Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy [PDF]
, 2018 Epidermolysis bullosa (EB) is caused by mutations in as many as 19 distinct genes. We have developed a next-generation sequencing (NGS) panel targeting genes known to be mutated in skin fragility disorders, including tetraspanin CD151 expressed in ...
Abiri, Maryam +15 more
core +1 more source
Retrospective study of the congenital lacrimonasal duct obstruction [PDF]
, 2011 PURPOSE: The goal of this research is to relate the results of congenital lacrimonasal duct obstruction treatment and epidemic aspects in children.
Lorena, Silvia Helena Tavares +1 more
core +2 more sources
Dependence of radioactive iodine-131 capture by the lacrimal ducts on the tear production level
Indian Journal of Ophthalmology, 2023 Purpose: Secondary acquired lacrimal duct obstruction (SALDO) is one of the complications of radioiodine therapy. SALDO is formed a few months after therapy if there is a sufficient uptake of radioactive iodine by the nasolacrimal duct.
Vasily D Yartsev +6 more
doaj +1 more source
Nasal and Sinus Disorders in Patients with Primary Acquired Nasolacrimal Duct Obstruction (PANDO) [PDF]
Patient Safety and Quality Improvement JournalIntroduction:To investigate the frequency of nasal and sinus problems in patients with acquired nasolacrimal duct obstruction.Materials and Methods: The prospective case-control study was performed on 44 patients with primary acquired nasolacrimal duct ...
Mohammad Sharifi
doaj +1 more source
OUTCOME OF INITIAL 100 CASES OF ENDOSCOPIC DACRYOCYSTORHINOSTOMY IN KIRKUK
Al-Kitab Journal for Pure Sciences, 2022 This study aimed at determining the effect and safety of endoscopic dacryocystorhinostomy (ENDO-DCR) in initial 100 cases of nasolacrimal duct obstruction. This study was done in Kirkuk general hospital from 2010 to 2017 with a total of 100 cases.
Tunjai namiq faiq
doaj +1 more source
Class A drug abuse: an ophthalmologist's problem? [PDF]
, 2005 [First Paragraph] The 2002/3 British Crime Survey reported that 3% of all 16 to 59 year olds (equating to around one million people) had used a class A drug in the last year.
Firth, A.Y.
core +1 more source
Nasolacrimal duct intubation in the treatment of congenital nasolacrimal duct obstruction in older children [PDF]
Eye, 2015 PurposeThe purpose of this study was to investigate the outcomes of nasolacrimal duct intubation in the primary treatment of congenital nasolacrimal duct obstruction (CNLDO) in children aged 7 years and older.MethodsThirty children aged ≥7 years who underwent primary unilateral nasolacrimal duct intubation because of CNLDO were enrolled in this study ...
S, Okumuş +7 more
openaire +2 more sources
Rhinologist’s Endoscopic Experience of Lower Lacrimal System Pathologies in Paediatric Patients
Delhi Journal of Ophthalmology, 2017 Cases of congenital nasolacrimal duct block with unsuccessful blind probing were taken up for a repeat probing under endoscopic assistance. Membranes with a wide variation in thickness were found blocking the lower end of nasolacrimal duct.
Nishi Gupta
doaj +1 more source
Lacrimal Plasty with Dacryocystorhinostomy-Anastomosis Using Microsurgery
Plastic and Reconstructive Surgery, Global Open, 2023 Background:. Dacryocystorhinostomy (DCR) is the standard treatment for nasolacrimal duct obstruction, but it has the disadvantage of creating a raw surface, which may lead to reocclusion due to the development of postoperative granulation tissue. In this
Daisuke Yanagisawa, MD +1 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim +9 more
wiley +1 more source