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Genet Med Open
July 2024
Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.
Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.
J Feline Med Surg
December 2024
Anderson Veterinary Surgery, Orpington, Kent, UK.
Objectives: The aim of this study was to assess the complication rates and long-term outcomes, as well as to refine case selection criteria for cats undergoing trochlear ridge augmentation (TRA) using an ultra-high molecular weight polyethylene implant (UHMWPEI) for the treatment of patellar luxation (PL).
Methods: The clinical records from two referral veterinary hospitals were searched for cases that fitted defined inclusion criteria. A short-term assessment was based on examination and radiography at 8 weeks postoperatively.
J Endod
November 2024
Department of Dentistry, Federal University of Santa Catarina, Florianopolis, Santa Catarina, Brazil. Electronic address:
The occurrence of different types of trauma concomitantly can complicate the establishment of the most appropriate treatment. This report describes the clinical management of orofacial trauma including multiple avulsions, lateral luxation, alveolar fracture, and their sequelae after 7 years of follow-up. A 19-year-old woman presented to emergency care 4 hours after an accidental fall that resulted in the avulsion of teeth #8, #9, and #25; a complicated crown fracture and lateral luxation of tooth #7; an uncomplicated crown fracture of tooth #10; and a fracture of the maxillary alveolar bone.
View Article and Find Full Text PDFVet Ophthalmol
October 2024
Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Objective: Cone-rod dystrophy (cord1) is a form of progressive retinal atrophy. It is linked to an RPGRIP1 genetic variant which is the third most common canine disease variant thus far. While the variant affects various breeds, it is highly prevalent in English Springer Spaniels (ESSs).
View Article and Find Full Text PDFJ Pharm Bioallied Sci
April 2024
Department of Preventive Dental Sciences, College of Dentistry, King Faisal University, AlHassa, Saudi Arabia.
Objective: The aim of this study was to investigate the pattern and distribution of traumatic injuries to primary and permanent anterior teeth in 2-14-year-old pediatric dental patients in AlHassa region of Saudi Arabia.
Methods: The study sample consisted of pediatric dental patients visiting the university dental complex seeking treatment for traumatic dental injuries (TDIs) during the period from February 2022 to April 2023. Data were collected by means of interviewing the children and/or parents regarding the history of trauma and clinical examination for evidence of dental trauma to primary and permanent teeth.
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