The Use of Stem Cells in Burn Wound Healing: A Review

Burn wound healing involves a series of complex processes which are subject to intensive investigations to improve the outcomes, in particular, the healing time and the quality of the scar. Burn injuries, especially severe ones, are proving to have devastating effects on the affected patients. Stem cells have been recently applied in the field to promote superior healing of the wounds. Not only have stem cells been shown to promote better and faster healing of the burn wounds, but also they have decreased the inflammation levels with less scar progression and fibrosis. This review aims to highlight the beneficial therapeutic effect of stem cells in burn wound healing and to discuss the involved pathways and signaling molecules. The review covers various types of burn wound healing like skin and corneal burns, along with the alternative recent therapies being studied in the field of burn wound healing. The current reflection of the attitudes of people regarding the use of stem cells in burn wound healing is also stated

Healthcare recommendations for Joubert syndrome

Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the "Molar Tooth Sign". Although defined by the neurological features, JS is associated with clinical features affecting many other organ systems, particularly progressive involvement of the retina, kidney, and liver. JS is a rare condition; therefore, many affected individuals may not have easy access to subspecialty providers familiar with JS (e.g., geneticists, neurologists, developmental pediatricians, ophthalmologists, nephrologists, hepatologists, psychiatrists, therapists, and educators). Expert recommendations can enable practitioners of all types to provide quality care to individuals with JS and know when to refer for subspecialty care. This need will only increase as precision treatments targeting specific genetic causes of JS emerge. The goal of these recommendations is to provide a resource for general practitioners, subspecialists, and families to maximize the health of individuals with JS throughout the lifespan

Recent developments in the field of superior oblique palsies

PURPOSE OF REVIEW: The superior oblique muscle is a complex structure that evidences considerable variation in its anatomy as well as its rotational effects upon the eye. Our understanding and treatment of patients with superior oblique dysfunction are complicated by our incomplete, though developing, understanding of the sensory and motor adaptations to these dysfunctions. We review articles published over the previous year, which further our understanding of these issues. RECENT FINDINGS: A thought-provoking three-part series, using monkeys this past year, may provide some insights into time-dependent changes after superior oblique palsy as well as stimulate some interesting conjecture about what, if any, role proprioception may have in strabismus patients. There are some studies, which further our understanding of the torsional effects in superior oblique palsy, the fusional capabilities of normal and palsied patients, and the changes that our surgeries create in the torsional state of the eye. Another case of an ocular torticollis associated with plagiocephaly is presented this year. This past year also saw continuing attempts to determine the best methods for surgically correcting a superior oblique palsy. SUMMARY: Superior oblique muscle dysfunction continues to stimulate research into its complex and varied clinical manifestations. © 2008 Wolters Kluwer Health | Lippincott Williams & Wilkins

Evolution of focal choroidal excavation in ABCA4-related retinopathy

Purpose: To report long-term evolution of unilateral focal choroidal excavation in a patient with ABCA4-related retinopathy. Observations: A 51-year-old female with ABCA4-related retinopathy developed a small juxtafoveal defect in Bruch's membrane in a region of macular atrophy in her left eye. In follow-up, the defect widened and subsequently developed into a focal choroidal excavation. Over the next 8 years, serial optical coherence tomography imaging illustrated the conversion of the focal choroidal excavation from conforming subtype into non-conforming subtype with eventual macular hole formation. Conclusions and importance: The long-term follow-up of a patient with serial imaging highlights the potential dynamic nature of focal choroidal excavation in ABCA4-related retinopathy. Progressive retinal degeneration may influence focal choroidal excavation morphology and may promote macular hole formation

Delineation Of Natural History For Spinocerebellar Ataxia Type 7 (SCA-7) In Anticipation Of Rnai Therapy

"Among hereditary spinocerebellar ataxias, type 7 (SCA-7) is notable for a prominent retinal degeneration that adds blindness to the severe neurologic disabilities suffered by those affected with this disorder. Preclinical testing of RNAi therapy for SCA-7 has encouraged movement of this therapy to clinical trials in the near future. Critical to accurate evaluation of the safety and efficacy of such treatments are clear delineation of the disease natural history and of reliable quantitative outcome measures. We report the development of a single-center longitudinal natural history study emphasizing detailed evaluation of the retinal and optic nerve phenotype, and results from initial evaluation of two siblings with SCA-7.

Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies

Abstract Background Inherited Retinal dystrophy (IRD) is a broad group of inherited retinal disorders with heterogeneous genotypes and phenotypes. Next generation sequencing (NGS) methods have been broadly applied for analyzing patients with IRD. Here we report a novel approach to enrich the target gene panel by microdroplet PCR. Methods This assay involved a primer library which targeted 3071 amplicons from 2078 exons comprised of 184 genes involved in retinal function and/or retinal development. We amplified the target regions using the RainDance target enrichment PCR method and sequenced the products using the MiSeq NGS platform. Results In this study, we analyzed 82 samples from 67 families with IRD. Bioinformatics analysis indicated that this procedure was able to reach 99% coverage of target sequences with an average sequence depth of reads at 119×. The variants detected by this study were filtered, validated, and prioritized by pathogenicity analysis. Genotypes and phenotypes were correlated by determining a consistent relationship in 38 propands (56.7%). Pathogenic variants in genes related to retinal function were found in another 11 probands (16.4%), but the clinical correlations showed inconsistencies and insufficiencies in these patients. Conclusions The application of NGS in IRD clinical molecular diagnosis provides a powerful approach to exploring the etiology and pathology in patients. It is important for the clinical laboratory to interpret the molecular findings in the context of patient clinical presentations because accurate interpretation of pathogenic variants is critical for delivering solid clinical molecular diagnosis to clinicians and patients and improving the standard care of patients