Current Advances and Challenges in Gene Therapies for Neurologic Disorders: A Review for the Clinician.

Over 300 million people globally are affected by rare diseases, many of which present predominantly with neurologic symptoms. Rare neurologic disorders pose significant diagnostic and therapeutic challenges including delayed diagnoses, limited treatment options, and a shortage of specialists. However, advancements in diagnostics, particularly next-generation sequencing and expansion of newborn screening, have significantly shortened the time to diagnosis for many of these disorders.

Football-related maxillofacial injuries.

Maxillofacial injuries sustained playing sports are becoming increasingly common, and in the UK where football is the most popular team sport, associated maxillofacial injuries are a regular occurrence. This study retrospectively examined data on patients who were referred with facial injuries sustained playing football between 2007 and 2019 (n = 265). Demographics, mechanism of injury, diagnosis, and treatment received were analysed.

Combining whole exome sequencing with in silico analysis and clinical data to identify candidate variants in pediatric left ventricular noncompaction.

Background: Understanding the overall variant burden in pediatric patients with left ventricular noncompaction (LVNC) has clinical implications. Whole exome sequencing (WES) allows detection of coding variants in both candidate cardiomyopathy genes and those included on commercial panels. Other lines of evidence, including in silico analysis, are necessary to reduce the overwhelming number of variants to those most likely having a phenotypic impact.

Neutrophil to lymphocyte ratio as a prognostic marker of deep neck space infections secondary to odontogenic infection.

Neutrophil to lymphocyte ratio (NLR) is a marker of infection and is used as a prognostic marker for cancer and cardiovascular disease. There is little application of NLR as a biomarker for odontogenic infection. C-reactive protein (CRP) is a commonly used marker for odontogenic infection that correlates with length of stay (LOS).

Of Mice and Monkeys: Neuroprotective Efficacy of the p38 Inhibitor BIRB 796 Depends on Model Duration in Experimental Glaucoma.

Glaucoma is a group of optic neuropathies associated with aging and sensitivity to intraocular pressure (IOP). Early progression involves retinal ganglion cell (RGC) axon dysfunction that precedes frank degeneration. Previously we demonstrated that p38 MAPK inhibition abates axonal dysfunction and slows degeneration in the inducible microbead occlusion model of glaucoma in rat.

Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

Hypertrophic cardiomyopathy (HCM) is an inherited disorder of the myocardium, and pathogenic mutations in the sarcomere genes myosin heavy chain 7 () and myosin-binding protein C () explain 60%-70% of observed clinical cases. The heterogeneity of phenotypes observed in HCM patients, however, suggests that novel causative genes or genetic modifiers likely exist. Here, we systemically evaluated RNA-seq data from 28 HCM patients and nine healthy controls with pathogenic variant identification, differential expression analysis, and gene co-expression and protein-protein interaction network analyses.

Candidate Regulators of Dyslipidemia in Chromosome 1 Substitution Lines Using Liver Co-Expression Profiling Analysis.

Dyslipidemia is a major risk factor for cardiovascular disease. Although many genetic factors have been unveiled, a large fraction of the phenotypic variance still needs further investigation. Chromosome 1 (Chr 1) harbors multiple gene loci that regulate blood lipid levels, and identifying functional genes in these loci has proved challenging.

Verruciform Xanthoma of the Oral Mucosa: A Series of Eight Typical and Three Anomalous Cases.

In this series, there are 8 typical verruciform xanthomas of the oral mucosa and 3 anomalies, 1 polypoid, 1 florid, and 1 carcinomatous. All were characterized by infiltrates of CD68-positive xanthomatous histiocytes in the lamina propria. The 11 patients comprised 6 men and 5 women (mean age = 54.

Astrocyte remodeling without gliosis precedes optic nerve Axonopathy.

Astroyctes serve myriad functions but are especially critical in white matter tracts, where energy-demanding axons propagate action potentials great distances between neurons. Axonal dependence on astrocytes for even normal function accentuates the critical role astrocytes serve during disease. In glaucoma, the most common optic neuropathy, sensitivity to intraocular pressure (IOP) challenges RGC axons early, including degradation of anterograde transport to the superior colliculus (SC).

Quality of life and communication in orthognathic treatment.

Objective: The primary aim was to determine what, if any, relationships exist between communication and quality of life in patients receiving orthognathic treatment since this has not been explored. A secondary aim was to compare the Quality of Life (QoL) of a pre-treatment sample with those at 2 years post-surgery.

Design: A cross-sectional questionnaire method was used.

"Run-through" training at specialist training year 1 and uncoupled core surgical training for oral and maxillofacial surgery in the United Kingdom: a snapshot survey.

Training in oral and maxillofacial surgery (OMFS) in the UK has undergone considerable changes during the last 10years, and "core" surgical training has replaced "basic" surgical training. In 2014 a pilot "run-through" training programme from specialist training year one (ST1)-ST7 was introduced to facilitate early entry into the speciality. Run-through training guarantees that a trainee, after a single competitive selection process and satisfactory progress, will be given training that covers the entire curriculum of the speciality, whereas uncoupled training requires a second stage of competitive recruitment after the first one (for OMFS only) or two years of "core" training to progress to higher specialty training.

Dentigerous Cyst and Ameloblastoma of the Jaws.

Aim: To determine how many ameloblastomas were misdiagnosed as dentigerous cysts (DCs) by correlating the radiological and histopathological features of a series of both entities.

Methods And Results: Histopathology reports and radiological imaging of 135 DCs and 43 ameloblastomas were reviewed. Any clinical or radiological feature that suggested that the diagnosis of DC was wrong-for example, absence of an unerupted tooth-prompted review of the original histology.

Reinventing the wheel: a modern perspective on the bilateral inverted 'L' osteotomy.

The bird-face deformity of a severe class II, high Frankfort-mandibular plane angle with significant retrogenia, often associated with diminutive condyles and reduced posterior face height, poses many challenges to the orthognathic surgeon. Of greatest concern in these patients is the degree of mandibular advancement required and the potential for relapse. The sagittal split osteotomy is the workhorse of mandibular surgery but does not allow significant lengthening of the ramus, which is desirable in this group of patients.

Oral vs intravenous paracetamol for lower third molar extractions under general anaesthesia: is oral administration inferior?

Background: Paracetamol formulations provide effective analgesia after surgery [Duggan ST, Scott LJ. Intravenous paracetamol (acetominophen). Drugs 2009; 69: 101-13; Toms L, McQuay HJ, Derry S, Moore RA.

Use of dental loupes among dental trainers and trainees in the UK.

Introduction: Magnification loupes are used in dentistry where increased visual performance is needed. The interest and use of loupes among dental practitioners and students appears to be growing. Despite this little quantitative data regarding the use of loupes in clinical practice and factors governing their purchase among dental trainers and trainees is available.

Hemimandibulectomy and vascularized fibula flap in bisphosphonate-induced mandibular osteonecrosis with polycythaemia rubra vera.

This report presents the successful management of an advanced and refractory bisphosphonate-related osteonecrosis of the jaws (BRONJ) by hemimandibulectomy and an osteocutaneous fibula flap reconstruction in a patient with polycythaemia rubra vera, a rare haematological condition in which there is increased risk of thrombosis and haemorrhage. Union of the vascularized bone with the mandible depends on obtaining a BRONJ-free margin and rigid fixation of the bony ends. Magnetic resonance imaging can provide accurate delineation of necrotic bone and area of osteomyelitis.

Navigation-assisted localisation and resection of subclinical metastatic malignant melanoma of unknown primary based on 18-fluorodeoxyglcose positron emission tomography computed tomography fusion imaging.

A technical application using a stereotactic navigation system with fusion images of [18F]-2-fluorodeoxyglucose (FDG) positron tomography and computed tomography (PET-CT) in the case of a metastatic melanoma of unknown primary site is described. A 50-year-old woman presented with a slow, growing level V neck lump which was cytologically proved to be a metastatic melanoma despite the absence of prior or existing history of skin malignancy. Whilst detailed physical examination failed to yield the site of the primary lesion, full body FDG-PET images isolated FDG-avid subclinical scalp lesions.

Orthognathic treatment of asymmetry: two cases of "waferless" stereotactic maxillary positioning.

We present 2 cases in which navigation-guided surgery was used to correct complex facial asymmetry. The merits and challenges of using stereotactic technology to allow "waferless" positioning of the maxilla in orthognathic surgery are illustrated by patients who were operated on without the use of acrylic wafers to achieve three-dimensional correction of the maxillary deformity. Biometric assessment was made clinically and recorded with computed tomographic (CT) scanning.

Patients' complaints at a large psychiatric hospital: can they lead to better patient services?

Purpose: Little is known about complaints made by psychiatric patients. The aim of this study is to analyse complaints made by, or behalf of, inpatients at a large independent psychiatric hospital.

Design/methodology/approach: The hospital's complaints register was used to identify and study complaints made during 2006.

Osteomyelitis of the mandible secondary to pericoronitis of an impacted third molar.

Unlabelled: Impacted third molars are a common reason for referral to the hospital dental service. Third molar impaction can be complicated by infection. We present two cases of osteomyelitis of the mandible developing secondary to pericoronitis of partially erupted lower third molars.

'Hypoxic ventilatory decline' in the intracellular Ca2+ response to sustained isocapnic hypoxia in carotid body glomus cells.

In humans the ventilatory response to sustained isocapnic hypoxia is biphasic: after an initial rapid rise there follows a steady decline of the next 20-30 min termed hypoxic ventilatory decline (HVD). It is not known whether this secondary phase resides in a reducing activity of the peripheral or the central chemoreflex. We wished to assess if the Ca(2+) transient that occurs in glomus cells in response to hypoxia exhibits a form of HVD with sustained hypoxia that parallels the human ventilatory response, or if it exhibits a different response.

Comparison of treatment of cherry angiomata with pulsed-dye laser, potassium titanyl phosphate laser, and electrodesiccation: a randomized controlled trial.

Objective: To assess the comparative efficacy of energy treatments in resolving cherry angiomata.

Design: Rater-blinded randomized controlled trial.

Setting: Outpatient dermatology clinic in an urban referral academic medical center.