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A bimetallic cobalt/nickel-based metal-organic framework (MOF), [Co/Ni(µ3-tp)2(µ2-pyz)2], denoted as Co/Ni-MOF, has been successfully prepared by a hydrothermal method. The MOF was prepared by incorporating mixed O- and N- donor ligands, specifically terephthalic acid (tp) and pyrazine (pyz). The Mesoporous Co/Ni-MOF was comprehensively characterized using various analytical methods such as XRD, BET, FT-IR, TGA (23 % char yields), SEM, and EDS analyses. The synthesized mesoporous Co/Ni-MOF was then used to absorb Co (II) from aquatic areas efficiently. Several critical parameters, such as the beginning Co (II) concentration (25-150 mg/L), the effect of pH (2-10), the duration of time (5-30 min), and the amount of adsorbent (0.003-0.02 g), were systematically investigated. Remarkably, the Mesoporous Co/Ni MOF displayed a significant adsorption capacity of 372.66 mg g-1 in the optimum conditions, including pH = 6, amount of adsorbent = 0.003 g, duration of time = 25 min, and beginning Co (II) concentration = 150 mg/L. Adsorption data from the experimental studies of the mesoporous Co/Ni MOF are matched based on the non-linear pseudo-first-order (PSO) kinetic model (R2 = 0.9999), and a chemical process is suggested for chemisorption. Furthermore, the adsorption isotherms of Co (II) heavy metal ions (HMIs) are an excellent fit with the non-linear Temkin, indicating that they explain the sorbent/sorbate interactions concerning the heat of adsorption. It is evident from the thermodynamic parameters that adsorption is a spontaneous and favorable exothermic process. These results highlight the promising adsorption performance and potential applications of the mesoporous Co/Ni-MOF as an effective adsorbent for Co (II) elimination from aquatic areas. Four-cycle regeneration studies were the most effective for the Co (II) under study.
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Recent advancements in metal-organic frameworks (MOFs) underscore their significant potential in chemical and materials research, owing to their remarkable properties and diverse structures. Despite challenges like intrinsic brittleness, powdered crystalline nature, and limited stability impeding direct applications, MOF-based aerogels have shown superior performance in various areas, particularly in water treatment and contaminant removal. This review highlights the latest progress in MOF-based aerogels, with a focus on hybrid systems incorporating materials like graphene, carbon nanotube, silica, and cellulose in MOF aerogels, which enhance their functional properties. The manifold advantages of MOF-based aerogels in energy storage, adsorption, and catalysis are discussed, with an emphasizing on their improved stability, processability, and ease of handling. This review aims to unlock the potential of MOF-based aerogels and their real-world applications. Aerogels are expected to reshape the technological landscape of MOFs through enhanced stability, adaptability, and efficiency.
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To effectively remove Diazinon (DZ), Amoxicillin (AMX), and Crystal Violet (CV) from aquatic environments, a novel granular activated carbon (GAC) modified with Polyethylene glycol 600 (PEG) was created and manufactured. The chemical properties were investigated using a variety of characteristic analyses, including FT-IR, XRD, FESEM, and N2 adsorption/desorption. The effectiveness of GAC-PEG's adsorption for the removal of DZ, AMX, and CV was assessed under a variety of conditions, including a pH of 4-9 for the solution, 0.003-0.05 g doses of adsorbent, 50-400 ppm starting concentration, and a reaction time of 5-25 min. For DZ, AMX, and CV adsorption, the maximum adsorption capacity (Qmax) was 1163.933, 1163.100, and 1150.300 mg g-1, respectively. The Langmuir isotherm described all of the data from these adsorption experiments, and the pseudo-second-order well explains all-adsorption kinetics. Most contacts between molecules, electrostatic interactions, π-π interactions, hydrogen bonding, and entrapment in the modified CAG network were used to carry out the DZ, AMX, and CV adsorption on the GAC-PEG. The retrievability of the prepared adsorbent was successfully investigated in studies up to two cycles without loss of adsorption efficiency, and it was shown that it can be efficiently separated.
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Carbón Orgánico , Polietilenglicoles , Aguas Residuales , Contaminantes Químicos del Agua , Purificación del Agua , Polietilenglicoles/química , Aguas Residuales/química , Cinética , Contaminantes Químicos del Agua/química , Contaminantes Químicos del Agua/aislamiento & purificación , Adsorción , Carbón Orgánico/química , Purificación del Agua/métodos , Amoxicilina/química , Concentración de Iones de Hidrógeno , Violeta de Genciana/química , Violeta de Genciana/aislamiento & purificación , Espectroscopía Infrarroja por Transformada de FourierRESUMEN
In recent years, MXene has become one of the most intriguing two-dimensional layered (2Dl) materials extensively explored for various applications. In this study, a Ti3C2 MXene/rGo-Cu2O Nanocomposite (TGCNCs) was developed to eliminate Safranin-O effectively (SO) and Acid Fuchsin (AF) as cationic dyes from the aquatic environment. Multistep was involved in the preparation of the adsorbent system, including the Preparation of Ti3C2, after that, GO synthesis by the Humer method, followed by rGO production, then added CuSO4 to obtain a final Nanocomposite (NCs) called "TGCNCs". The structure of TGCNCs can be varied in several ways, including FTIR, SEM, TGA, Zeta, EDX, XRD, and BET, to affirm the efficacious preparation of TGCNCs. A novel adsorbent system was developed to remove SO and AF, both cationic dyes. Various adsorption conditions have been optimized through batch adsorption tests, including the pH of the solution (4-12), the effect of dosage (0.003-0.03 g), the impact of the contact time (5-30 min), and the effect of beginning dye concentration (25-250 mg/L). Accordingly, the TGCNCs exhibited excellent fitting for Freundlich isotherm mode, resulting in maximum AF and SO adsorption capacities of 909.09 and 769.23 mg g-1. This research on adsorption kinetics suggests that a pseudo-second-order (PSO) model would fit well with the experimental data (RSO2 = 0.998 and RAF2 = 0.990). It is evident from the thermodynamic parameters that adsorption is an endothermic process that is spontaneous and favorable. During the adsorption of SO and AF onto NCs, it is hypothesized that these molecules interact intramolecularly through stacking interactions, H-bond interactions, electrostatic interactions, and entrapment within the polymeric Poros structure nanocomposite. Regeneration studies lasting up to five cycles were the most effective for both organic dyes under study.
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Cobre , Nanocompuestos , Fenazinas , Termodinámica , Titanio , Contaminantes Químicos del Agua , Nanocompuestos/química , Fenazinas/química , Cinética , Adsorción , Titanio/química , Contaminantes Químicos del Agua/química , Cobre/química , Colorantes/química , Colorantes de Rosanilina/química , Grafito/química , BencenosulfonatosRESUMEN
This study evaluated the effectiveness of using nanocomposite (NCs) of xanthan gum grafted polyacrylamide crosslinked Borax - iron oxide nanoparticle (XG-g-pAAm-CL-Borax-IONP) to remove the amoxicillin antibiotic (AMX) from an aquatic environment. To confirm the structural characteristics of the prepared XG-g-pAAm-CL-Borax-IONP NCs, unique characterization methods (XRD, FT-IR, FE-SEM, EDX, BET, TGA, Zeta, and VSM) were used. Adsorption experimental setups were performed with the influence of solution pH (4-9), the effect of adsorbent dose (0.003-0.02 g), the effect of contact time (5-45 min), and the effect of initial AMX concentration (50-400 mg/L) to achieve the most efficient adsorption conditions. Based on the Freundlich isotherm model, XG-g-pAAm-CL-Borax-IONP NCs provided the maximum AMX adsorption capacity of 1183.639 mg/g. This research on adsorption kinetics also established that the pseudo-second-order model (R2 = 0.991) is outstanding compatibility with the experimental results. AMX adsorption on the NCs may occur through intermolecular hydrogen bonding, diffusion, and trapping into the polymer network. Even after five cycles, these NCs still displayed the best performance. Based on these results, XG-g-pAAm-CL-Borax-IONP NCs may be a viable material for the purification of AMX from contaminated water.
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Resinas Acrílicas , Amoxicilina , Boratos , Nanocompuestos , Polisacáridos Bacterianos , Contaminantes Químicos del Agua , Nanocompuestos/química , Contaminantes Químicos del Agua/química , Resinas Acrílicas/química , Amoxicilina/química , Polisacáridos Bacterianos/química , Adsorción , Boratos/química , Cinética , Antibacterianos/química , Purificación del Agua/métodos , Concentración de Iones de HidrógenoRESUMEN
The elimination of pesticides from polluted water is critical due to their harmful environmental and biological impacts. Recently, there has been interest in utilizing natural polymer-based adsorbents as an eco-friendly approach to eliminate or reduce the levels of water pollutants. In this work, we synthesized an antimicrobial and magnetic bionanocomposite consisting of carboxymethyl gond katira-grafted- poly(3-aminobenzoic acid) with iron oxide and zinc oxide NPs (CMT-g-P3ABA/ZnO/Fe3O4) through an in situ polymerization reaction and examined for its ability to adsorb the pesticide acetamiprid (AP). The bionanocomposite was characterized using several analytical techniques, including spectroscopy; XRD presented the crystalline structure of ZnO/Fe3O4 in the CMT-g-P3ABA amorphous matrix. The ZnO/Fe3O4 partially aggregated formation and exhibited polyhedral crystal shapes was depicted by electron microscopy images, vibrating sample magnetometer (45.06 emu/g), porosimetry (5.52 m2/g), and thermal (Chair yield of approximately 43.83 %) and elemental analyses. Under various conditions, including solution pH (4-9), adsorbent dosage (0.005-0.025 g), time of contact (10-30 min), and pesticide preliminary concentration (200-400 mg/L) in 10 mL of the solution. Based on this research, Adsorption data were perfectly fitted by the Freundlich isotherm model with RAP2= 0.99038, while the pseudo-second-order (PSO) model well-explained adsorption kinetics with RAP2= 0.99847. AP adsorption to the CMT-g-P3ABA/ZnO/Fe3O4 bionanocomposite was successful due to hydrophobic interactions, hydrogen bonding, and π-π stacking. Furthermore, adsorption-desorption experiments demonstrated that the bionanocomposite could be regenerated after three reuse cycles without considerable loss of pesticide removal performance. The bionanocomposite also exhibited promising antimicrobial activity in contradiction to test bacteria.
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Antibacterianos , Neonicotinoides , Contaminantes Químicos del Agua , Purificación del Agua , Contaminantes Químicos del Agua/química , Contaminantes Químicos del Agua/aislamiento & purificación , Adsorción , Purificación del Agua/métodos , Antibacterianos/química , Antibacterianos/farmacología , Neonicotinoides/química , Cinética , Nanocompuestos/química , Óxido de Zinc/químicaRESUMEN
As one of the most instrumental components in the architecture of advanced nanomedicines, plasmonic nanostructures (mainly gold and silver nanomaterials) have been paid a lot of attention. This type of nanomaterial can absorb light photons with a specific wavelength and generate heat or excited electrons through surface resonance, which is a unique physical property. In innovative biomaterials, a significant number of theranostic (therapeutic and diagnostic) materials are produced through the conjugation of thiol-containing ingredients with gold and silver nanoparticles (Au and Ag NPs). Hence, it is essential to investigate Au/Ag-S interfaces precisely and determine the exact bonding states in the active nanobiomaterials. This study intends to provide useful insights into the interactions between Au/Ag NPs and thiol groups that exist in the structure of biomaterials. In this regard, the modeling of Au/Ag-S bonding in active biological ingredients is precisely reviewed. Then, the physiological stability of Au/Ag-based plasmonic nanobioconjugates in real physiological environments (pharmacokinetics) is discussed. Recent experimental validation and achievements of plasmonic theranostics and radiolabelled nanomaterials based on Au/Ag-S conjugation are also profoundly reviewed. This study will also help researchers working on biosensors in which plasmonic devices deal with the thiol-containing biomaterials (e.g., antibodies) inside blood serum and living cells.
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Oro , Nanopartículas del Metal , Plata , Azufre , Oro/química , Plata/química , Nanopartículas del Metal/química , Azufre/química , Humanos , Nanomedicina Teranóstica , Materiales Biocompatibles/química , Animales , Compuestos de Sulfhidrilo/química , Nanoestructuras/químicaRESUMEN
An effective method for synthesizing acridinedione derivatives using a xanthan gum (XG), Thiacalix[4]arene (TC4A), and iron oxide nanoparticles (IONP) have been employed to construct a stable composition, which is named Thiacalix[4]arene-Xanthan Gum@ Iron Oxide Nanoparticles (TC4A-XG@IONP). The process used to fabricate this nanocatalyst includes the in-situ magnetization of XG, its amine modification by APTES to get NH2-XG@IONP hydrogel, the synthesis of TC4A, its functionalization with epichlorohydrine, and eventually its covalent attachment onto the NH2-XG@IONP hydrogel. The structure of the TC4A-XG@IONP was characterized by different analytical methods including Fourier-transform infrared spectroscopy, X-Ray diffraction analysis (XRD), Energy Dispersive X-Ray, Thermal Gravimetry analysis, Brunauer-Emmett-Teller, Field Emission Scanning Electron Microscope and Vibration Sample Magnetomete. With magnetic saturation of 9.10 emu g-1 and ~ 73% char yields, the TC4As-XG@IONP catalytic system demonstrated superparamagnetic property and high thermal stability. The magnetic properties of the TC4A-XG@IONP nanocatalyst system imparted by IONP enable it to be conveniently isolated from the reaction mixture by using an external magnet. In the XRD pattern of the TC4As-XG@IONP nanocatalyst, characteristic peaks were observed. This nanocatalyst is used as an eco-friendly, heterogeneous, and green magnetic catalyst in the synthesis of acridinedione derivatives through the one-pot pseudo-four component reaction of dimedone, various aromatic aldehydes, and ammonium acetate or aniline/substituted aniline. A combination of 10 mg of catalyst (TC4A-XG@IONP), 2 mmol of dimedone, and 1 mmol of aldehyde at 80 °C in a ethanol at 25 mL round bottom flask, the greatest output of acridinedione was 92% in 20 min.This can be attributed to using TC4A-XG@IONP catalyst with several merits as follows: high porosity (pore volume 0.038 cm3 g-1 and Pore size 9.309 nm), large surface area (17.306 m2 g-1), three dimensional structures, and many catalytic sites to active the reactants. Additionally, the presented catalyst could be reused at least four times (92-71%) with little activity loss, suggesting its excellent stability in this multicomponent reaction. Nanocatalysts based on natural biopolymers in combination with magnetic nanoparticles and macrocycles may open up new horizons for researchers in the field.
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The magnetic mesoporous hydrogel-based nanoadsornet was prepared by adding the ex situ prepared Fe3O4 magnetic nanoparticles (MNPs) and bentonite clay into the three-dimentional (3D) cross-linked pectin hydrogel substrate for the adsorption of organophosphorus chlorpyrifos (CPF) pesticide and crystal violet (CV) organic dye. Different analytical methods were utilized to confirm the structural features. Based on the obtained data, the zeta potential of the nanoadsorbent in deionized water with a pH of 7 was - 34.1 mV, and the surface area was measured to be 68.90 m2/g. The prepared hydrogel nanoadsorbent novelty owes to possessing a reactive functional group containing a heteroatom, a porous and cross-linked structure that aids convenient contaminants molecules diffusion and interactions between the nanoadsorbent and contaminants, viz., CPF and CV. The main driving forces in the adsorption by the Pectin hydrogel@Fe3O4-bentonite adsorbent are electrostatic and hydrogen-bond interactions, which resulted in a great adsorption capacity. To determine optimum adsorption conditions, effective factors on the adsorption capacity of the CV and CPF, including solution pH, adsorbent dosage, contact time, and initial concentration of pollutants, have been experimentally investigated. Thus, in optimum conditions, i.e., contact time (20 and 15 min), pH 7 and 8, adsorbent dosage (0.005 g), initial concentration (50 mg/L), T (298 K) for CPF and CV, respectively, the CPF and CV adsorption capacity were 833.333 mg/g and 909.091 mg/g. The prepared pectin hydrogel@Fe3O4-bentonite magnetic nanoadsorbent presented high porosity, enhanced surface area, and numerous reactive sites and was prepared using inexpensive and available materials. Moreover, the Freundlich isotherm has described the adsorption procedure, and the pseudo-second-order model explained the adsorption kinetics. The prepared novel nanoadsorbent was magnetically isolated and reused for three successive adsorption-desorption runs without a specific reduction in the adsorption efficiency. Therefore, the pectin hydrogel@Fe3O4-bentonite magnetic nanoadsorbent is a promising adsorption system for eliminating organophosphorus pesticides and organic dyes due to its remarkable adsorption capacity amounts.
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As an efficient class of hydrogel-based therapeutic drug delivery systems, deoxyribonucleic acid (DNA) hydrogels (particularly DNA nanogels) have attracted massive attention in the last five years. The main contributor to this is the programmability of these 3-dimensional (3D) scaffolds that creates fundamental effects, especially in treating cancer diseases. Like other active biological ingredients (ABIs), DNA hydrogels can be functionalized with other active agents that play a role in targeting drug delivery and modifying the half-life of the therapeutic cargoes in the body's internal environment. Considering the brilliant advantages of DNA hydrogels, in this survey, we intend to submit an informative collection of feasible methods for the design and preparation of DNA hydrogels and nanogels, and the responsivity of the immune system to these therapeutic cargoes. Moreover, the interactions of DNA hydrogels with cancer biomarkers are discussed in this account. Theragnostic DNA nanogels as an advanced species for both detection and therapeutic purposes are also briefly reviewed.
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Hidrogeles , Neoplasias , Humanos , Nanogeles , Sistemas de Liberación de Medicamentos/métodos , Neoplasias/diagnóstico , Neoplasias/tratamiento farmacológico , ADNRESUMEN
In this research study, a novel method, an in-situ growth approach, to incorporate metal-organic framework (MOF) into carrageenan-grafted- polyacrylamide-Fe3O4 substrate was introduced. Carrageenan-grafted-polyacrylamide-Fe3O4/MOF nanocomposite (kC-g-PAAm@Fe3O4-MOF-199) was fabricated utilizing three stages. In this way, the polyacrylamide (PAAm) was grafted onto the carrageenan (kC) backbone via free radical polymerization in the presence of methylene bisacrylamide (MBA) as cross-linker and Fe3O4 magnetic nanoparticles. Next, the kC-g-PAAm@Fe3O4 was modified by MOF-199 via an in-situ solvothermal approach. Several analyses such as Fourier transform infrared spectroscopy (FT-IR), X-Ray diffraction (XRD), field emission scanning electron microscopy (FESEM), energy-Dispersive X-ray Spectroscopy (EDX), thermogravimetric analysis (TGA), vibrating sample magnetometer (VSM), Brunauer-Emmett-Teller (BET) demonstrated the successful synthesis of kC-g-PAAm@Fe3O4-MOF-199 magnetic hydrogel nanocomposite. The XRD pattern of magnetic hydrogel nanocomposite illustrated characteristic peaks of Fe3O4, neat kC, and MOF-199 with enhanced crystallinity in comparison with kC-g-PAAm@Fe3O4. TGA showed it has a char yield of 24 wt% at 800 °C. VSM confirmed its superparamagnetic behavior (with Ms of 8.04 emu g-1), and the BET surface area of kC-g-PAAm@Fe3O4-MOF-199 was measured at 64.864 m2 g-1, which was higher than that of kC-g-PAAm@Fe3O4 due to the highly porous MOF-199 incorporation with a BET surface area of 905.12 m2 g-1). The adsorption effectiveness of kC-g-PAAm@Fe3O4-MOF-199 for eliminating cephalosporin and quinolones antibiotics, i.e., Cefixime (CFX) and Levofloxacin (LEV) from the aquatic area was considered. Several experimental setups were used to evaluate the efficacy of adsorption, such as solution pH, amount of adsorbent, contact duration, and initial concentration. The maximum adsorption capacity (Qmax) of the prepared magnetic hydrogel nanocomposite was found to be 2000 and 1666.667 mg-1 for LEV and CFX using employing 0.0025 g of adsorbent. The Freundlich isotherm model well described the experimental adsorption data with R2CFX = 0.9986, and R2LEV = 0.9939. And the adsorption kinetic data were successfully represented by the pseudo-second-order model with R2LEV = 0.9949 and R2CFX = 0.9906. Hydrogen bonding, π-π interaction, diffusion, and entrapment in the hydrogel network all contributed to the successful adsorption of both antibiotics onto the kC-g-PAAm@Fe3O4-MOF-199 adsorbent. Other notable physicochemical properties include the three-dimensional structure and availability of the reactive adsorption sites. Moreover, the adsorption/desorption efficacy of magnetic hydrogel nanocomposites was not significantly diminished after four cycles of recovery.
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Estructuras Metalorgánicas , Contaminantes Químicos del Agua , Antibacterianos , Cefixima , Levofloxacino , Adsorción , Carragenina , Espectroscopía Infrarroja por Transformada de Fourier , Agua , Hidrogeles , Contaminantes Químicos del Agua/química , CinéticaRESUMEN
Pyrazolopyridines are common scaffolds in various bioactive compounds, which have several therapeutic effects and unique pharmacological properties. In this study, we fabricated a novel environmentally friendly silica-based nanocomposite as a multifunctional catalytic system for the synthesis of pyrazolopyridine derivatives. This novel heterogeneous nanocomposite named Alg@SBA-15/Fe3O4 (Alg stands for alginic acid), was prepared in several steps. In this regard, SBA-15 was synthesized by the hydrothermal method. Next, it was magnetized by Fe3O4 nanoparticles via an in situ co-precipitation process. Then, SBA-15/Fe3O4 particles were functionalized with 3-minopropyltriethoxysilane (APTES). Afterward, Alg@SBA-15/Fe3O4 was obtained by a nucleophilic substitution reaction between SBA-15/Fe3O4-NH2 and an as-synthesized methyl-esterified alginic. Different analyses such as Fourier-transform infrared (FTIR), energy-dispersive X-ray (EDX) spectroscopy, field-emission scanning-electron microscopy (FESEM), vibrating-sample magnetometer (VSM), X-ray diffraction (XRD), thermogravimetric analysis (TGA), and BET (Brunauer-Emmett-Teller) have been used to confirm the structure of the fabricated catalyst. The magnetic properties of the Alg@SBA-15/Fe3O4 catalytic system imparted by Fe3O4 MNPs enable it to be conveniently isolated from the reaction mixture by using an external magnet. According to the obtained results, the prepared nanocatalyst has high thermal stability and it lost approximately 26% of its weight up to 800 °C. Interestingly, a small amount of prepared nanocatalyst (0.02 g) has shown excellent catalytic performance in the synthesis of pyrazolopyridine derivatives (90-97%) in a short reaction time (20-30 min) at room temperature which can be attributed to its porous structure and large surface area, and the presence of many acidic and basic functional groups. In general, it can be argued that the Alg@SBA-15/Fe3O4 nanocomposite deserves more attention due to its non-toxicity, ease of preparation, good recyclability, and its high catalytic efficiency.
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Background: Migraine, one of the most common headaches in children, has a significant impact on children and their family's quality of life (QoL). There are two approaches for controlling migraine headaches preventative and controlling acute attacks. Several drugs have been used for this purpose, and tricyclic antidepressants were at the top. Amitriptyline has shown not only a desirable effect on controlling the headaches but also some adverse side effects. Recently, finding effective drugs with fewer side effects, become more critical. Among them, nutraceuticals were one of the promising ones. Materials and Methods: In this randomized clinical trial on 72 patients aged 5-15 years old with diagnosis of migraine based on the International Headache Society criteria, we compare the effectiveness of coenzyme Qten on frequency, duration, and severity of childhood migraine. For comparing the QoL, we used the International PedMIDAS questionnaire. Results: Coenzyme Qten showed good therapeutic effects in children, especially in long-term use; however, amitriptyline showed more rapid response. After 3 months of treatment, clinical outcomes in the two groups did not significantly differ from each other. Similarly, Children's QoL increased in the same way. There are more reported side effects in children using amitriptyline compared to coenzyme Qten. Conclusions: According to results, Co-enzyme Q10, with fewer side effects and comparable therapeutic effects, especially in the long term, could be a good drug for prophylactic treatment of migraine headaches.
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OBJECTIVE: Human genomics established that pathogenic variation in diverse genes can underlie a single disorder. For example, hereditary spastic paraplegia is associated with >80 genes, with frequently only few affected individuals described for each gene. Herein, we characterize a large cohort of individuals with biallelic variation in ENTPD1, a gene previously linked to spastic paraplegia 64 (Mendelian Inheritance in Man # 615683). METHODS: Individuals with biallelic ENTPD1 variants were recruited worldwide. Deep phenotyping and molecular characterization were performed. RESULTS: A total of 27 individuals from 17 unrelated families were studied; additional phenotypic information was collected from published cases. Twelve novel pathogenic ENTPD1 variants are described (NM 001776.6): c.398_399delinsAA; p.(Gly133Glu), c.540del; p.(Thr181Leufs*18), c.640del; p.(Gly216Glufs*75), c.185 T > G; p.(Leu62*), c.1531 T > C; p.(*511Glnext*100), c.967C > T; p.(Gln323*), c.414-2_414-1del, and c.146 A > G; p.(Tyr49Cys) including 4 recurrent variants c.1109 T > A; p.(Leu370*), c.574-6_574-3del, c.770_771del; p.(Gly257Glufs*18), and c.1041del; p.(Ile348Phefs*19). Shared disease traits include childhood onset, progressive spastic paraplegia, intellectual disability (ID), dysarthria, and white matter abnormalities. In vitro assays demonstrate that ENTPD1 expression and function are impaired and that c.574-6_574-3del causes exon skipping. Global metabolomics demonstrate ENTPD1 deficiency leads to impaired nucleotide, lipid, and energy metabolism. INTERPRETATION: The ENTPD1 locus trait consists of childhood disease onset, ID, progressive spastic paraparesis, dysarthria, dysmorphisms, and white matter abnormalities, with some individuals showing neurocognitive regression. Investigation of an allelic series of ENTPD1 (1) expands previously described features of ENTPD1-related neurological disease, (2) highlights the importance of genotype-driven deep phenotyping, (3) documents the need for global collaborative efforts to characterize rare autosomal recessive disease traits, and (4) provides insights into disease trait neurobiology. ANN NEUROL 2022;92:304-321.
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Apirasa , Discapacidad Intelectual , Paraplejía Espástica Hereditaria , Sustancia Blanca , Apirasa/genética , Disartria , Humanos , Discapacidad Intelectual/genética , Mutación/genética , Paraplejía/genética , Linaje , Fenotipo , Paraplejía Espástica Hereditaria/genética , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patologíaRESUMEN
BACKGROUND: We aimed to compare the effectiveness of Levetiracetam and Piracetam on the severity and frequency of spells in children with severe breath-holding spells (BHS), i.e. bening, paroxysmal, and nonepileptic events that are common in early childhood. MATERIALS AND METHODS: This study is a randomized controlled clinical trial in 71 children from 6 months to 6 years of age with BHS. They were randomly assigned to the two study groups (Levetiracetam and Piracetam group). The frequency and severity of BHS and the response to treatment were recorded on monthly visits during our 3 months follow-up. RESULTS: There was a significant decline in the average number of frequency of spells before and after 3 months of treatment in each group in this study. Levetiracetam had significant effects on the average incidence of the loss of consciousness and seizure-like movements in our study, while Piracetam had no significant effect on the loss of consciousness. Our result showed better response in the Levetiracetam group (88.9% partial or complete response after treatment) compared with the Piracetam group (77.1% partial or complete response after treatment); however, it was not significant. It seems that Levetiracetam had better effect than Piracetam in some aspects in the treatment of BHS. CONCLUSIONS: Both Piracetam and Levetiracetam are safe and had significant effects on the frequency of BHS in our study, however, levetiracetam showed superior effects on the severity of BHS.