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OBJECTIVE: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial dysmorphisms. Through description of a large cohort, which doubles the number of reported patients, we further delineate the spectrum of YWHAG-related epilepsy. METHODS: We included in this study 24 patients, 21 new and three previously described, with pathogenic/likely pathogenic variants in YWHAG. We extended the analysis of clinical, electroencephalographic, brain magnetic resonance imaging, and molecular genetic information to 24 previously published patients. RESULTS: The phenotypic spectrum of YWHAG-related disorders ranges from mild developmental delay to developmental and epileptic encephalopathy (DEE). Epilepsy onset is in the first 2 years of life. Seizure freedom can be achieved in half of the patients (13/24, 54%). Intellectual disability (23/24, 96%), behavioral disorders (18/24, 75%), neurological signs (13/24, 54%), and dysmorphisms (6/24, 25%) are common. A genotype-phenotype correlation emerged, as DEE is more represented in patients with missense variants located in the ligand-binding domain than in those with truncating or missense variants in other domains (90% vs. 19%, p < .001). SIGNIFICANCE: This study suggests that pathogenic YWHAG variants cause a wide range of clinical presentations with variable severity, ranging from mild developmental delay to DEE. In this allelic series, a genotype-phenotype correlation begins to emerge, potentially providing prognostic information for clinical management and genetic counseling.
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Epilepsia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Adulto Jovem , Estudos de Coortes , Deficiências do Desenvolvimento/genética , Eletroencefalografia , Epilepsia/diagnóstico por imagem , Epilepsia/genética , Epilepsia/patologia , Estudos de Associação Genética , Deficiência Intelectual/genética , Imageamento por Ressonância Magnética , FenótipoRESUMO
Porphyrins are prime candidates for a host of molecular electronics applications. Understanding the electronic structure and the role of anchoring groups on porphyrins is a prerequisite for researchers to comprehend their role in molecular devices at the molecular junction interface. Here, we use the density functional theory approach to investigate the influence of anchoring groups on Ni and Zn diphenylporphyrin molecules. The changes in geometry, electronic structure, and electronic descriptors were evaluated. There are minimal changes observed in geometry when changing the metal from Ni to Zn and the anchoring group. However, we find that the distribution of electron density changes when changing the anchoring group in the highest occupied and lowest unoccupied molecular orbitals. This has a direct effect on electronic descriptors such as global hardness, softness, and electrophilicity. Additionally, the optical spectra of both Ni and Zn diphenylporphyrin molecules exhibit either blue or red shifts when changing the anchoring group. These results indicate the importance of the anchoring group on the electronic structure and optical properties of porphyrin molecules.
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The present study aimed to establish human earwax as a potential source of DNA evidence that could be effectively used in human identification. Sixty earwax samples were obtained from 15 healthy male and female Saudi volunteers living in Riyadh, Saudi Arabia. Four consecutive earwax swab samples were obtained from each volunteer and stored for 1, 15, 30 and 60 days. Earwax samples were stored at room temperature (20-22 °C). Reference oral swab was also taken from each volunteer. DNA was extracted by QIAamp DNA Mini kit and quantified by real-time polymerase chain reaction (RT-PCR) on 7500 Thermal Cycler. Autosomal STR loci were amplified using AmpFLSTR™ Identifiler™ Plus PCR Amplification Kit (Thermo Fisher Scientific, Carlsbad, CA, USA). Amplified fragments were size separated and analyzed on a 3500 Genetic Analyzer. Complete autosomal STR profiles were obtained from the earwax swabs of all the volunteers stored up to 30 days after the collection. Some STR profiles were partially obtained 60 days after the earwax collection. Allelic drop-out, allelic drop-in, and stutters were seen in earwax samples analyzed 60 days after the collection. The results have shown that human earwax can be a potential source of DNA evidence for human identification up to 30 days after the earwax collection. It is recommended to quickly analyze earwax samples or store them at room temperature or at -10 °C after their recovery from the crime scene.
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Human disorders of the enteric nervous system (ENS), e.g., Hirschsprung's disease, are rarely associated with major central nervous system involvement. We describe two families each segregating a different homozygous truncating variant in KIF26A with a unique constellation of severe megacolon that resembles Hirschsprung's disease but lacks aganglionosis as well as brain malformations that range from severe to mild. The intestinal phenotype bears a striking resemblance to that observed in Kif26a-/- mice where KIF26A deficiency was found to cause abnormal GDNF-Ret signaling resulting in failure to establish normal neuronal networks despite myenteric neuronal hyperplasia. Very recently, a range of brain developmental phenotypes were described in patients and mice with KIF26A deficiency and were found to result from abnormal radial migration and increased apoptosis. Our report, therefore, reveals a recognizable autosomal-recessive human KIF26A deficiency phenotype characterized by severe ENS dysfunction and a range of brain malformations.
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Doença de Hirschsprung , Hidrocefalia , Megacolo , Animais , Humanos , Camundongos , Doença de Hirschsprung/genética , Neurônios , FenótipoRESUMO
Hydrogen production, catalytic organic synthesis, carbon dioxide reduction, environmental purification, and other major fields have all adopted photocatalytic technologies due to their eco-friendliness, ease of use, and reliance on sunlight as the driving force. Photocatalyst is the key component of photocatalytic technology. Thus, it is of utmost importance to produce highly efficient, stable, visible-light-responsive photocatalysts. CIS stands out among other visible-light-response photocatalysts for its advantageous combination of easy synthesis, non-toxicity, high stability, and suitable band structure. In this study, we took a brief glance at the synthesis techniques for CIS after providing a quick introduction to the fundamental semiconductor features, including the crystal and band structures of CIS. Then, we discussed the ways doping, heterojunction creation, p-n heterojunction, type-II heterojunction, and Z-scheme may be used to modify CIS's performance. Subsequently, the applications of CIS towards pollutant degradation, CO2 reduction, water splitting, and other toxic pollutants remediation are reviewed in detail. Finally, several remaining problems with CIS-based photocatalysts are highlighted, along with future potential for constructing more superior photocatalysts.
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Poluentes Ambientais , Recuperação e Remediação Ambiental , Catálise , Luz , TecnologiaRESUMO
Lipases are extensively utilized industrial biocatalysts that play an important role in various industrial and biotechnological applications. Herein, polyacrylonitrile (PAN) was treated with hexamethylene diamine (HMDA) and activated by glutaraldehyde, then utilized as a carrier support for Candida rugosa lipase. In this regard, the morphological structure of modified PAN before and after the immobilization process was evaluated using FTIR and SEM analyses. The immobilized lipase exhibited the highest activity at pH 8.0, with an immobilization yield of 81% and an activity of 91%. The optimal pH and temperature for free lipase were 7.5 and 40 °C, while the immobilized lipase exhibited its optimal activity at a pH of 8.0 and a temperature of 50 °C. After recycling 10 times, the immobilized lipase maintained 76% of its activity and, after 15 reuses, it preserved 61% of its activity. The lipase stability was significantly improved after immobilization, as it maintained 76% of its initial activity after 60 days of storage. The calculated Km values were 4.07 and 6.16 mM for free and immobilized lipase, and the Vmax values were 74 and 77 µmol/mL/min, respectively. These results demonstrated that synthetically modified PAN is appropriate for immobilizing enzymes and has the potential for commercial applications.
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Enzimas Imobilizadas , Lipase , Lipase/metabolismo , Enzimas Imobilizadas/química , Estabilidade Enzimática , Candida , Temperatura , Concentração de Íons de HidrogênioRESUMO
Herein, interactions between cetylpyridinium chloride (CPC) and ceftriaxone sodium (CTS) were investigated applying conductivity technique. Impacts of the nature of additives (e.g. electrolytes or hydrotrope (HDT)), change of temperatures (from 298.15 to 323.15 K), and concentration variation of CTS/additives were assessed on the micellization of CPC + CTS mixture. The conductometric analysis of critical micelle concentration (CMC) with respect to the concentration reveals that the CMC values were increased with the increase in CTS concentration. In terms of using different mediums, CMC did not differ much with the increase in electrolyte salt (NaCl, Na2SO4) concentration, but increased significantly with the rise of HDT (NaBenz) amount. In the presence of electrolyte, CMC showed a gentle increment with temperature, while the HDT showed the opposite trend. Obtained result was further correlated with conventional thermodynamic relationship, where standard Gibb's free energy change (ΔGmo), change of enthalpy (ΔHmo), and change of entropy (ΔSmo) were utilized to investigate. The ΔGmo values were negative for all the mixed systems studied indicating that the micellization process was spontaneous. Finally, the stability of micellization was studied by estimating the intrinsic enthalpy gain (ΔHmo,∗) and compensation temperature (Tc). Here, CPC + CTS mixed system showed more stability in Na2SO4 medium than the NaCl, while in NaBenz exhibited the lowest stability.
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We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we propose to be recessive, disease-related candidates. We report additional mutational events in 64 previously reported candidates (40 recessive), and these events support their candidacy. We report recessive forms of genes that were previously associated only with dominant disorders and that have phenotypes ranging from consistent with to conspicuously distinct from the known dominant phenotypes. We also report homozygous loss-of-function events that can inform the genetics of complex diseases. We were also able to deduce the likely causal variant in most couples who presented after the loss of one or more children, but we lack samples from those children. Although a similar pattern of mostly recessive causes was observed in the prenatal setting, the higher proportion of loss-of-function events in these cases was notable. The allelic series presented by the wealth of recessive variants greatly expanded the phenotypic expression of the respective genes. We also make important observations about dominant disorders; these observations include the pattern of de novo variants, the identification of 74 candidate dominant, disease-related genes, and the potential confirmation of 21 previously reported candidates. Finally, we describe the influence of a predominantly autosomal-recessive landscape on the clinical utility of rapid sequencing (Flash Exome). Our cohort's genotypic and phenotypic data represent a unique resource that can contribute to improved variant interpretation through data sharing.
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Consanguinidade , Sequenciamento do Exoma/métodos , Genes Recessivos , Doenças Genéticas Ligadas ao Cromossomo X/epidemiologia , Doenças Genéticas Ligadas ao Cromossomo X/genética , Predisposição Genética para Doença , Mutação , Criança , Estudos de Coortes , Feminino , Homozigoto , Humanos , Masculino , Fenótipo , Gravidez , Arábia Saudita/epidemiologiaRESUMO
Congenital myopathies include a wide range of genetically determined disorders characterized by muscle weakness that usually manifest shortly after birth. To date, two different homozygous loss-of-function variants in the HACD1 gene have been reported to cause congenital myopathy. We identified three patients manifesting with neonatal-onset generalized muscle weakness and motor delay that carried three novel homozygous likely pathogenic HACD1 variants. The two of these changes (c.373_375+2delGAGGT and c.785-1G>T) were predicted to introduce splice site alterations, while one is a nonsense change (c.458G>A). The clinical presentation of our and the previously reported patients was comparable, including the temporally progressive improvement that seems to be characteristic of HACD1-related myopathy. Our findings conclusively confirm the implication of HACD1 in the pathogenesis of congenital myopathies, corroborate the main phenotypic features, and further define the genotypic spectrum of this genetic form of myopathy. Importantly, the genetic diagnosis of HACD1-related myopathy bears impactful prognostic value.
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Mutação com Perda de Função , Doenças Musculares/congênito , Proteínas Tirosina Fosfatases/genética , Adolescente , Idade de Início , Alelos , Causalidade , Criança , Códon sem Sentido , Consanguinidade , Éxons/genética , Feminino , Estudos de Associação Genética , Humanos , Recém-Nascido , Masculino , Doenças Musculares/genética , Prognóstico , Proteínas Tirosina Fosfatases/deficiência , Proteínas Tirosina Fosfatases/fisiologia , Processamento Pós-Transcricional do RNA , Sítios de Splice de RNARESUMO
BACKGROUND: Polycystic kidney disease (PKD) is one of the most common genetic renal diseases and may be inherited in an autosomal dominant or autosomal recessive pattern. Pathogenic variants in two major genes, PKD1 and PKD2, and two rarer genes, GANAB and DNAJB11, cause autosomal dominant PKD (ADPKD). Early onset and severe PKD can occur with PKD1 and PKD2 pathogenic variants and such phenotypes may be modified by second alleles inherited in trans. Homozygous or compound heterozygous hypomorphic PKD1 variants may also cause a moderate to severe disease PKD phenotype. METHODS: Targeted renal gene panel followed by Sanger sequencing of PKD1 gene were employed to investigate molecular causes in early onset PKD patients. RESULTS: In this study, we report four consanguineous Saudi Arabian families with early onset PKD which were associated with biallelic variants in PKD1 gene. CONCLUSIONS: Our findings confirm that PKD1 alleles may combine to produce severe paediatric onset PKD mimicking the more severe autosomal recessive ciliopathy syndromes associated with PKD. Screening of parents of such children may also reveal subclinical PKD phenotypes.
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Rim Policístico Autossômico Dominante/genética , Canais de Cátion TRPP/genética , Idade de Início , Criança , Simulação por Computador , Consanguinidade , Análise Mutacional de DNA , Feminino , Homozigoto , Humanos , Rim/diagnóstico por imagem , Masculino , Mutação , Rim Policístico Autossômico Dominante/diagnóstico , Arábia Saudita , UltrassonografiaRESUMO
Temtamy syndrome is a syndromic form of intellectual disability characterized by ocular involvement, epilepsy and dysgenesis of the corpus callosum. After we initially mapped the disease to C12orf57, we noted a high carrier frequency of an ancient startloss founder mutation [c.1A>G; p.M1?] in our population, and variable phenotypic expressivity in newly identified cases. This study aims to combine 33 previously published patients with 23 who are described here for the first time to further delineate the phenotype of this syndrome. In addition to the known p.M1? founder, we describe four novel homozygous variants, thus increasing the number of Temtamy syndrome-related C12orf57 variants to seven, all but one predicted to be loss of function. While all patients presented with intellectual disability/developmental delay, the frequency of other phenotypic features was variable: 73.2% (41/56) had epilepsy, 63% (34/54) had corpus callosal abnormalities, 14.5% (8/55) had coloboma, and 16.4% (9/55) had microphthalmia. Our analysis also revealed a high frequency of less recognized features such as congenital heart disease (51.4%), and brain white matter abnormalities (38%, 19/50). We conclude that C12orf57 variants should be considered in the etiology of developmental delay/intellectual disability, even when typical syndromic features are lacking, especially in those who trace their ancestry to Saudi Arabia where a founder C12orf57 mutation is among the most common recessive causes of intellectual disability.
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Agenesia do Corpo Caloso/diagnóstico , Coloboma/diagnóstico , Anormalidades Craniofaciais/diagnóstico , Anormalidades do Olho/diagnóstico , Agenesia do Corpo Caloso/epidemiologia , Agenesia do Corpo Caloso/genética , Alelos , Coloboma/epidemiologia , Coloboma/genética , Anormalidades Craniofaciais/epidemiologia , Anormalidades Craniofaciais/genética , Anormalidades do Olho/genética , Fácies , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Imageamento por Ressonância Magnética , Mutação , Fenótipo , PrevalênciaRESUMO
In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period of March 2016-December 2016 comprising 972 solo (index only), 14 duo (parents or affected siblings only), and 33 trio (index and parents). Multigene panels accounted for 672 tests, while whole exome sequencing (WES) represented the remaining 347 tests. Pathogenic or likely pathogenic variants that explain the clinical indications were identified in 34% (27% in panels and 43% in exomes), spanning 279 genes and including 165 novel variants. While recessive mutations dominated the landscape of solved cases (71% of mutations, and 97% of which are homozygous), a substantial minority (27%) were solved on the basis of dominant mutations. The highly consanguineous nature of the study population also facilitated homozygosity for many private mutations (only 32.5% of the recessive mutations are founder), as well as the first instances of recessive inheritance of previously assumed strictly dominant disorders (involving ITPR1, VAMP1, MCTP2, and TBP). Surprisingly, however, dual molecular diagnosis was only observed in 1.5% of cases. Finally, we have encountered candidate variants in 75 genes (ABHD6, ACY3, ADGRB2, ADGRG7, AGTPBP1, AHNAK2, AKAP6, ASB3, ATXN1L, C17orf62, CABP1, CCDC186, CCP110, CLSTN2, CNTN3, CNTN5, CTNNA2, CWC22, DMAP1, DMKN, DMXL1, DSCAM, DVL2, ECI1, EP400, EPB41L5, FBXL22, GAP43, GEMIN7, GIT1, GRIK4, GRSF1, GTRP1, HID1, IFNL1, KCNC4, LRRC52, MAP7D3, MCTP2, MED26, MPP7, MRPS35, MTDH, MTMR9, NECAP2, NPAT, NRAP, PAX7, PCNX, PLCH2, PLEKHF1, PTPN12, QKI, RILPL2, RIMKLA, RIMS2, RNF213, ROBO1, SEC16A, SIAH1, SIRT2, SLAIN2, SLC22A20, SMDT1, SRRT, SSTR1, ST20, SYT9, TSPAN6, UBR4, VAMP4, VPS36, WDR59, WDYHV1, and WHSC1) not previously linked to human phenotypes and these are presented to accelerate post-publication matchmaking. Two of these genes were independently mutated in more than one family with similar phenotypes, which substantiates their link to human disease (AKAP6 in intellectual disability and UBR4 in early dementia). If the novel candidate disease genes in this cohort are independently confirmed, the yield of WES will have increased to 83%, which suggests that most "negative" clinical exome tests are unsolved due to interpretation rather than technical limitations.
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Exoma , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/epidemiologia , Genoma Humano , Consanguinidade , Feminino , Testes Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Homozigoto , Humanos , Masculino , Anotação de Sequência Molecular , Morbidade , Mutação , Fenótipo , Reprodutibilidade dos Testes , Arábia Saudita/epidemiologia , Análise de Sequência de DNARESUMO
BACKGROUND: The optimal amount and timing of protein intake in critically ill patients are unknown. REPLENISH (Replacing Protein via Enteral Nutrition in a Stepwise Approach in Critically Ill Patients) trial evaluates whether supplemental enteral protein added to standard enteral nutrition to achieve a high amount of enteral protein given from ICU day five until ICU discharge or ICU day 90 as compared to no supplemental enteral protein to achieve a moderate amount of enteral protein would reduce all-cause 90-day mortality in adult critically ill mechanically ventilated patients. METHODS: In this multicenter randomized trial, critically ill patients will be randomized to receive supplemental enteral protein (1.2 g/kg/day) added to standard enteral nutrition to achieve a high amount of enteral protein (range of 2-2.4 g/kg/day) or no supplemental enteral protein to achieve a moderate amount of enteral protein (0.8-1.2 g/kg/day). The primary outcome is 90-day all-cause mortality; other outcomes include functional and health-related quality-of-life assessments at 90 days. The study sample size of 2502 patients will have 80% power to detect a 5% absolute risk reduction in 90-day mortality from 30 to 25%. Consistent with international guidelines, this statistical analysis plan specifies the methods for evaluating primary and secondary outcomes and subgroups. Applying this statistical analysis plan to the REPLENISH trial will facilitate unbiased analyses of clinical data. CONCLUSION: Ethics approval was obtained from the institutional review board, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia (RC19/414/R). Approvals were also obtained from the institutional review boards of each participating institution. Our findings will be disseminated in an international peer-reviewed journal and presented at relevant conferences and meetings. TRIAL REGISTRATION: ClinicalTrials.gov, NCT04475666 . Registered on July 17, 2020.
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Estado Terminal , Proteínas Alimentares , Nutrição Enteral , Estudos Multicêntricos como Assunto , Ensaios Clínicos Controlados Aleatórios como Assunto , Humanos , Nutrição Enteral/métodos , Proteínas Alimentares/administração & dosagem , Interpretação Estatística de Dados , Unidades de Terapia Intensiva , Qualidade de Vida , Resultado do Tratamento , Respiração Artificial , Fatores de TempoRESUMO
In this work, palladium nanoparticles, supported by polyaminals (Pd@PAN-NA), were synthesized via a reverse double solvent approach and used as a nano catalyst. The thermogravimetric and the elemental analysis revealed that the catalyst had good dispersity and improved thermal stability. The catalytic activity of the prepared Pd@PAN-NA catalyst was studied for a methylene blue chemical reaction in the presence of NaBH4 as a reducing agent. The effect of the catalyst dose, pH, and dye initial concentration were examined to optimize the chemical reduction conditions. The prepared catalyst Pd@PAN-NA removed 99.8% of methylene blue organic dye, indicating its potential effect for treating waste and contaminated water.
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One of the most common inborn errors in fatty acid ß oxidation (FAO) is a very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency. It is autosomal recessive. The enzyme used in the first phase of FAO is VLCAD. The enzyme is responsible for ß oxidation spiral pathway's initial step, the dehydrogenation process of long-chain fatty acyl-CoA. The phenotypes include hypoglycemia, hepatomegaly, cardiomyopathy, and occasionally abrupt mortality. Most VLCAD deficiencies in newborns are now detected during the neonatal period due to the development of newborn screening programs. Mitochondrial DNA depletion syndromes (MTDPS) are one of the rarest metabolic disorders. It is an autosomal recessive disease caused by defects in genes necessary for the maintenance of mitochondrial DNA (mtDNA). One of these FBXL4 (F-box and leucine-rich repeat protein 4) variants causes encephalomyopathic mtDNA depletion syndrome 13 (MTDPS13), which presents as a failure to thrive, severe global developmental delay, hypotonia, early infantile onset of encephalopathy, and lactic acidosis. We report here the case of a Saudi infant born to consanguineous parents who presented to us with severe failure to thrive, profound neurodevelopmental delays, and facial dysmorphic features. Whole-exome sequencing (WES) showed the infants had MTDPS13. The FBXL4 variant c.1698A > G p. (Ile566Met) has previously been described as a disease that causes developmental delay and lactic acidosis, and another variant has also been detected in the patient. The ACADVL variant c.134C > A p. (Ser45*) has previously been described to cause VLCAD deficiency. A comprehensive literature review showed our patient to be the first case of MTDPS13 and VLCAD reported to date worldwide.
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An innovative approach for immobilizing α-amylase was used in this investigation. The acrylic fabric was first treated with hexamethylene diamine (HMDA) and then coated with copper ions that were later reduced to copper nanoparticles (CuNPs). The corresponding materials obtained, Cu(II)@HMDA-TA and CuNPs@HMDA-TA, were employed as carriers for α-amylase, respectively. The structural and morphological characteristics of the produced support matrices before and after immobilization were assessed using various techniques, including FTIR, SEM, EDX, TG/DTG, DSC, and zeta potential. The immobilized α-amylase exhibited the highest level of activity at pH 7.0, with immobilization yields observed for CuNPs@HMDA-TA (81.7 %) (60 unit/g support) followed by Cu(II)@HMDA-TA (71.7 %) (49 unit/g support) and 75 % and 61 % of activity yields, and 91.7 % and 85 % of immobilization efficiency, respectively. Meanwhile, biochemical characterizations of the activity of the soluble and immobilized enzymes were carried out and compared. Optimal temperature, pH, kinetics, storage stability, and reusability parameters were optimized for immobilized enzyme activity. The optimal pH and temperature were recorded as 6.0 and 50 °C for soluble α-amylase while the two forms of immobilized α-amylase exhibit a broad pH of 6.0-7.0 and optimal temperature at 60 °C. After recycling 15 times, the immobilized α-amylase on CuNPs@HMDA-TA and Cu(II)@HMDA-TA preserved 63 % and 52 % of their activities, respectively. The two forms of immobilized α-amylase displayed high stability when stored for 6 weeks and preserved 85 % and 76 % of their activities, respectively. Km values were calculated as 1.22, 1.39, and 1.84 mg/mL for soluble, immobilized enzymes on CuNPs@HMDA-TA, and Cu(II)@HMDA-TA, and Vmax values were calculated as 36.25, 29.68, and 21.57 µmol/mL/min, respectively. The total phenolic contents of maize kernels improved 1.4 ± 0.01 fold after treatment by two immobilized α-amylases.
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Enzimas Imobilizadas , Nanoestruturas , Enzimas Imobilizadas/química , Estabilidade Enzimática , alfa-Amilases/química , Cobre , Concentração de Íons de Hidrogênio , Temperatura , CinéticaRESUMO
The evolution of green technology for the simple and ecological formation of silver nanoparticles (AgNPs) inspired the present work for simple and efficient detection of reducing sugars (RS) in foods. The proposed method relies on gelatin as the capping and stabilizing agent and the analyte (RS) as the reducing agent. This work may attract significant attention, especially in the industry, for testing the sugar content using gelatin-capped silver nanoparticles as it not only detects the sugar in food, but also determines the content (%), which could be an alternative technique to the conventionally used DNS colorimetric method. For this purpose, a certain amount of maltose was mixed with a gelatin-silver nitrate. Different conditions that may affect the color changes at 434 nm owing to the in situ formed AgNPs, such as gelatin-silver nitrate ratio, PH, time, and temperature, have been investigated. The 1:3 mg/mg ratio of gelatin-silver nitrate dissolved in 10 mL distilled water was most effective in color formation. The development of AgNPs color increases within 8-10 min at PH 8.5 as the selected optimum value and at the optimum temperature of 90 °C for the evolution of the gelatin-silver reagent's redox reaction. The gelatin-silver reagent showed a fast response (less than 10 min) with a detection limit for maltose at 46.67 µM. In addition, the selectivity of maltose was checked in the presence of starch and after its hydrolysis with α-amylase. Compared with the conventionally used dinitrosalicylic acid (DNS) colorimetric method, the proposed method could be applied to commercial fresh apple juice, watermelon, and honey to prove its viability for detecting RS in fruits; the total reducing sugar content was 287, 165, and 751 mg/g, respectively.
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In this study graphitic carbon nitride (g-C3N4 or GCN) and phosphorus doped graphitic carbon nitride (p-g-C3N4 or PCN) were prepared using facile thermal polycondensation method. Phosphorus doping was employed to preserve the non-metallic nature of GCN. The AgCl/PCN/Fe3O4 heterojunction was synthesized using a simple in-situ route. The photocatalytic performance of the GCN, PCN, Fe3O4 and AgCl/PCN/Fe3O4 was tested towards 2, 4-dimethylphenol (DMP) pollutant. The work explored improvement in physiochemical properties and reduction of band gap of GCN after P doping (through Tauc's plot method). Coupling with AgCl (silver halide) also enhanced photoinduced charge carriers' separation and migration ability due to apt band alignment among both AgCl and PCN photocatalysts which resulted in formation of direct Z-scheme charge transfer mechanism. Similarly, the incorporation of ferrimagnetic material i.e. Fe3O4 enhanced the generation of hydroxyl (â¢OH) radicals via photo-Fenton process and facilitated photocatalysts easy separation from the aqueous medium. Through PL and EIS analysis the enhanced charge separation and migration ability in AgCl/PCN/Fe3O4 nanocomposite was validated. The attained DMP degradation efficiency of photo-Fenton assisted AgCl/PCN/Fe3O4/H2O2 Z-scheme nanocomposite was much higher i.e. 99% compared to other photocatalysts within 60 min of visible light irradiation following pseudo-first-order kinetics. Electron paramagnetic resonance (EPR) and scavenging tests confirmed the substantial role of â¢OH and â¢O2- radicals in the photo-Fenton reaction. Furthermore, liquid chromatography-mass spectrometry (LC-MS) analysis detected the generated oxidative products and mineralization pathways associated with DMP degradation. The proposed direct Z-scheme charge transfer route presented efficient charge separation and migration ability in AgCl/PCN/Fe3O4 nanocomposite. Recycle ability of the fabricated AgCl/PCN/Fe3O4 photocatalyst was tested up to 5 cycles with 90% removal efficacy, confirming the excellent reusability and stability of AgCl/PCN/Fe3O4 photocatalyst.
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Grafite , Peróxido de Hidrogênio , Grafite/química , Compostos de Nitrogênio/química , ÁguaRESUMO
Aim: The aim of this case report is to describe the dentofacial manifestations of achondroplasia and highlight concerns associated with dental management of pediatric patients with achondroplasia. Background: Achondroplasia is the most common form of skeletal dysplasia (dwarfism) with clinical manifestations including disproportionate limb shortening and stunted stature. The craniofacial characteristics of achondroplasia are relative macrocephaly, depression of the nasal bridge, and maxillary hypoplasia. Special precautions are necessary during dental management of pediatric patients with achondroplasia due to a large head size, implanted shunts, airway obstruction, and difficulty in head control. Case description: A 6 years and 7 months male, the patient was diagnosed with achondroplasia, currently receiving vitamin D, no known drug allergy, and a mixed dentition stage with multiple caries, mouth breather, and a high risk of further caries based on a caries risk assessment due to poor oral hygiene. As the patient was uncooperative and required extensive dental care, dental rehabilitation was conducted under general anesthesia using oral intubation due to nasal obstruction. Future examinations were planned for every 3 months. Conclusion: The current case demonstrated that the characteristics of achondroplasia might cause respiratory, neurological, skeletal, orthodontic, and psychological difficulties. Pediatric dentists who treat these patients must be able to detect these characteristics and difficulties, as dental treatment is limited by practical issues associated with this condition. Clinical significance: The characteristic features of achondroplasia are attributed to skeletal, respiratory, neurologic, orthodontic, and psychosocial issues. The dentist should be aware of the features of achondroplasia, which can potentially restrict dental management. How to cite this article: Almutiry A, Alotaibi F, Almutiry B, et al. Craniofacial and Dental Manifestations in Pediatric Patients with Achondroplasia: A Case Report and Clinical View. Int J Clin Pediatr Dent 2023;16(2):409-415.