11/06/2024


Juvenile granulosa cell tumor (JGCT) is the most common type of sex cord stromal tumor arising from gonadal structures of children and young adults. We present a 3.5-year-old girl with JGCT located in retroperitoneum without ovarian involvement. Extragonadal occurrences of other sex cord stromal tumors have been rarely reported, but this is the first case of JGCT in an extragonadal location. We speculate the possible underlying mechanism of sex cord stromal tumor formation in extragonadal locations. Furthermore, clinical presentation, differential diagnosis and management of this tumor in childhood are discussed.Introduction Galvanic vestibular stimulation (GVS) is a noninvasive technique that activates vestibular afferents, influencing activity and oscillations in a broad network of brain regions. Several studies have suggested beneficial effects of GVS on motor symptoms in Parkinson's Disease (PD).Areas covered A comprehensive overview of the stimulation techniques, potential mechanisms of action, challenges, and future research directions.Expert opinion This emerging technology is not currently a viable therapy. However, a complementary therapy that is inexpensive, easily disseminated, customizable, and portable is sufficiently enticing that continued research and development is warranted. Future work utilizing biomedical engineering approaches, including concomitant functional neuroimaging, have the potential to significantly increase efficacy. GVS could be explored for other PD symptoms including orthostatic hypotension, dyskinesia, and sleep disorders.
We evaluated the associations of clinical and demographic characteristics with visual acuity (VA) with over 5years in a subspecialty noninfectious uveitis population.

Retrospective data from 5,530 noninfectious uveitis patients were abstracted by expert reviewers, and contemporaneous associations of VA with demographic and clinical factors were modeled.

Patients were a median of 41years old, 65% female, and 73% white. Eyes diagnosed ≥5years prior to cohort entry had worse VA (-1.2 lines) than those diagnosed <6months prior, and eyes with cataract surgery performed prior to entry had worse VA (-5.9 lines) than those performed during follow-up. Vitreous haze (-4.2 lines for 3+vs quiet), hypotony (-2.5 lines for ≤5 mm Hg vs 6-23 mm Hg), and CNV (-1.8 lines) all were strongly associated with reduced VA.

Factors associated with reduced VA included well-known structural complications, and lack of subspecialty care during cataract surgery.
Factors associated with reduced VA included well-known structural complications, and lack of subspecialty care during cataract surgery.The investigations discussed in this review indicate that iron may exacerbate different eye diseases. Therefore, it is plausible that reducing cellular or body iron stores could influence disease pathogenesis, so it is logical to consider the iron chelators' potential protective role in the various ophthalmic diseases in the form of topical eye drops or slow releasing injectable compounds as an adjuvant treatment.Purpose To characterize presentations, characteristics and outcomes of uveitis in Vogt-Koyanagi-Harada (VKH) syndrome in a North American First Nations (FN) population.Methods Charts of 27 Canadian FN patients with VKH uveitis were retrospectively reviewed to characterize demographics, disease characteristics, management, complications and visual outcomes.Results Average age at uveitis onset was 30.9 ± 13.8 years. https://www.selleckchem.com/products/mrtx1133.html Twenty-six patients 10 (96.3%) were female. Nine patients (33.3%) demonstrated complete VKH, 8 (29.6%) incomplete, and 10 (37%) probable VKH. Systemic associations included integumentary (19 patients, 70%), neurologic (17 patients, 63%), and auditory (13 patients, 48%) findings. Initial rates of mild, moderate and severe vision loss were 19 eyes (35.2%), 12 eyes (22.2%), and 23 eyes (42.6%), respectively, compared with final rates of 19 eyes (35.2%), 14 eyes (25.6%) and 21 eyes (38.9%), respectively. Average change in visual acuity was 15 0.1 ± 6.3 Snellen lines. Rates of immunomodulatory therapy (IMT) use (10 patients, 37%) fell short of targets.Conclusions VKH may cause potentially severe uveitis in this population. Comorbidities including tuberculosis and diabetes, in addition to unique cultural, linguistic and geographic factors, may necessitate complex, individualized management strategies.Introduction Coronavirus disease 2019 (COVID-19), a respiratory illness caused by novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), had its first detection in December 2019 in Wuhan (China) and spread across the world. In March 2020, the World Health Organization (WHO) declared COVID-19 a pandemic disease. The utilization of prompt and accurate molecular diagnosis of SARS-CoV-2 virus, isolating the infected patients, and treating them are the keys to managing this unprecedented pandemic. International travel acted as a catalyst for the widespread transmission of the virus.Areas covered This review discusses phenotype, structural, and molecular evolution of recognition elements and primers, its detection in the laboratory, and at point of care. Further, market analysis of commercial products and their performance are also evaluated, providing new ways to confront the ongoing global public health emergency.Expert commentary The outbreak for COVID-19 created mammoth chaos in the healthcare sector, and still, day by day, new epicenters for the outbreak are being reported. Emphasis should be placed on developing more effective, rapid, and early diagnostic devices. The testing laboratories should invest more in clinically relevant multiplexed and scalable detection tools to fight against a pandemic like this where massive demand for testing exists.Purpose To review preclinical and clinical advances in gene therapy, with a focus on gene editing technologies, and application to inherited retinal disease.Methods A narrative overview of the literature, summarizing the state-of-the-art in clinical gene therapy for inherited retinal disease, as well as the science and application of new gene editing technology.Results The last three years has seen the first FDA approval of an in vivo gene replacement therapy for a hereditary blinding eye disease and, recently, the first clinical application of an in vivo gene editing technique. Limitations and challenges in this evolving field are highlighted, as well as new technologies developed to address the multitude of molecular mechanisms of disease.Conclusion Genetic therapy for the treatment of inherited retinal disease is a rapidly expanding area of ophthalmology. New technologies have revolutionized the field of genome engineering and rekindled an interest in precision medicines for these conditions.