Phosphoribosyl pyrophosphate synthetase 1 () associated retinal degeneration: an international study.

Introduction: Phosphoribosyl pyrophosphate synthetase 1 () is an X-linked gene critical for nucleotide metabolism. Pathogenic variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral neuropathy), and non-syndromic sensorineural hearing loss (SNHL). Each may be associated with retinal dystrophy.

Landolt Ring-Shaped Epithelial Keratopathy: A Novel Corneal Disease in a Non-Japanese White Patient.

Purpose: Landolt ring-shaped epithelial keratopathy is a corneal disease that has only been reported in 11 Japanese patients in 2014. 1 We describe the first case of Landolt ring-shaped epithelial keratopathy in the United States in a patient of European background.

Methods: This is a single case report with longitudinal care.

Analysis of ophthalmology subspecialty opioid prescribing patterns during the opioid public health crisis.

Objective: To describe opioid prescribing practices of ophthalmology subspecialties and determine whether opioid prescribing has decreased during the public health crisis.

Design: Retrospective cohort study.

Participants: Ophthalmologists prescribing at least 11 medications billed to the Medicare Part D prescription drug plan.

Impact of Fellowship Training on Practice Patterns of Glaucoma Surgeons Treating Medicare fee-for-service Beneficiaries.

Purpose: Analyze practice patterns of glaucoma surgeons with and without fellowship training.

Materials And Methods: Physician-specific 2017 Medicare data were obtained from the Centers for Medicare & Medicaid Services website. Current Procedural Terminology codes identified procedures including iStent, tube shunts, trabeculectomy, complicated trabeculectomy, endoscopic cyclophotocoagulation, internal Xen Implant, external Xen or Express shunt, Gonioscopy-Assisted Transluminal Trabeculotomy, and Kahook Dual Blade Goniotomy.

Quality metrics for head and neck cancer treated with definitive radiotherapy and/or chemotherapy.

Background: The standardization of quality measures has been key in advancing the aims of the National Quality Forum established to improve health outcomes.

Methods: The National Cancer Database was used to identify eligible patients. Two quality metrics were evaluated including time to treatment initiation (TTI) and chemotherapy in locoregionally head and neck squamous cell carcinoma (HNSCC).

Fellow Selection Protocols in Facial Plastic Surgery: A National Survey of Facial Plastic Surgery Program Directors.

Despite its popularity among otolaryngology residents, there is currently a paucity of knowledge on the match in facial plastics surgery fellowships and the selection criteria that drive the match process. To increase the understanding of this process and to improve the manner in which candidates are vetted, a survey study was designed. A 24-question online survey was designed to discern desired qualities regarding fellow selection, interview processes, fellow participation, and program director satisfaction with the current process.

Barriers, beliefs, and practices regarding hygiene and vaccination among the homeless during a hepatitis A outbreak in Detroit, MI.

Appropriate hygiene practices and vaccine acceptance are key factors impacting the health of homeless individuals. A recent outbreak of hepatitis A in Michigan, especially impacting Detroit, prompted us to investigate the practices and attitudes of Detroit's homeless population toward hygiene measures and vaccinations, as well as barriers to such resources. We developed a questionnaire as a means to collect our data, and participants were interviewed at shelters and soup kitchens.

Medical students' challenges and suggestions regarding research training: a synthesis of comments from a cross- sectional survey.

Background: We previously reported on a cross-sectional study of students from the Michael G. DeGroote School of Medicine at McMaster University that found most respondents wanted more opportunities to participate in research. Students provided additional comments that we synthesized to enrich the findings of our quantitative analysis.

Predictors of medical student interest and confidence in research during medical school.

Background: Research education and opportunities are an important part of undergraduate medical education. This study's objectives were to determine students' interest in research, student self-rated research skills, and to assess potential predictors of research interest and confidence.

Methods: Stakeholder consultation and literature informed a 13-item cross-sectional survey.

Targeted metabolomics in colorectal cancer: a strategic approach using standardized laboratory tests of the blood and urine.

Background: Glycolytic markers have been detected in colorectal cancer (CRC) using advanced analytical methods.

Methods: Using commercially available assays, by-products of anaerobic metabolism were prospectively measured in the blood and urine of 20 patients with metastatic colorectal cancer (mCRC) and 20 patients with local disease. Twenty-four-hour urine citrate, plasma lactate, ketones, venous blood gas, anion gap, and osmolar gap were investigated.