RESUMO
The Irish Traveller population are an endogamous, traditionally nomadic, Irish population. Irish Travellers practice consanguinity in the majority of marriages, thus resulting in a higher rate of rare autosomal recessive conditions within the population due to homozygous variants. Herein, we outline the clinical phenotypes associated with metabolic conditions seen in this population presenting in the neonatal period, infancy and childhood. Although Irish Travellers are traditionally based in Ireland and the UK, there are populations also living in mainland Europe and the USA. While there is generally an understanding amongst Irish paediatricians of the recessive conditions seen with this population in Ireland, they may be less commonly encountered abroad. It is important to consider a non-genetic aetiology alongside any consideration for a metabolic disorder. CONCLUSION: This paper acts as a comprehensive review of the metabolic conditions seen and provides a guide for the investigation of an Irish Traveller child with a suspected metabolic condition. WHAT IS KNOWN: ⢠The Irish Traveller population are an endogenous population. ⢠There are higher rates of inherited metabolic conditions in this population compared to the general population in Ireland. WHAT IS NEW: ⢠This paper is a comprehensive review of all known inherited metabolic conditions encountered in the Irish Traveller population.
Assuntos
Viagem , Humanos , Europa (Continente) , Irlanda/epidemiologiaRESUMO
Experiments were conducted to study the dynamics of nitrous oxide (N2O) emission from wheat varieties viz., Sonalika, HUW 468, HUW 234 and DBW 14 grown in alluvial soils of North Bank Plain Agroclimatic Zone of Assam, India. Attempts were made to find out the relationship of N2O emission with plant morphophysiological, anatomical and soil properties. N2O fluxes from wheat varieties ranged from 40 µg N2O-N m⻲ h⻹ to 295 µg N2O-N m⻲ h⻹. Soil organic carbon and soil temperature have shown significant relationship with N2O flux. The rate of leaf transpiration recorded from the wheat varieties at different growth stages exhibited a positive correlation with N2O emission suggesting that movement of N2O along with the transpirational water flow may be an important mechanism of N2O transport and emission through wheat plants. Anatomical investigation by scanning electron microscope revealed that N2O emission has relationship with stomatal frequency of leaf and leaf sheaths. Variety HUW 234 with the highest stomatal frequency of leaf and leaf sheath also recorded higher seasonal N2O emission compared to other varieties. Seasonal N2O emission (E(sif)) of the varieties ranged from 3.25 to 3.81 kg N2O-N ha⻹. Significant variations in E(sif) values were recorded within the varieties.
Assuntos
Transporte Biológico/fisiologia , Óxido Nitroso/metabolismo , Folhas de Planta/fisiologia , Transpiração Vegetal/fisiologia , Triticum/anatomia & histologia , Triticum/metabolismo , Variação Genética , Genótipo , Índia , Óxido Nitroso/análise , Folhas de Planta/anatomia & histologia , Folhas de Planta/ultraestrutura , Estômatos de Plantas/anatomia & histologia , Estômatos de Plantas/ultraestrutura , Estações do Ano , Solo/química , Triticum/ultraestruturaRESUMO
The cytotoxicity and physical properties of the pyrrolo[1,2-a] benzimidazole (PBI) and pyrrolo-[1,2-a]indole (PI) aziridinyl quinones were compared in order to assess the influence of the benzimidazole ring on antitumor activity and DNA reductive alkylation. Our studies show that the PI system possesses none of the cytotoxicity of the PBI systems. Unlike the PBIs, the PI system does not reductively alkylate DNA. Apparently, the benzimidazole ring favors reductive alkylation due to its electron deficient character compared to indole. In addition, the benzimidazole ring may provide the hydrogen bonding interactions required for the interaction with DNA. Our findings resulted in the elucidation of a PBI pharmacophore. Inspection of the literature revealed another drug sharing the PBI pharmacophore, 5-(1-aziridinyl)-3-(hydroxymethyl)- 2-(3-hydroxy-1-propenyl)-1-methyl-1H-indole-4,7-dione (EO9), which remarkably has cytotoxic properties similar to those of the PBIs.
Assuntos
Antineoplásicos/síntese química , Antineoplásicos/farmacologia , Aziridinas/síntese química , Benzimidazóis/síntese química , Indolquinonas , Indóis/síntese química , Alquilação , Animais , Aziridinas/farmacologia , Aziridinas/uso terapêutico , Benzimidazóis/farmacologia , Benzimidazóis/uso terapêutico , Medula Óssea/efeitos dos fármacos , Bovinos , DNA/efeitos dos fármacos , Feminino , Ligação de Hidrogênio , Hidrólise , Indóis/farmacologia , Indóis/uso terapêutico , Camundongos , Camundongos Endogâmicos C57BL , Oxirredução , Relação Estrutura-Atividade , Células Tumorais CultivadasRESUMO
The influence of structure on DT-diaphorase substrate activity, topoisomerase II inhibition activity, and DNA reductive alkylation was studied for the 6-aziridinylpyrrolo[1,2-alpha]benzimidazolequinones (PBIs) and the 6-acetamidopyrrolo[1,2-alpha]benzimidazolequinones (APBIs). The PBIs are reductively activated by DT-diaphorase and alkylate the phosphate backbone of DNA via major groove interactions, while the APBIs are reductively inactivated by this enzyme since only the quinone form inhibits topoisomerase II. Bulk at the 7-position (butyl instead of methyl) significantly decreases k(cat)/K(m) for DT-diaphorase reductase activity for both PBIs and APBIs. As a result, a 7-butyl PBI has little cytotoxicity while the 7-butyl APBI has enhanced cytotoxicity. The type of 3-substituent and the configuration of the 3-position of the PBIs and APBIs influence DT-diaphorase substrate activity to a lesser degree. Bulk at the 7-position (butyl instead of methyl) had an adverse effect on APBI inhibition of topoisomerase II while the configuration of the 3-position had either an adverse or positive effect on inhibition of this enzyme. The configuration of the 3-position, when substituted with a hydrogen bond donor, influences the PBI reductive alkylation of DNA homopolymers. The rationale for this observation is that the R or S stereoisomers will determine if the 3-substituent points in the 3' or 5' direction and thereby influence the hydrogen-bonding interactions. The above findings were used to rationalize the relative cytotoxicity of various PBI and APBI derivatives.
Assuntos
Antineoplásicos Alquilantes/farmacologia , Benzimidazóis/farmacologia , DNA/metabolismo , Inibidores Enzimáticos/farmacologia , NAD(P)H Desidrogenase (Quinona)/metabolismo , Pirróis/farmacologia , Quinonas/farmacologia , Inibidores da Topoisomerase II , Alquilação , Animais , Antineoplásicos Alquilantes/química , Antineoplásicos Alquilantes/metabolismo , Benzimidazóis/química , Benzimidazóis/metabolismo , Ensaios de Seleção de Medicamentos Antitumorais , Eletroforese em Gel de Ágar , Inibidores Enzimáticos/química , Inibidores Enzimáticos/metabolismo , Cinética , Fígado/enzimologia , Estrutura Molecular , Oxirredução , Pirróis/química , Pirróis/metabolismo , Quinonas/química , Quinonas/metabolismo , Ratos , Ratos Endogâmicos , Relação Estrutura-Atividade , Especificidade por Substrato , Células Tumorais CultivadasRESUMO
The present study reports the suitability of termite mounds as a bulking agent for composting with crop residues and cow dung in pit method. Use of 50 kg termite mound with the crop residues (stover of ground nut: 361.65 kg; soybean: 354.59 kg; potato: 357.67 kg and mustard: 373.19 kg) and cow dung (84.90 kg) formed a good quality compost within 70 days of composting having nitrogen, phosphorus and potassium as 20.19, 3.78 and 32.77 g kg(-1) respectively with a bulk density of 0.85 g cm(-3). Other physico-chemical and germination parameters of the compost were within Indian standard, which had been confirmed by the application of multivariate analysis of variance and multivariate contrast analysis. Principal component analysis was applied in order to gain insight into the characteristic variables. Four composting treatments formed two different groups when hierarchical cluster analysis was applied.