抗原变异可使得多种致病微生物易于逃避宿主免疫应答。表达在感染红细胞表面的恶性疟原虫红细胞表面蛋白1（PfPMP1）与感染红细胞、内皮细胞、树突状细胞以及胎盘的单个或多个受体作用，在黏附及免疫逃避中起关键的作用。每个单倍体基因组var基因家族编码约60种成员，通过启动转录不同的var基因变异体为抗原变异提供了分子基础。

疟原虫var基因转换速率变化导致抗原变异[英]／Paul H, Robert P, Christodoulou Z, et al//Proc Natl Acad Sci U S A

Over the past decade, the Nomenclature Committee on Cell Death (NCCD) has formulated guidelines for the definition and interpretation of cell death from morphological, biochemical, and functional perspectives. Since the field continues to expand and novel mechanisms that orchestrate multiple cell death pathways are unveiled, we propose an updated classification of cell death subroutines focusing on mechanistic and essential (as opposed to correlative and dispensable) aspects of the process. As we provide molecularly oriented definitions of terms including intrinsic apoptosis, extrinsic apoptosis, mitochondrial permeability transition (MPT)-driven necrosis, necroptosis, ferroptosis, pyroptosis, parthanatos, entotic cell death, NETotic cell death, lysosome-dependent cell death, autophagy-dependent cell death, immunogenic cell death, cellular senescence, and mitotic catastrophe, we discuss the utility of neologisms that refer to highly specialized instances of these processes. The mission of the NCCD is to provide a widely accepted nomenclature on cell death in support of the continued development of the field.

https://biblio.ugent.be/publication/8555786/file/8555788.pdf

Molecular mechanisms of cell death: recommendations of the Nomenclature Committee on Cell Death 2018.

In 2009, the Nomenclature Committee on Cell Death (NCCD) proposed a set of recommendations for the definition of distinct cell death morphologies and for the appropriate use of cell death-related terminology, including 'apoptosis', 'necrosis' and 'mitotic catastrophe'. In view of the substantial progress in the biochemical and genetic exploration of cell death, time has come to switch from morphological to molecular definitions of cell death modalities. Here we propose a functional classification of cell death subroutines that applies to both in vitro and in vivo settings and includes extrinsic apoptosis, caspase-dependent or -independent intrinsic apoptosis, regulated necrosis, autophagic cell death and mitotic catastrophe. Moreover, we discuss the utility of expressions indicating additional cell death modalities. On the basis of the new, revised NCCD classification, cell death subroutines are defined by a series of precise, measurable biochemical features.

/pdf/molecular-definitions-of-cell-death-subroutines-q5g428rlyi.pdf

Molecular definitions of cell death subroutines: recommendations of the Nomenclature Committee on Cell Death 2012

Importance Glaucoma is a worldwide leading cause of irreversible vision loss. Because it may be asymptomatic until a relatively late stage, diagnosis is frequently delayed. A general understanding of the disease pathophysiology, diagnosis, and treatment may assist primary care physicians in referring high-risk patients for comprehensive ophthalmologic examination and in more actively participating in the care of patients affected by this condition. Objective To describe current evidence regarding the pathophysiology and treatment of open-angle glaucoma and angle-closure glaucoma. Evidence Review A literature search was conducted using MEDLINE, the Cochrane Library, and manuscript references for studies published in English between January 2000 and September 2013 on the topics open-angle glaucoma and angle-closure glaucoma. From the 4334 abstracts screened, 210 articles were selected that contained information on pathophysiology and treatment with relevance to primary care physicians. Findings The glaucomas are a group of progressive optic neuropathies characterized by degeneration of retinal ganglion cells and resulting changes in the optic nerve head. Loss of ganglion cells is related to the level of intraocular pressure, but other factors may also play a role. Reduction of intraocular pressure is the only proven method to treat the disease. Although treatment is usually initiated with ocular hypotensive drops, laser trabeculoplasty and surgery may also be used to slow disease progression. Conclusions and Relevance Primary care physicians can play an important role in the diagnosis of glaucoma by referring patients with positive family history or with suspicious optic nerve head findings for complete ophthalmologic examination. They can improve treatment outcomes by reinforcing the importance of medication adherence and persistence and by recognizing adverse reactions from glaucoma medications and surgeries.

https://jamanetwork.com/journals/jama/articlepdf/1869215/jrv140004.pdf

The Pathophysiology and Treatment of Glaucoma: A Review

Primary open-angle glaucoma.

Variations in the TCF8 Gene Are Associated With a Posterior Polymorphous Corneal Dystrophy Phenotype

The invention provides genes and polymorphisms associated with AMD, and methods for diagnosing an increased risk of AMD in a patient who has at least one of the AMD-associated polymorphisms as provided.

Single nucleotide polymorphisms and genes associated with age-related macular degeneration

Increased Expression of sFRP-1 in Glaucomatous Trabecular Meshwork and Presence of a Functional WNT Signaling Pathway that Regulates IOP

Alpha-gal syndrome (AGS) in a glaucoma suspect with narrow iridocorneal angles

Background: Changes in choroidal thickness are associated with various ocular diseases and the choroid can be imaged using spectral-domain optical coherence tomography (SDOCT) and enhanced depth imaging OCT (EDIOCT). New Method: Eighty macular SDOCT volumes from 80 patients were obtained using the Zeiss Cirrus machine. Eleven additional control subjects had two Cirrus scans done in one visit along with EDIOCT using the Heidelberg Spectralis machine. To automatically segment choroidal layers from the OCT volumes, our graph-theoretic approach was utilized. The segmentation results were compared with reference standards from two graders, and the accuracy of automated segmentation was calculated using unsigned to signed border positioning thickness errors and Dice similarity coefficient (DSC). The repeatability and reproducibility of our choroidal thicknesses were determined by intraclass correlation coefficient (ICC), coefficient of variation (CV), and repeatability coefficient (RC). Results: The mean unsigned to signed border positioning errors for the choroidal inner and outer surfaces are 3.39plusminus1.26microns (mean plusminus SD) to minus1.52 plusminus 1.63microns and 16.09 plusminus 6.21microns to 4.73 plusminus 9.53microns, respectively. The mean unsigned to signed choroidal thickness errors are 16.54 plusminus 6.47microns to 6.25 plusminus 9.91microns, and the mean DSC is 0.949 plusminus 0.025. The ICC (95% CI), CV, RC values are 0.991 (0.977 to 0.997), 2.48%, 3.15microns for the repeatability and 0.991 (0.977 to 0.997), 2.49%, 0.53microns for the reproducibility studies, respectively. Comparison with Existing Method(s): The proposed method outperformed our previous method using choroidal vessel segmentation and inter-grader variability. Conclusions: This automated segmentation method can reliably measure choroidal thickness using different OCT platforms.

John H. Fingert

Papers

Variations in the TCF8 Gene Are Associated With a Posterior Polymorphous Corneal Dystrophy Phenotype

Single nucleotide polymorphisms and genes associated with age-related macular degeneration

Increased Expression of sFRP-1 in Glaucomatous Trabecular Meshwork and Presence of a Functional WNT Signaling Pathway that Regulates IOP

Alpha-gal syndrome (AGS) in a glaucoma suspect with narrow iridocorneal angles

Automated segmentation of choroidal layers from 3-dimensional macular optical coherence tomography scans