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1.
Int J Biol Macromol ; 261(Pt 2): 129962, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38316322

ABSTRACT

In this work, novel monoclinic tungsten oxide (WO3)-encapsulated phosphate-rich porous sodium alginate (PASA) microspherical hydrogel beads were prepared for efficient U(VI) capture. These macroporous and hollow beads were systematically characterized through XRD, FTIR, EDX-mapping, and SEM-EDS techniques. The O and P atoms in the PO and monoclinic WO3 offered inner-spherical complexation with U(VI). The in situ growth of WO3 played a significant role inside the phosphate-rich biopolymeric network to improve its chemical stability, specific surface area, adsorption capacity, and sorption rate. The phytic acid (PA) served for heteroatom doping and crosslinking. The encapsulated WO3 mass ratio was optimized in different composites, and WO3/PASA3 (the microspherical beads with a mass ratio of 30.0 % w/w) exhibited remarkable maximum sorption capacity qm (336.42 mg/g) computed through the best-fit Langmuir model (R2 ≈ 0.99) and rapid sorption equilibrium, teq (150 min). The isothermal sorption studies were conducted at different temperatures (298, 303, and 308 K) and thermodynamic parameters concluded that the process of U(VI) sorption using WO3/PASA3 is endothermic and feasible having ΔHo (8.19 kJ/mol), ΔGo (-20.75, -21.38, and - 21.86 kJ/mol) and proceeds with a minute increase in randomness ΔSo (0.09 kJ/mol.K). Tungsten oxide (WO3)-encapsulated phosphate-rich porous microspherical beads could be promising material for uranium removal.


Subject(s)
Alginates , Oxides , Tungsten , Uranium , Alginates/chemistry , Adsorption , Phosphates , Porosity , Thermodynamics , Kinetics , Uranium/chemistry , Hydrogen-Ion Concentration
2.
Biomed Res Int ; 2022: 6240711, 2022.
Article in English | MEDLINE | ID: mdl-36147637

ABSTRACT

Staphylococcus aureus is emerging as a ubiquitous multidrug-resistant pathogen circulating among animals, humans, and their environment. The current study focused on molecular epidemiology and evidence-based treatment against S. aureus from bovine endometritis. For this study, n = 304 cattle were screened for endometritis using ultrasonography while presenting case history, and clinical signs were also considered. S. aureus was isolated from endometritis-positive uterine samples which were further put to molecular identification, phylogenetic analysis, susceptibility to antibiotics, and testing of novel drug combinations in both in vitro and field trials. The findings of the study revealed 78.20% of bovine endometritis samples positive for S. aureus, while nuc gene-based genotyping of S. aureus thermal nuclease (SA-1, SA-2, and SA-3) showed close relatedness with S. aureus thermal nuclease of Bos taurus. Drug combinations showed 5.00 to 188.88% rise in zones of inhibitions (ZOI) for drugs used in combination compared to the drugs used alone. Gentamicin in combination with amoxicillin and enrofloxacin with metronidazol showed synergistic interactions in an in vitro trial. Co-amoxiclav with gentamicin, gentamicin with enrofloxacin, and metronidazole with enrofloxacin showed 100%, 80%, and 60% efficacy in treating clinical cases in field trials, respectively. As a result, the study came to the conclusion the higher prevalence of endometritis-based S. aureus, genetic host shifts, narrow options for single drugs, and need for novel drug combinations to treat clinical cases.


Subject(s)
Endometritis , Methicillin-Resistant Staphylococcus aureus , Staphylococcal Infections , Amoxicillin/therapeutic use , Amoxicillin-Potassium Clavulanate Combination/therapeutic use , Animals , Anti-Bacterial Agents/pharmacology , Anti-Bacterial Agents/therapeutic use , Cattle , Endometritis/drug therapy , Enrofloxacin/therapeutic use , Female , Genomics , Gentamicins/therapeutic use , Metronidazole , Microbial Sensitivity Tests , Phylogeny , Staphylococcal Infections/drug therapy , Staphylococcal Infections/genetics , Staphylococcal Infections/veterinary , Staphylococcus aureus
3.
Cureus ; 12(2): e6950, 2020 Feb 11.
Article in English | MEDLINE | ID: mdl-32190500

ABSTRACT

Unregulated traditional medications and their solvents are nephrotoxic. We present a case of a 49-year-old Nigerian male with a 10-year history of diabetes mellitus and hypertension who was ingesting a traditional, herbal medication as an aphrodisiac for erectile dysfunction. He had a rapid decline in kidney function over a period of one year and the patient commenced thrice weekly hemodialysis. He came to the USA for a second opinion. A full laboratory evaluation for immunologic and infectious causes of kidney failure was unremarkable. Kidneys were 12 cm bilaterally and a kidney biopsy revealed protracted tubular injury with isometric vacuolization and numerous calcium oxalate crystals. His serum oxalate level was elevated and there was no evidence of primary hyperoxaluria. It was suspected that the daily use of traditional, herbal supplements which often contain ethylene or diethylene glycol-based solvents may have led to a chronic oxalate toxicity that resulted in his kidney failure and above-mentioned pathological findings. Kidney damage was deemed irreversible and the patient returned to Nigeria. Worldwide, the increasing use of unregulated traditional, herbal supplements has the potential to cause epidemics of kidney disease in rural communities. A thorough medication history including the use of traditional and herbal supplements should be obtained in all patients with a rapid decline in kidney function, even in the presence of known risk factors for chronic kidney disease (CKD).

4.
Lipids Health Dis ; 18(1): 213, 2019 Dec 07.
Article in English | MEDLINE | ID: mdl-31810485

ABSTRACT

BACKGROUND: In developing and developed countries, several versions of safe and shelf-stable Ultra High Temperature, UHT-treated products are manufactured. Terminologies and formulations of UHT-treated tea whitener, milk and dairy drink considerably vary. Comprehensive studies have been performed on UHT-treated milk; however, fatty acids compositional changes and oxidation status of UHT-treated tea whitener and dairy drink at different storage intervals have not been reported in literature. METHODS: UHT-treated tea whitener, milk and dairy drink samples (450 each) of the same manufacturing date were purchased from the market and stored at ambient temperature (25-30 °C) for 90 days. At the time of collection, all the samples were only one week old. Samples of UHT-treated tea whitener, milk and dairy drink were regarded as treatments and every treatment was replicated five times. Chemical composition, fatty acid profile, 2, 2-Diphenyl-1-picrylhydrazyle (DPPH) radical scavenging activity, total antioxidant activity, reducing power, antioxidant activity in linoleic acid system and induction period were determined at 0, 45 and 90 days of storage. RESULTS: Fat content in freshly collected samples of UHT treated-tea whitener, milk and dairy drink were 6 and 3.5%. UHT treated milk had highest total antioxidant capacity, antioxidant activity in linoleic acid and 2, 2-Diphenyl-1-picrylhydrazyle (DPPH) free radical scavenging activity followed by UHT tea whitener and dairy drink. In freshly collected samples of UHT-treated milk, concentrations vitamin A and E were 0.46 µg/100 g and 0.63 mg/100 g, respectively. UHT-treated tea whitener had the lowest concentrations of vitamin A and E. With the progression of storage period, amount of vitamin A and E decreased. In freshly collected samples, amount of short, medium and unsaturated fatty acids in UHT-treated milk were 10.54, 59.71 and 27.44%, respectively. After 45 days of storage of UHT-treated milk, the loss of short, medium and unsaturated fatty acid was 7%, 7.1 and 5.8%, respectively. After 90 days of storage of UHT-treated milk, the loss of short, medium and unsaturated fatty acid was 8.53, 13.51 and 11.88%, accordingly. After 45 days of storage of UHT-treated tea whitener, the loss of medium and unsaturated fatty acid was 1.6 and 0.99%, respectively. After 90 days of storage, the loss of medium and unsaturated fatty acids were 8.2 and 6.6%, respectively. The induction period of fresh UHT-treated tea whitener, milk and dairy drink was 15.67, .74 and 7.27 h. Strong correlations were recorded between induction period and peroxide value of UHT-treated products. CONCLUSION: This investigation disclosed that UHT-treated tea whitener had 6% fat content with no short-chain fatty acids. Antioxidant capacity of UHT-treated milk was higher than dairy drink and tea whitener. Due to the presence of partially hydrogenated fat, oxidative stability of UHT-treated tea whitener was better than UHT-treated milk and dairy drink. Vitamin A and E was not found in UHT-treated tea whitener. For the anticipation of oxidative stability of UHT-treated milk, dairy drink and tea whitener, induction period/ Rancimat method can be used.


Subject(s)
Fatty Acids, Unsaturated/analysis , Free Radical Scavengers/analysis , Milk/chemistry , Tea/chemistry , Animals , Biphenyl Compounds/chemistry , Dairy Products/analysis , Fatty Acids, Unsaturated/chemistry , Food Analysis , Free Radical Scavengers/chemistry , Hot Temperature , Humans , Picrates/chemistry , Vitamin A/analysis , Vitamin A/chemistry , Vitamin E/analysis , Vitamin E/chemistry
5.
Lipids Health Dis ; 18(1): 41, 2019 Feb 04.
Article in English | MEDLINE | ID: mdl-30717735

ABSTRACT

Milk and dairy products are integral part of human nutrition and they are considered as the carriers of higher biological value proteins, calcium, essential fatty acids, amino acids, fat, water soluble vitamins and several bioactive compounds that are highly significant for several biochemical and physiological functions. In recent years, foods containing natural antioxidants are becoming popular all over the world as antioxidants can neutralize and scavenge the free radicals and their harmful effects, which are continuously produced in the biological body. Uncontrolled free radicals activity can lead to oxidative stresses, which have been implicated in breakdown of vital biochemical compounds such as lipids, protein, DNA which may lead to diabetes, accelerated ageing, carcinogenesis and cardiovascular diseases. Antioxidant capacity of milk and milk products is mainly due to sulfur containing amino acids, such as cysteine, phosphate, vitamins A, E, carotenoids, zinc, selenium, enzyme systems, superoxide dismutase, catalase, glutathione peroxidase, milk oligosaccharides and peptides that are produced during fermentation and cheese ripening. Antioxidant activity of milk and dairy products can be enhanced by phytochemicals supplementation while fermented dairy products have been reported contained higher antioxidant capacity as compared to the non-fermented dairy products. Literature review has shown that milk and dairy products have antioxidant capacity, however, information regarding the antioxidant capacity of milk and dairy products has not been previously compiled. This review briefly describes the nutritional and antioxidant capacity of milk and dairy products.


Subject(s)
Antioxidants/metabolism , Dairy Products , Milk , Amino Acids/analysis , Amino Acids/metabolism , Animals , Buffaloes , Caseins/metabolism , Caseins/pharmacology , Cattle , Goats , Humans , Milk/chemistry , Milk/metabolism , Nutritive Value , Sheep , Whey Proteins/metabolism , Whey Proteins/pharmacology
6.
Lipids Health Dis ; 17(1): 79, 2018 Apr 11.
Article in English | MEDLINE | ID: mdl-29642933

ABSTRACT

BACKGROUND: Ripening of cheddar cheese is a time taking process, duration of the ripening may be as long as one year. Long ripening time is a big hindrance in the popularity of cheese in developing countries. Further, energy resources in these countries are either insufficient or very expensive. Therefore, those methods of cheese ripening should be discovered which can significantly reduce the ripening time without compromising the quality characteristics of cheddar cheese. In accelerated ripening, cheese is usually ripened at higher temperature than traditional ripening temperatures. Ripening of cheddar cheese at high temperature with the addition of vitamin E and selenium is not previously studied. This investigation aimed to study the antioxidant activity of selenium and vitamin E in accelerated ripening using cheddar cheese as an oxidation substrate. METHODS: The ripening of cheddar cheese was performed at 18 °C and to prevent lipid oxidation, vitamin E and selenium were used alone and in combination. The treatments were as: cheddar cheese without any addition of vitamin E and selenium (T1), cheddar cheese added with 100 mg/kg vitamin E (T2), 200 mg/kg vitamin E (T3), 800 µg/kg selenium (T4), 1200 µg/kg selenium (T5), vitamin E 100 mg/kg + 800 µg/kg selenium (T6) and vitamin E 200 mg/kg + 1200 µg/kg selenium (T7). Traditional cheddar cheese ripne ripened at 4-6 °C for 9 months was used as positive control. Cheese samples were ripened at 18 °C for a period of 12 weeks and analyzed for chemical and oxidative stability characteristics at 0, 6 and 12 weeks of storage. All these treatments were compared with a cheddar cheese without vitamin E, selenium and ripened at 4 °C or 12 weeks. Vacuum packaged cheddar cheese was ripened 18 °C for a period of 12 weeks and analyzed for chemical and oxidative stability characteristics at 0, 4 and 8 weeks of storage period. RESULTS: Addition of Vitamin E and selenium did not have any effect on moisture, fat and protein content of cheddar cheese. After 6 weeks of ripening, total antioxidant capacity of T1, T2, T3, T4, T5, T6, T7 and standard cheese were 29.61%, 44.7%, 53.6%, 42.5%, 41.4%, 64.1%, 85.1% and 25.4%. After 6 weeks of ripening, reducing power of T1, T2, T3, T4, T5, T6, T7 and SC cheese were 14.7%, 18.1%, 26.3%, 19.2%, 25.3%, 33.4%, 40.3% and 11.6%. After 6 weeks of ripening, 1, 1-diphenyl-2-picrylhydrazyl (DPPH) free radical scavenging activity of T6 and T7 were 54.2% and 66.9%. While, DPPH free radical scavenging activity of T1 and standard cheese after 6 weeks of ripening were, 19.1 and 18.5%, respectively. Free fatty acids of vitamin E and selenium supplemented, non-supplemented and standard cheese were not significantly influenced from each other in 0, 6 and 12 weeks old cheddar cheese. Peroxide values of T1, T2, T3, T4, T5, T6, T7 and standard cheese after 6 weeks of accelerated ripening were 1.19, 1.05, 0.88, 1.25, 0.29, 0.25, 0.24 and 0.28 (MeqO2/kg). After 6 weeks of ripening, anisidine value of T6 and T7 were 6.55 and 6.14. Conjugated dienes of T1, T2, T3, T4, T5, T6, T7 and standard cheese, after 6 weeks of accelerated ripening were 0.61, 0.55, 0.42, 0.77, 0.65, 0.17, 0.15 and 0.19. After 6 weeks of accelerated ripening, concentrations unsaturated fatty acids in T1, T2, T3, T4, T5, T6, T7 and standard cheese decreased by18.19%, 17.45%, 16.82%, 16.19%, 12.71%, 8.48%, 6.92% and 14.71%. After 12 weeks of accelerated ripening, concentration of unsaturated fatty acids in T1, T2, T3, T4, T5, T6 and T7 and standard cheese decreased by 26.2%, 21.2%, 18.7%, 14.2%, 10.4%, 4.84%, 1.03% and 6.78%. Cheddar cheese samples added with vitamin E, selenium and their combinations produced more organic acids during the ripening period of 12 weeks. After 6 and 12 weeks of ripening, flavor score of T6 and T7 was better than standard ripened cheddar cheese. CONCLUSIONS: After 6 weeks of accelerated ripening, sensory characteristics of T6 and T7 were similar to cheddar cheese that was ripened at 4 °C for 9 months. Ripening time of cheddar cheese may be reduced to 6 weeks by elevated temperature (18 °C) using vitamin E and selenium as antioxidants at T6 and T7 levels.


Subject(s)
Antioxidants/pharmacology , Cheese/analysis , Lipid Metabolism/drug effects , Selenium/pharmacology , Vitamin E/pharmacology , Biphenyl Compounds/chemistry , Fatty Acids/analysis , Free Radical Scavengers/chemistry , Oxidation-Reduction , Peroxides/analysis , Picrates/chemistry
7.
Lipids Health Dis ; 16(1): 163, 2017 Aug 24.
Article in English | MEDLINE | ID: mdl-28836975

ABSTRACT

BACKGROUND: Antioxidant capacity of milk is largely due to vitamins A, E, carotenoids, zinc, selenium, superoxide dismutase, catalase, glutathione peroxidase and enzyme systems. Cow milk has antioxidant capacity while the antioxidant capacity of buffalo milk has been studied in a limited way. The information regarding the effect of pasteurization and boiling on antioxidant capacity of cow and buffalo milk is also scared. METHODS: Cow and buffalo milk was exposed to two different heat treatments i.e. 65 °C for 30 min and boiling for 1 min. After heat treatments, milk samples were cooled down to 4 °C packaged in transparent 250 ml polyethylene PET bottles and stored at 4 °C for 6 days. Milk composition, total flavonoid content, total antioxidant capacity, reducing power, DPPH free radical scavenging activity, antioxidant activity in linoleic acid, vitamin C, A, E, selenium, Zinc, fatty acid profile, peroxide value and sensory characteristics were studied in raw, pasteurized and boiled cow and buffalo milk at 0, 3 and 6 days of storage period. RESULTS: Total antioxidant capacity (TAC) of raw, pasteurized and boiled milk for cow (42.1, 41.3 and 40.7%) and buffalo (58.4, 57.6 and 56.5%) samples was found, respectively. Reducing power (RP) of raw cow and buffalo milk was 6.74 and 13.7 while pasteurization and boiling did not showed significant effect on RP of both cow and buffalo milk. DPPH activity of raw, pasteurized and boiled milk for cow (24.3, 23.8 and 23.6%) and buffalo (31.8, 31.5 and 30.4%) samples was noted, respectively. Storage period up to 3 days was non-significant while DPPH assay after 6 days of storage period indicated significant decline in antioxidant activity of milk samples. Antioxidant activity in linoleic acid (AALA) of buffalo and cow milk were recorded 11.7 and 17.4%, respectively. Pasteurization and boiling did not showed any impact on antioxidant capacity of cow and buffalo milk. The Loss of vitamin C in pasteurization (40 and 42%) and boiling (82 and 61%) of cow and buffalo milk was recorded, respectively. Concentration of vitamin A and E in pasteurized cow and buffalo milk was not significantly different from raw milk samples of cow and buffalo. Concentration of selenium and zinc was not influenced by the heat treatment in both cow and buffalo milk samples. After 3 days of refrigerated storage, antioxidant capacity of both cow and buffalo milk decreased. Concentrations of short-chain and medium-chain fatty acids increased in pasteurized and boiled cow and buffalo milk, while long-chain fatty acids decreased in pasteurized and boiled cow and buffalo milk, with no effect on colour and flavor score. Peroxide value of pasteurized and boiled cow and buffalo milk was not influenced by the storage up to 3 days. CONCLUSIONS: These results suggest that buffalo milk had a higher antioxidant capacity than cow milk and pasteurized milk should be consumed within 3 days of refrigerated storage for better antioxidant perspectives.


Subject(s)
Antioxidants/chemistry , Fatty Acids/chemistry , Milk/chemistry , Animals , Buffaloes , Cattle , Food Preservation , Hot Temperature , Linoleic Acid/chemistry , Pasteurization , Selenium/chemistry , Vitamin A/chemistry , Vitamin E/chemistry , Zinc/chemistry
8.
Lipids Health Dis ; 16(1): 102, 2017 May 31.
Article in English | MEDLINE | ID: mdl-28569164

ABSTRACT

BACKGROUND: Chia (Salvia hispanica L.) is known as power house of omega fatty acids which has great health benefits. It contains up to 78% linolenic acid (ω-3) and 18% linoleic acid (ω-6), which could be a great source of omega-3 fatty acids for functional foods. Therefore, in this study, margarines were prepared with supplementation of different concentrations of chia oil to enhance omega-3 fatty acids, antioxidant characteristics and oxidative stability of the product. METHODS: Margarines were formulated from non-hydrogenated palm oil, palm kernel and butter. Margarines were supplemented with 5, 10, 15 and 20% chia oil (T1, T2, T3 and T4), respectively. Margarine without any addition of chia oil was kept as control. Margarine samples were stored at 5 °C for a period of 90 days. Physico-chemical (fat, moisture, refractive index, melting point, solid fat index, fatty acids profile, total phenolic contents, DPPH free radical scavenging activity, free fatty acids and peroxide value) and sensory characteristics were studied at the interval of 45 days. RESULTS: The melting point of T1, T2, T3 and T4 developed in current investigation were 34.2, 33.8, 33.1 and 32.5 °C, respectively. The solid fat index of control, T1, T2, T3 and T4 were 47.21, 22.71, 20.33, 18.12 and 16.58%, respectively. The α-linolenic acid contents in T1, T2, T3 and T4 were found 2.92, 5.85, 9.22, 12.29%, respectively. The concentration of eicosanoic acid in T2, T3 and T4 was 1.82, 3.52, 6.43 and 9.81%, respectively. The content of docosahexanoic acid in T2, T3 and T4 was present 1.26, 2.64, 3.49 and 5.19%, respectively. The omega-3 fatty acids were not detected in the control sample. Total phenolic contents of control, T1, T2, T3 and T4 samples were 0.27, 2.22, 4.15, 7.23 and 11.42 mg GAE/mL, respectively. DPPH free radical scavenging activity for control, T1, T2, T3 and T4 was noted 65.8, 5.37, 17.82, 24.95, 45.42 and 62.8%, respectively. Chlorogenic acid, caffeic acid, quercetin, phenolic glycoside k and phenolic glycoside Q in T3 were present 0.78, 0.73, 1.82, 4.12 and 4.49 mg/mL, respectively. After 90 days of storage period, free fatty acids and peroxide value of all the treatments were less than 0.2 (% and MeqO2/kg). Sensory characteristics of treatments were not different from the control. CONCLUSION: Margarines supplemented with chia oil showed enhanced level of omega-3 fatty acids and antioxidant characteristics. These results suggest that chia oil can be used for formulation of margarine with increased level of omega-3 fatty acids and acceptable sensory characteristics.


Subject(s)
Antioxidants/chemistry , Fatty Acids, Omega-3/chemistry , Phenols/chemistry , Salvia/chemistry , Dietary Supplements , Humans , Margarine/analysis , Oxidation-Reduction , Plant Oils/chemistry
9.
Anesth Analg ; 125(5): 1526-1531, 2017 11.
Article in English | MEDLINE | ID: mdl-28632542

ABSTRACT

Physician-led perioperative surgical home models are developing as a method for improving the American health care system. These models are novel, team-based approaches that help to provide continuity of care throughout the perioperative period. Another avenue for improving care for surgical patients is the use of enhanced recovery after surgery pathways. These are well-described methods that have shown to improve perioperative outcomes. An established perioperative surgical home model can help implementation, efficiency, and adherence to enhanced recovery after surgery pathways. For these reasons, the Tennessee Valley Healthcare System, Nashville Veterans Affairs Medical Center created an Anesthesiology Perioperative Care Service that provides comprehensive care to surgical patients from their preoperative period through the continuum of their hospital course and postdischarge follow-up. In this brief report, we describe the development, implementation, and preliminary outcomes of the service.


Subject(s)
Anesthesia Department, Hospital/organization & administration , Anesthesia/methods , Delivery of Health Care, Integrated/organization & administration , Hospitals, Veterans , Patient-Centered Care/organization & administration , Process Assessment, Health Care/organization & administration , United States Department of Veterans Affairs , Aged , Female , Humans , Male , Middle Aged , Models, Organizational , Program Development , Program Evaluation , Time Factors , Treatment Outcome , United States , Workflow
10.
J Glob Antimicrob Resist ; 7: 78-83, 2016 12.
Article in English | MEDLINE | ID: mdl-27685672

ABSTRACT

Nutrient deposition and extensive use of antibiotics are increasing worldwide, especially in freshwater ecosystems. Bacteria display resistance to certain antibiotics and thus survive for extended periods in eutrophic environments. In this study, model ecosystems were established to investigate the effect of nitrate and phosphate nutrient salts on antibiotic resistance in strains of Enterococcus faecalis. Mesocosms were replicated to evaluate the ecological effects of nutrient influx. The mesocosms were divided into four different nitrogen (N) and phosphorus (P) regimens. Enterococcus faecalis strains were isolated on Days 0, 1, 7, 14, 21, 28, 40, 60 and 95 to evaluate their sensitivity to ampicillin, oxytetracycline (OXY), ciprofloxacin (CIP), chloramphenicol (CHL), vancomycin and erythromycin (ERY). Resistance genes for ERY (ermB, msrC and mefA), OXY [tet(M), tet(L) and tet(S)] and CHL (cat) as well as the enterococcal surface protein gene (esp) were investigated by PCR. The total nitrogen, total phosphorus, chemical oxygen demand permanganate index (CODMn), chlorophyll-a, Secchi depth and trophic level index were observed. In conclusion, addition of N and P had a significant influence on the resistance phenotypes of E. faecalis to OXY, CHL and ERY. Only high dosage led to CIP resistance. Higher total N concentrations resulted in the development of relatively higher resistance to OXY and CIP. The resistance genes tet(L) and tet(S) for OXY, msrC for ERY and cat for CHL were found to be associated with resistance in E. faecalis.


Subject(s)
Anti-Bacterial Agents/pharmacology , Drug Resistance, Bacterial/genetics , Enterococcus faecalis/drug effects , Nitrates/metabolism , Phosphates/metabolism , Ecosystem , Enterococcus faecalis/genetics , Genes, Bacterial , Microbial Sensitivity Tests , Water Microbiology
11.
Eur J Hum Genet ; 24(7): 1071-9, 2016 07.
Article in English | MEDLINE | ID: mdl-26626312

ABSTRACT

Leber congenital amaurosis (LCA) represents the most severe form of inherited retinal dystrophies with an onset during the first year of life. Currently, 21 genes are known to be associated with LCA and recurrent mutations have been observed in AIPL1, CEP290, CRB1 and GUCY2D. In addition, sequence analysis of LRAT and RPE65 may be important in view of treatments that are emerging for patients carrying variants in these genes. Screening of the aforementioned variants and genes was performed in 64 Danish LCA probands. Upon the identification of heterozygous variants, Sanger sequencing was performed of the relevant genes to identify the second allele. In combination with prior arrayed primer extension analysis, this led to the identification of two variants in 42 of 86 cases (49%). Remarkably, biallelic RPE65 variants were identified in 16% of the cases, and one novel variant, p.(D110G), was found in seven RPE65 alleles. We also collected all previously published RPE65 variants, identified in 914 alleles of 539 patients with LCA or early-onset retinitis pigmentosa, and deposited them in the RPE65 Leiden Open Variation Database (LOVD). The in silico pathogenicity assessment of the missense and noncanonical splice site variants, as well as an analysis of their frequency in ~60 000 control individuals, rendered 864 of the alleles to affect function or probably affect function. This comprehensive database can now be used to select patients eligible for gene augmentation or retinoid supplementation therapies.


Subject(s)
Leber Congenital Amaurosis/genetics , Mutation Rate , cis-trans-Isomerases/genetics , Adult , Child , Denmark , Female , Heterozygote , Humans , Infant , Leber Congenital Amaurosis/pathology , Male , Mutation, Missense , Pedigree , RNA Splicing
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