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Present research work represents antiviral and antibacterial value of body fat of Saara hardwickii commonly called as spiny tailed lizard. Oil was extracted from body fats located in the ventral region of this animal using hydrocarbons e.g., n-hexane, methanol, butanol and ethyl acetate as a solvent. The antibacterial activity of lizard oil was tested against standard as well as multi-resistant lines ofEscherichia coli, Styphalococcus aureus, Pseudomonas aeruginosa and Proteus vulgaris alone and with antibiotic ampicillin. For antibacterial potential, Ethyl acetate and Butanol solvent extract showed best zone of inhibition (7mm) with P. aeruginosa and S. aureus respectively. For antiviral potential, Butanol and Methanol extract showed best HA (Hemagglutination) titer of 04 with NDV and IBV viral strain respectively. It is concluded that lizard oil has antimicrobial potential against different pathogens strains (virus, bacteria).
O presente trabalho de pesquisa apresenta a importância antiviral e antibacteriana da gordura corporal de Saara hardwickii, comumente chamado de lagarto de cauda espinhosa. O óleo foi extraído de gorduras corporais localizadas na região ventral desse animal usando hidrocarbonetos, por exemplo, n-hexano, metanol, butanol e acetato de etila, como solvente. A atividade antibacteriana do óleo do lagarto foi testada em linhagens padrão e multirresistentes de Escherichia coli, Staphylococcus aureus, Pseudomonas aeruginosa e Proteus vulgaris, de forma isolada e com antibiótico ampicilina. Para o potencial antibacteriano, acetato de etila e extrato de butanol apresentaram melhor zona de inibição (7 mm) com P. aeruginosa e S. aureus, respectivamente. Para o potencial antiviral, o extrato de butanol e o extrato de metanol apresentaram melhor título de hemaglutinação de 4 com as cepas virais NDV e IBV, respectivamente. Conclui-se que o óleo do lagarto possui potencial antimicrobiano contra diferentes cepas de patógenos (vírus e bactérias).
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Animais , Antivirais , Tecido Adiposo , Lagartos , AntibacterianosRESUMO
BACKGROUND: To date, there are over 320 variants identified in the IRF6 gene that cause Van der Woude syndrome or popliteal pterygium syndrome. We sequenced this gene in a South African orofacial cleft cohort to identify the causal IRF6 variants in our population. METHOD: Saliva samples from 100 patients with syndromic and non-syndromic CL ± P were collected. Patients were recruited from the cleft clinics at two public, tertiary hospitals in Durban, South Africa (SA), namely Inkosi Albert Luthuli Central Hospital (IALCH) and KwaZulu-Natal Children's Hospital (KZNCH). We prospectively sequenced the exons of IRF6 in 100 orofacial cleft cases, and where possible, we also sequenced the parents of the individuals to determine the segregation pattern. RESULTS: Two variants were identified; one novel (p.Cys114Tyr) and one known (p.Arg84His) missense variant in IRF6 gene were identified. The patient with the p.Cys114Tyr variant was non-syndromic with no clinical VWS phenotype expected of individuals with IRF6 coding variants, and the patient with the p.Arg84His had phenotypic features of popliteal pterygium syndrome. The p.Arg84His variant segregated in the family, with the father also being affected. CONCLUSIONS: This study provides evidence that IRF6 variants are found in the South African population. Genetic counselling is essential for affected families, particularly in the absence of a known clinical phenotype since it helps with the plans for future pregnancies.
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BACKGROUND: Masked hypertension (HTN), especially, isolated nocturnal HTN (INH) has been shown to be a risk factor for cardiovascular disease (CVD) but is not studied well in pediatric heart transplant (PHT) patients. Ambulatory blood pressure monitoring (ABPM) is known to identify patients with HTN but is not used routinely in PHT. METHODS: A single-center, prospective, cross-sectional study of PHT recipients was performed to observe the incidence of masked HTN using 24-h ABPM. The relationship between ABPM parameters and clinical variables was assessed using Spearman correlation coefficient. p value < 0.05 was considered significant. RESULTS: ABPM was performed in 34 patients, mean age 14 ± 5 years, median 5.5 years post-PHT. All patients had normal cardiac function, left ventricular mass index and blood pressure measurements in the clinic. Four patients had known prior HTN and on medications, one of them was uncontrolled. Of the remaining 30 patients, 18 new patients were diagnosed with masked HTN, of which 14 had INH. Diurnal variation was abnormal in 82% (28/34) patients. 24-h diastolic blood pressure (DBP) index correlated with glomerular filtration rate (GFR) (r = - 0.44, p = 0.01). There was no correlation between other ABPM parameters with tacrolimus trough levels. CONCLUSIONS: ABPM identified masked HTN in 60% of patients, with majority being INH. Abnormal circadian BP patterns were present in 82% and an association was found between GFR and DBP parameters. HTN, especially INH, is under-recognized in PHT recipients and ABPM has a role in their long-term care.
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The present study describes the haematological profile, feeding preference, and comparison of morphometric characters of blue rock pigeon (Columba livia) breeding pairs. For this purpose, 25 pairs (25 samples per sex) were sampled through Mist nets from district Okara and Bahawalnagar, Punjab, Pakistan. Birds were then anaesthetized with a combination of ketamine HCL (10 mg/kg) and diazepam (0.2 mg/kg) and subjected to morphometric measurements. 5µL blood also was taken from the jugular vein of each anaesthetized bird for haematological analysis. Few pairs were also dissected to remove gastrointestinal tracts (GITs) for food preferences. Results revealed that there are no significant differences in the haematological parameters and feeding preference of breeding pairs of Columba livia. The gut analysis further revealed, the major portion of gut contents consisted of pea and corn in most of the pairs. Regarding the mensural measurements, significant differences were recorded in the body weight, length of the longest primary feather, and chest circumference, whereas the rest of the studied parameters remain nonsignificant between sexes. So, it is concluded that apart from 3 morphometric parameters (body weight, length of longest primary feather and chest circumference), both sexes are alike in term of morphometry, haematology and food preference.(AU)
O presente estudo descreve o perfil hematológico, a preferência alimentar e a comparação de caracteres morfométricos de casais reprodutores de pombo-rocha (Columba livia). Para tanto, 25 pares (25 amostras por sexo) foram amostrados por meio de redes de névoa do distrito de Okara e Bahawalnagar, Punjab, Paquistão. As aves foram então anestesiadas com uma combinação de cetamina HCL (10 mg/kg) e diazepam (0,2 mg/kg) e submetidas a medidas morfométricas; 5 µL de sangue também foram retirados da veia jugular de cada ave anestesiada para análise hematológica. Poucos pares também foram dissecados para remover o trato gastrointestinal (GITs) para preferências alimentares. Os resultados revelaram que não há diferenças significativas nos parâmetros hematológicos e na preferência alimentar dos casais reprodutores de Columba livia. A análise intestinal revelou ainda que a maior parte do conteúdo intestinal consistia em ervilha e milho na maioria dos pares. Em relação às medidas mensurais, foram registradas diferenças significativas no peso corporal, comprimento da pena primária mais longa e circunferência torácica, enquanto os demais parâmetros estudados permanecem não significativos entre os sexos. Assim, conclui-se que além de três parâmetros morfométricos (peso corporal, comprimento da pena primária mais longa e circunferência torácica), ambos os sexos são semelhantes em termos de morfometria, hematologia e preferência alimentar.(AU)
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Animais , Columbidae/anatomia & histologia , Columbidae/sangue , Dieta/veterináriaRESUMO
Abstract The present study describes the haematological profile, feeding preference, and comparison of morphometric characters of blue rock pigeon (Columba livia) breeding pairs. For this purpose, 25 pairs (25 samples per sex) were sampled through Mist nets from district Okara and Bahawalnagar, Punjab, Pakistan. Birds were then anaesthetized with a combination of ketamine HCL (10 mg/kg) and diazepam (0.2 mg/kg) and subjected to morphometric measurements. 5µL blood also was taken from the jugular vein of each anaesthetized bird for haematological analysis. Few pairs were also dissected to remove gastrointestinal tracts (GITs) for food preferences. Results revealed that there are no significant differences in the haematological parameters and feeding preference of breeding pairs of Columba livia. The gut analysis further revealed, the major portion of gut contents consisted of pea and corn in most of the pairs. Regarding the mensural measurements, significant differences were recorded in the body weight, length of the longest primary feather, and chest circumference, whereas the rest of the studied parameters remain nonsignificant between sexes. So, it is concluded that apart from 3 morphometric parameters (body weight, length of longest primary feather and chest circumference), both sexes are alike in term of morphometry, haematology and food preference.
Resumo O presente estudo descreve o perfil hematológico, a preferência alimentar e a comparação de caracteres morfométricos de casais reprodutores de pombo-rocha (Columba livia). Para tanto, 25 pares (25 amostras por sexo) foram amostrados por meio de redes de névoa do distrito de Okara e Bahawalnagar, Punjab, Paquistão. As aves foram então anestesiadas com uma combinação de cetamina HCL (10 mg/kg) e diazepam (0,2 mg/kg) e submetidas a medidas morfométricas; 5 µL de sangue também foram retirados da veia jugular de cada ave anestesiada para análise hematológica. Poucos pares também foram dissecados para remover o trato gastrointestinal (GITs) para preferências alimentares. Os resultados revelaram que não há diferenças significativas nos parâmetros hematológicos e na preferência alimentar dos casais reprodutores de Columba livia. A análise intestinal revelou ainda que a maior parte do conteúdo intestinal consistia em ervilha e milho na maioria dos pares. Em relação às medidas mensurais, foram registradas diferenças significativas no peso corporal, comprimento da pena primária mais longa e circunferência torácica, enquanto os demais parâmetros estudados permanecem não significativos entre os sexos. Assim, conclui-se que além de três parâmetros morfométricos (peso corporal, comprimento da pena primária mais longa e circunferência torácica), ambos os sexos são semelhantes em termos de morfometria, hematologia e preferência alimentar.
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Animais , Columbidae , Preferências Alimentares , Paquistão , Plumas , Melhoramento VegetalRESUMO
OBJECTIVES: To detect cathelicidin levels in pediatric patients with type 1 diabetes (T1D) as a potential marker for diabetic vascular complications and to assess its relation to diastolic dysfunction as an index for subclinical macrovasculopathy. METHODS: Totally, 84 patients with T1D were categorized into three groups; newly diagnosed diabetes group (28 patients with a mean age of 12.38 ± 1.99) years, T1D without microvascular complications group (28 patients with a mean age of 13.04 ± 2.27), and T1D with microvascular complications group (28 patients with a mean age of 13.96 ± 2.30). Patients were evaluated using serum cathelicidin levels and echocardiography. RESULTS: Total cholesterol, microalbuminuria, and cathelicidin levels were significantly higher in patients with microvascular complications when compared to the other two groups (p<0.001). Additionally, carotid intima-media thickness (CIMT) echocardiography values and diastolic functions were significantly higher in patients with complications (p<0.001). Cathelicidin was positively correlated to the duration of diabetes (r=0.542, p<0.001), total cholesterol (r=0.346, p=0.001), recurrence of hypoglycemia (r=0.351, p=0.001), recurrence of diabetes ketoacidosis (r=0.365, p=0.001), CIMT (r=0.544, p<0.001), and E/A values (r=0.405, p<0.001). CONCLUSIONS: Serum cathelicidin levels can be used as an early marker for the occurrence and progression of vascular complications in patients with T1D.
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Diabetes Mellitus Tipo 1 , Humanos , Adolescente , Criança , Diabetes Mellitus Tipo 1/complicações , Espessura Intima-Media Carotídea , Biomarcadores , Colesterol , CatelicidinasRESUMO
Economic development and population growth lead to the increased production of chicken manure, which is a problematic organic waste in terms of its amount, environmental threats, and moisture content. In this study, hydrothermal carbonization, an emerging way of waste disposal, was performed on chicken manure to produce an energy-rich material called hydrochar. The effects of hydrothermal carbonization temperature (180, 240, 300 °C) and process time (30, 90, 180 min) were summarized. Proximate and ultimate analysis, as well as low and high heating values were applied both on raw material and derived hydrochars. Additionally, the performance of the process was examined. The obtained results show that hydrothermal carbonization is a feasible method for chicken manure disposal and valorization. Although the process time did not influence the fuel properties of chicken manure considerably, a higher temperature led to a significantly higher heating value, reaching 23,880.67 ± 34.56 J × g-1 at 300 °C and 180 min with an improvement of ~8329 J × g-1 compared with raw chicken manure (15,551.67 J × g-1). Considering the energy gain value, the hydrochar derived at 240 °C in 30 min had the best result. Moreover, the energy consumption for this process was relatively low (124.34 ± 8.29 kJ × g-1). With its still feasible fuel properties and high heating value of 20,267.00 ± 617.83 kJ × g-1, it was concluded that these parameters of chicken manure hydrochar are the most beneficial and present a potential alternative for conventional fuel.
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OBJECTIVES: Breast cancer is the most commonly diagnosed invasive non-skin malignancy in women worldwide, and it is the leading cause of cancer-related deaths in them. Nigella sativa Linn. seed oil has been found to be effective in cancer treatment as well as having anti-cancer properties in some other types of cancers. The study looked into the synergistic cytotoxic effects of N. sativa Linn. seed oil and doxorubicin in the treatment of human breast cancer cells (MCF-7). METHODS: Nigella sativa Linn. seed oil was used to evaluate its effect on human breast cancer cells, either alone or in conjunction with doxorubicin. 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) tests were used to examine cell proliferation and cell viability, while phase-contrast inverted microscopy was used to examine cellular morphology. Furthermore, the role of N. sativa seed oil in decreasing cell tumorigenicity features was highlighted by testing the cancer cell migration using the wound healing assay. RESULTS: Results showed that higher concentrations (50 µg/mL) of N. sativa Linn. seed oil changed the breast cancer cell morphology and decreased the cell proliferation and viability. Breast cancer cells treated with black seed oil decreased cell movement after 24 hours compared to the untreated cell in the wound healing assay. Whereas, only the higher concentration of doxorubicin (0.5-2.5 µg/mL) reduced cell proliferation and cell viability. Moreover, the combination treatment of 50 µg/mL of black seed oil with different concentrations of doxorubicin caused a significant cell proliferation reduction and decreased cell viability. The activity was seen optimum at lower concentration (0.1 µg/mL) of doxorubicin. CONCLUSIONS: There was decreased cell proliferation and cell viability when N. sativa seed oil was used alone or in conjunction with doxorubicin in Breast cancer cells (MCF-7) revealing potential opportunities in the field of cancer treatment.
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Antineoplásicos , Neoplasias da Mama , Nigella sativa , Antineoplásicos/farmacologia , Neoplasias da Mama/tratamento farmacológico , Carum , Citotoxinas , Doxorrubicina/farmacologia , Feminino , Humanos , Extratos Vegetais/farmacologia , Óleos de Plantas/farmacologiaRESUMO
The indiscriminate use of antimicrobials in livestock production is of increasing concern due to the threat of antimicrobial resistance in both humans and animals. Much emphasis has been placed on intensively managed poultry production systems, which routinely use antimicrobials as against smallholder poultry production systems (SPPS). Therefore, this study investigated the use of antimicrobials among smallholder poultry farmers in Nigeria, and compared the prevalence of antimicrobial drug use against the practice of ethnoveterinary medicine (EVM). A cross-sectional study was conducted in five states (agroecologies) of Nigeria using structured questionnaires administered on a total of 350 farmers. The practice of EVM was prevalent among most of the farmers (39%). The western method (pharmaceuticals) was practiced by a large proportion of farmers (60%), either solely (25%) or in combination with EVM (35%). Antimicrobials were used primarily for treatment and prevention of diseases (78%). Semi-scavenging system of production had the highest proportion (49%) of farmers using antimicrobials, compared to semi-intensive (37%) and scavenging (14%) systems. Gender (χ 2 = 9.30, p = 0.01), and location (χ 2 = 216.86, p ≤ 0.001), influenced farmers' choice of methods for bird treatment. Education (odds ratio [OR] odds ratio [OR] 3.06, 95% CI 2.10-4.44), income (OR 1.99, 95% CI 1.10-3.59) and management system (OR 1.97, CI% 1.1-3.45) were most associated with antimicrobial use. Critically important antibiotics, with lower to higher risk of antimicrobial resistance, were used by farmers (40%). These findings showed the indiscriminate use of antimicrobials by farmers and the potential risk of antimicrobial resistance within the SPPS in Nigeria.
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BACKGROUND: Allergic respiratory diseases (ARD) are a highly prevalent health problem affecting infants and children in Yemen. Early infant feeding predisposition to the development of ARD has been a controversial question. The aim of this study is to investigate the association between early feeding before 6 months of age and the development of ARD among children attending Childhood and Maternity Public Hospital (CMPH), Ibb, Yemen Republic. SUBJECTS AND METHODS: The study population included 151 child patients attending the pediatric clinic at CMPH. Upon clinical and laboratory examinations, 72 out of 151 patients had ARD, while the other 79 had diseases other than ARD; all of them were used in risk assessment. Fifteen blood samples from healthy volunteers were used in laboratory investigations as a control. Complete blood count and IgE level were investigated for all participants. Children's parents were requested to give an informed consent and fill questionnaire about demography and history details. RESULTS: Early infant feeding was a significant risk factor for the development of ARD with an odds ratio (OR) of 6.8 and 95% confidence interval (CI) 3.0 to 15.3. Artificial milk particularly was risk factor with an OR of 6.1 and 95% confidence interval 2.7 to 13.5. Artificial milk exhibited more wheezing and asthma attack than others (OR 4.3, 95% CI 1.9 to 9.4 and OR 7.6, 95% CI 3.5 to 16.3, respectively). The risk of wheezing and asthma attack also increase with early feeding generally (OR 3.0, 95% CI 1.3 to 7.2 and OR 4.8, 95% CI 2.2 to 8.1, respectively). The patients had a higher sensitization markers than the control, such as eosinophil count and total serum IgE. The highest levels of IgE ever reported existed among early fed patients with artificial milk. CONCLUSIONS: Early infant feeding, particularly with artificial milk, is a risk factor predisposing infants to the development of allergic respiratory disease presented with more clinical features of wheezing and asthma attack.
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Alimentos Infantis , Hipersensibilidade Respiratória/prevenção & controle , População Rural , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Hipersensibilidade Respiratória/epidemiologia , Fatores de Risco , Iêmen/epidemiologiaRESUMO
Present research work represents antiviral and antibacterial value of body fat of Saara hardwickii commonly called as spiny tailed lizard. Oil was extracted from body fats located in the ventral region of this animal using hydrocarbons e.g., n-hexane, methanol, butanol and ethyl acetate as a solvent. The antibacterial activity of lizard oil was tested against standard as well as multi-resistant lines ofEscherichia coli, Styphalococcus aureus, Pseudomonas aeruginosa and Proteus vulgaris alone and with antibiotic ampicillin. For antibacterial potential, Ethyl acetate and Butanol solvent extract showed best zone of inhibition (7mm) with P. aeruginosa and S. aureus respectively. For antiviral potential, Butanol and Methanol extract showed best HA (Hemagglutination) titer of 04 with NDV and IBV viral strain respectively. It is concluded that lizard oil has antimicrobial potential against different pathogens strains (virus, bacteria).
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Anti-Infecciosos , Produtos Biológicos/farmacologia , Lagartos , Animais , Antibacterianos/farmacologia , Anti-Infecciosos/farmacologia , Testes de Sensibilidade Microbiana , Staphylococcus aureusRESUMO
Clean energy is highly needed at this time when the energy requirements are rapidly increasing. The observed increasing energy requirement are largely due to continued industrialization and global population explosion. The current means of energy source is not sustainable because of several reasons, most importantly, environmental pollution and human health deterioration due to burning of fossil fuels. Therefore, this study develops a new catalyst for hydrogen and oxygen evolution by water splitting as a potential energy vector. The binary metal oxide catalyst CdFe2O4 was synthesized by the solventless solid-mechanical alloying method. The as-prepared catalyst was well characterized by several methods including field emission scanning electron microscopy (FESEM), X-ray diffraction spectroscopy (XRD), X-ray photoelectron spectroscopy (XPS), Fourier Transform infrared red spectroscopy (FTIR), energy dispersive X-ray spectroscopy (XEDS). The as-prepared catalyst, CdFe2O4 was successfully applied for water electrolysis at a moderate overpotential (470 mV). Specifically, the onset potential for the oxygen and hydrogen evolution reactions (OER and HER) were 1.6 V/RHE and 0.2 V/RHE respectively (vs. the reversible hydrogen electrode). The electrode potential required to reach 10 mA/cm-2 for OER (in alkaline medium) and HER (in acidic medium) was 1.70 V/RHE (corresponding to overpotential η = 0.47 and - 0.30 V/RHE (η = - 0.30 V) respectively. Similarly, the developed OER and HER catalyst displayed high current and potential stability for a period of 12 h. This approach is seen as the right track of making water electrolysis for hydrogen energy feasible through provision of low-energy requirement for the electrolytic process. Therefore, CdFe2O4 is a potential water splitting catalyst for hydrogen evolution which is a clean fuel and an antidote for world dependence on fossil fuel for energy generation.
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Electroreduction of carbon dioxide (CO2) in a flow electrolyzer represents a promising carbon-neutral technology with efficient production of valuable chemicals. In this work, the catalytic performance of polycrystalline copper (Cu), Cu2O-derived copper (O(I)D-Cu), and CuO-derived copper (O(II)D-Cu) toward CO2 reduction is unraveled in a custom-designed flow cell. A peak Faradaic efficiency of >70% and a production rate of ca. -250 mA cm-2 toward C2+ products have been achieved on all the catalysts. In contrast to previous studies that reported a propensity for C2+ products on OD-Cu in conventional H-cells, the selectivity and activity of ethylene-dominated C2+ products are quite similar on the three types of catalysts at the same current density in our flow reactor. Our analysis also reveals current density to be a critical factor determining the C-C coupling in a flow cell, regardless of Cu catalyst's initial oxidation state and morphology.
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OBJECTIVE: Nonsyndromic cleft lip and/or cleft palate (NSCL/P) have multifactorial etiology where genetic factors, gene-environment interactions, stochastic factors, gene-gene interactions, and parent-of-origin effects (POEs) play cardinal roles. POEs arise when the parental origin of alleles differentially impacts the phenotype of the offspring. The aim of this study was to identify POEs that can increase risk for NSCL/P in humans using a genome-wide dataset. METHODS: The samples (174 case-parent trios from Ghana, Ethiopia, and Nigeria) included in this study were from the African only genome wide association studies (GWAS) that was published in 2019. Genotyping of individual DNA using over 2 million multiethnic and African ancestry-specific single-nucleotide polymorphisms from the Illumina Multi-Ethnic Genotyping Array v2 15070954 A2 (genome build GRCh37/hg19) was done at the Center for Inherited Diseases Research. After quality control checks, PLINK was employed to carry out POE analysis employing the pooled subphenotypes of NSCL/P. RESULTS: We observed possible hints of POEs at a cluster of genes at a 1 mega base pair window at the major histocompatibility complex class 1 locus on chromosome 6, as well as at other loci encompassing candidate genes such as ASB18, ANKEF1, AGAP1, GABRD, HHAT, CCT7, DNMT3A, EPHA7, FOXO3, lncRNAs, microRNA, antisense RNAs, ZNRD1, ZFAT, and ZBTB16. CONCLUSION: Findings from our study suggest that some loci may increase the risk for NSCL/P through POEs. Additional studies are required to confirm these suggestive loci in NSCL/P etiology.
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Fenda Labial , Fissura Palatina , África Subsaariana , Fenda Labial/genética , Fissura Palatina/genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Humanos , Polimorfismo de Nucleotídeo ÚnicoRESUMO
OBJECTIVE: The etiology of cleft palate (CP) is poorly understood compared with that of cleft lip with or without palate (CL ± P). Recently, variants in Grainyhead like transcription factor 3 (GRHL3) were reported to be associated with a risk for CP in European and some African populations including Nigeria, Ghana, and Ethiopia. In order to identify genetic variants that may further explain the etiology of CP, we sequenced GRHL3 in a South African population to determine if rare variants in GRHL3 are associated with the presence of syndromic or nonsyndromic CP. DESIGN: We sequenced the exons of GRHL3 in 100 cases and where possible, we sequenced the parents of the individuals to determine the segregation pattern and presence of de novo variants. SETTING: The cleft clinics from 2 public, tertiary hospitals in Durban, South Africa (SA), namely Inkosi Albert Luthuli Central Hospital and KwaZulu-Natal Children's Hospital. PATIENTS, PARTICIPANTS: One hundred patients with CL ± P and their parents. INTERVENTIONS: Saliva samples were collected. MAIN OUTCOME MEASURES: To ascertain the genetic variants in the GRHL3 gene in patients with CL ± P in SA. RESULTS: Five variants in GRHL3 were observed; 3 were novel and 2 were known variants. The novel variants were intronic variants (c.1062 + 77A>G and c.627 + 1G>A) and missense variant (p.Asp169Gly). CONCLUSIONS: This study provides further evidence that variants in GRHL3 contribute to the risk of nonsyndromic CP in African populations, specifically, in the South African population.
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Fenda Labial , Fissura Palatina , Criança , Fenda Labial/genética , Fissura Palatina/genética , Proteínas de Ligação a DNA/genética , Humanos , Polimorfismo de Nucleotídeo Único , África do Sul , Fatores de Transcrição/genéticaRESUMO
Hydrogen is considered as the "holy grail" for the energy community. One of the most promising strategies to produce hydrogen is to split water using renewable energy such as solar radiation. The abundance of water and solar energy enables the potential of scaling-up of this new technology, if suitable electrocatalysts and solar cells are developed. In this work, a series of materials made of earth-abundant elements was investigated for hydrogen evolution or oxygen evolution reaction. Among the developed catalysts, MoS2 and NiFe showed the best activities for proton reduction and water oxidation, respectively. These catalysts were further integrated into an alkaline electrolyzer, which delivered a current density of 10â mA cm-2 at a cell voltage of 1.9â V for water splitting. Using two in-series-connected perovskite solar cells (PSCs) as a power source, a remarkable solar-to-hydrogen conversion efficiency of 12.67 % was achieved in an alkaline electrolyzer with a partial current density of 10.3â mA cm-2 for hydrogen production. The usage of earth-abundant catalysts in this study, together with the employment of low-cost perovskite light absorber, shows the potential of scaling up this type of photovoltaic electrolyzer for sustainable hydrogen production.
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BACKGROUND: Van der Woude syndrome (VWS) is the most common syndromic orofacial cleft which accounts for approximately 2% of all cleft lip (CL) and/or palate cases. It is characterized by the presence of lower lip pits, in addition to CL, CL with or without cleft palate, cleft palate only, and hypodontia. It is inherited as an autosomal-dominant trait with almost complete penetrance but variable expressivity, and different variants in IRF6 gene have been reported in different populations around the world including African populations (Ethiopian, Ghanaian, and Nigerian). METHODS AND FINDINGS: The authors investigated the role of IRF6 in Ethiopian families with VWS. The DNA of 7 families with VWS from Ethiopia were screened by Sanger sequencing. The authors screened all 9 exons of IRF6 and found a novel missense variant in exon 4 (p. Gly65Glu). This variant was predicted to be deleterious/probably damaging by Sift and PolyPhen, respectively. The IRF6 variant (p. Gly65Glu) segregates in the family since it was identified in the father and a sibling. CONCLUSION: Several of the individuals with lower lip pits in this study did not seek treatment. This is due to lack of awareness about the significance of this minor looking deformity and its consequences, and availability of treatment for birth defects. Therefore, it is important to educate families. Finally, screening for novel variants in known genes has a role in counseling and prenatal diagnosis for high-risk families.
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Fenda Labial , Fissura Palatina , Anormalidades Múltiplas , Fenda Labial/genética , Fissura Palatina/genética , Cistos , Etiópia , Gana , Humanos , Fatores Reguladores de Interferon/genética , Lábio/anormalidades , Mutação , LinhagemRESUMO
OBJECTIVES: To retrospectively review a small series of infant neuroblastoma (NBL) in a single Saudi medical institution over 10 years, including their presentation, management, and outcomes. METHODS: Fifty-three subjects aged 0 to 14 years with previously untreated NBL who were diagnosed and treated at Princess Nora Oncology Center, King Abdulaziz Medical City (KAMC), Jeddah, Saudi Arabia, between 2010 and 2019. Six infants (11.3%) had stage 4S characteristics. RESULTS: The median age at diagnosis was 3 months (range 52 days - 4 months). Biopsies confirmed that the adrenal gland was the primary tumor site for 3 patients, while the other 2 had retroperitoneal sites. Four patients had favorable histology, and one had unfavorable histology. All patients had liver metastasis, and no bone marrow or skin metastasis was recorded. All patients received chemotherapy except one, and all survived with no disease progression at a median follow up to 5 years. CONCLUSION: Our data confirm that NBL-4S is a curable cancer, especially with early recognition and intervention. Chemotherapy is the first-line treatment for symptomatic patients. Unless the condition is life threatening, radiotherapy is not indicated. Surgical resection may be indicated in younger infants with localized tumors and favorable biology, but otherwise, it is not usually indicated for residual cases.
Assuntos
Neuroblastoma , Pré-Escolar , Humanos , Lactente , Estadiamento de Neoplasias , Neuroblastoma/patologia , Neuroblastoma/terapia , Prognóstico , Estudos Retrospectivos , Arábia Saudita , Resultado do TratamentoRESUMO
More still needs to be learned regards the relative contamination of heavy metals and pesticide residues, particularly those found in widely consumed Nigerian food crops like cereals, vegetables, and tubers. In this current study, the heavy metals and pesticide residues detectable in widely consumed Nigerian food crops were respectively quantified using atomic absorption spectroscopy (AAS) and gas chromatography (GC). Specifically, the widely consumed Nigerian food crops included cereals (rice, millet, and maize), legume (soybean), tubers (yam and cassava), as well as leaf (fluted pumpkin, Amaranthus leaf, waterleaf, and scent leaf) and fruit vegetables (okro, cucumber, carrot, and watermelon). Results showed that the detected heavy metals included arsenic (As), cadmium (Cd), chromium (Cr), cobalt (Co), iron (Fe), lead (Pb), manganese (Mn), mercury (Hg), and nickel (Ni), whereas the pesticide residues included Aldrin, Carbofuran, g-chlordane, Chlorpyrifos, DichloroBiphenyl, Dichlorodiphenyldichloroethane (DDD), Dichlorodiphenyltrichloroethane (DDT), Dichlorvos, Endosulfan, Heptachlor, Hexachlorobenzene (HCB), Isopropylamine, Lindane, t-nonachlor, and Profenofos. Across the studied food crops, the concentrations of heavy metals and pesticides were varied, with different trends as they largely fell below the established maximum permissible limits, and with some exceptions. Our findings suggest there could be a somewhat gradual decline in the concentration of the heavy metals and pesticide residues of these studied food crops when compared to previously published reports specific to Nigeria. To help substantiate this observation and supplement existing information, further investigations are required into the concentration of these heavy metals and pesticide residues specific to these studied food crops at other parts of the country.
Assuntos
Contaminação de Alimentos/análise , Metais Pesados/análise , Resíduos de Praguicidas/análise , Cromatografia Gasosa , Produtos Agrícolas/química , Nigéria , Espectrofotometria AtômicaRESUMO
Cadmium belongs to the group of potentially toxic metals that have high health and environmental significance. Due to its adverse effects on the environment, this study develops an effective electrochemical sensor for detecting a polyaniline-multiwalled carbon nanotube-3-aminopropyltriethoxysilane (PANI-MWCNT-APTES) substrate cast on the GCE. The as-prepared PANI-MWCNT-APTES was prepared by a wet chemical method, and its formation was investigated using several techniques. As a result, the prepared material exhibited a limit of detection of 0.015 µM for cadmium ions (Cd2+) in the linear dynamic range of 0.05 µM to 50 µM. Furthermore, the PANI-MWCNT-APTES-modified GCE current response was stable, repeatable, reproducible, and short. In addition, PANI-MWCNT-APTES/GCE was harnessed for the first time for cadmium detection in real water samples, and the result was satisfactory. Therefore, the recorded results suggest that the newly designed PANI-MWCNT-APTES is a promising material for detecting Cd in the near future for human health and environmental protection.