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Ophthalmology and Therapy Dec 2023Age-related macular degeneration (AMD) is a leading cause of severe vision loss worldwide, with a global prevalence that is predicted to substantially increase.... (Review)
Review
Age-related macular degeneration (AMD) is a leading cause of severe vision loss worldwide, with a global prevalence that is predicted to substantially increase. Identifying early biomarkers indicative of progression risk will improve our ability to assess which patients are at greatest risk of progressing from intermediate AMD (iAMD) to vision-threatening late-stage AMD. This is key to ensuring individualized management and timely intervention before substantial structural damage. Some structural biomarkers suggestive of AMD progression risk are well established, such as changes seen on color fundus photography and more recently optical coherence tomography (drusen volume, pigmentary abnormalities). Emerging biomarkers identified through multimodal imaging, including reticular pseudodrusen, hyperreflective foci, and drusen sub-phenotypes, are being intensively explored as risk factors for progression towards late-stage disease. Other structural biomarkers merit further research, such as ellipsoid zone reflectivity and choriocapillaris flow features. The measures of visual function that best detect change in iAMD and correlate with risk of progression remain under intense investigation, with tests such as dark adaptometry and cone-specific contrast tests being explored. Evidence on blood and plasma markers is preliminary, but there are indications that changes in levels of C-reactive protein and high-density lipoprotein cholesterol may be used to stratify patients and predict risk. With further research, some of these biomarkers may be used to monitor progression. Emerging artificial intelligence methods may help evaluate and validate these biomarkers; however, until we have large and well-curated longitudinal data sets, using artificial intelligence effectively to inform clinical trial design and detect outcomes will remain challenging. This is an exciting area of intense research, and further work is needed to establish the most promising biomarkers for disease progression and their use in clinical care and future trials. Ultimately, a multimodal approach may yield the most accurate means of monitoring and predicting future progression towards vision-threatening, late-stage AMD.
PubMed: 37773477
DOI: 10.1007/s40123-023-00807-9 -
Progress in Retinal and Eye Research Jul 2023Duchenne muscular dystrophy (DMD) is caused by X-linked inherited or de novo DMD gene mutations predominantly affecting males who develop early-onset muscle... (Review)
Review
Duchenne muscular dystrophy (DMD) is caused by X-linked inherited or de novo DMD gene mutations predominantly affecting males who develop early-onset muscle degeneration, severely affecting their quality of life and leading to reduced life expectancy. DMD patients may also develop proliferative retinopathy, cataract, ERG abnormalities, altered contrast sensitivity, color vision losses, and elevated flash detection thresholds during dark adaptation. Depending on the position of the genetic alteration in the large DMD gene, it is associated with a lack of the full-length dystrophin protein possibly with an additional loss of one or several other dystrophins, which are normally transcribed from internal promoters in retina and crystalline lens. During the last decades, the properties of the dystrophins have been characterized in patients with different genetic alterations and in genetic mouse models of DMD. The complex expression pattern of the dystrophins in photoreceptors, Müller glial cells and astrocytes, likely influences synaptic transmission, ionic balance and vascular integrity of the retina. However, the specific function of each retinal dystrophin remains largely unknown. This review describes the current knowledge on dystrophin expression, the putative molecular, structural, and physiological properties of retinal dystrophins, and the main clinical implications associated with the loss of dystrophins in DMD patients and mouse models. Current data and working hypotheses warrant future research on retinal dystrophins to increase our understanding of dystrophin function in the central nervous system in general and to unveil new retinal mechanisms and therapeutic avenues for retinal diseases.
Topics: Male; Mice; Animals; Dystrophin; Muscular Dystrophy, Duchenne; Quality of Life; Retina; Retinal Diseases
PubMed: 36404230
DOI: 10.1016/j.preteyeres.2022.101137 -
The International Journal of... May 2024It is incumbent upon our profession to reevaluate our preference for routinely replacing a missing single maxillary incisor, especially a maxillary lateral incisor, with...
It is incumbent upon our profession to reevaluate our preference for routinely replacing a missing single maxillary incisor, especially a maxillary lateral incisor, with a dental implant in a young adult. The dental literature is replete with beautiful restorative results using implants in this area, but there is minimal discussion regarding the long-term consequences of this treatment. The maxillary lateral incisor is one of the most commonly missing teeth due to agenesis, and it is also one of the most common teeth to be lost due to trauma in the developing child.1 Therefore, the decision for replacement must be made with the long-term in mind, as these restorations are commonly placed between ages 18 and 21 and must serve the patient for many decades. There are several reasons that implants can be associated with complications or even fail, including the following: (1) Continued craniofacial growth, which has a predominant anterior and vertical component and has been shown to occur in the maxilla, resulting in the apparent submersion of the implant crown as the natural teeth move incisally in relation to the implant2,3-there is no evidence that this can be predicted, let alone how far into the future it may happen; (2) peri-implantitis, which has a patient-level prevalence estimate of nearly 25% according to the findings of a recent systematic review;4 (3) thinning and recession of the peri-implant mucosa due to poor implant placement, inadequate prosthetic management, and/or poor case selection, often resulting in compromised esthetics and a predisposition for the onset and progression of peri-implant diseases; and (4) mechanical failure of the implant, abutment screw, transmucosal abutment, and/or crown. Clinicians should also keep in mind that, once an implant is placed in the anterior maxilla, it precludes the possibility for palatal expansion in the adult patient because the space created by the expansion cannot be redistributed orthodontically. Canine substitution is one traditional method for replacement of the missing maxillary lateral incisor. It is still a viable option when the canine tooth has an acceptable shape and color, and the occlusion will not be compromised by the substitution.5 Additionally, the bonded single-wing zirconia bridge has become a primary treatment option.6 Zirconia has the strength of metal and beauty of porcelain, which makes it an ideal substrate for a bonded bridge. The literature has demonstrated the long-term success of this replacement option for the missing maxillary incisor.7 There are clearly many potential long-term disadvantages associated with replacing a single missing maxillary incisor with an implant in young adults. We should be prescribing the least-invasive treatment option for the replacement of these teeth. Therefore, when treatment-planning for a missing maxillary incisor in a young adult, alternatives to implant therapy-such as the bonded single-wing zirconia bridge and canine substitution-should be the primary treatment options. The implant should only be considered as a secondary treatment when the other options are not viable or have previously failed.
Topics: Humans; Incisor; Maxilla; Dental Implants, Single-Tooth; Anodontia; Young Adult; Dental Prosthesis, Implant-Supported; Peri-Implantitis
PubMed: 38787712
DOI: 10.11607/prd.2024.3.e -
Medicine Aug 2023To investigate the value and accuracy of prenatal GE-E10 ultrasound Equipment in predicting fetal abnormal development. 160 pregnant women and women who received...
To investigate the value and accuracy of prenatal GE-E10 ultrasound Equipment in predicting fetal abnormal development. 160 pregnant women and women who received prenatal ultrasound examination were selected. Before delivery, all pregnant women were examined by conventional two-dimensional and four-dimensional (4D) ultrasound. 18 fetuses with abnormal development were detected by gold standard in 160 pregnant women. Sensitivity and specificity of two-dimensional color ultrasound in diagnosing fetal abnormal development were 78.38% and 82.60%. The sensitivity and specificity of 4D color ultrasound in diagnosing fetal abnormal development were 81.15% and 83.43%. ROC showed that the AUC (0.873) of 4D color ultrasound was higher than that of two-dimensional color ultrasound (0.827). The diagnostic efficiency of 4D ultrasound is greater. The accuracy, specificity and sensitivity of 4D color ultrasound in the diagnosis of fetal abnormal development is high, and it is valuable for prenatal screening of macrosomia and low birth weight.
Topics: Pregnancy; Female; Humans; Ultrasonography, Prenatal; Fetal Development; Fetal Macrosomia; Ultrasonography; Fetus
PubMed: 37565886
DOI: 10.1097/MD.0000000000034553 -
BMC Plant Biology Jul 2023The structural basis of chloroplast and the regulation of chloroplast biogenesis remain largely unknown in maize. Gene mutations in these pathways have been linked to...
BACKGROUND
The structural basis of chloroplast and the regulation of chloroplast biogenesis remain largely unknown in maize. Gene mutations in these pathways have been linked to the abnormal leaf color phenotype observed in some mutants. Large scale structure variants (SVs) are crucial for genome evolution, but few validated SVs have been reported in maize and little is known about their functions though they are abundant in maize genomes.
RESULTS
In this research, a spontaneous maize mutant, pale green leaf-shandong (pgl-sd), was studied. Genetic analysis showed that the phenotype of pale green leaf was controlled by a recessive Mendel factor mapped to a 156.8-kb interval on the chromosome 1 delineated by molecular markers gy546 and gy548. There were 7 annotated genes in this interval. Reverse transcription quantitative PCR analysis, SV prediction, and de novo assembly of pgl-sd genome revealed that a 137.8-kb deletion, which was verified by Sanger sequencing, might cause the pgl-sd phenotype. This deletion contained 5 annotated genes, three of which, including Zm00001eb031870, Zm00001eb031890 and Zm00001eb031900, were possibly related to the chloroplast development. Zm00001eb031870, encoding a Degradation of Periplasmic Proteins (Deg) homolog, and Zm00001eb031900, putatively encoding a plastid pyruvate dehydrogenase complex E1 component subunit beta (ptPDC-E1-β), might be the major causative genes for the pgl-sd mutant phenotype. Plastid Degs play roles in protecting the vital photosynthetic machinery and ptPDCs provide acetyl-CoA and NADH for fatty acid biosynthesis in plastids, which were different from functions of other isolated maize leaf color associated genes. The other two genes in the deletion were possibly associated with DNA repair and disease resistance, respectively. The pgl-sd mutation decreased contents of chlorophyll a, chlorophyll b, carotenoids by 37.2%, 22.1%, and 59.8%, respectively, and led to abnormal chloroplast. RNA-seq revealed that the transcription of several other genes involved in the structure and function of chloroplast was affected in the mutant.
CONCLUSIONS
It was identified that a 137.8-kb deletion causes the pgl-sd phenotype. Three genes in this deletion were possibly related to the chloroplast development, which may play roles different from that of other isolated maize leaf color associated genes.
Topics: Zea mays; Plant Proteins; Chlorophyll A; Photosynthesis; Chlorophyll; Chloroplasts; Phenotype; Plant Leaves; Mutation; Gene Expression Regulation, Plant
PubMed: 37452313
DOI: 10.1186/s12870-023-04360-2 -
International Journal of Impotence... May 2024Varicoceles are a common condition affecting up to 15% of men in the general population, and up to 40% of men with infertility. A varicocele is an abnormal dilation of... (Review)
Review
Varicoceles are a common condition affecting up to 15% of men in the general population, and up to 40% of men with infertility. A varicocele is an abnormal dilation of the veins within the scrotum, which can lead to reduced sperm production and testicular damage, resulting in infertility. Despite the prevalence of varicoceles, much remains to be discovered about their diagnosis, treatment, and long-term impact. Varicoceles are considered the 'holy grail' of Andrology because they represent a complex, multifactorial condition that requires a comprehensive approach to diagnosis and treatment. While surgical repair of varicoceles has been shown to improve fertility outcomes in some cases, there is still debate about the best approach to diagnosis and treatment, and long-term outcomes are not well understood. Advances in diagnostic imaging, such as color Doppler ultrasound, have improved our ability to identify varicoceles, but more research is needed to fully understand the impact of this condition on male fertility and overall health. As such, varicoceles represent an ongoing area of investigation in Andrology with much progress to be made in terms of diagnosis, treatment, and long-term impact.
PubMed: 37069437
DOI: 10.1038/s41443-023-00696-3 -
Schmerz (Berlin, Germany) Feb 2024The rare Dunbar syndrome or medial arcuate ligament syndrome (MALS) is defined as compression of the celiac trunk and/or ganglion by the medial arcuate ligament. It is... (Review)
Review
The rare Dunbar syndrome or medial arcuate ligament syndrome (MALS) is defined as compression of the celiac trunk and/or ganglion by the medial arcuate ligament. It is often diagnosed after patients have suffered for a long time and is characterized by intermittent food-related pain, nausea, and unexplained weight loss. After exclusion of other causes of the above symptoms by gastroscopy, colonoscopy, CT, or MRI, the gold standard for diagnosis is dynamic color-coded duplex sonography, which may be supplemented by CT or MR angiography. The treatment of choice is a laparoscopic division of the arcuate ligament at the celiac trunk, although percutaneous transluminal angioplasty (PTA) with stent implantation may be performed in cases of postoperative persistence of symptoms or recurrent stenosis. Since symptoms persist postoperatively in up to 50% of cases, strict indication and complete diagnosis in designated centers are of great importance for successful treatment.
Topics: Humans; Median Arcuate Ligament Syndrome; Celiac Artery; Laparoscopy; Constriction, Pathologic; Abdominal Pain
PubMed: 37989790
DOI: 10.1007/s00482-023-00766-x -
Animal Reproduction 2023The population of jaguars in the Caatinga is less than 250 individuals, subdivided into five subpopulations, and is classified as endangered regarding its risk of...
The population of jaguars in the Caatinga is less than 250 individuals, subdivided into five subpopulations, and is classified as endangered regarding its risk of extinction. Luisa, a 15-year-old female weighing 36 kg, was the last known jaguar from this biome. Her reproductive evaluation is detailed in this manuscript. Luisa was subjected to both a clinical and laparoscopic evaluation of her reproductive system. After 45 days of reproductive investigation, she died unexpectedly, and skin fragments were taken to establish the fibroblast lineage. At the clinical evaluation, Luisa had small, undeveloped mammary gland and a small vulva, characteristic of a nulliparous female, with no mammary gland nodules, edema, or abnormal masses. By laparoscopy, normal-appearing bladder and bowel loops were observed, as were uterine horns with standard color, shape, and length with no striae. Ovaries and uterine horns seem free of fibrinous adhesions. Both ovaries showed a yellowish color, a fibrous consistency, a decreased size (atrophied), and no follicles, hemorrhagic corpus, corpus luteum, luteal scars, or other abnormal structures. We may assume that this jaguar female was infertile based on Luisa's mature age and the absence of birthing or ovarian activity signs. The harsh conditions of the Caatinga biome, which included low food availability and frequent conflicts with humans, may have impacted both the pregnancy and lactation of Luisa's mother and her development after birth.
PubMed: 38074941
DOI: 10.1590/1984-3143-AR2023-0090 -
Sensors (Basel, Switzerland) Aug 2023Capsule endoscopy (CE) is a widely used medical imaging tool for the diagnosis of gastrointestinal tract abnormalities like bleeding. However, CE captures a huge number... (Review)
Review
Capsule endoscopy (CE) is a widely used medical imaging tool for the diagnosis of gastrointestinal tract abnormalities like bleeding. However, CE captures a huge number of image frames, constituting a time-consuming and tedious task for medical experts to manually inspect. To address this issue, researchers have focused on computer-aided bleeding detection systems to automatically identify bleeding in real time. This paper presents a systematic review of the available state-of-the-art computer-aided bleeding detection algorithms for capsule endoscopy. The review was carried out by searching five different repositories (Scopus, PubMed, IEEE Xplore, ACM Digital Library, and ScienceDirect) for all original publications on computer-aided bleeding detection published between 2001 and 2023. The Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA) methodology was used to perform the review, and 147 full texts of scientific papers were reviewed. The contributions of this paper are: (I) a taxonomy for computer-aided bleeding detection algorithms for capsule endoscopy is identified; (II) the available state-of-the-art computer-aided bleeding detection algorithms, including various color spaces (RGB, HSV, etc.), feature extraction techniques, and classifiers, are discussed; and (III) the most effective algorithms for practical use are identified. Finally, the paper is concluded by providing future direction for computer-aided bleeding detection research.
Topics: Humans; Capsule Endoscopy; Computers; Computer Systems; Algorithms; Hemorrhage
PubMed: 37631707
DOI: 10.3390/s23167170 -
The Indian Journal of Radiology &... Jul 2023This article determines the association and diagnostic effectiveness of abnormal Doppler and abnormal amniotic fluid volume (AFV) in the third trimester of pregnancy...
This article determines the association and diagnostic effectiveness of abnormal Doppler and abnormal amniotic fluid volume (AFV) in the third trimester of pregnancy with preterm births. The third trimester screening protocol of the Samrakshan program of the Indian Radiological and Imaging Association utilizes trimester-specific fetal Doppler studies and ultrasound assessments, estimation of the risk for preterm preeclampsia (PE), assessment of the fetal environment, growth, and structure, and staging of fetal growth restriction. A multivariate logistic regression model was used to explore associations of abnormal Doppler and AFV with preterm birth. The diagnostic effectiveness of Doppler and amniotic fluid measurements for preterm births was assessed. One hundred and sixty-one (25.6%) of the 630 women had a preterm birth before 37 gestational weeks. Eighty (21.1%) of the 379 women with normal AFV and normal fetal Doppler studies in the third trimester had a preterm birth. The proportion of preterm birth declined from 35.14% in 2019 to 19.53% in 2022 (chi-square test = 0.009). Preterm birth was associated with preterm PE (adjusted odds ratio: 3.66, 95% confidence interval: 1.42, 9.44) in a multivariate logistic regression model. Both abnormal fetal Doppler and AFV did not have a good discriminatory ability for preterm births. Integration of fetal Doppler studies helped reduce the preterm birth rate by providing an objective measure of fetal well-being, contrary to a common belief that the use of color Doppler in the third trimester may result in iatrogenic increased preterm birth. Preterm births are associated with preterm PE and early identification of high-risk women and early initiation of low-dose aspirin may have an added benefit on preterm birth rates.
PubMed: 37362367
DOI: 10.1055/s-0043-1764465