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1.
Sci Rep ; 14(1): 12791, 2024 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-38834768

RESUMO

In the conventional finite control set model predictive torque control, the cost function consists of different control objectives with varying units of measurements. Due to presence of diverse variables in cost function, weighting factors are used to set the relative importance of these objectives. However, selection of these weighting factors in predictive control of electric drives and power converters still remains an open research challenge. Improper selection of weighting factors can lead to deterioration of the controller performance. This work proposes a novel weighting factor tuning method based on the Multi-Criteria-Decision-Making (MCDM) technique called the Entropy method. This technique has several advantages for multi-objective problem optimization. It provides a quantitive approach and incorporates uncertainties and adaptability to assess the relative importance of different criteria or objectives. This technique performs the online tuning of the weighting factor by forming a data set of the control objectives, i.e., electromagnetic torque and stator flux magnitude. After obtaining the error set of control variables, the objective matrix is normalized, and the entropy technique is applied to design the corresponding weights. An experimental setup based on the dSpace dS1104 controller is used to validate the effectiveness of the proposed method for a two-level, three-phase voltage source inverter (2L-3P) fed induction motor drive. The dynamic response of the proposed technique is compared with the previously proposed MCDM-based weighting factor tuning technique and conventional MPTC. The results reveal that the proposed method provides an improved dynamic response of the drive under changing operating conditions with a reduction of 28% in computational burden and 38% in total harmonic distortion, respectively.

2.
Radiol Case Rep ; 19(7): 2621-2624, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38645958

RESUMO

An anomalous origin of the right coronary artery has been documented in up to 0.92% of the general population, which is more common than an anomalous origin of the left coronary artery. We present a case of an elderly hypertensive man who developed mild dyspnoea on exertion for 3 months with associated retro-sternal pain as well as occasional palpitation which all tend to subside at rest. An electrocardiogram showed evidence of left atrial enlargement. A coronary computed tomographic angiogram was acquired with a 160-slice scanner which revealed the right coronary artery to originate from the left aortic sinus with a retro-aortic pattern of anatomical course. Vascular wall calcifications were noted with multilevel luminal narrowing on the left anterior descending however distal opacification was adequate. Our case further depicts the reason for keeping in mind anatomical variations while evaluating cardiac pathologies even among Black Africans.

3.
ACS Omega ; 9(16): 17706-17725, 2024 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-38680368

RESUMO

Herein, this study was compiled to investigate a suitable solution for the fabrication and development of the multifunctional defense tent from previously reported research. The military always needs to protect their soldiers and equipment from detection. The advancement of infrared detection technology emphasizes the significance of infrared camouflage materials, reducing thermal emissions for various applications. Objects emit infrared radiation detectable by devices, making military targets easily identifiable. Infrared camouflage mitigates detection by lowering an object's infrared radiation, achieved by methods such as reducing surface temperature, which is crucial in designing military tents with infrared (IR) camouflage, considering water repellency and antibacterial features. Water repellency, as well as antimicrobial properties, in army tents is also important as they have to survive in different situations. All these problems should be addressed with the required properties; therefore, the authors try to introduce a new method from which multifunctional tents can be produced through economical, multifunctional, and sustainable materials that have IR protection, water repellency, ultraviolet (UV) protection, air filtration and permeability, and antimicrobial properties. There is still no tent that performs multiple functions at a time, even those functions that do not correlate with each other such as water repellency, IR protection, antimicrobial, and air permeability. So, a multifunctional tent could be the solution to all these problems having all the properties discussed above. In this study based on the literature review, authors concluded a method for the required tent for canvas fabric coated with zinc sulfide (ZnS), graphene oxide (GO), and zinc oxide (ZnO), or these materials should be incorporated in fiber formation because fiber composition has more impact. These multifunctional tents will be very beneficial due to their multifunctions like weather resistance, durability, and long life. These would help the army in their missions by concealing their soldiers and equipment from detection by cameras and providing filtered air inside the tent in case of gases or explosions. The proposed method will help to fulfill the stated and implied needs of customers.

4.
Sci Rep ; 14(1): 3962, 2024 Feb 17.
Artigo em Inglês | MEDLINE | ID: mdl-38368469

RESUMO

This work presents an energy management scheme (EMS) based on a rule-based grasshopper optimization algorithm (RB-GOA) for a solar-powered battery-ultracapacitor hybrid system. The main objective is to efficiently meet pulsed load (PL) demands and extract maximum energy from the photovoltaic (PV) array. The proposed approach establishes a simple IF-THEN set of rules to define the search space, including PV, battery bank (BB), and ultracapacitor (UC) constraints. GOA then dynamically allocates power shares among PV, BB, and UC to meet PL demand based on these rules and search space. A comprehensive study is conducted to evaluate and compare the performance of the proposed technique with other well-known swarm intelligence techniques (SITs) such as the cuckoo search algorithm (CSA), gray wolf optimization (GWO), and salp swarm algorithm (SSA). Evaluation is carried out for various cases, including PV alone without any energy storage device, variable PV with a constant load, variable PV with PL cases, and PV with maximum power point tracking (MPPT). Comparative analysis shows that the proposed technique outperforms the other SITs in terms of reducing power surges caused by PV power or load transition, oscillation mitigation, and MPP tracking. Specifically, for the variable PV with constant load case, it reduces the power surge by 26%, 22%, and 8% compared to CSA, GWO, and SSA, respectively. It also mitigates oscillations twice as fast as CSA and GWO and more than three times as fast as SSA. Moreover, it reduces the power surge by 9 times compared to CSA and GWO and by 6 times compared to SSA in variable PV with the PL case. Furthermore, its MPP tracking speed is approximately 29% to 61% faster than its counterparts, regardless of weather conditions. The results demonstrate that the proposed EMS is superior to other SITs in keeping a stable output across PL demand, reducing power surges, and minimizing oscillations while maximizing the usage of PV energy.

5.
Plant Physiol Biochem ; 203: 108056, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37783072

RESUMO

To investigate the mechanism for drought promoting soluble sugar accumulation will be conducive to the enhancement of citrus fruit quality as well as stress tolerance. Fruit sucrose mainly derives from source leaves. Its accumulation in citrus fruit cell vacuole involves in two processes of unloading in the fruit segment membrane (SM) and translocating to the vacuole of fruit juice sacs (JS). Here, transcript levels of 47 sugar metabolism- and transport-related genes were compared in fruit SM or JS between drought and control treatments. Results indicated that transcript levels of cell wall invertase genes (CwINV2/6) and sucrose synthase genes (SUS2/6) in the SM were significantly increased by the drought. Moreover, transcript levels of SWEET genes (CsSWEET1/2/4/5/9) and monosaccharide transporter gene (CsPMT3) were significantly increased in SM under drought treatment. On the other hand, SUS1/3 and vacuolar invertase (VINV) transcript levels were significantly increased in JS by drought; CsPMT4, sucrose transporter gene 2 (CsSUT2), tonoplast monosaccharide transporter gene 2 (CsTMT2), sugar transport protein gene 1 (CsSTP1), two citrus type I V-PPase genes (CsVPP1, and CsVPP2) were also significantly increased in drought treated JS. Collectively, the imposition of drought stress resulted in more soluble sugar accumulation through enhancing sucrose download by enhancing sink strength- and transport ability-related genes, such as CwINV2/6, SUS2/6, CsSWEET1/2/4/5/9, and CsPMT3, in fruit SM, and soluble sugar storage ability by increasing transcript levels of genes, such as CsPMT4, VINV, CsSUT2, CsTMT2, CsSTP1, CsVPP1, and CsVPP2, in fruit JS.


Assuntos
Citrus , Açúcares , Açúcares/metabolismo , Frutas/metabolismo , Citrus/genética , Citrus/metabolismo , Secas , beta-Frutofuranosidase/genética , beta-Frutofuranosidase/metabolismo , Carboidratos , Sacarose/metabolismo , Proteínas de Membrana Transportadoras/genética , Monossacarídeos/metabolismo , Regulação da Expressão Gênica de Plantas
6.
Environ Monit Assess ; 195(11): 1356, 2023 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-37870632

RESUMO

This study evaluated the adsorptive properties of deep eutectic solvent (DES)-treated palm oil mill sludge adsorbents for methylene blue removal. The adsorbents were prepared at a ratio of 1:2 at 80°C to form P1:D2@80°C, at 25°C to form P1:D2@25°C and without DES to form dry sludge (DS). The adsorbent samples were characterized for surface functional groups, textural properties and surface morphology. The values of specific area were 534, 236 and 184 m2/g, respectively. Batch adsorption of methylene blue at varying concentration, adsorbent dosage, pH, contact time and temperature was performed. The maximum adsorption capacities by Sips model were recorded as 72.07, 56.18 and 48.33 mg/g for P1:D2@80°C, P1:D2@25°C and DS, respectively. P1:D2@80°C displayed the highest rate constant (Ks = 0.0037 g/mg.min). The adsorption data were well fitted into Sips isotherm and pseudo-second-order kinetic models, suggesting that the adsorption is a physical process onto heterogeneous adsorbent surface via pore filling and electrostatic attraction. The adsorption was spontaneous, feasible and exothermic with decreased disorderliness in the solid-bulk solution interface. The DES-treated palm oil mill sludge adsorbent is a promising alternative adsorbent for dye removal from wastewater.


Assuntos
Azul de Metileno , Esgotos , Óleo de Palmeira , Esgotos/química , Azul de Metileno/química , Solventes Eutéticos Profundos , Adsorção , Monitoramento Ambiental
7.
Dig Dis Sci ; 68(11): 4175-4185, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37676630

RESUMO

BACKGROUND: Mitochondrial DNA (mtDNA) is a damage-associated molecular pattern molecule that can trigger an immune-inflammatory response during pancreatic necrosis (PN). AIM: To evaluate the role of mtDNA in the detection of PN and severe acute pancreatitis (SAP). METHODS: The present study included 40 AP patients and 30 controls. AP patients were grouped into mild AP (MAP, n = 15), moderately severe AP (MSAP, n = 17), and SAP (n = 8). Also, the SAP + MSAP group, n = 25, was compared to MAP. AP patients were divided into NAP (n = 7) and non-necrotizing AP (n = 33). The mtDNA copy number, IL-6, and STAT3 expression levels were measured using quantitative real-time PCR. RESULTS: The mtDNA, IL-6, and STAT3 levels were significantly higher in AP patients than in controls and in the SAP + MSAP than in the MAP. However, the SAP had non-significantly higher levels of mtDNA, STAT3, and IL-6 levels than the MSAP and statistically significant mtDNA, STAT3, and IL-6 when compared to the MAP. mtDNA, IL-6, and STAT3 showed significantly higher levels in NAP compared with non-necrotizing AP. mtDNA was positively correlated with STAT3, IL-6, CRP, APACHE, and CT severity index (CTSI) and negatively correlated with albumin. In the receiver operating curve (ROC), mtDNA was the most significant independent predictor of PN and MAP vs. SAP + MSAP. IL-6 and mtDNA + CRP had higher diagnostic abilities for SIRS and high CTSI. CONCLUSIONS: mtDNA could enhance the prediction of NAP; however, its diagnostic ability of SAP needs further study.

8.
Environ Monit Assess ; 195(10): 1218, 2023 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-37718332

RESUMO

This study presents the kinetics and thermodynamics of biomass pyrolysis. The kinetics of the pyrolysis process was estimated using ten kinetic models from three different mechanisms, namely chemical reaction, diffusion, and nucleation and growth. Results showed that each pyrolysis subdivision was described by a different reaction model, signifying the complex nature of the pyrolysis process. The average values of activation energy determined from the kinetic models for empty fruit bunch, coconut shell, bamboo, and cardboard are 10.2-64.6 kJ/mol, 18.7-186.2 kJ/mol, 8.0-70.8 kJ/mol, and 13.1-277.3 kJ/mol, respectively. The biomass pyrolysis is endothermic and non-spontaneous and would require external energy to initiate the degradation process. The findings are helpful in characterizing the thermal degradation of biomass in exploring its potential as a source of alternative solid fuel.


Assuntos
Cocos , Frutas , Óleo de Palmeira , Cinética , Pirólise , Monitoramento Ambiental , Termodinâmica
9.
Bioengineered ; 14(1): 2259526, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37747278

RESUMO

The continually expanding global population has necessitated increased food supply production. Thus, agricultural intensification has been required to keep up with food supply demand, resulting in a sharp rise in pesticide use. The pesticide aids in the prevention of potential losses caused by pests, plant pathogens, and weeds, but excessive use over time has accumulated its occurrence in the environment and subsequently rendered it one of the emerging contaminants of concern. This review highlights the sources and classification of herbicides and their fate in the environment, with a special focus on the effects on human health and methods to remove herbicides. The human health impacts discussion was in relation to toxic effects, cell disruption, carcinogenic impacts, negative fertility effects, and neurological impacts. The removal treatments described herein include physicochemical, biological, and chemical treatment approaches, and advanced oxidation processes (AOPs). Also, alternative, green, and sustainable treatment options were discussed to shed insight into effective treatment technologies for herbicides. To conclude, this review serves as a stepping stone to a better environment with herbicides.


Assuntos
Herbicidas , Praguicidas , Humanos , Herbicidas/toxicidade , Praguicidas/toxicidade , Agricultura , Carcinogênese , Alimentos
10.
Brain Sci ; 13(9)2023 Sep 14.
Artigo em Inglês | MEDLINE | ID: mdl-37759920

RESUMO

The independent detection and classification of brain malignancies using magnetic resonance imaging (MRI) can present challenges and the potential for error due to the intricate nature and time-consuming process involved. The complexity of the brain tumor identification process primarily stems from the need for a comprehensive evaluation spanning multiple modules. The advancement of deep learning (DL) has facilitated the emergence of automated medical image processing and diagnostics solutions, thereby offering a potential resolution to this issue. Convolutional neural networks (CNNs) represent a prominent methodology in visual learning and image categorization. The present study introduces a novel methodology integrating image enhancement techniques, specifically, Gaussian-blur-based sharpening and Adaptive Histogram Equalization using CLAHE, with the proposed model. This approach aims to effectively classify different categories of brain tumors, including glioma, meningioma, and pituitary tumor, as well as cases without tumors. The algorithm underwent comprehensive testing using benchmarked data from the published literature, and the results were compared with pre-trained models, including VGG16, ResNet50, VGG19, InceptionV3, and MobileNetV2. The experimental findings of the proposed method demonstrated a noteworthy classification accuracy of 97.84%, a precision success rate of 97.85%, a recall rate of 97.85%, and an F1-score of 97.90%. The results presented in this study showcase the exceptional accuracy of the proposed methodology in accurately classifying the most commonly occurring brain tumor types. The technique exhibited commendable generalization properties, rendering it a valuable asset in medicine for aiding physicians in making precise and proficient brain diagnoses.

11.
PLoS One ; 18(8): e0290669, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37624793

RESUMO

Global maximum power point (GMPP) tracking under shading conditions with low tracking time and reduced startup oscillations is one of the challenging tasks in photovoltaic (PV) systems. To cope with this challenge, an improved grasshopper optimization algorithm (IGOA) is proposed in this work to track the GMPP under partial shading conditions (PSC). The performance of the proposed approach is compared with well-known swarm intelligence techniques (SITs) such as gray wolf optimization (GWO), cuckoo search algorithm (CSA), salp swarm algorithm (SSA), improved SSA based on PSO (ISSAPSO), and GOA in terms of tracking time, settling time, failure rate, and startup oscillations. For a fair comparison, the PV system is analysed under uniform irradiance and three PSCs having four to six peaks in the power-voltage characteristic curves and using three to six search agents for each SIT. For this purpose, a PV system containing six solar panels has been built using MATLAB/SIMULINK software, and statistical analysis is performed in detail. The results show that the IGOA tracks the GMPP in 0.07 s and settles the output in 0.12 s which is 25% to 96% faster than its counterparts. Moreover, IGOA proves its consistency with a minimal tracking failure rate of 0% for four to six search agents with negligible startup oscillations. This work is expected to be helpful to PV system installers in obtaining maximum benefits from the installed system.


Assuntos
Algoritmos , Gafanhotos , Animais , Crioterapia , Inteligência , Modalidades de Fisioterapia
12.
Environ Sci Pollut Res Int ; 30(36): 85903-85909, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37395883

RESUMO

The concentrations of potentially toxic metals like lead (Pb), cadmium (Cd), and mercury (Hg) in healthy lactating mothers of Lahore city were estimated during 2020-2021 with the help of a flame atomic absorption spectrometer (FAAS). Seventy samples of breast milk were collected from two different age groups, namely, G-1 (25-30 years) and G-2 (31-40 years). The results showed that Cd contents were below the detection limit of the measuring instrument; however, the Pb and Hg contents were detected with great ease. The mean concentrations of Pb and Hg in the G-1 corresponding to the age between 25 and 30 years were observed to be 1.914 ± 0.493 µg/L and 10.432 ± 3.249 µg/L, respectively. For the G-2 with an age limit between 31 and 40 years, the concentrations of Pb and Hg were estimated to be 2.045 ± 0.502 µg/L and 11.527 ± 3.231 µg/L, respectively. The T-test analysis of concentrations of these toxic metals indicated a significant correlation between the content levels of Pb and Hg (p < 0.05). The observed values of toxic metals were significantly more frequent than those suggested by WHO (World Health Organization). An increase in the concentrations of Pb and Hg is directly associated with the location of the target population. As a result, it is turned out that the majority of the lactating woman with significantly high levels of Pb and Hg belongs to industrial areas of Lahore. To avoid such conditions, residential areas must be at larger distances, in addition, to strictly abiding by the environmental policies of the government.


Assuntos
Mercúrio , Metais Pesados , Humanos , Feminino , Adulto , Leite Humano/química , Cádmio/análise , Chumbo/análise , Lactação , Paquistão , Mercúrio/análise , Intoxicação por Metais Pesados , Metais Pesados/análise
13.
Sensors (Basel) ; 23(13)2023 Jun 29.
Artigo em Inglês | MEDLINE | ID: mdl-37447872

RESUMO

Underwater wireless sensor networks (UWSNs) have gained prominence in wireless sensor technology, featuring resource-limited sensor nodes deployed in challenging underwater environments. To address challenges like power consumption, network lifetime, node deployment, topology, and propagation delays, cooperative transmission protocols like co-operative (Co-UWSN) and co-operative energy-efficient routing (CEER) have been proposed. These protocols utilize broadcast capabilities and neighbor head node (NHN) selection for cooperative routing. This research introduces NBEER, a novel neighbor-based energy-efficient routing protocol tailored for UWSNs. NBEER aims to surpass the limitations of Co-UWSN and CEER by optimizing NHNS and cooperative mechanisms to achieve load balancing and enhance network performance. Through comprehensive MATLAB simulations, we evaluated NBEER against Co-UWSN and CEER, demonstrating its superior performance across various metrics. NBEER significantly maximizes end-to-end delay, reduces energy consumption, improves packet delivery ratio, extends network lifetime, and enhances total received packets analysis compared to the existing protocols.


Assuntos
Benchmarking , Reprodução , Fenômenos Físicos , Tecnologia sem Fio
14.
Lancet ; 401(10393): 2036, 2023 06 17.
Artigo em Inglês | MEDLINE | ID: mdl-37330738
15.
Arch Osteoporos ; 18(1): 71, 2023 05 19.
Artigo em Inglês | MEDLINE | ID: mdl-37204537

RESUMO

Due to its high prevalence, we aimed to create postmenopausal osteoporosis clinical practice guideline via GRADE-ADOLOPMENT for Pakistan. We recommend a higher dose (2000-4000 IU) of vitamin D for osteoporotic patients who are old, have malabsorption, or are obese. The guideline will help standardize care provision and improve health care outcomes for osteoporosis. PURPOSE: Postmenopausal osteoporosis affects one in every five postmenopausal women in Pakistan. An evidence-based clinical practice guideline (CPG) is needed to standardize care provision to optimize health outcomes. Hence, we aimed to develop CPG for the management of postmenopausal osteoporosis in Pakistan. METHODS: The GRADE-ADOLOPMENT process was used to adopt (as is or with minor changes), exclude (omit), or adapt (modify based on local context) recommendations to the source guideline (SG)-clinical practice guidelines for the diagnosis and treatment of postmenopausal osteoporosis-2020 update from American Association of Clinical Endocrinology (AACE). RESULTS: The SG was "adoloped" to cater to the local context. The SG consisted of 51 recommendations. Forty-five recommendations were adopted as is. Due to unavailability of drugs, 4 recommendations were adopted with minor changes, and one was excluded, while one recommendation was adopted with the inclusion of use of a surrogate FRAX tool specific for Pakistan. One recommendation regarding vitamin D dosage was adapted to recommend a dose of 2000-4000 IU of vitamin D in patients with obesity, malabsorption, and old age. CONCLUSION: The developed Pakistani postmenopausal osteoporosis guideline consists of 50 recommendations. The guideline created recommends a higher dose (2000-4000 IU) of vitamin D for patients who are old, have malabsorption, or are obese, which is an adaptation from the SG by the AACE. This higher dose is justified as lower doses prove to be suboptimal in these groups and should be complemented with baseline vitamin D and calcium levels.


Assuntos
Osteoporose Pós-Menopausa , Osteoporose , Feminino , Humanos , Obesidade , Osteoporose/tratamento farmacológico , Osteoporose Pós-Menopausa/tratamento farmacológico , Osteoporose Pós-Menopausa/diagnóstico , Paquistão/epidemiologia , Vitamina D/uso terapêutico , Vitaminas/uso terapêutico
16.
Artigo em Inglês | BIGG - guias GRADE | ID: biblio-1434784

RESUMO

Due to its high prevalence, we aimed to create postmenopausal osteoporosis clinical practice guideline via GRADE-ADOLOPMENT for Pakistan. We recommend a higher dose (2000-4000 IU) of vitamin D for osteoporotic patients who are old, have malabsorption, or are obese. The guideline will help standardize care provision and improve health care outcomes for osteoporosis.Postmenopausal osteoporosis affects one in every five postmenopausal women in Pakistan. An evidence-based clinical practice guideline (CPG) is needed to standardize care provision to optimize health outcomes. Hence, we aimed to develop CPG for the management of postmenopausal osteoporosis in Pakistan.The GRADE-ADOLOPMENT process was used to adopt (as is or with minor changes), exclude (omit), or adapt (modify based on local context) recommendations to the source guideline (SG)-clinical practice guidelines for the diagnosis and treatment of postmenopausal osteoporosis-2020 update from American Association of Clinical Endocrinology (AACE). The SG was "adoloped" to cater to the local context. The SG consisted of 51 recommendations. Forty-five recommendations were adopted as is. Due to unavailability of drugs, 4 recommendations were adopted with minor changes, and one was excluded, while one recommendation was adopted with the inclusion of use of a surrogate FRAX tool specific for Pakistan. One recommendation regarding vitamin D dosage was adapted to recommend a dose of 2000-4000 IU of vitamin D in patients with obesity, malabsorption, and old age. The developed Pakistani postmenopausal osteoporosis guideline consists of 50 recommendations. The guideline created recommends a higher dose (2000-4000 IU) of vitamin D for patients who are old, have malabsorption, or are obese, which is an adaptation from the SG by the AACE. This higher dose is justified as lower doses prove to be suboptimal in these groups and should be complemented with baseline vitamin D and calcium levels.


Assuntos
Humanos , Osteoporose Pós-Menopausa/tratamento farmacológico , Paquistão/epidemiologia , Vitamina D/uso terapêutico
18.
Genes (Basel) ; 14(2)2023 01 27.
Artigo em Inglês | MEDLINE | ID: mdl-36833258

RESUMO

Charcot-Marie-Tooth disease (CMT) and autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS) are large heterogeneous groups of sensory, neurological genetic disorders characterized by sensory neuropathies, muscular atrophies, abnormal sensory conduction velocities, and ataxia. CMT2EE (OMIM: 618400) is caused by mutations in MPV17 (OMIM: 137960), CMT4F (OMIM: 614895) is caused by PRX (OMIM: 605725), CMTX1 (OMIM: 302800) is caused by mutations in GJB1 (OMIM: 304040), and ARSACS (OMIM: 270550) is caused by mutations in SACS (OMIM: 604490). In this study, we enrolled four families: DG-01, BD-06, MR-01, and ICP-RD11, with 16 affected individuals, for clinical and molecular diagnoses. One patient from each family was analyzed for whole exome sequencing and Sanger sequencing was done for the rest of the family members. Affected individuals of families BD-06 and MR-01 show complete CMT phenotypes and family ICP-RD11 shows ARSACS type. Family DG-01 shows complete phenotypes for both CMT and ARSACS types. The affected individuals have walking difficulties, ataxia, distal limb weakness, axonal sensorimotor neuropathies, delayed motor development, pes cavus, and speech articulations with minor variations. The WES analysis in an indexed patient of family DG-01 identified two novel variants: c.83G>T (p.Gly28Val) in MPV17 and c.4934G>C (p.Arg1645Pro) in SACS. In family ICP-RD11, a recurrent mutation that causes ARSACS, c.262C>T (p.Arg88Ter) in SACS, was identified. Another novel variant, c.231C>A (p.Arg77Ter) in PRX, which causes CMT4F, was identified in family BD-06. In family MR-01, a hemizygous missense variant c.61G>C (p.Gly21Arg) in GJB1 was identified in the indexed patient. To the best of our knowledge, there are very few reports on MPV17, SACS, PRX, and GJB1 causing CMT and ARSACS phenotypes in the Pakistani population. Our study cohort suggests that whole exome sequencing can be a useful tool in diagnosing complex multigenic and phenotypically overlapping genetic disorders such as Charcot-Marie-Tooth disease (CMT) and spastic ataxia of Charlevoix-Saguenay type.


Assuntos
Doença de Charcot-Marie-Tooth , Neuropatia Hereditária Motora e Sensorial , Humanos , Doença de Charcot-Marie-Tooth/genética , Proteínas de Choque Térmico/genética , Ataxia , Proteínas de Membrana , Proteínas Mitocondriais
19.
Int J Phytoremediation ; 25(12): 1625-1635, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36823750

RESUMO

This study evaluated the characteristics of zinc chloride modified vitex doniana seed activated carbon (VDZnCl2) for the removal of methylene blue. VDZnCl2 was characterized for textural properties, surface morphology and surface chemistry. Batch adsorption of methylene blue by VDZnCl2 was evaluated for the effects of concentration, contact time, adsorbent dosage, and solution pH. The surface area increased from 14 to 933 m2/g with porous texture to facilitate adsorption. The SEM micrograph showed varieties of pores with widened cavities. The FTIR spectra showed the characteristics of O-H and C=C groups commonly found in carbonaceous materials. The maximum methylene blue adsorption was recorded as 238 mg/g at concentration range of 1-800 mg/L and VDZnCl2 dosage of 50 mg. Sips isotherm fitted well with the equilibrium data, suggesting that the adsorption by VDZnCl2 was a physical process onto its heterogeneous surface, while the applicability of pseudo-first-order kinetics implies that external diffusion was the rate controlling mechanism. The performance put up by VDZnCl2 suggested that it is a potential adsorbent substitute for dye wastewater treatment.


Vitex doniana commonly known as black plum is a deciduous flowering tree that grows around West Africa. Over 80% of the fruit is seed, and often discarded. To date, this seed has received marginal recognition as activated carbon feedstock for the removal of dyes and organic pollutants. However, there is no known study on the synthesis of zinc chloride (ZnCl2) modified activated carbon from vitex doniana seed and its adsorption of methylene blue from wastewater. Therefore, this study was a first-time attempt of the synthesis of ZnCl2 modified activated carbon adsorbent from vitex doniana and its removal of methylene blue from wastewater. This work systematically encouraged indigenous adsorbent synthesis for wastewater treatment and contribution to sustainable development goals.


Assuntos
Vitex , Poluentes Químicos da Água , Azul de Metileno/análise , Azul de Metileno/química , Carvão Vegetal/química , Adsorção , Poluentes Químicos da Água/química , Biodegradação Ambiental , Sementes/química , Cinética , Concentração de Íons de Hidrogênio
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