic analyses of mutations associated with every major subtype of TGFBIp-linked CDs including lattice corneal dystrophy (LCD) and three subtypes of granular corneal dystrophy (GCD 1-3). LCD mutations at buried positions in the C-terminal Fas1-4 domain lead to decreased stability...
April 13, 2018: Journal of Molecular Biology
https://www.readbyqxmd.com/read/29275006/altered-myofilament-structure-and-function-in-dogs-with-duchenne-muscular-dystrophy-cardiomyopathy
#10
Younss Ait Mou, Alain Lacampagne, Thomas Irving, Valérie Scheuermann, Stéphane Blot, Bijan Ghaleh, Pieter P de Tombe, Olivier Cazorla
AIM: Duchenne Muscular Dystrophy (DMD) is associated with progressive depressed left ventricular (LV) function. However, DMD effects on myofilament structure and function are poorly understood. Golden Retriever Muscular Dystrophy (GRMD) is a dog model of DMD recapitulating the human form of DMD. OBJECTIVE: The objective of this study is to evaluate myofilament structure and function alterations in GRMD model with spontaneous cardiac failure. METHODS AND RESULTS: We have employed synchrotron X-rays diffraction to evaluate myofilament lattice spacing at various sarcomere lengths (SL) on permeabilized LV myocardium...
January 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29233738/prevalence-of-transforming-growth-factor-%C3%AE-induced-gene-corneal-dystrophies-in-chinese-refractive-surgery-candidates
#11
Yanzheng Song, Mingshen Sun, Ningli Wang, Xingtao Zhou, Jing Zhao, Qinmei Wang, Shihao Chen, Yingping Deng, Lemei Qiu, Yueguo Chen, Anthony J Aldave, Fengju Zhang
PURPOSE: To determine the prevalence of the transforming growth factor (TGF) β-induced gene corneal dystrophies in refractive surgery candidates in China. SETTING: Five hospitals in China. DESIGN: Prospective case series. METHOD: Refractive surgical candidates from 5 preselected eye hospitals/centers in China were recruited after providing informed consent. All patients had slitlamp biomicroscopy and collection of a buccal swab as a source of DNA for screening of the TGF β-induced gene for the 5 most common mutations associated with Reis-Bückler corneal dystrophy, Thiel-Behnke corneal dystrophy, granular corneal dystrophy type 1, granular corneal dystrophy type 2, and lattice corneal dystrophy type 1...
December 2017: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/29022958/unilateral-lattice-corneal-dystrophy-in-a-young-female-a-unique-case-report
#12
Anuradha Raj, Renu Dhasmana, Harsh Bahadur
BACKGROUND: Unilateral lattice corneal dystrophy is a rare entity. OBJECTIVE: To highlight the evidence of unilateral lattice corneal dystrophy in a young female. CASE: A young 28 years old female presented to the outpatient department of Ophthalmology with slowly progressive diminution of vision in left eye for one month. On ophthalmological examination best corrected visual acuity (BCVA) was 20/20 and 20/40 with refractive error of plano and -0...
January 2017: Nepalese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28739480/the-changing-face-of-aging-highly-sulfated-glycosaminoglycans-induce-amyloid-formation-in-a-lattice-corneal-dystrophy-model-protein
#13
Kirsten G Malmos, Marcel Stenvang, Cagla Sahin, Gunna Christiansen, Daniel E Otzen
Glycosaminoglycans (GAGs) are related to multiple biological functions and diseases. There is growing evidence that GAG concentration and sulfate content increase with age. The destabilizing mutation A546T in the corneal protein TGFBIp leads to lattice-type corneal dystrophy, but symptoms only appear in the fourth decade of life. We hypothesize that this delayed phenotype can be explained by increased GAG sulfation over time. Using in vitro assays with the C-terminal TGFIBIp domain Fas1-4, previously shown to recapitulate many properties of full-length TGFBIp, we find that only long GAGs with multiple sulfate groups on each repeating unit increase the amount of worm-like aggregates and induce long, straight fibrils in A546T...
September 1, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/28689406/proteomic-analysis-of-amyloid-corneal-aggregates-from-tgfbi-h626r-lattice-corneal-dystrophy-patient-implicates-serine-protease-htra1-in-mutation-specific-pathogenesis-of-tgfbip
#14
Anandalakshmi Venkatraman, Bamaprasad Dutta, Elavazhagan Murugan, Hao Piliang, Rajamani Lakshminaryanan, Anita Chan Sook Yee, Konstantin V Pervushin, Siu Kwan Sze, Jodhbir S Mehta
TGFBI-associated corneal dystrophies are inherited disorders caused by TGFBI gene variants that promote deposition of mutant protein (TGFBIp) as insoluble aggregates in the cornea. Depending on the type and position of amino acid substitution, the aggregates may be amyloid fibrillar, amorphous globular or both, but the molecular mechanisms that drive these different patterns of aggregation are not fully understood. In the current study, we report the protein composition of amyloid corneal aggregates from lattice corneal dystrophy patients of Asian origin with H626R and R124C mutation and compared it with healthy corneal tissues via LC-MS/MS...
July 20, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28611133/long-term-clinical-outcome-of-femtosecond-laser-assisted-lamellar-keratectomy-with-phototherapeutic-keratectomy-in-anterior-corneal-stromal-dystrophy
#15
Jonghyun Lee, Jin Hyoung Kim, Doh Lee, Ji Woong Chang, Joo Youn Shin, Ji Won Seo, Min Hwan Seo, Nam Ju Moon
PURPOSE: To evaluate long-term outcome of femtosecond laser-assisted lamellar keratectomy (FLK) with phototherapeutic keratectomy (PTK) in patients with anterior corneal stromal dystrophies. METHODS: A total of 10 eyes from seven patients who underwent FLK were included. The patients had suffered from recurrent corneal erosion or visual disturbance in anterior corneal dystrophies (five Avellino dystrophies and two lattice dystrophies). Planar-shaped lamellar keratectomy was performed using femtosecond laser...
January 2018: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28393022/two-mutations-in-the-transforming-growth-factor-beta-induced-gene-associated-with-familial-lattice-corneal-dystrophy
#16
Wen-Ping Cao, Hai-Gang Yuan, Ping Liu, Xue Li, Qi Hu
AIM: To report a phenotypic variant pedigree of lattice corneal dystrophy (LCD) associated with two mutations, R124C and A546D, in the transforming growth factor beta-induced gene (TGFBI). METHODS: A detailed ocular examination was taken for all participants of a LCD family. Peripheral blood leukocytes from each participant were extracted to obtain the DNA. Polymerase chain reaction (PCR) of all seventeen exons of TGFBI gene was performed. The products were sequenced and analyzed...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28381645/effect-of-position-specific-single-point-mutations-and-biophysical-characterization-of-amyloidogenic-peptide-fragments-identified-from-lattice-corneal-dystrophy-patients
#17
Venkatraman Anandalakshmi, Elavazhagan Murugan, Eunice Goh Tze Leng, Lim Wei Ting, Shyam S Chaurasia, Toshio Yamazaki, Toshio Nagashima, Benjamin Lawrence George, Gary Swee Lim Peh, Konstantin Pervushin, Rajamani Lakshminarayanan, Jodhbir S Mehta
Corneal stromal dystrophies are a group of genetic disorders that may be caused by mutations in the transforming growth factor β-induced ( TGFBI ) gene which results in the aggregation and deposition of mutant proteins in various layers of the cornea. The type of amino acid substitution dictates the age of onset, anatomical location of the deposits, morphological features of deposits (amyloid, amorphous powder or a mixture of both forms) and the severity of disease presentation. It has been suggested that abnormal turnover and aberrant proteolytic processing of the mutant proteins result in the accumulation of insoluble protein deposits...
May 9, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28358433/tgfbi-gene-mutations-analysis-in-chinese-families-with-corneal-dystrophies
#18
Xiaojuan Wang, Ming Ying, Changbo Fu, Yuchuan Wang, Ningdong Li
The aim of the present study was to examine the clinical features of three Chinese families with autosomal dominant corneal dystrophy (CD) and examine transforming growth factor‑β‑induced (TGFBI) gene mutations in these families. The TGFBI gene mutations were detected using direct sequencing of the whole coding regions and exon-intron boundaries of the TGFBI gene in the affected members from the three families with CD. The phenotypes of all affected individuals in the three families were observed via slit lamp examination...
May 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28250773/meretoja-s-syndrome-lattice-corneal-dystrophy-gelsolin-type
#19
I Casal, S Monteiro, C Abreu, M Neves, L Oliveira, M Beirão
Lattice corneal dystrophy gelsolin type was first described in 1969 by Jouko Meretoja, a Finnish ophthalmologist. It is caused by an autosomal dominant mutation in gelsolin gene resulting in unstable protein fragments and amyloid deposition in various organs. The age of onset is usually after the third decade of life and typical diagnostic triad includes progressive bilateral facial paralysis, loose skin, and lattice corneal dystrophy. We report a case of a 53-year-old female patient referred to our Department of Ophthalmology by severe dry eye and incomplete eyelid closure...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/27982499/hereditary-gelsolin-amyloidosis-hga-a-neglected-cause-of-bilateral-progressive-or-recurrent-facial-palsy
#20
Anna Sagnelli, Giuseppe Piscosquito, Daniela Di Bella, Laura Fadda, Lisa Melzi, Antonio Morico, Claudia Ciano, Franco Taroni, Dante Facchetti, Ettore Salsano, Davide Pareyson
We report the first Italian family affected by hereditary gelsolin amyloidosis (HGA), a rare autosomal dominant disease characterized by adult-onset slowly progressive cranial neuropathy, lattice corneal dystrophy, and cutis laxa. The index case was a 39-year-old male with a 9-year history of progressive bilateral facial nerve palsy. His mother had two episodes of acute facial palsy, and his maternal aunt and grandfather were also affected. Electrophysiological studies confirmed bilateral facial nerve involvement, without signs of peripheral polyneuropathy, and ophthalmological examination showed bilateral lattice corneal dystrophy, in both the index case and his mother...
March 2017: Journal of the Peripheral Nervous System: JPNS
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