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1.
Mol Biol Rep ; 51(1): 527, 2024 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-38637351

RESUMO

BACKGROUND: SnRK2 plays vital role in responding to adverse abiotic stimuli. The applicability of TaSnRK2.4 and TaSnRK2.9 was investigated to leverage the potential of these genes in indigenous wheat breeding programs. METHODS: Genetic diversity was assessed using pre-existing markers for TaSnRK2.4 and TaSnRK2.9. Furthermore, new markers were also developed to enhance their broader applicability. KASP markers were designed for TaSnRK2.4, while CAPS-based markers were tailored for TaSnRK2.9. RESULTS: Analysis revealed lack of polymorphism in TaSnRK2.4 among Pakistani wheat germplasm under study. To validate this finding, available gel-based markers for TaSnRK2.4 were employed, producing consistent results and offering limited potential for application in marker-assisted wheat breeding with Pakistani wheat material. For TaSnRK2.9-5A, CAPS2.9-5A-1 and CAPS2.9-5A-2 markers were designed to target SNP positions at 308 nt and 1700 nt revealing four distinct haplotypes. Association analysis highlighted the significance of Hap-5A-1 of TaSnRK2.9-5A, which exhibited association with an increased number of productive tillers (NPT), grains per spike (GPS), and reduced plant height (PH) under well-watered (WW) conditions. Moreover, it showed positive influence on NPT under WW conditions, GPS under water-limited (WL) conditions, and PH under both WW and WL conditions. High selection intensity observed for Hap-5A-1 underscores the valuable role it has played in Pakistani wheat breeding programs. Gene expression studies of TaSnRK2.9-5A revealed the involvement of this gene in response to PEG, NaCl, low temperature and ABA treatments. CONCLUSION: These findings propose that TaSnRK2.9 can be effectively employed for improving wheat through marker-assisted selection in wheat breeding efforts.


Assuntos
Resistência à Seca , Triticum , Triticum/metabolismo , Genótipo , Melhoramento Vegetal , Pão , Proteínas de Plantas/genética
2.
Phys Chem Chem Phys ; 26(7): 6058-6067, 2024 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-38295376

RESUMO

Metal halide perovskites show remarkable optical properties and useful applications in optoelectronic devices. However, the instability of three-dimensional (3D) metal halide perovskites limits their applications, leading to the emergence of more stable two-dimensional (2D) metal halide perovskites. Herein, we present a facile synthesis of the 2D hybrid metal halide perovskite (EDA)(MA)n-1PbnBr3n+1 (EDA: ethylene diammonium, MA: methylammonium), where n = 1-6, and MAPbBr3 perovskite layers using an anti-solvent co-precipitation technique. The synthesized materials exhibited tunable optical properties, and the color emissions of pure EDAPbBr4 and (EDA)(MA)2Pb3Br10 perovskites were successfully tailored by altering halide anion layers. The band gap decreases as the value of n in the (EDA)(MA)n-1PbnBr3n+1 compound increases from 1 to 6. The as-prepared materials were characterized using X-ray diffraction (XRD) technique, Fourier transform infrared spectroscopy (FTIR), ultraviolet-visible spectroscopy (UV-Vis), photoluminescence spectroscopy (PL), scanning electron microscopy (SEM), and energy dispersive X-ray analysis (EDX). Finally, the stability of the 2D hybrid metal halide perovskite structures was evaluated under ambient conditions over different periods. Their tunable color emission was investigated and robust fluorescence was observed after 55 days. Thus, this study provides valuable insights into the synthesis and characterization of 2D hybrid metal halide perovskites for tunable color emission, highlighting their potential for use in various optoelectronic applications.

3.
J Pak Med Assoc ; 73(1): 174-176, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36842034

RESUMO

Covid-19 associated pulmonary aspergillosis (CAPA) is a new entity and is associated with high morbidity and mortality. Covid-19 is a pro-inflammatory and immunosuppressive disease, provoking fungal infections, especially by Aspergillus species. We describe the case of a critically ill Covid-19 female patient, who was diagnosed with CAPA infection and acute respiratory distress syndrome (ARDS). She was given intravenous Remdesivir. Her chest X-ray a few days after admission showed multiple cavities. Her condition initially improved but deteriorated again, with worsening hypoxia and pneumothorax and multiple cavitary lesions on HRCT of the chest. Despite optimal treatment, she could not recover. Interestingly, she had no predisposing risk factor for pulmonary aspergillosis, such as chronic lung disease, diabetes or use of immunosuppressants such as Tocilizumab. CAPA is an emerging entity with worsening hypoxia, and failure to improve can be an early sign. Early identification and treatment can improve survival and outcomes in Covid-19 patients.


Assuntos
COVID-19 , Pneumonia , Aspergilose Pulmonar , Humanos , Feminino , COVID-19/complicações , Aspergilose Pulmonar/diagnóstico , Aspergilose Pulmonar/diagnóstico por imagem , Administração Intravenosa , Hipóxia , Imunossupressores/uso terapêutico
4.
J Pak Med Assoc ; 73(3): 547-551, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36932757

RESUMO

OBJECTIVE: To identify the association between acute infection and acute coronary syndrome, and to evaluate the outcomes in such cases. METHODS: The cross-sectional, retrospective, analytical study was conducted at the Aga Khan University Hospital, Karachi, from July to December 2020, and comprised data from January to December 2019 of acute coronary syndrome patients aged >18 years. Data related to demographics, comorbidities, smoking status and history of dyslipidaemia. Binary logistic regression was used to explore the association of infections with acute coronary syndrome. Data was analysed using SPSS 26. RESULTS: Of the 1202 patients with acute coronary syndrome, 189(15.7%) had infection before the coronary event. The mean age of the patients was 68.5±12.4 years, and 97(51.3%) of them were females. Community-acquired pneumonia was found in 105(55.6%) patients, followed by urinary tract infection 64(33.9%) and cellulitis 8(4.2%). For pneumonia, the odds of having non-ST elevated myocardial infarction was 1.1 (95% confidence interval: 0.4-3.0). With urinary tract infections, unstable angina was associated with an odd ratio of 4.2 (95% confidence interval: 1-17.4), and ST elevated myocardial infarction was associated with odd ratio of 3.7 (95% confidence interval: 0.4-31). CONCLUSIONS: Bacterial infections were found to be associated with acute coronary syndrome. Bacterial infections with pneumonia and urinary tract infections showed a higher risk of myocardial ischaemia..


Assuntos
Síndrome Coronariana Aguda , Infecções Bacterianas , Infarto do Miocárdio sem Supradesnível do Segmento ST , Pneumonia , Infarto do Miocárdio com Supradesnível do Segmento ST , Feminino , Humanos , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Masculino , Síndrome Coronariana Aguda/epidemiologia , Estudos Transversais , Estudos Retrospectivos , Centros de Atenção Terciária , Paquistão/epidemiologia , Pneumonia/epidemiologia , Fatores de Risco
5.
Ecotoxicol Environ Saf ; 234: 113385, 2022 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-35278995

RESUMO

In semi-arid regions, post-restoration vegetation recovery on abandoned agricultural lands often fails due to inherently low organic matter content and poor soil fertility conditions, including phosphorus (P). As such, amending these soils with controlled release P fertilizer, especially with suitable P solubilizing bacteria (PSB) may promote plant growth and productivity by stimulating biological P fertility. To this aim, a pot study was performed to evaluate the agronomic potential of maize and soil biological P pools, using encapsulated (ENRP) and non-encapsulated (NRP) nano-rock phosphate as the P fertilizer source, on reclaimed agricultural soil in the presence and absence of PSB inoculant. The experiment was setup following a 3 × 2 factorial arrangement with four replicates. Without PSB, NRP treatment showed marginal positive effects on plant growth, P nutrition and P use efficiency (PUE) compared to control treatment. Although larger gains with NRP treatment were more noticeable under PSB inoculation, ENRP was the most convenient slow-release P fertilizer, increasing plant growth, P nutrition and grain yield compared to all treatments. Importantly, PSB inoculation with ENRP resulted in significantly higher increase in soil CaCl2-P (8.91 mg P kg soil-1), citrate-P (26.98 mg P kg soil-1), enzyme-P (18.98 mg P kg soil-1), resin-P (11.41 mg P kg soil-1), and microbial-P (18.94 mg P kg soil-1), when compared to all treatment combinations. Although a decrease in soil HCl-P content was observed with both types of P fertilizer, significant differences were found only with PSB inoculation. A significant increase in soil biological P pools could be due to the higher specific area and crystalline structure of nano materials, providing increased number of active sites for PSB activity in the presence of biobased encapsulated shell. Furthermore, the increase in PSB abundance, higher root carboxylate secretions, and decreased rhizosphere pH in response to nano-structured P fertilizer, implies greater extension of rhizosphere promoting greater P mobilization and/or solubilization, particularly under PSB inoculated conditions. We conclude that cropping potential of abandoned agricultural lands can be enhanced by the use of nano-rock phosphate in combination with PSB inoculant, establishing a favorable micro-environment for higher plant growth and biochemical P fertility.

6.
Clin Genet ; 100(4): 486-488, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34270086

RESUMO

Jawad syndrome is a multiple congenital anomaly and intellectual disability syndrome with mutation in RBBP8 reported only in two families. Here, we report on two new families from Pakistan and identified a previously reported variant in RBBP8, NM_002894.3:c.1808-1809delTA. We could show that this mutation impairs splicing resulting in two different abnormal transcripts. Finally, we could verify a shared haplotype among all four families and estimate the founder event to have occurred some 24 generations ago.


Assuntos
Endodesoxirribonucleases/genética , Dedos/anormalidades , Efeito Fundador , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/genética , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Microcefalia/diagnóstico , Microcefalia/genética , Mutação , Splicing de RNA , Dedos do Pé/anormalidades , Fácies , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Paquistão , Linhagem , Fenótipo , Análise de Sequência de DNA , Sequenciamento do Exoma
7.
Inorg Chem ; 60(3): 1449-1461, 2021 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-33464045

RESUMO

The development of cost-effective, functional materials that can be efficiently used for sustainable energy generation is highly desirable. Herein, a new molecular precursor of bismuth (tris(selenobenzoato)bismuth(III), [Bi(SeOCPh)3]), has been used to prepare selectively Bi or Bi2Se3 nanosheets via a colloidal route by the judicious control of the reaction parameters. The Bi formation mechanism was investigated, and it was observed that the trioctylphosphine (TOP) plays a crucial role in the formation of Bi. Employing the vapor deposition method resulted in the formation of exclusively Bi2Se3 films at different temperatures. The synthesized nanomaterials and films were characterized by p-XRD, TEM, Raman, SEM, EDX, AFM, XPS, and UV-vis spectroscopy. A minimum sheet thickness of 3.6 nm (i.e., a thickness of 8-9 layers) was observed for bismuth, whereas a thickness of 4 nm (i.e., a thickness of 4 layers) was observed for Bi2Se3 nanosheets. XPS showed surface oxidation of both materials and indicated an uncapped surface of Bi, whereas Bi2Se3 had a capping layer of oleylamine, resulting in reduced surface oxidation. The potential of Bi and Bi2Se3 nanosheets was tested for overall water-splitting application. The OER and HER catalytic performances of Bi2Se3 indicate overpotentials of 385 mV at 10 mA cm-2 and 220 mV, with Tafel slopes of 122 and 178 mV dec-1, respectively. In comparison, Bi showed a much lower OER activity (506 mV at 10 mA cm-2) but a slightly better HER (214 mV at 10 mA cm-2) performance. Similarly, Bi2Se3 nanosheets were observed to exhibit cathodic photocurrent in photoelectrocatalytic activity, which indicated their p-type behavior.

8.
Environ Res ; 202: 111789, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34333013

RESUMO

Greenhouse gaseous (GHGs) emissions from cropland soils are one of the major contributors to global warming. However, the extent and pattern of these climatic breakdowns are usally determined by the management practices in-place. The use of biochar on cropland soils holds a great promise for increasing the overall crop productivity. Nevertheless, biochar application to agricultural soils has grown in popularity as a strategy to off-set the negative feedback associated with agriculture GHGs emissions, i.e., CO2 (carbon dioxide), CH4 (methane), and N2O (nitrous oxide). Despite increasing efforts to uncover the potential of biochar to mitigate the farmland GHGs effects, there has been little synthesis of how different types of biochar affect GHGs fluxes from cropland soils under varied experimental conditions. Here, we presented a meta-analysis of the interactions between biochar and GHGs emissions across global cropland soils, with field experiments showing the strongest GHG mitigation potential, i.e. CO2 (RR = -0.108) and CH4 (RR = -0.399). The biochar pyrolysis temperature, feedstock, C: N ratio, and pH were also found to be important factors influencing GHGs emissions. A prominent reduction in N2O (RR = -0.13) and CH4 (RR = -1.035) emissions was observed in neutral soils (pH = 6.6-7.3), whereas acidic soils (pH ≤ 6.5) accounted for the strongest mitigation effect on CO2 compared to N2O and CH4 emissions. We also found that a biochar application rate of 30 t ha-1 was best for mitigating GHGs emissions while achieving optimal crop yield. According to our meta-analysis, maize crop receiving biochar amendment showed a significant mitigation potential for CO2, N2O, and CH4 emissions. On the other hand, the use of biochar had shown significant impact on the global warming potential (GWP) of total GHGs emissions. The current data synthesis takes the lead in analyzing emissions status and mitigation potential for three of the most common GHGs from cropland soils and demonstrates that biochar application can significantly reduce the emissions budget from agriculture.


Assuntos
Gases de Efeito Estufa , Agricultura , Carvão Vegetal , Solo
9.
J Environ Manage ; 285: 112170, 2021 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-33607561

RESUMO

Organic amendments (animal manure and biochar) to agricultural soils may enhance soil organic carbon (SOC) contents, improve soil fertility and crop productivity but also contribute to global warming through nitrous oxide (N2O) emission. However, the effects of organic amendments on N2O emissions from agricultural soils seem variable among numerous research studies and remains uncertain. Here, eighty-five publications (peer-reviewed) were selected to perform a meta-analysis study. The results of this meta-analysis study show that the application of animal manure enhanced N2O emissions by 17.7%, whereas, biochar amendment significantly mitigated N2O emissions by 19.7%. Moreover, coarse textured soils increased [lnRR‾ = 182.6%, 95% confidence interval (CI) = 151.4%, 217.7%] N2O emission after animal manure, in contrast, N2O emission mitigated by 7.0% from coarse textured soils after biochar amendment. In addition, this study found that 121-320 kg N ha-1 and ⩽ 30 T ha-1 application rates of animal manure and biochar mitigated N2O emissions by 72.3% and 22.5%, respectively. Soil pH also played a vital role in regulating the N2O emissions after organic amendments. Furthermore, > 10 soil C: N ratios increased N2O emissions by 121.4% and 27.6% after animal and biochar amendments, respectively. Overall, animal manure C: N ratios significantly enhanced N2O emissions, while, biochar C: N ratio had not shown any effect on N2O emissions. Overall, average N2O emission factors (EFs) for animal manure and biochar amendments were 0.46% and -0.08%, respectively. Thus, the results of this meta-analysis study provide scientific evidence about how organic amendments such as animal manure and biochar regulating the N2O emission from agricultural soils.


Assuntos
Esterco , Óxido Nitroso , Agricultura , Animais , Carbono , Carvão Vegetal , Fertilizantes , Óxido Nitroso/análise , Solo
10.
J Appl Biomed ; 19(1): 1-13, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-34907711

RESUMO

Due to its aggressive nature and low survival rate, esophageal cancer is one of the deadliest cancer. While the intestinal microbiome significantly influences human health and disease. This research aimed to investigate and characterize the relative abundance of intestinal bacterial composition in esophageal cancer patients. The fecal samples were collected from esophageal cancer patients (n = 15) and healthy volunteers (n = 10). The PCR-DGGE was carried out by focusing on the V3 region of the 16S rRNA gene, and qPCR was performed for Bacteroides vulgatus, Escherichia coli, Bifidobacterium, Clostridium leptum and Lactobacillus. High-throughput sequencing of the 16S rRNA gene targeting the V3+V4 region was performed on 20 randomly selected samples. PCR-DGGE and High-throughput diversity results showed a significant alteration of gut bacterial composition between the experimental and control groups, which indicates the gut microbial dysbiosis in esophageal cancer patients. At the phylum level, there was significant enrichment of Bacteroidetes, while a non-significant decrease of Firmicutes in the experimental group. At family statistics, a significantly higher level of Bacteroidaceae and Enterobacteriaceae, while a significantly lower abundance of Prevotellaceae and Veillonellaceae were observed. There was a significantly high prevalence of genera Bacteroides, Escherichia-Shigella, while a significantly lower abundance of Prevotella_9 and Dialister in the experimental group as compared to the control group. Furthermore, the species analysis also showed significantly raised level of Bacteroides vulgatus and Escherichia coli in the experimental group. These findings revealed a significant gut microbial dysbiosis in esophageal cancer patients. So, the current study can be used for the understanding of esophageal cancer treatment, disease pathway, mechanism, and probiotic development.


Assuntos
Neoplasias Esofágicas , Microbioma Gastrointestinal , Bacteroides , Bacteroidetes/genética , Estudos de Casos e Controles , Disbiose/microbiologia , Escherichia coli/genética , Microbioma Gastrointestinal/genética , Humanos , RNA Ribossômico 16S/genética
11.
PLoS Genet ; 13(7): e1006897, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28686597

RESUMO

Claudins constitute the major component of tight junctions and regulate paracellular permeability of epithelia. Claudin-10 occurs in two major isoforms that form paracellular channels with ion selectivity. We report on two families segregating an autosomal recessive disorder characterized by generalized anhidrosis, severe heat intolerance and mild kidney failure. All affected individuals carry a rare homozygous missense mutation c.144C>G, p.(N48K) specific for the claudin-10b isoform. Immunostaining of sweat glands from patients suggested that the disease is associated with reduced levels of claudin-10b in the plasma membranes and in canaliculi of the secretory portion. Expression of claudin-10b N48K in a 3D cell model of sweat secretion indicated perturbed paracellular Na+ transport. Analysis of paracellular permeability revealed that claudin-10b N48K maintained cation over anion selectivity but with a reduced general ion conductance. Furthermore, freeze fracture electron microscopy showed that claudin-10b N48K was associated with impaired tight junction strand formation and altered cis-oligomer formation. These data suggest that claudin-10b N48K causes anhidrosis and our findings are consistent with a combined effect from perturbed TJ function and increased degradation of claudin-10b N48K in the sweat glands. Furthermore, affected individuals present with Mg2+ retention, secondary hyperparathyroidism and mild kidney failure that suggest a disturbed reabsorption of cations in the kidneys. These renal-derived features recapitulate several phenotypic aspects detected in mice with kidney specific loss of both claudin-10 isoforms. Our study adds to the spectrum of phenotypes caused by tight junction proteins and demonstrates a pivotal role for claudin-10b in maintaining paracellular Na+ permeability for sweat production and kidney function.


Assuntos
Claudinas/genética , Rim/metabolismo , Isoformas de Proteínas/genética , Insuficiência Renal/genética , Animais , Transporte Biológico/genética , Cátions/metabolismo , Claudinas/metabolismo , Células Epiteliais/metabolismo , Humanos , Hipo-Hidrose , Rim/patologia , Camundongos , Microscopia Eletrônica , Mutação de Sentido Incorreto , Permeabilidade , Isoformas de Proteínas/metabolismo , Insuficiência Renal/metabolismo , Insuficiência Renal/patologia , Junções Íntimas
12.
J Environ Manage ; 271: 111033, 2020 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-32778313

RESUMO

In semi-arid regions, soil phosphorus (P) dynamics in cereal-legume intercropping are not yet fully elucidated, particularly in relation to integrated application of fertilizers. To this aim, we investigate the effects of different fertilizers on various P fractions in relation to the rhizosphere-microbial processes in a cowpea/maize intercropping system. Field experiments were conducted during two consecutive years (2016-2017) in a split-plot design by establishing cowpea/maize alone or intercropped onto the main plot, while the sub-plot was treated with four types of fertilization, i.e. no fertilizer addition (control), organic amendment (compost), mineral fertilizers (NPK) and multi-nutrient enriched compost (NPKEC). Our results showed that NPKEC fertilizer increased NaHCO3-Pi by 69% in maize, 62% in cowpea and 93% in intercropped plots compared to control plots. Similarly, a significant increase in the NaHCO3-Po fraction was also recorded with NPKEC treatment in all cropping systems. In case of moderately labile P, NPKEC fertilizer caused the highest increase of NaOH-Po (12.87 ± 0.50 mg P kg-1 soil) and NaOH-Pi (22.29 ± 0.83 mg P kg-1 soil) fractions in intercropped plots. Except for intercropping, NPK application caused an increase in the non-available P fraction (HCl-Pi), while the use of NPKEC decreased the HCl-Pi concentration in all cropping systems, suggesting stronger merits both for intercropping and NPKEC. Surprisingly, maize exhibited substantially higher phosphatases activity compared to cowpea in monoculture amended with compost, implying distinct crop strategies for adaptation under low P conditions. Based on the multi-factor analysis, the close association of NaHCO3-P with P solubilizing bacteria, root carboxylates and pH indicated that rhizosphere processes are the strongest predictors of immediately available P. Since alkaline phosphatase (ALP) is a P-degrading enzyme of microbial origin, rhizosphere related ALP association may have originated from root-associated microflora promoting P mobilization. Furthermore, the strong association of microbial biomass P (MBP) and acid phosphates (ACP) with NaOH-P fraction indicated moderately available P cycle in soil was mainly driven by microbial-related processes. Factor analysis map and two-way ANOVA confirmed that fertilization regime had a stronger effect on all tested variables compared to cropping system. Altogether, our results suggest that a combination of microbial-rhizosphere processes controls the dynamics of P fertility in semi-arid soils. In the broader context of improving soil P fertility, it is highly recommended the use of environmentally sustainable sources of fertilizer, such as NPKEC, which can enhance the competitive performance of legume-cereal intercropping under semi-arid agroecosystems.


Assuntos
Rizosfera , Solo , Agricultura , Fertilizantes , Fósforo , Zea mays
13.
Saudi Pharm J ; 28(7): 869-875, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32647489

RESUMO

Herein, we report novel macromolecular prodrugs (MPDs) of flurbiprofen (FLB) onto a cellulose ether, hydroxypropylcellulose (HPC). The FLB was activated with a powerful acylation reagent carbonyldiimadazole (CDI) in N,N' dimethylacetamide (DMAc) solvent at room temperature. Imidazolide of FLB generated in situ reacts at 80 °C for 24 h with pre-dissolved HPC to prepare HPC-FLB conjugates. The resultant MPDs of FLB showed moderate to high degree of substitution (DS: 0.35-1.3) with good yield (70-82%). Structures were thoroughly characterized using FTIR, UV and NMR spectroscopic analyses. The pharmacokinetic studies showed that the t1/2 and tmax values of FLB from HPC-FLB conjugate were increased substantially as compare to standard FLB indicates enhanced bioavailability of drug after conjugate formation. Remarked anti-inflammatory activity of the HPC-FLB conjugate was also observed.

14.
Int J Neurosci ; 129(9): 890-895, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30892110

RESUMO

Aim: Neuronal ceroid lipofuscinosis (NCLs) are the most common neurodegenerative disorders, with global incidence of 1 in 100,000 live births. NCLs affect central nervous system, primarily cerebellar and cerebral cortices. Juvenile neuronal ceroid lipofuscinosis (JNCL), also known as Batten disease, is the most common form of NCLs. JNCL is primarily caused by pathogenic mutations in CLN3 gene, which encodes a transporter transmembrane protein of uncertain function. The 1.02 kb deletion is the most common mutation in CLN3 that results in frame shift and a premature termination leading to nonfunctional protein. Here, we invetigated a large consanguineous family consisting of four affected individuals with clincal symptoms suggestive of Juvenile neuronal ceroid lipofuscinosis. Materials and methods: We conducted clinial and radilogical investigation of the family and performed NGS based Gene Panel sequencing comprising of five hundred and forty five candidate genes to characterize it at genetic level. Results: We identified a novel homozygous c.181_183delGAC mutation in the CLN3 gene seggregating witht the disorder in the family. The mutation induces in-frame deletion, deleting one amino acid (p.Asp61del) in CLN3 protein. The deleted amino acid aspartic acid plays an important role as general acid in enzymes active centers as well as in maintaining the ionic character of proteins. Conclusion: Our finding adds to genetic variability of Juvenile neuronal ceroid lipofuscinosis associated with CLN3 gene and a predicted CLN3 protein interacting domain site.


Assuntos
Glicoproteínas de Membrana/genética , Chaperonas Moleculares/genética , Mutação/genética , Lipofuscinoses Ceroides Neuronais/diagnóstico por imagem , Lipofuscinoses Ceroides Neuronais/genética , Adolescente , Humanos , Masculino , Paquistão , Linhagem
15.
Bull Environ Contam Toxicol ; 102(6): 822-828, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30955046

RESUMO

The present study was carried out to ascertain the level of various metals in wheat variety (Chagi-4) irrigated with diverse doses of wastewater. The concentration of metals in soil, water and wheat grain samples was examined through an atomic absorption spectrophotometer. In wheat grains, the mean values of metals (mg/kg) varied from 0.06 to 0.2 for Pb, 1.2 to 1.6 for Cd, 0.6 to 0.9 for Ni, 0.8 to 1.6 for Fe, 0.4 to 1.0 for Mn, 0.7 to 1.4 for Cu, 0.3 to 0.5 for Cr, 0.1 to 0.9 for Zn and 0.03 to 0.2 for Co, correspondingly. Measured concentrations were found within the permissible limit given by FAO/WHO except for cadmium whose concentration exceeded an acceptable limit 0.2 mg/kg suggested by FAO/WHO. It might be due to high soil pH, which hinders the efficient transfer of metals between different mediums. Wastewater irrigated soil, wheat and water had high metal values, but the low rate of transfer was noticed from soil to grains. Higher bioconcentration factor was obtained for manganese and cadmium; cadmium had even higher pollution load index, which could indicate the contamination status of soil. Therefore, regular monitoring of wastewater is necessary to prevent the excessive build-up of metals.


Assuntos
Metais Pesados/análise , Poluentes do Solo/análise , Triticum/metabolismo , Águas Residuárias/química , Irrigação Agrícola/métodos , Metais Pesados/metabolismo , Solo/química , Poluentes do Solo/metabolismo , Espectrofotometria Atômica , Águas Residuárias/análise
16.
Pak J Pharm Sci ; 32(1): 205-212, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30772810

RESUMO

Synthetic drugs are associated with adverse side-effects and rapid increase in resistance to most of them inspires to evaluate plants for their therapeutic values. We have been aimed to suggest the medicinal use of Nigella sativa seed aqueous extract to minimize the severity of liver damage via its antioxidant properties and its role in maintenance of cell ion-homeostasis. Annoyances in serum levels of some antioxidants and trace metals in human hepatitis C infected patients were compared with that from acetaminophen-induced hepatotoxic rabbits. Serum analysis of human patients and that of hepatotoxic rabbits have exhibited the same trend of incidence of liver marker enzymes, antioxidant levels, and trace metal concentrations, except for the serum levels of cobalt. Significance of pre-/ or post-treatment of Nigella sativa to acetaminophen induced-hepatotoxic rabbit has also evaluated. NS post-treatment to rabbits has been found effective in normalizing the levels (P<0.001) of serum liver markers; especially the ALP levels, and the antioxidants; with significant effect on the serum catalase levels. However, NS pre-treatment has shown its role (P<0.001) in maintaining the serum nickel and cobalt concentrations. Therefore, we suggest the use of Nigella sativa seeds as pre-/ or post-treatment therapy, and also as supplement to the normal medications of liver infection to normalize the status of cell antioxidants and trace metal concentrations.


Assuntos
Antioxidantes/farmacologia , Doença Hepática Induzida por Substâncias e Drogas/prevenção & controle , Fígado/efeitos dos fármacos , Nigella sativa , Estresse Oxidativo/efeitos dos fármacos , Extratos Vegetais/farmacologia , Acetaminofen , Adulto , Idoso , Animais , Antioxidantes/isolamento & purificação , Biomarcadores/sangue , Estudos de Casos e Controles , Doença Hepática Induzida por Substâncias e Drogas/sangue , Doença Hepática Induzida por Substâncias e Drogas/patologia , Citoproteção , Modelos Animais de Doenças , Feminino , Hepatite C Crônica/sangue , Hepatite C Crônica/diagnóstico , Hepatite C Crônica/virologia , Humanos , Fígado/metabolismo , Fígado/patologia , Masculino , Metais/sangue , Pessoa de Meia-Idade , Nigella sativa/química , Extratos Vegetais/isolamento & purificação , Coelhos , Sementes , Oligoelementos/sangue , Adulto Jovem
17.
Chem Rec ; 18(2): 230-238, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28841258

RESUMO

Inorganic halide perovskite (CsPbX3 ) nanostructures have gained considerable interest in recent years owing to their enhanced stability and optoelectronic applications. Recent developments in the synthesis of nanostructures are reviewed. The impact of the precursor and ligand nature, temperature and growth time on the morphology and shape tuning of CsPbX3 nanostructures is described in relation to their optical properties. The presynthetic and postsynthetic anion exchange strategies to retain pre-existing crystal phase and shape are discussed in this minireview.

18.
Bull Environ Contam Toxicol ; 101(6): 787-795, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30250970

RESUMO

This study focused on evaluating the metal and metalloid contamination and associated risks in the two vegetables crops, coriander (Coriandrum sativum) and spinach (Spinacia oleracea) treated with three water regimes, canal water, groundwater and municipal wastewater. These vegetables are widely consumed by people and are also used in traditional medicine for treating various disorders. Metal and metalloid accumulation (Zn, Pb, Se, Cu, As, Mo, Fe, Ni) was found higher in vegetables treated with wastewater. Wastewater treated soil had high pollution load index. Fe, Zn, As and Pb had higher values in water, soil and vegetables as compared to other studied metals. Overall, metal correlation for soil and vegetables was significant and positive except for Fe and Cu in spinach. The highest value for daily metal intake was estimated for Fe while Se had the lowest value for the same index. It was thus concluded that trace metal and metalloid accumulation was a major health concern for the public consuming these vegetables.


Assuntos
Coriandrum/química , Spinacia oleracea/química , Verduras/química , Águas Residuárias/análise , Produtos Agrícolas/química , Monitoramento Ambiental , Contaminação de Alimentos/análise , Humanos , Metaloides/análise , Metais Pesados/análise , Medição de Risco , Solo/química , Poluentes do Solo/análise , Oligoelementos/análise
19.
Pak J Pharm Sci ; 31(6 (Supplementary): 2623-2628, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30587470

RESUMO

Among immunosuppressive agents cyclosporine A is drug of unique importance. This drug has a low therapeutic index, and it has many toxic effects. After oral administration its absolute bioavailability is variable due to poor absorption. Niosomes are new and versatile carriers to deliver drug. The bioavailability of immunosuppressant drug cyclosporine A can be increased by niosomal drug delivery system. So our basic theme was to prepare niosomes of immunosuppressant drug using cholesterol, span 60 and tween 60 etc. Niosomes were characterized for zeta potential, size, poly dispersivity index(PDI), entrapment efficiency and In vitrorelease profiles. Six niosomal formulations (F1-F6) were successfully developed using thin film hydration technique. Among various formulations F2 showed the highest entrapment efficiency 77.29 %. The DSC thermograms of physical mixtures and niosomal formulations indicated the presence of drug in crystalline form. In vitro drug release study demonstrated higher drug release values as compared to drug aqueous dispersion. Niosomal formulations were capable of releasing drug in sustained manner. The overall results demonstrated that developed niosomal carriers are competitive candidates for improving dissolution profile of cyclosporine A leading to increased bioavailability at the site of action.


Assuntos
Ciclosporina/farmacocinética , Portadores de Fármacos/farmacocinética , Composição de Medicamentos/métodos , Desenvolvimento de Medicamentos/métodos , Imunossupressores/farmacocinética , Ciclosporina/química , Portadores de Fármacos/química , Imunossupressores/química , Lipossomos
20.
J Pak Med Assoc ; 67(9): 1374-1378, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28924277

RESUMO

OBJECTIVE: To determine the benefit of prophylactic platelet transfusion on clinical outcomes in patients with dengue fever. METHODS: The retrospective cohort study was conducted at Patel Hospital, Karachi, and comprised record of patients fulfilling World Health Organisation's diagnostic criteria for dengue between 2009 and 2015. We excluded patients with known auto-immune thrombocytopenia, isolated infection with a pathogen other than dengue virus, drug-induced thrombocytopenia and patients requiring therapeutic transfusion. SPSS 21 was used for data analysis. RESULTS: Of the 639 dengue patients, 209(32.7%) were transfused platelets (group 1) while 430(67.3%) were not (group 2). There was a significant difference in minor bleeding episodes (65(31.1%) in the transfused group vs. 59(13.7%) in the non-transfused group; p=0.000). Similarly, 4(1.9%) patients died in group 1vs. 1(0.2%) in group 2 (p=0.024). The mean cost of hospital stay was Rs26,733±5,780 in group 1 vs. Rs5,266±3,627 in group 2 (p=0.000). CONCLUSIONS: Prophylactic transfusion in dengue patients provided little or no clinical benefit in preventing bleeding complications, and substantially increased medical costs.


Assuntos
Dengue/terapia , Hemorragia/prevenção & controle , Transfusão de Plaquetas/métodos , Trombocitopenia/terapia , Adulto , Dengue/complicações , Feminino , Hemorragia/etiologia , Custos Hospitalares , Humanos , Masculino , Mortalidade , Paquistão , Estudos Retrospectivos , Centros de Atenção Terciária , Trombocitopenia/etiologia , Adulto Jovem
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