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1.
J Sci Food Agric ; 2020 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-32356568

RESUMO

BACKGROUND: Intake of food low in essential minerals, like zinc (Zn), is one of the major reasons of malnutrition. Development of genotypes with grains enriched in essential minerals may help to solve the issue of malnutrition. In this study, 16 chickpea genotypes (eight each of desi and kabuli types) of Pakistani origin were evaluated for genetic diversity and grain Zn biofortification potential with and without Zn fertilization. RESULTS: A wide variation was noted for agronomic, physiological, agro-physiological, utilization, and apparent recovery efficiencies of Zn in the chickpea genotypes tested. Genotypes also differed for grain Zn concentration (37.5-48.6 mg kg-1 ), bioavailable Zn (3.72-4.42 mg day-1 ), and grain yield. The highest grain Zn concentration and bioavailable Zn were noted in genotypes NIAB-CH-2016 (47.1 mg kg-1 and 4.30 mg day-1 respectively) and Noor-2013 (48.6 mg kg-1 and 4.38 mg day-1 respectively) among the desi and kabuli types respectively. The same genotypes were the highest yielders. Cluster analysis showed that all (eight) kabuli genotypes grouped together, whereas most (six) of the desi genotypes clustered in a separate group. There was low to moderate genetic diversity (0.149 for desi and 0.104 for kabuli types) and a low level of genetic differentiation between the two chickpea types (0.098). CONCLUSION: Two populations of chickpea had low to moderate genetic diversity, with consistent gene flow. This genetic diversity in both chickpea types allows the breeding gains for improving the grain yield and grain Zn biofortification potential of chickpea genotypes. © 2020 Society of Chemical Industry.

2.
Transbound Emerg Dis ; 2020 Apr 07.
Artigo em Inglês | MEDLINE | ID: mdl-32259396

RESUMO

This study was designed to characterize N gene sequences of peste des petits ruminants virus (PPRV) isolates circulating in Pakistan and to evaluate the efficacy of available diagnostic assays on local isolates. During the study period, a total of sixty PPR outbreaks were investigated. A total of 20 selected samples from these outbreaks were sequenced for N gene. The result analysis and the phylogenetic trees indicated two different viral groups in N gene: one was closer to China and Tajikistan, while other group was similar to isolates from Iran and Saudi Arabia. Efficacy of three commercially available tests for the antigen detection of PPR, that is, peste test, enzyme-linked immunosorbent assay (ELISA) and reverse transcriptase-polymerase chain reaction (RT-PCR) was compared. Keeping PCR as gold standard, sensitivity was calculated as 85% and 57% and specificity was calculated as 83% and 79% for ELISA and peste test, respectively. Value of K for ELISA was 0.67 which indicates good agreement between ELISA and RT-PCR. Value of K for peste test was 0.33 which indicates fair agreement between peste test and RT-PCR. In conclusion, study provides premier information about the use of different diagnostic tests and molecular situation of PPRV in Pakistan.

3.
Polymers (Basel) ; 12(3)2020 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-32110926

RESUMO

Projection microstereolithography additive manufacturing (PµSLA-AM) systems utilize free radical photopolymerization to selectively transform liquid resins into accurate and complex, shaped, solid parts upon UV light exposure. The material properties are coupled with geometrical accuracy, implying that optimizing one response will affect the other. Material properties can be enhanced by the post-curing process, while geometry is controlled during manufacturing. This paper uses designed experiments and analytical curing models concurrently to investigate the effects of process parameters on the green material properties (after manufacturing and before applying post curing), and the geometrical accuracy of the manufactured parts. It also presents a novel accumulated energy model that considers the light absorbance of the liquid resin and solid polymer. An essential definition, named the irradiance affected zone (IAZ), is introduced to estimate the accumulated energy for each layer and to assess the feasibility of the geometries. Innovative methodologies are used to minimize the effect of irradiance irregularities on the responses and to characterize the light absorbance of liquid and cured resin. Analogous to the working curve, an empirical model is proposed to define the critical energies required to start developing the different material properties. The results of this study can be used to develop an appropriate curing scheme, to approximate an initial solution and to define constraints for projection microstereolithography geometry optimization algorithms.

4.
J Pediatr Endocrinol Metab ; 33(4): 553-556, 2020 Apr 28.
Artigo em Inglês | MEDLINE | ID: mdl-32049654

RESUMO

Background Pompe disease (PD) is an autosomal recessive metabolic myopathy with an average incidence of one in 40,000 live births. It has a variable age of onset and can be diagnosed within the first 3 months. Heart involvement and muscle weakness are its primary manifestations. Case presentation We describe two families affected by PD with two rare, novel variants. To date, pathogenic variants in acid α-glucosidase (GAA) alone have accounted for all cases of the disease. Both families were screened for pathogenic sequence variations. This study presents the implications of regulatory or modifier sequences in the disease pathogenesis for the first time. A homozygous missense p.Arg854Gln variant in family A and a single heterozygous variant (p.Asn925His) in family B were found to be segregating according to the disease phenotype. The variants were not detected in our in-house database comprising 50 whole-exome sequences of healthy individuals from a local unrelated Pakistani population. In silico analyses predicted that the variants would have deleterious effects on the protein structure. Conclusions The variants likely underlie the infantile-onset PD (IOPD) in these Pakistani families. The study expands the mutation spectrum of GAA associated with IOPD and highlights the insufficiency of screening the GAA coding sequence to determine the cause of IOPD. The work should be helpful in carrier identification, improving genetic counselling, and prenatal diagnosis.

5.
Int J Biol Macromol ; 148: 449-456, 2020 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-31954788

RESUMO

The antioxidant activities of extracted keratin from chicken feathers using different chemical treatments including 2-mercaptoethanol (TME), sodium sulfite (SS), and sodium dodecyl sulfate (SDS) were investigated using an in-vitro study. The results displayed that all of these methods have antioxidant potency. However, the reduction of keratin with SS displayed the best antioxidant potency with IC50 value of 0.533 ± 0.061 mg/mL using DPPH radical scavenging assay with a porous surface morphology as monitored by scanning electron microscopy (SEM). Compared to raw feathers, all extracted keratins had lower decomposition temperatures and melting points investigated by thermogravimetric analysis (TGA) and differential scanning calorimetry (DSC) respectively. Fourier-transform infrared spectroscopy (FTIR) confirmed that the extracted keratins maintained the most amides bonds in the procedure of alkaline extraction.

6.
Crit Rev Food Sci Nutr ; 60(3): 406-434, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-30614251

RESUMO

This review article critically presents a comprehensive overview of the current advances in the research and development of proteins derived bionanocomposites used in food packaging applications. The recent interest in protein-based biomaterials is due to sustainability, renewability, biodegradability and low carbon footprint. The inherent drawbacks of proteins-based materials for food packaging applications are their low mechanical strength, poor thermal, barrier and inferior physicochemical properties. The nanoreinforced bio-based polymers called bionanocomposites provide an opportunity to overcome these issues and have ability to supersede non-biodegradable food packaging plastics produced from petroleum resources. So far, most studied protein derived bionanocomposites suitable for food packaging are soy protein isolates (SPI) and gelatin proteins. Layered silicates are the most promising nanofillers used to increase strength, improve heat resistance and enhance barrier properties of proteins derived materials while montmorillonites (MMT) is the most commonly used silicate nanofiller. This review emphases on the processing strategies used for proteins-based biomaterials, their mechanical and moisture barrier properties for food packaging applications. Different proteins and nanofillers that have been studied to date in proteins derived food packaging applications are also discussed in detail.

7.
J Phys Chem Lett ; 10(24): 7678-7683, 2019 Dec 19.
Artigo em Inglês | MEDLINE | ID: mdl-31755716

RESUMO

Molecular nanomagnets hold great promise for spintronics and quantum technologies, provided that their spin memory can be preserved above liquid-nitrogen temperatures. In the past few years, the magnetic hysteresis records observed for two related dysprosocenium-type complexes have highlighted the potential of molecular engineering to decouple vibrational excitations from spin states and thereby enhance magnetic memory. Herein, we study the spin-vibrational coupling in [(CpiPr5)Dy(Cp*)]+ (CpiPr5 = pentaisopropylcyclopentadienyl, Cp* = pentamethylcyclopentadienyl), which currently holds the hysteresis record (80 K), by means of a computationally affordable methodology that combines first-principles electronic structure calculations with a phenomenological ligand field model. Our analysis is in good agreement with the previously reported state-of-the-art ab initio calculations, with the advantage of drastically reducing the computation time. We then apply the proposed methodology to three alternative dysprosocenium-type complexes, extracting physical insights that demonstrate the usefulness of this strategy to efficiently engineer and screen magnetic molecules with the potential of retaining spin information at higher temperatures.

8.
Pak J Pharm Sci ; 32(3 Special): 1313-1319, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31551209

RESUMO

During current project, antibacterial and antibiofilm properties of traditional medicinal plant Ziziphus nummularia leaf extract and various fractions was investigated. The plant leaves were dried and extracted using 90% methanol followed by sequential fractionation using liquid-liquid fractionation. The fractions of a diverse polarity including chloroform, n-hexane, methanol and ethyl acetate and aqueous extracts were obtained that was further analysed by using HPLC. The phytochemical screening indicated presence of saponins, triterpenes and flavonoids. During DPPH assay, the methanolic fraction presented highest activity (IC50 193.1µg/mL), followed by ethyl acetate (IC50 220µg/mL) and chloroform (IC50 263µg/mL) fractions respectively. During FRAP assay, FRAP value for Z. nummularia extract 20.43µM. Among fractions, ethyl acetate fraction presented highest FRAP value (370.2µM), followed by chloroform (204µM) and methanolic (249µM) fractions. The antimicrobial activity of chloroform fraction was significantly high against P. aureginosa (6mm), L. monocytogenes, S. aureus (5mm), K. pneumoniae, B. Subtillus and E. coli (4mm). The ethyl acetate part presented significant activity (MIC 4mg/mL) against S. aureus, B. Subtillus and L. monocytogenes. The total extract and fractions were further tested for MBC and the MBC for ethyl acetate fractions was 4mg/mL, whereas all other fractions exhibited MBC >10mg/mL. No activity was recorded against Aspergillus niger. During antibiofilm assay, n-hexane fraction presented highest inhibition (88%) followed by ethyl acetate (69%) chloroform (65%) fractions. It was concluded that Z. nummularia possess moderate antimicrobial and antibiofilm activities. Further a synergistic effect is suggested in formulation having Z. nummularia.


Assuntos
Antibacterianos/química , Antibacterianos/farmacologia , Extratos Vegetais/farmacologia , Plantas Medicinais/química , Ziziphus/química , Antioxidantes/química , Antioxidantes/farmacologia , Biofilmes/efeitos dos fármacos , Clorofórmio/química , Avaliação Pré-Clínica de Medicamentos , Flavonoides/análise , Recuperação de Fluorescência Após Fotodegradação/métodos , Metanol/química , Testes de Sensibilidade Microbiana , Paquistão , Fenóis/análise , Extratos Vegetais/análise , Extratos Vegetais/química , Saponinas/análise
9.
J Pediatr Endocrinol Metab ; 32(12): 1385-1389, 2019 Dec 18.
Artigo em Inglês | MEDLINE | ID: mdl-31483760

RESUMO

Background Familial hypokalemic periodi9c paralysis (hypoKPP) is a rare autosomal dominant disorder characterized by episodic paralytic attacks caused by fall in blood potassium. CACNA1S, SCN4A or KCNJ2 variants can cause hypoKPP. Case presentation We investigated a Pakistani family affected with autosomal dominant familial hypoKPP through whole exome sequencing (WES). A heterozygous KCNJ2 missense variant c.919A > G was found segregating with the disease phenotype in the family. Conclusions The KCNJ2 missense variant is the likely cause of the disorder in the affected family. The finding should help improve antenatal screening and genetic counselling of this family.

10.
Plant Physiol Biochem ; 143: 11-18, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31473401

RESUMO

Two chickpea genotypes viz. Bhakar-2011 (desi) and Noor-2013 (kabuli) were sown in soil filled pots supplied with low (0.3 mg kg-1) and high (3 mg kg-1 soil) zinc (Zn) under control (70% water holding capacity and 25/20 °C day/night temperature), drought (35% water holding capacity) and heat (35/30 °C day/night temperature) stresses. Drought and heat stresses reduced rate of photosynthesis, photosystem II efficiency, plant growth and Zn uptake in chickpea. Low Zn supply exacerbated adverse effects of drought and heat stresses in chickpea, and caused reduction in plant biomass, carbon assimilation, antioxidant activity, impeded Zn uptake and enhanced oxidative damage. However, adequate Zn supply ameliorated adverse effect of drought and heat stresses in both chickpea types. The improvements were more in desi than kabuli type. Adequate Zn nutrition is crucial to augment growth of chickpea plants under high temperature and arid climatic conditions.


Assuntos
Cicer/metabolismo , Zinco/metabolismo , Ascorbato Peroxidases/genética , Ascorbato Peroxidases/metabolismo , Biomassa , Cicer/genética , Secas , Resposta ao Choque Térmico/fisiologia , Folhas de Planta/genética , Folhas de Planta/metabolismo , Superóxido Dismutase/genética , Superóxido Dismutase/metabolismo
11.
ACS Omega ; 4(2): 3772-3781, 2019 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-31459589

RESUMO

Spent hens, a poultry by-product, have little economic value for processing and mostly end up in landfills. However, there are concerns over disposal of spent hens; therefore, it is pertinent to find out alternative uses that are environmentally sound. On the other hand, single-use plastic packaging is leading to a global environmental crisis. In this study, proteins were extracted from spent hen, plasticized, and processed into films by compression molding. The hybrid bionanocomposite films were successfully prepared using glycerol as a plasticizer, chitosan as a cross-linker, and varying concentrations of nanoclay as a nanoreinforcement. The effects of nanoreinforcements, plasticization, and cross-linking were then evaluated on thermal, mechanical, and barrier properties of the prepared bionanocomposite films. Various concentrations of nanoclay and chitosan were dispersed in the protein matrix. However, with the same plasticizer loading, the optimum addition of chitosan and nanoclay led to almost twofold increase in the mechanical strength, compared to neat protein films. The results indicated that at optimal conditions, a good intercalation and/or exfoliation of the protein biopolymers into clay interlayer galleries was observed leading to improved thermal, thermomechanical, and barrier properties. These hybrid bionanocomposite films have great future potential to be used in packaging and other applications.

12.
Genet Test Mol Biomarkers ; 23(6): 428-432, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31081706

RESUMO

Background: Autosomal recessive congenital ichthyoses (ARCI) are a group of rare nonsyndromic genodermatoses characterized by generalized scaly appearance of the epidermis with markedly impaired cutaneous barriers owing to defects in keratinization related genes. In this study, we ascertained a consanguineous Pakistani family affected with ARCI. Aims: To investigate genetic defect underlying disease phenotype in the affected family. Methods: All available members of the family (affected and unaffected) were sampled. Whole exome sequencing (WES) was performed on DNA of the proband and the data were analyzed for probable pathogenic variants. Segregation of the identified variant was validated by Sanger sequencing. Results: Analysis of the WES data identified a novel nonsense mutation, c.762C>G, in the PNPLA1 (patatin-like phospholipase domain containing 1) gene. The protein product of of this gene is involved in lipid organization during cornified cell envelope formation. The variant is predicted to result in the generation of a premature truncation site at amino acid position 254 (p.Tyr254*). This would result in the loss of a large C-terminal portion of the protein suggesting it to be rendered nonfunctional. In silico protein structure modeling confirmed a detrimental effect of the variation on protein structure. Conclusions: The study supports the evidence for the prevalence of PNPLA1 mutations in distant ethnic groups. Despite the significant number of reported ARCI cases with PNPLA1 variants, a straightforward genotype-phenotype correlation cannot be established.


Assuntos
Ictiose Lamelar/genética , Lipase/genética , Adulto , Idoso , Códon sem Sentido/genética , Grupos Étnicos/genética , Família , Feminino , Genes Recessivos/genética , Humanos , Ictiose Lamelar/metabolismo , Lipase/fisiologia , Masculino , Pessoa de Meia-Idade , Mutação/genética , Paquistão , Linhagem , Fenótipo , Sequenciamento Completo do Exoma/métodos
13.
J Coll Physicians Surg Pak ; 29(1): 66-69, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30630573

RESUMO

OBJECTIVE: To analyse the diagnostic performance of MTB/RIF assay for the diagnosis of pulmonary tuberculosis and detection of rifampicin resistance using sputum samples. STUDY DESIGN: Observational cross-sectional study. PLACE AND DURATION OF STUDY: Provincial TB Reference Laboratory (PTRL), Hayatabad Medical Complex, Peshawar, Pakistan, from January to October 2015. METHODOLOGY: A total of 268 participants were consecutively enrolled in the study after meeting the inclusion criteria. Their sputum samples were collected and processed by N-acetyl-L-cysteine-sodium hydroxide (NALC-NaOH) method and GeneXpert MTB/RIF assay. RESULTS: This study determined the overall sensitivity and specificity of MTB/RIF assay, it was 92.4% (86/93) and 97.1% (138/142), respectively. The sensitivity was 98.4% (60/61) in culture proven smear positive samples, whilst sensitivity in culture proven smear negative samples was 93.7% (30/32), using culture as reference standard. CONCLUSION: GeneXpert MTB/RIF assay could greatly improve early diagnosis of PTB in smear negative cases as well as multidrug resistant tuberculosis.


Assuntos
Antibióticos Antituberculose/uso terapêutico , Técnicas de Diagnóstico Molecular/métodos , Mycobacterium tuberculosis/efeitos dos fármacos , Mycobacterium tuberculosis/genética , Reação em Cadeia da Polimerase/métodos , Rifampina/uso terapêutico , Escarro/microbiologia , Tuberculose Resistente a Múltiplos Medicamentos , Tuberculose Pulmonar/diagnóstico , Tuberculose Pulmonar/tratamento farmacológico , Técnicas Bacteriológicas/métodos , Estudos Transversais , Feminino , Humanos , Masculino , Mycobacterium tuberculosis/isolamento & purificação , Sensibilidade e Especificidade , Análise de Sequência de DNA/métodos
14.
Int J Biol Macromol ; 121: 1086-1100, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30342936

RESUMO

Heavy metals have substantively high values of half-lives with nonbiodegradable chemical nature. At the same time, their ionic compounds have amazing ability of ionization in aqueous media. Remediation of such metals from wastewaters has been very complex, expensive and a challenging goal for ages. Several methods have been employed to segregate heavy metals and their corresponding anions, and organic contents from wastewaters in industries. In this review, a comparative analysis of various technologies is summarized with their working principle, advantages, and limitations followed by special focus on biosorption. Chitosan, chitin, and their derivatives are significantly important for their excessive availability, cost effectiveness, environment friendliness and biodegradability characteristics. Electrostatic Interactions (EIs) are extremely important in biosorption phenomenon which have been overlooked by researchers in available literature of chitin and chitosan-facilitated biosorption. Therefore, this review covers such an important gap and special focus was given exclusively to thematic concepts of EIs, chemical potential, spatial charge distribution and its movement along the electrical double layer and corresponding zeta potential in aqueous solution of biopolymer with impurities. Surface chemistry and binding mechanism of metal ions and other charged impurities with biopolymer surface is target of this review.


Assuntos
Quitina/química , Quitosana/química , Eliminação de Resíduos Líquidos/métodos , Águas Residuárias/química , Animais , Humanos
15.
Sci Total Environ ; 647: 1539-1546, 2019 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-30180358

RESUMO

Biopolymers derived from modified poultry feathers (KB) were developed to target a broad range of potentially toxic trace elements for their removal from synthetic wastewater and industrial process affected water. The chemical modifications increased surface functionality of KBs for enhanced metal adsorption. Unmodified KB (SM-03) added to synthetic wastewater spiked with nine transition and redox sensitive elements (30-50 µg L-1 each) removed >82% of Pb, Ni, Co and Zn, whereas modified KBs (SM-01 and SM-06) removed 68-100% of SeIV, VV and CrVI. Similar results were observed when spiked process water was used. Experimental observation suggested chemical reduction of redox sensitive elements on the modified KB surfaces to their non-toxic/non-mobile redox states. Biopolymer SM-06 showed a maximum adsorption capacity of 17 mg g-1 for VV and 15 mg g-1 for CrVI at ~20 °C. Due to the abundance of raw material and simplicity of the modifications presented here, modified KBs may serve as a useful option for large-scale water treatment.


Assuntos
Queratinas/química , Metais/química , Eliminação de Resíduos Líquidos/métodos , Águas Residuárias/química , Poluentes Químicos da Água/química , Adsorção , Biopolímeros , Metais/análise , Metais Pesados , Poluentes Químicos da Água/análise
16.
Cureus ; 10(8): e3235, 2018 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-30410841

RESUMO

A 26-year-old man presented to the emergency room with abdominal pain, nausea, and vomiting for four days. His medical history was significant for hypertension and end-stage renal disease managed with hemodialysis. He had been noncompliant with the antihypertensive regimen which included nifedipine, hydralazine, and spironolactone. At presentation, his blood pressure was 231/123 mmHg. Laboratory workup showed white blood count 17.3 × 109/L (normal range: 4.5 to 11.0 × 109/L), hemoglobin 7.8 gm/dL (normal range: 13.5 to 17.5 g/dL), platelet count 46 × 109/L (normal range: 150 to 400 × 109/L), reticulocyte count 7.8%, total bilirubin 1 mg/dL (normal range: 0.1 to 1.2 mg/dL), lactate dehydrogenase 1,235 U/L (normal range: 140 to 280 U/L), haptoglobin < 10 mg/dL, and a direct Coomb's test was negative. Numerous schistocytes were identified on the peripheral blood smear. The patient was diagnosed with thrombotic microangiopathy secondary to severe hypertension and was started on intravenous nicardipine. With appropriate blood pressure control, hematological parameters improved with normalization of the platelet count within 10 days. Notably, the patient had one similar episode of hypertension-induced thrombotic microangiopathy within a period of the last three months and ADAMTS-13 (a disintegrin and metalloprotease with thrombospondin type 1 motif 13) activity was normal on his previous admission.

17.
Adv Colloid Interface Sci ; 261: 28-40, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30301519

RESUMO

In this review, we discussed the micro-level aspects of protein supported biosorption. The mechanism, surface chemistry in terms of energy interactions and electron transfer process (ETP) of peptide systems within protein are three important areas that provide mechanistic insight into protein supported biosorption. The functional groups in proteinous material like hydroxyl (-OH), carbonyl (>C=O), carboxyl (-COOH) and sulfhydryl (-SH) play a significant role in the biosorption of variety of pollutants such as metal ions, metalloids, and organic matters in wastewaters. The mechanistic aspects of biosorption are crucial not only for the separation process but also they contribute towards stoichiometric considerations and mathematical modelling process. The surface chemistry of applied biosorbents relies on interfacial components whose interaction energies are estimated with help of classical Derjaguin, Landau, Verwey, and Overbeek (DLVO) theory mathematically. Proteins are the fundamental molecules of many biomaterial used for the biosorption of contaminents and peptide bond is considered as the backbone of proteins. The charge variations on peptide bonding is the result of ETP whose discussion was made part of this review for understaning number of biological and technological processes of vital interests. In addition, this review was complemented by exhaustive overview of kinetic and thermodynamics perspectives of biosorption process.

18.
Mol Biol Rep ; 45(4): 565-570, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29926385

RESUMO

Autosomal recessive osteopetrosis is a severe fatal disorder with an average incidence of around 1:250,000. It is diagnosed soon after birth or within the 1st year of life with severe symptoms of abnormal bone remodelling. This study was aimed to identify the underlying genetic cause of the disease in a Pakistani family segregating infantile malignant osteopetrosis in autosomal recessive pattern. Whole exome sequencing of the proband was performed using the 51 Mb SureSelect V4 library kit and sequenced using the Illumina HiSeq2500 sequencing system. The reads were analysed using standard bioinformatic data analysis pipeline. The genotype of candidate variants was confirmed in the proband and his normal parents by Sanger sequencing. Two novel homozygous missense variants were found in the same codon 204 of CLCN7 NM_001287.5:c.[610A>T;612C>G] predicting p.(Ser204Trp) variant in the protein. Sanger sequencing and RFLP assay verified that both these variants were heterozygous in the unaffected parents. Moreover, these variants were not detected in the unrelated healthy Pakistani subjects (200 chromosomes), ExAC, dbSNP, or the 1000 Genomes Project data. Multiple bioinformatics tools unanimously predicted the p.(Ser204Trp) variant as deleterious. CLCN7 mutation p.(Ser204Trp) is the likely cause of the osteopetrosis disease in the Pakistani family. This study expands the restricted spectrum of CLCN7 mutations associated with infantile malignant osteopetrosis and indicates clinical significance of whole exome sequencing in the diagnosis of clinically and genetically heterogenous osteopetrosis phenotype. These data should be helpful in the improved genetic counselling, carrier identification and prenatal diagnosis of the affected family.


Assuntos
Canais de Cloreto/genética , Canais de Cloreto/fisiologia , Osteopetrose/genética , Adulto , Códon/genética , Exoma , Feminino , Genótipo , Homozigoto , Humanos , Recém-Nascido , Masculino , Mutação , Mutação de Sentido Incorreto/genética , Paquistão , Linhagem , Fenótipo , Sequenciamento Completo do Exoma/métodos
19.
Mater Sci Eng C Mater Biol Appl ; 90: 446-453, 2018 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-29853111

RESUMO

Hydrogel prepared from keratin shows potential applications in tissue engineering. However, the importance of the keratin sources has not been considered. The objectives of this study were to characterize and compare the rheological (storage modulus), physical (porosity, pore size, swelling capacity, and water contact angle) and in vitro cell compatibility of hydrogel scaffolds prepared from various keratin sources. Keratins were characterized by means of their molecular weight, amino acid composition, thermal and conformational properties. Hydrogels from chicken feather keratins demonstrated substantially higher storage modulus (G') than hair and wool keratin hydrogels. However, higher swelling capacity (>3000%) was determined in hair and wool over feather keratin (1500%) hydrogels. Our results suggest that small molecular weight and ß-sheet conformation of feather keratin (~10 kDa) facilitated the self-assembly of rigid hydrogels through disulfide bond re-oxidation. Whereas, high molecular weight (10-75 kDa) stretchable α-helix conformation in hair and wool keratins resulted in weaker hydrogels. The cell cultures using fibroblasts showed the highest proliferation rate on chicken feather keratin hydrogel scaffolds. After 15 days of culture, partial breakdown of keratin fibers was observed. Results indicate that stiffer avian keratins can be used to fabricate more mechanically robust biomaterials than mammalian keratins.


Assuntos
Hidrogéis/química , Queratinas/química , Animais , Materiais Biocompatíveis/química , Proliferação de Células/efeitos dos fármacos , Cabelo/química , Hidrogéis/farmacologia , Conformação Proteica , Reologia , Engenharia Tecidual , Lã/química
20.
Plant Physiol Biochem ; 126: 47-54, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29499435

RESUMO

Chickpea is mostly grown in rainfed environments and, consequently, its growth is affected by drought stress. This study comprised two independent experiments to investigate the physiological basis of drought tolerance in desi and kabuli chickpea genotypes. In Experiment 1, six genotypes each of desi and kabuli types were planted in soil-filled pots under natural conditions. Ten days after planting, soil moisture was maintained at 75% water holding capacity (well-watered) or 50% water holding capacity (drought stress). Drought stress significantly reduced seedling dry weight, specific leaf area (SLA), and transpiration efficiency (TE) in both chickpea types, relative to the well-watered controls, but their responses varied, with relatively fewer reductions in desi genotypes, Bakhar-2011 and Bitall-2016, and kabuli genotypes, K-70005 and Noor-2013. These four genotypes were used in experiment 2, which was similar to the first but conducted in a climate chamber and the drought was imposed at planting. Drought stress reduced stand establishment, growth, photosynthesis, water relations, α-amylase activity, sugar metabolism, proline, phenolic accumulation, nitrogen and potassium to varying degrees in the four tested genotypes. The reductions were greater in kabuli genotypes than desi genotypes. Under drought stress, desi genotypes germinated better, and had higher trehalose, total and reducing sugars, sucrose, α-amylase activity, photosynthesis, growth, and mineral concentrations than kabuli genotypes. The desi genotype Bakhar-2011 performed better under drought than the desi genotype Bitall-2016 due to better germination metabolism and accumulation of free proline, total phenolics, and trehalose, which maintained carbon assimilation and prevented oxidative damage. In conclusion, desi chickpea types tolerate drought stress better than kabuli types due to better germination metabolism and trehalose accumulation, which prevented oxidative damage, helped with efficient water use, and sustained plant growth.


Assuntos
Cicer , Genótipo , Germinação , Estresse Fisiológico , Trealose/biossíntese , Cicer/genética , Cicer/crescimento & desenvolvimento , Desidratação/genética , Desidratação/metabolismo , Trealose/genética
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