keyword
MENU ▼
Read by QxMD icon Read
search

Aldave

keyword
https://www.readbyqxmd.com/read/28367431/a-3-year-old-girl-with-recurrent-infections-and-autoimmunity-due-to-a-stat1-gain-of-function-mutation-the-expanding-clinical-presentation-of-primary-immunodeficiencies
#1
Juan Carlos Aldave Becerra, Enrique Cachay Rojas
We report a 3-year-old Peruvian girl, born to non-consanguineous parents. At the age of 8 months, she had a severe pneumonia complicated with empyema that required thoracic drainage and mechanical ventilation. Although no microorganisms were isolated, the patient recovered with broad-spectrum antibiotics. Since that date, she has presented multiple episodes of pneumonia and recurrent episodes of bronchospasm. At 1 year 5 months of age, the patient began with recurrent episodes of oropharyngeal, vaginal, and skin candidiasis, which improved transiently after using oral azole drugs...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28362188/spinal-column-shortening-for-tethered-cord-syndrome-associated-with-myelomeningocele-lumbosacral-lipoma-and-lipomyelomeningocele-in-children-and-young-adults
#2
Guillermo Aldave, Daniel Hansen, Steven W Hwang, Amee Moreno, Valentina Briceño, Andrew Jea
OBJECTIVE Tethered cord syndrome is the clinical manifestation of an abnormal stretch on the spinal cord, presumably causing mechanical injury, a compromised blood supply, and altered spinal cord metabolism. Tethered cord release is the standard treatment for tethered cord syndrome. However, direct untethering of the spinal cord carries potential risks, such as new neurological deficits from spinal cord injury, a CSF leak from opening the dura, and retethering of the spinal cord from normal scar formation after surgery...
March 31, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28358029/genome-wide-association-study-identifies-three-novel-loci-in-fuchs-endothelial-corneal-dystrophy
#3
Natalie A Afshari, Robert P Igo, Nathan J Morris, Dwight Stambolian, Shiwani Sharma, V Lakshmi Pulagam, Steven Dunn, John F Stamler, Barbara J Truitt, Jacqueline Rimmler, Abraham Kuot, Christopher R Croasdale, Xuejun Qin, Kathryn P Burdon, S Amer Riazuddin, Richard Mills, Sonja Klebe, Mollie A Minear, Jiagang Zhao, Elmer Balajonda, George O Rosenwasser, Keith H Baratz, V Vinod Mootha, Sanjay V Patel, Simon G Gregory, Joan E Bailey-Wilson, Marianne O Price, Francis W Price, Jamie E Craig, John H Fingert, John D Gottsch, Anthony J Aldave, Gordon K Klintworth, Jonathan H Lass, Yi-Ju Li, Sudha K Iyengar
The structure of the cornea is vital to its transparency, and dystrophies that disrupt corneal organization are highly heritable. To understand the genetic aetiology of Fuchs endothelial corneal dystrophy (FECD), the most prevalent corneal disorder requiring transplantation, we conducted a genome-wide association study (GWAS) on 1,404 FECD cases and 2,564 controls of European ancestry, followed by replication and meta-analysis, for a total of 2,075 cases and 3,342 controls. We identify three novel loci meeting genome-wide significance (P<5 × 10(-8)): KANK4 rs79742895, LAMC1 rs3768617 and LINC00970/ATP1B1 rs1200114...
March 30, 2017: Nature Communications
https://www.readbyqxmd.com/read/28128705/assessing-residents-operative-skills-for-external-ventricular-drain-placement-and-shunt-surgery-in-pediatric-neurosurgery
#4
MULTICENTER STUDY
Guillermo Aldave, Daniel Hansen, Valentina Briceño, Thomas G Luerssen, Andrew Jea
OBJECTIVE The authors previously demonstrated the use of a validated Objective Structured Assessment of Technical Skills (OSATS) tool for evaluating residents' operative skills in pediatric neurosurgery. However, no benchmarks have been established for specific pediatric procedures despite an increased need for meaningful assessments that can either allow for early intervention for underperforming trainees or allow for proficient residents to progress to conducting operations independently with more passive supervision...
April 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28060069/vortex-pattern-of-corneal-deposits-in-granular-corneal-dystrophy-associated-with-the-p-arg555trp-mutation-in-tgfbi
#5
Jaffer M Kattan, Juan Carlos Serna-Ojeda, Anushree Sharma, Eung K Kim, Arturo Ramirez-Miranda, Marisa Cruz-Aguilar, Aleck E Cervantes, Ricardo F Frausto, Juan Carlos Zenteno, Enrique O Graue-Hernandez, Anthony J Aldave
PURPOSE: To describe 2 unrelated families with multiple members demonstrating a less commonly recognized vortex pattern of corneal deposits confirmed to be granular corneal dystrophy type 1 (GCD1) after identification of the p.(Arg555Trp) mutation in the transforming growth factor β-induced gene (TGFBI). METHODS: A slit-lamp examination was performed on individuals from 2 families, one of Mexican descent and a second of Italian descent. After DNA extraction from affected individuals and their unaffected relatives, TGFBI screening was performed...
February 2017: Cornea
https://www.readbyqxmd.com/read/28046031/confirmation-of-the-ovol2-promoter-mutation-c-307t-c-in-posterior-polymorphous-corneal-dystrophy-1
#6
Doug D Chung, Ricardo F Frausto, Aleck E Cervantes, Katherine M Gee, Marina Zakharevich, Evelyn M Hanser, Edwin M Stone, Elise Heon, Anthony J Aldave
PURPOSE: To identify the genetic basis of posterior polymorphous corneal dystrophy (PPCD) in families mapped to the PPCD1 locus and in affected individuals without ZEB1 coding region mutations. METHODS: The promoter, 5' UTR, and coding regions of OVOL2 was screened in the PPCD family in which linkage analysis established the PPCD1 locus and in 26 PPCD probands who did not harbor a ZEB1 mutation. Copy number variation (CNV) analysis in the PPCD1 and PPCD3 intervals was performed on DNA samples from eight probands using aCGH...
2017: PloS One
https://www.readbyqxmd.com/read/27741017/vortex-pattern-of-corneal-deposits-in-granular-corneal-dystrophy-associated-with-the-p-argr555wtrp-mutation-in-tgfbi
#7
Jaffer M Kattan, Juan Carlos Serna-Ojeda, Anushree Sharma, Eung K Kim, Arturo Ramirez-Miranda, Marisa Cruz-Aguilar, Aleck E Cervantes, Ricardo F Frausto, Juan Carlos Zenteno, Enrique O Graue-Hernandez, Anthony J Aldave
PURPOSE: To describe 2 unrelated families with multiple members demonstrating a less commonly recognized vortex pattern of corneal deposits confirmed to be granular corneal dystrophy type 1 (GCD1) after identification of the p.(Arg555Trp) mutation in the transforming growth factor β-induced gene (TGFBI). METHODS: A slit-lamp examination was performed on individuals from 2 families, one of Mexican descent and a second of Italian descent. After DNA extraction from affected individuals and their unaffected relatives, TGFBI screening was performed...
October 12, 2016: Cornea
https://www.readbyqxmd.com/read/27614591/safety-of-concurrent-boston-type-i-keratoprosthesis-and-glaucoma-drainage-device-implantation
#8
Tamara L Lenis, Stephan Y Chiu, Simon K Law, Fei Yu, Anthony J Aldave
PURPOSE: To evaluate the safety of concurrent Boston type I keratoprosthesis (KPro) and glaucoma drainage device (GDD) implantation. DESIGN: Retrospective comparative study of a consecutive cohort of patients. SUBJECTS: Patients who underwent KPro implantation by a single surgeon (A.J.A.) with or without 1 concurrent Ahmed GDD (New World Medical, Inc., Rancho Cucamonga, CA) implantation between January 1, 2005, and January 31, 2015, were included...
January 2017: Ophthalmology
https://www.readbyqxmd.com/read/27581649/multifunctional-ion-transport-properties-of-human-slc4a11-comparison-of-the-slc4a11-b-and-slc4a11-c-variants
#9
Liyo Kao, Rustam Azimov, Xuesi M Shao, Ricardo F Frausto, Natalia Abuladze, Debra Newman, Anthony J Aldave, Ira Kurtz
Congenital hereditary endothelial dystrophy (CHED), Harboyan syndrome (CHED with progressive sensorineural deafness), and potentially a subset of individuals with late-onset Fuchs' endothelial corneal dystrophy are caused by mutations in the SLC4A11 gene that results in corneal endothelial cell abnormalities. Originally classified as a borate transporter, the function of SLC4A11 as a transport protein remains poorly understood. Elucidating the transport function(s) of SLC4A11 is needed to better understand how its loss results in the aforementioned posterior corneal dystrophic disease processes...
November 1, 2016: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/27577878/primary-immunodeficiency-diseases-genomic-approaches-delineate-heterogeneous-mendelian-disorders
#10
Asbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, Tomasz Gambin, Ivan K Chinn, Zeynep H Coban Akdemir, Hans Christian Erichsen, Lisa R Forbes, Shen Gu, Bo Yuan, Shalini N Jhangiani, Donna M Muzny, Olaug Kristin Rødningen, Ying Sheng, Sarah K Nicholas, Lenora M Noroski, Filiz O Seeborg, Carla M Davis, Debra L Canter, Emily M Mace, Timothy J Vece, Carl E Allen, Harshal A Abhyankar, Philip M Boone, Christine R Beck, Wojciech Wiszniewski, Børre Fevang, Pål Aukrust, Geir E Tjønnfjord, Tobias Gedde-Dahl, Henrik Hjorth-Hansen, Ingunn Dybedal, Ingvild Nordøy, Silje F Jørgensen, Tore G Abrahamsen, Torstein Øverland, Anne Grete Bechensteen, Vegard Skogen, Liv T N Osnes, Mari Ann Kulseth, Trine E Prescott, Cecilie F Rustad, Ketil R Heimdal, John W Belmont, Nicholas L Rider, Javier Chinen, Tram N Cao, Eric A Smith, Maria Soledad Caldirola, Liliana Bezrodnik, Saul Oswaldo Lugo Reyes, Francisco J Espinosa Rosales, Nina Denisse Guerrero-Cursaru, Luis Alberto Pedroza, Cecilia M Poli, Jose L Franco, Claudia M Trujillo Vargas, Juan Carlos Aldave Becerra, Nicola Wright, Thomas B Issekutz, Andrew C Issekutz, Jordan Abbott, Jason W Caldwell, Diana K Bayer, Alice Y Chan, Alessandro Aiuti, Caterina Cancrini, Eva Holmberg, Christina West, Magnus Burstedt, Ender Karaca, Gözde Yesil, Hasibe Artac, Yavuz Bayram, Mehmed Musa Atik, Mohammad K Eldomery, Mohammad S Ehlayel, Stephen Jolles, Berit Flatø, Alison A Bertuch, I Celine Hanson, Victor W Zhang, Lee-Jun Wong, Jianhong Hu, Magdalena Walkiewicz, Yaping Yang, Christine M Eng, Eric Boerwinkle, Richard A Gibbs, William T Shearer, Robert Lyle, Jordan S Orange, James R Lupski
BACKGROUND: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions. OBJECTIVE: We sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs...
January 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27537263/investigating-the-molecular-basis-of-ppcd3-characterization-of-zeb1-regulation-of-col4a3-expression
#11
Duk-Won D Chung, Ricardo F Frausto, Stephan Chiu, Benjamin R Lin, Anthony J Aldave
PURPOSE: To investigate the role of the zinc finger e-box binding homeobox 1 (ZEB1) transcription factor in posterior polymorphous corneal dystrophy 3 by demonstrating its ability to regulate type IV collagen gene transcription via binding to putative E2 box motifs. METHODS: Putative E2 box motifs were identified by in silico analysis within the promoter region of collagen, type IV, alpha3 (COL4A3) and collagen, type IV, alpha4 (COL4A4). To test the ability of ZEB1 to bind to each identified E2 box, electrophoretic mobility shift assays were performed by incubating ZEB1-enriched nuclear extracts with DIG-labeled probes containing one of each of the identified E2 box motifs...
August 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27493072/antimonene-mechanical-isolation-of-highly-stable-antimonene-under-ambient-conditions-adv-mater-30-2016
#12
Pablo Ares, Fernando Aguilar-Galindo, David Rodríguez-San-Miguel, Diego A Aldave, Sergio Díaz-Tendero, Manuel Alcamí, Fernando Martín, Julio Gómez-Herrero, Félix Zamora
On page 6332, J. Gómez-Herrero, F. Zamora, and co-workers describe the isolation of antimonene, a new allotrope of antimony that consists of a single layer of atoms. They obtain antimonene flakes by the scotch tape method; these flakes are highly stable in ambient conditions and even when immersed in water. The 1.2 eV gap calculated in this study suggests potential applications in optoelectronics.
August 2016: Advanced Materials
https://www.readbyqxmd.com/read/27402970/variant-lattice-corneal-dystrophy-associated-with-compound-heterozygous-mutations-in-the-tgfbi-gene
#13
Lydia Bai-Tsin Ann, Alessandro Abbouda, Ricardo F Frausto, Samira Huseynli, Kishan Gupta, Jorge L Alió, Anthony J Aldave
BACKGROUND/AIMS: To report the clinical, histopathological and genetic features of a variant of lattice corneal dystrophy (LCD) associated with two pathogenic mutations in the transforming growth factor-B-induced (TGFBI) gene. METHODS: Clinical characterisation was performed by slit lamp examination and in vivo confocal microscopic imaging (IVCM). Histopathological characterisation was performed with light microscopic examination of an excised corneal button and a peripheral blood samples were collected for TGFBI screening...
April 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27387566/long-term-outcomes-of-the-boston-type-i-keratoprosthesis-in-the-management-of-corneal-limbal-stem-cell-deficiency
#14
Carolina Aravena, Tahir Kansu Bozkurt, Fei Yu, Anthony J Aldave
PURPOSE: To report the long-term outcomes of the Boston type I keratoprosthesis (KPro) in the management of limbal stem cell deficiency (LSCD). METHODS: Retrospective review of KPro procedures performed by a single surgeon from May 1, 2004, to January 1, 2015. RESULTS: One hundred seventy-three KPro procedures were performed in 149 eyes, including 68 in 54 eyes with LSCD. Glaucoma (48% vs. 82%, P < 0.0001) and a history of ≥2 keratoplasties (39% vs...
September 2016: Cornea
https://www.readbyqxmd.com/read/27382485/identification-of-the-first-de-novo-ubiad1-gene-mutation-associated-with-schnyder-corneal-dystrophy
#15
Benjamin R Lin, Ricardo F Frausto, Rosalind C Vo, Stephan Y Chiu, Judy L Chen, Anthony J Aldave
Purpose. To report the identification of the first de novo UBIAD1 missense mutation in an individual with Schnyder corneal dystrophy (SCD). Methods. A slit lamp examination was performed on a 47-year-old woman without a family history of corneal disorders. The proband's parents, two sisters, and son were also examined and genomic DNA from all six individuals was collected. The exons and exon-intron boundaries of UBIAD1 were screened using Sanger sequencing. Identified mutations were screened for in 200 control chromosomes...
2016: Journal of Ophthalmology
https://www.readbyqxmd.com/read/27355326/identification-of-potentially-pathogenic-variants-in-the-posterior-polymorphous-corneal-dystrophy-1-locus
#16
Derek J Le, Duk-Won D Chung, Ricardo F Frausto, Michelle J Kim, Anthony J Aldave
Posterior polymorphous corneal dystrophy 1 (PPCD1) is a genetic disorder that affects corneal endothelial cell function and leads to loss of visual acuity. PPCD1 has been linked to a locus on chromosome 20 in multiple families; however, Sanger sequencing of protein-coding genes in the consensus region failed to identify any causative missense mutations. In this study, custom capture probes were utilized for targeted next-generation sequencing of the linked region in a previously reported family with PPCD1. Variants were detected through two bioinformatics pipelines and filtered according to multiple criteria...
2016: PloS One
https://www.readbyqxmd.com/read/27309958/whole-exome-sequencing-and-segregation-analysis-confirms-that-a-mutation-in-col17a1-is-the-cause-of-epithelial-recurrent-erosion-dystrophy-in-a-large-dominant-pedigree-previously-mapped-to-chromosome-10q23-q24
#17
Benjamin R Lin, Derek J Le, Yabin Chen, Qiwei Wang, D Doug Chung, Ricardo F Frausto, Christopher Croasdale, Richard W Yee, Fielding J Hejtmancik, Anthony J Aldave
PURPOSE: To report identification of a COL17A1 mutation in a family with a corneal dystrophy previously mapped to chromosome 10q23-q24. METHODS: Whole-exome sequencing was performed on DNA samples from five affected family members and two unrelated, unaffected individuals. Identified variants were filtered for those that were: located in the linked interval on chromosome 10q23-q24; novel or rare (minor allele frequency ≤0.01); heterozygous; present in all affected individuals and not in controls; and present in genes that encode proteins expressed in human corneal epithelial cells (reads per kilobase per million ≥1)...
2016: PloS One
https://www.readbyqxmd.com/read/27272099/mechanical-isolation-of-highly-stable-antimonene-under-ambient-conditions
#18
Pablo Ares, Fernando Aguilar-Galindo, David Rodríguez-San-Miguel, Diego A Aldave, Sergio Díaz-Tendero, Manuel Alcamí, Fernando Martín, Julio Gómez-Herrero, Félix Zamora
Antimonene fabricated by mechanical exfoliation is highly stable under atmospheric conditions over periods of months and even when immersed in water. Density functional theory confirms the experiments and predicts an electronic gap of ≈1 eV. These results highlight the use of antimonene for optoelectronics applications.
August 2016: Advanced Materials
https://www.readbyqxmd.com/read/27262766/corneal-endothelium-in-patients-with-anterior-uveitis
#19
Abdullah M Alfawaz, Gary N Holland, Fei Yu, Mathew S Margolis, JoAnn A Giaconi, Anthony J Aldave
PURPOSE: To investigate a possible effect of intraocular inflammation on corneal endothelium by describing corneal endothelial cell density (ECD) and morphologic variables in eyes with anterior uveitis, and to investigate factors that may influence these findings. DESIGN: Cross-sectional, observational study. Observers were not masked. PARTICIPANTS: Volunteers with histories of unilateral or bilateral anterior segment inflammation (anterior, intermediate, or panuveitis); included were 52 patients (84 eyes with uveitis)...
August 2016: Ophthalmology
https://www.readbyqxmd.com/read/27158606/indications-for-and-techniques-of-keratoplasty-at-vietnam-national-institute-of-ophthalmology
#20
Pham Ngoc Dong, Truong Nhu Han, Anthony J Aldave, Hoang Thi Minh Chau
AIM: To report the indications for and techniques of corneal transplantation at Vietnam National Institute of Ophthalmology (VNIO) over a period of 12y (2002-2013). METHODS: Records of patients who had undergone corneal transplantation at VNIO from January 1, 2002 to January 1, 2014 were reviewed to determine the indication for and type of corneal transplant performed. Patient age, gender, indication for corneal transplantation and surgical technique were recorded and analyzed...
2016: International Journal of Ophthalmology
keyword
keyword
69666
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"