Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. It is the most common form of inherited retinal dystrophy, characterized by progressive degradation of photoreceptors that ...leads to nyctalopia, and ultimately, complete vision loss. RP is distinguished by the continuous retinal degeneration that progresses from the mid-periphery to the central and peripheral retina. RP was first described and named by Franciscus Cornelius Donders in the year 1857. It is one of the leading causes of bilateral blindness in adults, with an incidence of 1 in 3000 people worldwide. In this review, we are going to focus on the genetic heterogeneity of this disease, which is provided by various inheritance patterns, numerosity of variations and inter-/intra-familial variations based upon penetrance and expressivity. Although over 90 genes have been identified in RP patients, the genetic cause of approximately 50% of RP cases remains unknown. Heterogeneity of RP makes it an extremely complicated ocular impairment. It is so complicated that it is known as "fever of unknown origin". For prognosis and proper management of the disease, it is necessary to understand its genetic heterogeneity so that each phenotype related to the various genetic variations could be treated.
Glaucoma is a series of linked optic diseases resulting in progressive vision loss and total blindness due to the acquired loss of retinal ganglion cells. This harm to the optic nerve results in ...visual impairment and, ultimately, total blindness if left untreated. Primary open-angle glaucoma (POAG) is the most frequent variety within the large family of glaucoma. It is a multifaceted and heterogeneous condition with several environmental and genetic variables aiding in its etiology. By 2040, there will be 111.8 million glaucoma patients globally, with Asia and Africa accounting for the vast majority. The goal of this review is to elaborate on the role of genes (nuclear and mitochondrial) as well as their variants in the pathogenesis of POAG. PubMed and Google Scholar databases were searched online for papers until September 2022. Prevalence and inheritance patterns vary significantly across different ethnic and geographic populations. Numerous causative genetic loci may exist; however, only a few have been recognized and characterized. Further investigation into the genetic etiology of POAG is expected to uncover novel and intriguing causal genes, allowing for a more precise pathogenesis pattern of the disease.
IVIG--a hemolytic culprit Pintova, Sofya; Bhardwaj, Aarti S; Aledort, Louis M
The New England journal of medicine,
2012-Sep-06, Letnik:
367, Številka:
10
Journal Article
Purpose: This study focused on the genetic screening of Myocilin (MYOC), Cytochrome P450 family 1 subfamily B member 1 (CYP1B1), Optineurin (OPTN), and SIX homeobox 6 (SIX6) genes in a family with ...coexistence of primary congenital glaucoma (PCG) and juvenile open-angle glaucoma (JOAG). Methods: Sanger sequencing was used to examine the coding region of all four genes. Six different online available algorithms were used for the pathogenicity prediction of missense variant. Structural analysis was done using Garnier-Osguthorpe-Robson (GOR), PyMol, ChimeraX, and Molecular Dynamic (MD) Simulations (using Graphics Processing Unit (GPU)-enabled Desmond module of Schrödinger). Results: There were a total of three sequence variants within the family. All seven algorithms determined that a single mutation, G538E, in the OPTN gene is pathogenic. The loops connecting the strands became more flexible, as predicted structurally and functionally by pathogenic mutations. Mutations create perturbations and conformational rearrangements in proteins, hence impairing their functioning. Conclusion: In this study, we describe a North Indian family in which members were having JOAG and PCG due to a rare homozygous/heterozygous mutation in OPTN. The coexistence of two types of glaucoma within a single pedigree suggests that certain OPTN mutations may be responsible for the onset of different glaucoma phenotypes.
Abstract
Introduction
Fungal disseases are the most common opportunistic infection.
Objective
The main aims of the study were to determine phenolic content and to evaluate the antioxidant and ...anti-candida activity of the selected Indian-origin plant extracts from the fruit pulp, stem, leaves, and seeds of three plants of Indian origin.
Material and methods
The extracts from
Terminalia chebula, Thuja occidentalic
and
Syzygium jambolanum
were investigated. The total phenolic content, antioxidant potential of different crude extracts was accessed using the free radical, 1,1-diphenyl-2-picrylhydrazyl (DPPH) and 2,2’-azino-bis(3-ethylbenzothiazoline-6-sulfonic acid) (ABTS). Anti-candida activity was evaluated using disk diffusion method and broth dilution assay against
Candida albicans
.
Results
Ethanol and methanol extracts of Indian traditional plants possessed high radical scavenging activity:
T. chebula
29.38±0.15,
T. occidentalis
6.26±0.24 and
S. jambolanum
25.64±0.18 at 0.32 mg/ml. The extracts exhibited good zones of inhibition diameters ranged between: for
T. chebula
6.33±0.57 mm and 19.66±1.52 mm in diameter,
S. jambolanum
7.00±00 mm and 23.33±1.52 and
T. occidentalis
7.66±0.57 and 17.00±1.00 mm.
C. albicans
were susceptible to all three tested extract at different concentrations. The lowest MIC 1.95 mg/ml was recorded with
S. jambolanum
while the
T. chebula
and
T. occidentalis
inhibited the growth at 3.90 mg/ml, respectively, against the
C. albicans
.
Conclusion
The study result paves an overall view on the bioactivities of three traditional Indian medicinal plants crude extracts.
Our institution participated in the Oncology Care Model, which required us to include many of the 13 elements of the National Academy of Medicine (NAM) care plan into care pathways for our patients. ...We optimized our existing chemotherapy consent process to meet this need and maximized completion.
Our multidisciplinary committee developed a three-phase Plan-Do-Study-Act process in our breast cancer clinic: (1) update and educate providers on our paper chemotherapy form with multiple components of the NAM care plan including prognosis and treatment effects on quality of life; (2) piloted an electronic chemotherapy consent form to decrease the administrative burden; and (3) autopopulated fields within the electronic consent. We assessed feedback after cycle 1 and created a Pareto chart. The outcome measure was percent completion of chemotherapy consent documents.
Baseline monthly random chart audit of 40 patients revealed 20% of paper chemotherapy consent forms were completed in their entirety among patients. When we re-educated clinicians about the new paper consent containing the NAM elements, compliance rose to nearly 30%. A Pareto chart confirmed that content redundancy and wordiness were leading to under-completion. After creating and piloting the electronic consent, compliance increased to 90%. Finally, autopopulation with drop-down selections increased and sustained completion to 100%.
Incorporating regulatory requirements into an existing workflow using Plan-Do-Study-Act methodology can reduce administrative burden on clinicians. Additional use of innovative technology can further increase clinician compliance with regulatory requirements while delivering high-value quality care to patients with cancer.
Osimertinib is the standard of care for the first-line treatment of EGFR-mutated NSCLC. We report a case of a 52-year-old woman who developed life-threatening myopathy because of treatment with ...osimertinib. Limited instances of myositis have been previously reported in the literature; however, none have resulted in life-threatening oropharyngeal and respiratory muscle weakness as seen in this case. Care should be taken in administering osimertinib concurrently with other medications metabolized by the CYP3A4 system, and ongoing work to identify patients at risk for severe reactions is necessary. The use of routine creatinine phosphokinase monitoring should be considered as part of oncologic management.
The grape is one of the most valued conventional fruits, worldwide. Although most of the parts of the grapevine are useful, primarily, the grape is considered as a source of unique natural products ...not only for the development of valuable medicines against a number of diseases, but also for manufacturing various industrial products. Over the last few decades, apart from the chemistry of grape compounds, considerable progress has been made towards exploring the biological activities of various grape-derived constituents. Today, it is well established that in addition to serving as food, the grape is a major source of several phytochemicals. The main biologically active and well-characterized constituent from the grape is resveratrol, which is known for various medicinal properties in human diseases. This review discusses the roles of various grape-derived phytochemicals in relation to various diseases.
The last few years have produced a revolution in the development of very sensitive, rapid, automated, molecular detection methods for a variety of various species of lactic acid bacteria (LAB) ...associated with food and dairy products. Nowadays many such strains of LAB are considered probiotics. The genome‐based methods are useful in identifying bacteria as a complementary or alternative tool to phenotypical methods. Over the years, identification methodologies using primers that target different sequences, such as the 16S ribosomal RNA (rRNA)‐encoding gene, the 16S‐23S rRNA intergenic spacer region, the 23S rRNA‐encoding, recA and ldhD genes; randomly amplified polymorphic DNA, restriction fragment length polymorphism, denaturing gradient gel electrophoresis, temperature gradient gel electrophoresis, amplification rDNA restriction analysis, restriction enzyme analysis, rRNA, pulse field gel electrophoresis and amplification fragment length polymorphism have played a significant role in probiotic bacteriology. Hence, the aim of this review is to provide an overview of some rapid and reliable polymerase chain reaction‐based molecular methods used for identifying and differentiating closely related species and strains of LAB associated with food and industry.
PDF
