299 research outputs found

    14-Bromo-12-chloro-2,16-dioxapentacyclohenicosa-3(8),10,12,14-tetraene-7,20-dione

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    In the title compound, C19H16BrClO4, both the fused xanthene rings and one of the cyclohexane rings adopt envelope conformations, while the other cyclohexane ring is in a chair conformation. In the crystal, molecules are linked by C-H...O hydrogen bonds, forming infinite chains running along [10-1] incorporating R22(16) ring motifs. In addition, C-H...[pi] interactions and weak [pi]-[pi] stacking interactions [centroid-centroid distance = 3.768 (3) Å] help to consolidate the packing

    Compound Heterozygous VSX2 Mutation Causing Bilateral Anophthalmia in a Consanguineous Egyptian Family

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    Purpose: To report the clinical and genetic study of a child with bilateral anophthalmia. Methods: A 14-year-old Egyptian boy, born from consanguineous parents, underwent a general and a full ophthalmological examination. Mutation screen of the A/M genes with recessive inheritance was done stepwise and DNA was analyzed by Sanger sequencing. Results: Bilateral anophthalmia, arachnodactyly of the feet and high arched palate were observed on general examination. The parents were first cousins and healthy. Sequencing analysis revealed a novel compound heterozygous mutation in one of the copy of exon 2 of VSX2 and a possible deletion of at least exon 2 on the other allele. Conclusions: A compound heterozygous VSX2 mutation associated with anophthalmia was identified in a patient from an Egyptian consanguineous family. This report brings the number of VSX2 mutation in anophthalmia/microphthalmia (A/M) to 13. Functional consequences of the reported changes still need to be characterized, as well as the percentage of A/M caused by mutations in the VSX2 gene. This family also shows that despite consanguinity, heterozygous mutations can also happen and one should not restrict the molecular analysis to homozygous mutations

    Functionalizing building envelopes for greening and solar energy: Between theory and the practice in Egypt

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    The building sector is one of the most resource-intensive industries. In Egypt, buildings consume 60% of electricity, produce 8% of CO2 emissions, and anthropize agricultural land, peri-urban and urban landscapes. To compensate for these consumption patterns, building envelopes can become productive in terms of greening and energy production. This encompasses the implementation of productive building systems that include (a) greening systems such as building-integrated vegetation and agriculture systems and (b) solar energy systems such as building-applied and integrated photovoltaics. For Egypt, the transformation toward more productive buildings still lacks a holistic understanding of their status and implementation requirements. This paper undergoes a comprehensive analysis of the two systems’ classifications, benefits, challenges, and implementation aspects based on a thorough assessment of 121 studies and 20 reports addressing them. This is coupled with a contextual analysis using questionnaires (n = 35) and semi-structured interviews (n = 13) with Egyptian experts and suppliers. Results showed that a large variety of systems is studied in literature and exists in the local market. Among the most purchased productive building systems in the Egyptian market, according to experts, are hydroponics (selected by 75% of respondents), planter boxes/pots (50%), roof-mounted photovoltaic panels (95%), and solar water heaters (55%). The main benefits of greening and solar energy systems are identified as enjoying the greenery view (95%) and reducing energy expenses (100%), respectively. The high initial cost was considered the main barrier for both systems. Multiple commonalities between the two systems in terms of spatial and environmental applicability aspects (e.g., accessibility and safety, net useable area, sun exposure, wind exposure) and environmental performance aspects (e.g., energy demand and emissions reduction, heat flow reduction) were identified. Lastly, we highlight the importance of analyzing integrated solutions that make use of the identified synergies between the systems and maximize the production potentials

    Deep learning-based classification of eye diseases using Convolutional Neural Network for OCT images

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    Deep learning shows promising results in extracting useful information from medical images. The proposed work applies a Convolutional Neural Network (CNN) on retinal images to extract features that allow early detection of ophthalmic diseases. Early disease diagnosis is critical to retinal treatment. Any damage that occurs to retinal tissues that cannot be recovered can result in permanent degradation or even complete loss of sight. The proposed deep-learning algorithm detects three different diseases from features extracted from Optical Coherence Tomography (OCT) images. The deep-learning algorithm uses CNN to classify OCT images into four categories. The four categories are Normal retina, Diabetic Macular Edema (DME), Choroidal Neovascular Membranes (CNM), and Age-related Macular Degeneration (AMD). The proposed work uses publicly available OCT retinal images as a dataset. The experimental results show significant enhancement in classification accuracy while detecting the features of the three listed diseases

    Applicability of PV rooftops versus agriculture rooftops in the residential buildings of Nasr city, Cairo

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    Urban rooftops in the Egyptian built environment are a clear example of a massively wasted re-source. They can contribute to energy and food production as well as increase the return on in-vestment in the real estate sector by implementing Agri and PV rooftop systems. The paper aims at tapping into the unexplored case of multi-unit residential buildings of Cairo to assess the Agri and PV systems’ applicability on their rooftops. For this purpose, it conducts a spatial analysis for one of the Cairene middle-income districts; Nasr city. Overlaying multiple layers of applicability aspects derives a conclusion about the percentage of applicable rooftops for Agri versus PV systems in the district’s different blocks typologies

    Unravelling novel microbial players in the breast tissue of TNBC patients:a meta-analytic perspective

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    Triple-negative breast cancer (TNBC) is the most aggressive subtype of breast cancer (BC), accounting for nearly 40% of BC-related deaths. Emerging evidence suggests that the breast tissue microbiome harbors distinct microbial communities; however, the microbiome specific to TNBC remains largely unexplored. This study presents the first comprehensive meta-analysis of the TNBC tissue microbiome, consolidating 16S rRNA amplicon sequencing data from 200 BC samples across four independent cohorts. Our analysis highlights the enrichment of Azospirillum genus as well as butyrate-producing species, namely Gemmiger formicilis and Anaerobutyricum soehngenii, potentially influencing TNBC aggressiveness and clinical outcomes. Additionally, our functional analyses reveal the involvement of the TNBC microbiome in several pathways associated with chronic inflammation, increased cellular proliferation, invasion, and metastasis. This study uncovers novel microbial players in TNBC that could explain its aggressiveness and poor prognosis, and warrants further investigation into microbiome-driven interventions

    Impact of Graded Motor Imagery Training Paradigm on Shoulder Pain and Quality of Life in Patients with Chronic Stroke

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    Background: Stroke is a major cause that affect quality of human being all over the universe. The most significant component of upper- extremity problems leading to disability is shoulder pain. The shoulder joint has a great range of movement and minimal joint stability that is susceptible to a number of post-stroke problems, including joint pain, subluxation, and restricted range of motion. Purpose: The study was conducted to examine the impact of graded motor imagery training on shoulder pain as well as quality of life after stroke. Subjects: Forty-two patients with chronic stroke were included in the study. Patients have been selected from Merit university outpatient clinic. Methods: Patients in this study were randomized into 2 groups; Group (A) study groups: 21 patients were given Graded motor imagery training paradigm and traditional therapy (take-oriented active/passive range of motion training), while Group (B) control group: 21   patients were received task-oriented active/passive range of motion training only. Results: A significant improvement on shoulder pain as well as quality of life in group A compared with group B. (p<0.05). Mean values of KVIQ scale after therapy were 4.71 and 4.48 in groups A and B. Mean values of active shoulder flexion ROM after therapy were 169.86 and 163.05 in groups A and B. Mean values of the Shoulder Pain and Disability Index (SPADI) after therapy were 19.19 and 25.43 in groups A and B. Mean values of time selection of affected side (sec) after therapy were1.59 and 1.85 in groups A and B. Mean values of accuracy of response of affected side were 98.81 and 94.52 in groups A and B.  Conclusion: Graduated motor imagery training improved quality of life and reduced shoulder pain in patients with chronic stroke, according to the study, and may be useful adjuncts to conventional physical therapy protocols to improve shoulder function. DOI: https://doi.org/10.52783/jchr.v14.i5.619

    Anti-Obesity Evaluation of Averrhoa carambola L. Leaves and Assessment of Its Polyphenols as Potential α-Glucosidase Inhibitors

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    Averrhoa carambola L. is reported for its anti-obese and anti-diabetic activities. The present study aimed to investigate its aqueous methanol leaf extract (CLL) in vivo anti-obese activity along with the isolation and identification of bioactive compounds and their in vitro α-glucosidase inhibition assessment. CLL improved all obesity complications and exhibited significant activity in an obese rat model. Fourteen compounds, including four flavone glycosides (1–4) and ten dihydrochalcone glycosides (5–12), were isolated and identified using spectroscopic techniques. New compounds identified in planta included (1) apigenin 6-C-(2-deoxy-β-D-galactopyranoside)-7-O-β-D-quinovopyranoside, (8) phloretin 3′-C-(2-O-(E)-cinnamoyl-3-O-β-D-fucopyranosyl-4-O-acetyl)-β-D-fucopyranosyl-6′-O-β-D fucopyranosyl-(1/2)-α-L arabinofuranoside, (11a) phloretin3′-C-(2-O-(E)-p-coumaroyl-3-O-β-D-fucosyl-4-O-acetyl)-β-D-fucosyl-6′-O-(2-O-β-D-fucosyl)-α-L-arabinofuranoside, (11b) phloretin3′-C-(2-O-(Z)-p-coumaroyl-3-O-β-D-fucosyl-4-O-acetyl)-β-D-fucosyl-6′-O-(2-O-β-D-fucosyl)-α-L-arabinofuranoside. Carambolaside M (5), carambolaside Ia (6), carambolaside J (7), carambolaside I (9), carambolaside P (10a), carambolaside O (10b), and carambolaside Q (12), which are reported for the first time from A. carambola L. leaves, whereas luteolin 6-C-α-L-rhamnopyranosyl-(1-2)-β-D-fucopyranoside (2), apigenin 6-C-β-D-galactopyranoside (3), and apigenin 6-C-α-L-rhamnopyranosyl-(1-2)-β-L-fucopyranoside (4) are isolated for the first time from Family. Oxalidaceae. In vitro α-glucosidase inhibitory activity revealed the potential efficacy of flavone glycosides, viz., 1, 2, 3, and 4 as antidiabetic agents. In contrast, dihydrochalcone glycosides (5–11) showed weak activity, except for compound 12, which showed relatively strong activity

    RAX and anophthalmia in humans: Evidence of brain anomalies

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    PURPOSE: To report the clinical and genetic study of two families of Egyptian origin with clinical anophthalmia. To further determine the role of the retina and anterior neural fold homeobox gene (RAX) in anophthalmia and associated cerebral malformations. METHODS: Three patients with clinical anophthalmia and first-degree relatives from two consanguineous families of Egyptian origin underwent full ophthalmologic, general and neurologic examination, and blood tests. Cerebral magnetic resonance imaging (MRI) was performed in the index cases of both families. Genomic DNA was prepared from venous leukocytes, and direct sequencing of all the exons and intron-exon junctions of RAX was performed after PCR amplification. RESULTS: Clinical bilateral anophthalmia was observed in all three patients. General and neurologic examinations were normal; obesity and delay in psychomotor development were observed in the isolated case. Orbital MRI showed a hypoplastic orbit with present but rudimentary extraocular muscles and normal lacrimal glands. Cerebral MRI showed agenesis of the optic nerves, optic tracts, and optic chiasma. In the index case of family A, the absence of the frontal and sphenoidal sinuses was also noted. In the index case of family B, only the sphenoidal sinus was absent, and there was significant cortical atrophy. The three patients carried a novel homozygous c.543+3A>G mutation (IVS2+3A>G) in RAX. Parents were healthy heterozygous carriers. No mutations were detected in orthodenticle homeobox 2 (OTX2), ventral anterior homeobox 1 (VAX1), or sex determining region Y-box 2 (SOX2). CONCLUSIONS: This is the first report of a homozygous splicing RAX mutation associated with autosomal recessive bilateral anophthalmia. To our knowledge, only two isolated cases of anophthalmia, three null and one missense case affecting nuclear localization or the DNA-binding homeodomain, have been found to be caused by compound heterozygote RAX mutations. A novel missense RAX mutation was identified in three patients with bilateral anophthalmia and a distinct systemic and neurologic phenotype. The mutation potentially affects splicing of the last exon and is thought to result in a protein that has an aberrant homeodomain and no paired-tail domain. Functional consequences of this change still need to be characterized
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