10 research outputs found

    Effect of Nutrient Concentration and pH on Growth and Nutrient Removal Efficiency of Duckweed (Lemna Minor) From Natural Solid Waste Leachate

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    This study aims to investigate the effect of nutrientconcentration and pH of leachate on growth and nutrientremoval efficiency of duckweed (Lemna minor). A batchexperiment was conducted using pH range of 4-10 and twoinitial leachate dilutions with nutrient concentrations of N (90and 20 mg L -1) and P (76 and 16 mg L-1) and effect of pH andinitial nitrogen (N) and phosphorous (P) contents of naturalleachate was investigated on growth and nutrient removalefficiency of Lemna minor. Nutrient removal rates of duckweedincrease with an increase in initial nutrient concentration ofleachate at all pH levels. At both leachate dilutions, pH range of6-8 with an optimum of 7.1 is good for nutrient removalefficiency of duckweed from leachate. The highest rates ofnitrogen (1.22 g m-2 day-1) and phosphorous (0.95 g m-2 day-1)removal were achieved from more concentrated leachate at pH7.1. Growth rate of duckweed decreases with an increase ininitial nutrient concentration of leachate at all pH levels.Maximum growth rate of duckweed (19.6 g m2 day-1) wasachieved at pH 7.1 from less concentrated leachate. Nitrogenand phosphorous uptake in duckweed biomass was higher inless concentrated leachate at all pH values. Optimum pH for Nand P uptake by Lemna minor is 7.1 at both leachate dilutions.At this pH duckweed showed 94 % and 91 % uptake of N and Prespectively from less concentrated leachate

    Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

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    PURPOSE: We aimed to define a novel autosomal recessive neurodevelopmental disorder, characterize its clinical features, and identify the underlying genetic cause for this condition. METHODS: We performed a detailed clinical characterization of 19 individuals from nine unrelated, consanguineous families with a neurodevelopmental disorder. We used genome/exome sequencing approaches, linkage and cosegregation analyses to identify disease-causing variants, and we performed three-dimensional molecular in silico analysis to predict causality of variants where applicable. RESULTS: In all affected individuals who presented with a neurodevelopmental syndrome with progressive microcephaly, seizures, and intellectual disability we identified biallelic disease-causing variants in Protocadherin-gamma-C4 (PCDHGC4). Five variants were predicted to induce premature protein truncation leading to a loss of PCDHGC4 function. The three detected missense variants were located in extracellular cadherin (EC) domains EC5 and EC6 of PCDHGC4, and in silico analysis of the affected residues showed that two of these substitutions were predicted to influence the Ca2+-binding affinity, which is essential for multimerization of the protein, whereas the third missense variant directly influenced the cis-dimerization interface of PCDHGC4. CONCLUSION: We show that biallelic variants in PCDHGC4 are causing a novel autosomal recessive neurodevelopmental disorder and link PCDHGC4 as a member of the clustered PCDH family to a Mendelian disorder in humans

    Growth and nutrient removal efficiency of duckweed (lemna minor) from synthetic and dumpsite leachate under artificial and natural conditions.

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    Sustainable management of leachate produced from the dumpsite is one of the major concerns in developing countries Aquatic plants such as duckweed have the potential to remove pollutants from wastewater which can also be cost-effective and feasible options for leachate treatment. Therefore, the objective of our present study was to examine the growth and nutrient removal efficiency of duckweed (Lemna minor) on leachate. Three tests were performed each by growing lemna minor on synthetic leachate under controlled conditions and on dumpsite leachate under natural conditions. During each test, duckweed was grown in 300 ml plastic containers with a surface area of 25.8 cm2. About 60 mg of fresh mass of duckweed was grown on 250 ml leachate at an internal depth of 9.5 cm. Results revealed that, in comparison to synthetic leachate, duckweed removed Chemical Oxygen Demand (COD), nitrogen (N), and phosphorous (P) more efficiently from dumpsite leachate under natural climatic conditions. However, the amounts of N and P absorbed into duckweed body mass were about 16% and 35% respectively more at synthetic leachate under controlled conditions. Maximum growth rate of duckweed (7.03 g m-2 day-1) was also observed for synthetic leachate in comparison to the growth rate of 4.87 g m-2 day-1 at dumpsite leachate. Results of this study provide a useful interpretation of duckweed growth and nutrient removal dynamics from leachate under natural and laboratory conditions

    Forensic toxicological analysis of hair: a review

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    Abstract Analysis of hair provides useful information regarding drug addiction history or drug toxicity. Keeping in view some important applications of hair analysis, a lot of work done in the past few decades has been reviewed in this article. When compared with other biological samples, hair provides a larger window for drug detection. Drugs get deposited in hair through blood circulation by various mechanisms, after its administration. The deposited drug is much stable and can be detected after a longer period of time as compared with other biological samples, e.g., saliva, blood, and urine. Moreover, segmental analysis can depict multiple or single drug administration by using sensitive analytical techniques. Complex methods for drug extraction and the high cost of analysis are some drawbacks of hair analysis. LC-MS and GC-MS are the prominent among other techniques of choice due to high sensitivity. In this review, detailed knowledge about the drug deposition, extraction, analysis, and application of results in forensic and clinical cases have been discussed

    Component analysis of illicit morphia tablets (clandestine laboratory preparation) using gas chromatography mass spectrometry: a case study

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    Abstract Background Various synthetic or semi-synthetic drugs like cocaine, amphetamine type stimulants (ATS), and heroin are produced and processed in clandestine laboratories. Every clan lab has its own procedures and protocols for drug synthesis and processing. A drug can be brought up in different forms like pharmaceutical tablets or raw street powder or any else, depending upon different types of adulterants or diluents and the physical modifications required for its transportation. Since a specific drug is synthesized by various clandestine laboratories, it is likely to have some differences between the two samples due to slightly different synthesis protocols used or the nature and concentration of adulterants. Detailed analysis of drug samples can determine, whether the drug belongs to common source or not. The basic purpose of alterations in physical form is to deceive the law enforcement agencies and to increase the bulk. Case presentation In this article, a clandestine product of an altered form of a drug was analyzed and reported. Two samples of orange colored “morphia tablets” seized by law enforcement officials were submitted for chemical analysis. Both of the samples were analyzed to determine physical and chemical characteristics. In both samples, the tablets were orange in color. The average weight of a tablet was 58.24 mg for sample A, and 68.85 mg for sample B. Qualitative analysis using GC-MS showed that tablets in sample A were composed of caffeine, dextromethorphan, hydromorphone, acetylcodeine, and heroin, while the tablets in sample B were composed of caffeine, acetylcodeine, heroin, papaverine, and noscapine. The concentration of heroin in sample B was much higher than that in sample A. Conclusion The analysis of morphia tablets showed that these tablets were an altered form of street heroin. On the basis of variation in weight, heroin concentration, impurities, and adulterants in both the samples analyzed, it can be concluded that they belonged to some different sources. Complete drug profiling for organic and inorganic components of tablets is recommended for future prospective

    An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan

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    Background: Primary microcephaly (MCPH) is a congenital neurodevelopmental disorder manifesting as small brain and intellectual disability. It underlies isolated reduction of the cerebral cortex that is reminiscent of early hominids which makes it suitable model disease to study the hominin-specific volumetric expansion of brain. Mutations in 25 genes have been reported to cause this disorder. Although majority of these genes were discovered in the Pakistani population, still a significant proportion of these families remains uninvestigated. Methods: We studied a cohort of 32 MCPH families from different regions of Pakistan. For disease gene identification, genome-wide linkage analysis, Sanger sequencing, gene panel, and whole-exome sequencing were performed. Results: By employing these techniques individually or in combination, we were able to discern relevant disease-causing DNA variants. Collectively, 15 novel mutations were observed in five different MCPH genes; ASPM (10), WDR62 (1), CDK5RAP2 (1), STIL (2), and CEP135 (1). In addition, 16 known mutations were also verified. We reviewed the literature and documented the published mutations in six MCPH genes. Intriguingly, our cohort also revealed a recurrent mutation, c.7782_7783delGA;p.(Lys2595Serfs*6), of ASPM reported worldwide. Drawing from this collective data, we propose two founder mutations, ASPM:c.9557C>G;p. (Ser3186*) and CENPJ:c.18delC;p.(Ser7Profs*2), in the Pakistani population. Conclusions: We discovered novel DNA variants, impairing the function of genes indispensable to build a proper functioning brain. Our study expands the mutational spectra of known MCPH genes and also provides supporting evidence to the pathogenicity of previously reported mutations. These novel DNA variants will be helpful for the clinicians and geneticists for establishing reliable diagnostic strategies for MCPH families

    Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

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    Purpose We aimed to define a novel autosomal recessive neurodevelopmental disorder, characterize its clinical features, and identify the underlying genetic cause for this condition. Methods We performed a detailed clinical characterization of 19 individuals from nine unrelated, consanguineous families with a neurodevelopmental disorder. We used genome/exome sequencing approaches, linkage and cosegregation analyses to identify disease-causing variants, and we performed three-dimensional molecular in silico analysis to predict causality of variants where applicable. Results In all affected individuals who presented with a neurodevelopmental syndrome with progressive microcephaly, seizures, and intellectual disability we identified biallelic disease-causing variants in Protocadherin-gamma-C4 (PCDHGC4). Five variants were predicted to induce premature protein truncation leading to a loss of PCDHGC4 function. The three detected missense variants were located in extracellular cadherin (EC) domains EC5 and EC6 of PCDHGC4, and in silico analysis of the affected residues showed that two of these substitutions were predicted to influence the Ca2+-binding affinity, which is essential for multimerization of the protein, whereas the third missense variant directly influenced the cis-dimerization interface of PCDHGC4. Conclusion We show that biallelic variants in PCDHGC4 are causing a novel autosomal recessive neurodevelopmental disorder and link PCDHGC4 as a member of the clustered PCDH family to a Mendelian disorder in humans
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