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Compound Presentation

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1. A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome: Case report. (PubMed)

A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome: Case report. Bartter syndrome is an autosomal-recessive inherited disease in which patients present with hypokalemia and metabolic alkalosis. We present 1 case with Bartter syndrome, due to a novel compound heterozygous mutation in the KCNJ1 gene encoding the ATP-sensitive inward rectifier potassium channel in the thick ascending limb of the loop of Henle.A patient was admitted to our hospital because (...) of weakness, polyuria, and polydipsia. At presentation to our hospital, the female Chinese patient was 34 years old and her physical examination was normal. Laboratory studies revealed hypokalemia, metabolic alkalosis, hypercalciuria, hyperparathyroidemia, and hyper-reninemia. In addition, urinary potassium was obviously higher. Computer tomography scan confirmed the patient had the bilateral medullary nephrocalcinosis.Blood samples were received from the patient and her parents, and deoxyribonucleic acid

2019 Medicine

2. SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report. (PubMed)

SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report. Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, cataract and band keratopathy. To date, almost all mutations have been found (...) to be homozygous mutations located in exons.We performed direct nucleotide sequencing analysis of exons and exon-intron boundary regions of the SLC4A4 in a patient presenting with severe renal proximal tubule acidosis, glaucoma and intellectual disability and her parents without these signs. The examination revealed compound heterozygous mutations in exon-intron boundary regions, c.1076 + 3A > C and c.1772 - 2A > T, neither of which have been reported previously. While the former mutation was found

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2018 BMC Medical Genetics

3. Large unexplained suite of chemically reactive compounds present in ambient air due to biomass fires (PubMed)

Large unexplained suite of chemically reactive compounds present in ambient air due to biomass fires Biomass fires impact global atmospheric chemistry. The reactive compounds emitted and formed due to biomass fires drive ozone and organic aerosol formation, affecting both air quality and climate. Direct hydroxyl (OH) Reactivity measurements quantify total gaseous reactive pollutant loadings and comparison with measured compounds yields the fraction of unmeasured compounds. Here, we quantified (...) the magnitude and composition of total OH reactivity in the north-west Indo-Gangetic Plain. More than 120% increase occurred in total OH reactivity (28 s-1 to 64 s-1) and from no missing OH reactivity in the normal summertime air, the missing OH reactivity fraction increased to ~40 % in the post-harvest summertime period influenced by large scale biomass fires highlighting presence of unmeasured compounds. Increased missing OH reactivity between the two summertime periods was associated with increased

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2018 Scientific reports

4. In Vivo Study on Analgesic, Muscle-Relaxant, Sedative Activity of Extracts of Hypochaeris radicata and In Silico Evaluation of Certain Compounds Present in This Species (PubMed)

In Vivo Study on Analgesic, Muscle-Relaxant, Sedative Activity of Extracts of Hypochaeris radicata and In Silico Evaluation of Certain Compounds Present in This Species Hypochaeris radicata (flatweed) from the family Asteraceae is a medicinal plant found in Europe, Middle East, and India. In folkloric medication, it is used to heal jaundice, dyspepsia, constipation, rheumatism, and hypoglycemia as well as renal problems. Leaves and roots of the plant have antioxidant and antibacterial (...) and fractions was assessed by acetic acid-induced writhing test. The muscle-relaxant activity was examined by standard inclined-plane test and traction test. Sedative potential of extract/fractions was assessed by using standard white wood procedures. Furthermore, docking analysis of two compounds present in the ethyl acetate fraction of the plant was assessed against 3D cyclooxygenase-1 and -2 (COX-1 and COX-2).The extract/fractions of H. radicata showed significant analgesic effect in in vivo model

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2018 BioMed research international

5. Friedreich's Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases (PubMed)

Friedreich's Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases Friedreich's ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years. Nearly 95-98% of patients are homozygous for a 90-1300 GAA repeat expansion with only 2-5 (...) % demonstrating compound heterozygosity. Compound heterozygous individuals have a repeat expansion in one allele and a point mutation/deletion/insertion in the other. Compound heterozygosity and point mutations are very rare causes of Friedreich's ataxia and nonsense mutations are a further rarity among point mutations. We report a rare compound heterozygous Friedrich's ataxia patient who was found to have one expanded GAA FXN allele and a nonsense point mutation in the other. We summarize the four previously

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2018 Case reports in neurological medicine

6. Erratum for Nagesh et al., phytochemical analysis and docking study of compounds present in a polyherbal preparation used in the treatment of dermatophytosis (PubMed)

Erratum for Nagesh et al., phytochemical analysis and docking study of compounds present in a polyherbal preparation used in the treatment of dermatophytosis [This corrects the article DOI: 10.29252/cmm.3.4.6.].

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2018 Current Medical Mycology

7. Evaluation of Volatile Organic Compounds and Carbonyl Compounds Present in the Cabins of Newly Produced, Medium- and Large-Size Coaches in China (PubMed)

Evaluation of Volatile Organic Compounds and Carbonyl Compounds Present in the Cabins of Newly Produced, Medium- and Large-Size Coaches in China An air-conditioned coach is an important form of transportation in modern motorized society; as a result, there is an increasing concern of in-vehicle air pollution. In this study, we aimed to identify and quantify the levels of volatile organic compounds (VOCs) and carbonyl compounds (CCs) in air samples collected from the cabins of newly produced

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2016 International journal of environmental research and public health

8. Phytochemical analysis and docking study of compounds present in a polyherbal preparation used in the treatment of dermatophytosis (PubMed)

Phytochemical analysis and docking study of compounds present in a polyherbal preparation used in the treatment of dermatophytosis Soleshine is a polyherbal preparation established in the market for the treatment of cracks and tinea pedis, which is applied externally. This preparation is composed of the extracts of indigenous plants, namely Azadirachta indica, Lawsonia alba, and Shorea robusta, mixed with castor oil and sesame oil. In the present study, an attempt was made to identify (...) 3,7-dimethyl-2,6-octadienaland 2-pentene-2-methyl were the major compounds. Regarding 3,7-dimethyl-2,6-octadienal, the covered area and height were 40.15% and 46.17%, respectively. These values were 31.90% and 23.33% for 2-pentene-2-methyl, respectively. These two major compounds had an excellent binding affinity and obeyed the rules for the drug likeness and lead likeness.As the findings indicated, the two major ingredients present in soleshine showed a good antifungal activity as they inhibited

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2017 Current Medical Mycology

9. Compound Stimulus Presentation Does Not Deepen Extinction in Human Causal Learning (PubMed)

Compound Stimulus Presentation Does Not Deepen Extinction in Human Causal Learning Models of associative learning have proposed that cue-outcome learning critically depends on the degree of prediction error encountered during training. Two experiments examined the role of error-driven extinction learning in a human causal learning task. Target cues underwent extinction in the presence of additional cues, which differed in the degree to which they predicted the outcome, thereby manipulating (...) outcome expectancy and, in the absence of any change in reinforcement, prediction error. These prediction error manipulations have each been shown to modulate extinction learning in aversive conditioning studies. While both manipulations resulted in increased prediction error during training, neither enhanced extinction in the present human learning task (one manipulation resulted in less extinction at test). The results are discussed with reference to the types of associations that are regulated

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2017 Frontiers in psychology

10. Ionic-Liquid-Mediated Extraction and Separation Processes for Bioactive Compounds: Past, Present, and Future Trends (PubMed)

Ionic-Liquid-Mediated Extraction and Separation Processes for Bioactive Compounds: Past, Present, and Future Trends Ionic liquids (ILs) have been proposed as promising media for the extraction and separation of bioactive compounds from the most diverse origins. This critical review offers a compilation on the main results achieved by the use of ionic-liquid-based processes in the extraction and separation/purification of a large range of bioactive compounds (including small organic extractable (...) compounds from biomass, lipids, and other hydrophobic compounds, proteins, amino acids, nucleic acids, and pharmaceuticals). ILs have been studied as solvents, cosolvents, cosurfactants, electrolytes, and adjuvants, as well as used in the creation of IL-supported materials for separation purposes. The IL-based processes hitherto reported, such as IL-based solid-liquid extractions, IL-based liquid-liquid extractions, IL-modified materials, and IL-based crystallization approaches, are here reviewed

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2017 Chemical reviews

11. Character Decomposition and Transposition Processes of Chinese Compound Words in Rapid Serial Visual Presentation (PubMed)

Character Decomposition and Transposition Processes of Chinese Compound Words in Rapid Serial Visual Presentation Character order information is encoded at the initial stage of Chinese word processing, however, its time course remains underspecified. In this study, we assess the exact time course of the character decomposition and transposition processes of two-character Chinese compound words (canonical, transposed, or reversible words) compared with pseudowords using dual-target rapid serial (...) visual presentation (RSVP) of stimuli appearing at 30 ms per character with no inter-stimulus interval. The results indicate that Chinese readers can identify words with character transpositions in rapid succession; however, a transposition cost is involved in identifying transposed words compared to canonical words. In RSVP reading, character order of words is more likely to be reversed during the period from 30 to 180 ms for canonical and reversible words, but the period from 30 to 240 ms

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2017 Frontiers in psychology

12. Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene (PubMed)

Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of GM2 ganglioside in endolysosomes and its presentation to β-hexosaminidase A. Conversely GM2AP deficiency impairs lysosomal (...) catabolism of GM2 ganglioside, leading to its storage in cells and tissues. We describe a 9-year-old child with an unusual juvenile clinical onset of GM2-gangliosidosis AB. At the age of 3 years he presented with global developmental delay, progressive epilepsy, intellectual disability, axial hypertonia, spasticity, seizures and ataxia, but without the macular cherry-red spots typical for GM2 gangliosidosis. Brain MRI detected a rapid onset of diffuse atrophy, whereas whole exome sequencing showed

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2017 Molecular genetics and metabolism reports

13. A cell-based high-throughput screening assay system for inhibitor compounds of antigen presentation by HLA class II molecule (PubMed)

A cell-based high-throughput screening assay system for inhibitor compounds of antigen presentation by HLA class II molecule A number of autoimmune diseases are associated with the genotypes of human leukocyte antigen class II (HLA), some of which present peptides derived from self-proteins, resulting in clonal expansion of self-reactive T cells. Therefore, selective inhibition of self-peptide loading onto such disease-associated HLA could ameliorate the diseases. To effectively identify (...) such compounds, in this study, we established, for the first time, a cell- and 96-well microplate-based high-throughput screening system for inhibitors of antigen presentation. A panel of DRB1 genes plus DRA*01:01 gene were expressed in HEK293T cells and in 3T3 cells, and their binding with biotinylated known self-antigen peptides was measured by flow cytometry. HLA-DR1 (DRB1*01:01) and DR15 (DRB1*15:01) showed a high affinity with myelin basic protein peptide (MBP83-98). Therefore, in 96-well plate wells

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2017 Scientific reports

14. Evaluation of the Availability and Antioxidant Capacity of Maillard Compounds Present in Bread Crust: Studies in Caco-2 Cells (PubMed)

Evaluation of the Availability and Antioxidant Capacity of Maillard Compounds Present in Bread Crust: Studies in Caco-2 Cells Bread crust is one of the major contributors to the intake of Maillard reaction products (MRP). MRP improve the organoleptic properties of foods and can provide biological actions such as antioxidant properties. The transport and availability of Amadori compounds (measured as furosine) and hydroxymethylfurfural (HMF)-early and intermediary MRP-from enzymatically digested (...) 40% and 56%; the lower amount of the compound supplied, the higher transport rate. However, HMF transport rate (35%) was unaffected by the initial amount of the compound. Amadori compounds and HMF contained in the LMW fraction were more efficiently transported than those present in the HMW fraction, suggesting improved absorption when supplied as free forms or linked to LMW compounds. Absorbance recovery at 280 nm was higher from the LMW fraction, whereas higher recovery was detected for the HMW

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2017 Foods

15. Phenolic Compounds Present Schinus terebinthifolius Raddi Influence the Lowering of Blood Pressure in Rats (PubMed)

Phenolic Compounds Present Schinus terebinthifolius Raddi Influence the Lowering of Blood Pressure in Rats This study identified two phenolic compounds in Schinus terebinthifolius Raddi fruits: naringenin (first report in this species) and gallic acid. Their structures were elucidated by nuclear magnetic resonance (NMR) data (¹H-, 13C-NMR) and a high-performance liquid chromatography (HPLC) technique. A high content of phenolics (659.21 mg of gallic acid equivalents/g of sample-Folin-Ciocalteau (...) to determine the mechanism of action of the sample vasorelaxant effect. It was found that its action exceeded that of the positive control used (diazepam). This confirmed the vasodilatory activity exerted by S. terebinthifolius fruits is related to the phenolic compounds present in the plant, which are potent antioxidants and inhibit oxidative stress, mainly in the central nervous system.

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2017 Molecules : A Journal of Synthetic Chemistry and Natural Product Chemistry

16. Compound Presentation

Compound Presentation Compound Presentation Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Compound Presentation Compound (...) Presentation Aka: Compound Presentation From Related Chapters II. Definition Hand prolapses alongside fetal head III. Epidemiology : 0.04 TO 0.14% More common in prematurity IV. Signs Digital cervical exam Hand palpated beside presenting fetal head V. Differential Diagnosis Fetal foot beside head VI. Management Expectant management usually occurs Consider repositioning if descent arrested Elevate fetal hand Bring head downward Images: Related links to external sites (from Bing) These images are a random

2018 FP Notebook

17. Tumor Necrosis Factor-Related Apoptosis-Inducing Ligand-Induced Apoptosis in Prostate Cancer Cells after Treatment with Xanthohumol—A Natural Compound Present in Humulus lupulus L. (PubMed)

Tumor Necrosis Factor-Related Apoptosis-Inducing Ligand-Induced Apoptosis in Prostate Cancer Cells after Treatment with Xanthohumol—A Natural Compound Present in Humulus lupulus L. TRAIL (tumor necrosis factor-related apoptosis-inducing ligand) is an endogenous ligand, which plays role in immune surveillance and anti-tumor immunity. It has ability to selectively kill tumor cells showing no toxicity to normal cells. We tested the apoptotic and cytotoxic activities of xanthohumol, a prenylated (...) . The intracellular expression of proteins was evaluated by Western blotting. Our study showed that xanthohumol enhanced cytotoxic and apoptotic effects of TRAIL. The tested compounds activated caspases-3, -8, -9, Bid, and increased the expression of Bax. They also decreased expression of Bcl-xL and decreased mitochondrial membrane potential, while the expression of death receptors was not changed. The findings suggest that xanthohumol is a compound of potential use in chemoprevention of prostate cancer due

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2016 International journal of molecular sciences

18. Electric-field induced bistability in single-molecule conductance measurements for boron coordinated curcuminoid compounds †Electronic supplementary information (ESI) available: Synthetic details and spectra of all synthesized compounds. X-ray crystal d (PubMed)

), the free-ligand organic molecule, and two coordination compounds, MeS-CCM-BF2 (2) and MeS-CCM-Cu (3), where ligand 1 coordinates to a boron center (BF2 group) and to a CuII moiety, respectively. We found that the three molecules present stable molecular junctions allowing detailed statistical analysis of their electronic properties. Compound 3 shows a slight increase in the conductance with respect to free ligand 1, whereas incorporation of BF2 (compound 2) promotes the presence of two conductance (...) Electric-field induced bistability in single-molecule conductance measurements for boron coordinated curcuminoid compounds †Electronic supplementary information (ESI) available: Synthetic details and spectra of all synthesized compounds. X-ray crystal d We have studied the single-molecule conductance of a family of curcuminoid molecules (CCMs) using the mechanically controlled break junction (MCBJ) technique. The CCMs under study contain methylthio (MeS-) as anchoring groups: MeS-CCM (1

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2018 Chemical Science

19. Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders

Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders 116 | wileyonlinelibrary.com/journal/hae Haemophilia. 2019;25:116–126. © 2019 John Wiley & Sons Ltd 1 | INTRODUC TION Genetic diagnosis for patients with haemophilia has been a routine part of clinical practice in the United Kingdom for two decades. For patients with other inherited bleeding disorders, testing has previ- ously been variably implemented (...) gene discovery programs such as Genomics England’s 100 000 Genomes Project. In the future, the expectation will be that selected individuals suspected to have a bleeding or platelet disorder not amenable to standard coagulation and genetic profiling will undergo large NGS panel or exome-based sequencing as part of their investigation. For haemostasis genes with a well-established link between the gene involved and the clinical presentation (the genotype-pheno - type relationship), the reporting

2019 United Kingdom Haemophilia Centre Doctors' Organisation

20. Optimization of a polyphenol extraction method for sweet orange pulp (Citrus sinensis L.) to identify phenolic compounds consumed from sweet oranges. (PubMed)

Optimization of a polyphenol extraction method for sweet orange pulp (Citrus sinensis L.) to identify phenolic compounds consumed from sweet oranges. The consumption of sweet oranges has been linked to several health benefits, many of which are attributed to hesperidin, a flavanone that is present in high amounts in these fruits. However, other phenolic compounds can contribute to the bioactivity of sweet orange. To link those effects to their phenolic profile, the complete characterization (...) of the phenolic profile is mandatory. Although many studies have profiled the phenolic composition of orange juices, their pulps, which retain phenolic compounds, are overlooked. This fact is particularly relevant because dietary guidelines recommend the consumption of whole fruits. Therefore, this study aimed to develop a specific method for the optimal extraction of phenolics from orange pulp and to use this method to characterize these fruits grown at different locations by HPLC-ESI-MS/MS. The extraction

2019 PLoS ONE

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