Supervised machine learning algorithms have been a dominant method in the data mining field. Disease prediction using health data has recently shown a potential application area for these methods. ...This study ai7ms to identify the key trends among different types of supervised machine learning algorithms, and their performance and usage for disease risk prediction.
In this study, extensive research efforts were made to identify those studies that applied more than one supervised machine learning algorithm on single disease prediction. Two databases (i.e., Scopus and PubMed) were searched for different types of search items. Thus, we selected 48 articles in total for the comparison among variants supervised machine learning algorithms for disease prediction.
We found that the Support Vector Machine (SVM) algorithm is applied most frequently (in 29 studies) followed by the Naïve Bayes algorithm (in 23 studies). However, the Random Forest (RF) algorithm showed superior accuracy comparatively. Of the 17 studies where it was applied, RF showed the highest accuracy in 9 of them, i.e., 53%. This was followed by SVM which topped in 41% of the studies it was considered.
This study provides a wide overview of the relative performance of different variants of supervised machine learning algorithms for disease prediction. This important information of relative performance can be used to aid researchers in the selection of an appropriate supervised machine learning algorithm for their studies.
Usher syndrome, a common form of syndromic inherited retinal dystrophy in the Arabian Gulf, has not been molecularly defined in the United Arab Emirates. The current study addresses this gap in ...knowledge.PURPOSEUsher syndrome, a common form of syndromic inherited retinal dystrophy in the Arabian Gulf, has not been molecularly defined in the United Arab Emirates. The current study addresses this gap in knowledge.A retrospective case series of Emirati patients referred to the Ocular Genetics Clinic of Cleveland Clinic Abu Dhabi who (1) were clinically diagnosed with Usher syndrome and underwent genetic testing (whole exome sequencing, 2019 to 2023, inclusive) and (2) were identified to have biallelic pathogenic variants in Usher syndrome genes during the same time period.METHODSA retrospective case series of Emirati patients referred to the Ocular Genetics Clinic of Cleveland Clinic Abu Dhabi who (1) were clinically diagnosed with Usher syndrome and underwent genetic testing (whole exome sequencing, 2019 to 2023, inclusive) and (2) were identified to have biallelic pathogenic variants in Usher syndrome genes during the same time period.Ten probands (thirteen patients) were identified-seven probands (nine patients) with clinically diagnosed Usher syndrome and three additional probands (four patients) with biallelic homozygous USH2A variants. Among the seven probands initially diagnosed with Usher syndrome, six had different homozygous variants (three in MYO7A, one in ADGRV1, and one in CLRN1), one had dual diagnoses rather than Usher syndrome (i.e. separate cause for retinal dystrophy and deafness), and one had no identifiable genetic cause. Regarding the three additional probands identified with homozygous USH2A variants, all three had retinitis pigmentosa only rather than Usher syndrome and all three had different variants.RESULTSTen probands (thirteen patients) were identified-seven probands (nine patients) with clinically diagnosed Usher syndrome and three additional probands (four patients) with biallelic homozygous USH2A variants. Among the seven probands initially diagnosed with Usher syndrome, six had different homozygous variants (three in MYO7A, one in ADGRV1, and one in CLRN1), one had dual diagnoses rather than Usher syndrome (i.e. separate cause for retinal dystrophy and deafness), and one had no identifiable genetic cause. Regarding the three additional probands identified with homozygous USH2A variants, all three had retinitis pigmentosa only rather than Usher syndrome and all three had different variants.Clinically diagnosed Usher syndrome was genetically heterogenous without evidence for founder effect in this Emirati cohort. MYO7A was the most common associated gene. Dual diagnosis rather than single cause can mimic Usher syndrome. Homozygous USH2A variants were not identified as a cause for Usher syndrome in this cohort but were a recurrent cause for retinitis pigmentosa without hearing impairment and without founder effect.DISCUSSIONClinically diagnosed Usher syndrome was genetically heterogenous without evidence for founder effect in this Emirati cohort. MYO7A was the most common associated gene. Dual diagnosis rather than single cause can mimic Usher syndrome. Homozygous USH2A variants were not identified as a cause for Usher syndrome in this cohort but were a recurrent cause for retinitis pigmentosa without hearing impairment and without founder effect.
The use of advanced oxidation processes (AOPs) to integrate flue gas treatments for SO2, NOx and Hg0 into a single process unit is rapidly gaining research attention. AOPs are processes that rely on ...the generation of mainly the hydroxyl radical. This work evaluates the effectiveness of the simultaneous removal of NO and SO2 from flue gas utilizing AOP induced by the combined heat and Fe2+ activation of aqueous persulfate, and elucidates the reaction pathways. The results indicated that both SO2 in the flue gas and Fe2+ in solution improved NO removal, while the SO2 is almost completely removed. Increased temperature led to increase in NO removal in the absence and presence of both Fe2+ and SO2, and in the absence of either SO2 or Fe2+, but the enhanced NO removal due to the presence of SO2 alone dominated at all temperatures. The removal of NO increased from 77.5% at 30 °C to 80.5% and 82.3% at 50 °C and 70 °C in the presence of SO2 alone, and from 35.3% to 62.7% and 81.2%, respectively, in the presence of Fe2+ alone. However, in the presence of both SO2 and Fe2+, NO conversion is 46.2% at 30 °C, increased only slightly to 48.2% at 50 °C; but sharply increased to 78.7% at 70 °C compared to 63.9% for persulfate-only activation. Results suggest NO removal in the presence of SO2 is equally effective by heat-only or heat-Fe2+ activation as the temperature increases. The results should be useful for future developments of advanced oxidation processes for flue gas treatments.
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•Advanced oxidation process for the simultaneous removal of SO2 and NO was developed.•The process involved combined temperature and Fe2+ activation of Na2S2O8.•SO2 removal was almost 100% even at the low temperature of 30 °C.•NO removal was 79% at 70 °C, in presence of both Fe2+ and SO2.•Chemistry and reaction pathways for the combined NO/SO2 removal are proposed.
Bialleic
pathogenic variants are typically associated with severe Leber congenital amaurosis (non-recordable electroretinography ERG) and less commonly with cone-rod dystrophy. This report highlights ...isolated cone dysfunction as an alternative
-related presenting phenotype.
Retrospective case series.
Four individuals (two sibships from two unrelated families) had low vision, nystagmus, photophobia, and a grossly normal retinal appearance since soon after birth. ERG confirmed non-recordable photopic function with normal scotopic function. Genetic testing revealed affected members from the two families to harbor two different homozygous
variants (Family 1: c.3565C>T; p.Arg1189*; Family 2: c.2711_2741delinsATATTAG; p.Gly904_Lys914delinsAspIIeArg). Follow-up for Family 1 revealed deterioration of pan-retinal function (non-recordable ERGs by 11 and 7 years old) and thus a final diagnosis of cone-rod dystrophy. Follow-up for Family 2 showed stable retinal function (normal ERG scotopic tracings maintained at 12 and 21 years old) and thus a diagnosis of isolated cone dysfunction.
Isolated cone dysfunction that progresses to pan-retinal dysfunction or remains relatively stationary is an alternative phenotype related to biallelic
pathogenic variants.
Paradoxical pupillary reaction (initial pupillary constriction to darkness) has been most associated with the inherited retinal disorders congenital stationary night blindness and achromatopsia. ...However, underlying genotypes and associations with other pediatric retinal phenotypes are not well documented. A retrospective review for paradoxical pupillary reaction was performed at the Ocular Genetics Clinic of Cleveland Clinic Abu Dhabi (2016-2020). Four children from 4 different families were identified, all of whom had had genetic confirmation of the clinical diagnosis. Associated pathogenic variants were in TRPM1 (biallelic; two boys; congenital stationary night blindness), CABP4 (biallelic; one boy, congenital cone-rod synaptic disorder) and PAX2 (monoallelic; one girl, papillorenal syndrome). Genetically confirmed affected relatives of the 2 probands with TRPM1-related congenital stationary night blindness did not show the phenomenon. This study documents novel genotypes and phenotypes that can be associated with paradoxical pupillary reaction in children and confirms potential intrafamilial variable expressivity for the phenomenon.▪
Multimodal imaging and genetic testing allow sophisticated assessment of suspected inherited retinal disease. Given the availability of such technology, some question whether the full-field ...electrogram (ffERG) is needed anymore. In fact, a ffERG remains essential for certain clinical scenarios. The goal of this case-based review is to provide a clear understanding of what clinical situations warrant a ffERG. All practicing ophthalmologists should be familiar with this information.
A patient who had been diagnosed with infantile retinal dystrophy developed renal failure in his twenties, at which time the diagnosis was revised to Senior-Loken syndrome. He was poorly compliant. ...At 36 years old, he experienced a sudden drop in visual acuity in the setting of cramping and fatigue and was found to be in uremic crisis. Six months after the event and its treatment, his vision failed to improved. Optic nerve pallor was out of proportion to the retinal dystrophy, and the presumed reason for his new visual loss was uremic optic neuropathy. The patient's younger sister also had been diagnosed with infantile retinal dystrophy, and metabolic screening confirmed subclinical renal dysfunction that was to be carefully followed going forward. Infantile retinal dystrophy can be associated with later systemic disease. Early detection of such disease can potentially decrease morbidity. Patients with retinal dystrophy can develop new visual loss from causes other than the retinopathy itself.
Migraine is a devitalizing neurovascular disorder that affects millions of people worldwide. This study was directed against the determination of the effectiveness of carvacrol against migraine.
In ...silico
results revealed that carvacrol possesses specific scoring values of − 4.4 to − 6 against selected targets.
In vivo
studies showed that carvacrol (25–50 mg/Kg) decreased migraine pain by reversing thermal allodynia, mechanical allodynia, number of head-scratching, and light phobicity in rats. Levels of glutathione, glutathione-s-transferase, and catalase enhanced in the cortex and trigeminal nucleus caudalis of the animal’s brain tissues, i.e., cortex and trigeminal nucleus caudalis with the use of carvacrol, while a significant decrease in lipid peroxide level was seen. Histopathological evaluation showed improvement in cellular architecture and a decrease in expression of certain inflammatory markers such as tumor necrosis factor-alpha, nuclear factor kappa B, interleukin-18, and prostaglandin E2 validated by enzyme-linked immune sorbent assay, immunohistochemistry, and western blot analysis. This study indicates that carvacrol exhibits binding affinities against different targets involved in migraine pathology and possesses anti-migraine action, mediated through anti-inflammatory and anti-oxidant pathways.
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