Ann Otol Rhinol Laryngol
December 2024
Background: Laryngeal carcinoma is not uncommon worldwide. We conducted this study to comprehensively compare the outcome of stapler versus conventional suturing in total laryngectomy primary or salvage.
Patients And Methods: This is a retrospective study conducted in our tertiary institute from 2015 to 2022 involving patients diagnosed with laryngeal carcinoma who underwent total laryngectomy either primary or salvage.
FAM111A (family with sequence similarity 111 member A) is a serine protease and removes covalent DNA-protein cross-links during DNA replication. Heterozygous gain-of-function variants in FAM111A cause skeletal dysplasias, such as the perinatal lethal osteocraniostenosis and the milder Kenny-Caffey syndrome (KCS). We report two siblings born to consanguineous parents with dysmorphic craniofacial features, postnatal growth retardation, ophthalmologic manifestations, hair and nail anomalies, and skeletal abnormalities such as thickened cortex and stenosis of the medullary cavity of the long bones suggestive of KCS.
View Article and Find Full Text PDFPurpose: The purpose of this prospective study was to evaluate the effect of combined photorefractive keratectomy (PRK) and corneal collagen cross-linking (CXL) on intraocular pressure (IOP) in patients with keratoconus (KC).
Methods: We included 64 eyes of 34 patients (19 males and 15 females; age: 19-40y) with stages 1-2 keratoconus which had undergone combined wavefront-optimized photorefractive keratectomy and corneal collagen cross linking. Two other groups of patients were added as controls: the PRK group including 110 eyes of 57 patients (23 males and 34 females; age: 18-44y) which had undergone wavefront-optimized photorefractive keratectomy for myopic refractive errors, and the CXL group including 36 eyes of 23 patients (14 males and 9 females; age: 12-38y) with keratoconus, not filling the inclusion criteria for combined PRK and CXL, which had undergone corneal collagen cross-linking.
Cell Mol Biol (Noisy-le-grand)
December 2022
The major roles of vitamin D in the genesis of breast cancer and as an immunomodulator against acute and chronic infections have been the subject of much research in recent years. A low vitamin D status could decrease the function of blocking the cell multiplication cycle of the cancer process and weaken the immune system. In this context, we were interested in the implication of vitamin D status in women with human papilloma virus (HPV)-induced breast cancer.
View Article and Find Full Text PDFBackground: Retinitis pigmentosa punctata albescens (RPA) is a particular form of retinitis pigmentosa characterized by childhood onset night blindness and areas of peripheral retinal atrophy. We investigated the genetic cause of RPA in a family consisting of two affected Egyptian brothers with healthy consanguineous parents.
Methods: Mutational analysis of four RPA causative genes was realized by Sanger sequencing on both probands, and detected variants were subsequently genotyped in their parents.