RESUMO
Hypomyelination and congenital cataract (HCC) is characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. This autosomal recessive disorder is caused by homozygous variant in the FAM126A gene. Five consanguineous Tunisian patients, belonging to three unrelated families, underwent routine blood tests, electroneuromyography, and magnetic resonance imaging of the brain. The direct sequencing of FAM126A exons was performed for the patients and their relatives. We summarized the 30 previously published HCC cases. All of our patients were carriers of a previously reported c.414 + 1G > T (IVS5 + 1G > T) variant, but the clinical spectrum was variable. Despite the absence of a phenotype-genotype correlation in HCC disease, screening of this splice site variant should be performed in family members at risk.
Assuntos
Catarata , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central , Catarata/congênito , Catarata/diagnóstico por imagem , Catarata/genética , Consanguinidade , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/diagnóstico por imagem , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/genética , Humanos , LinhagemRESUMO
The treatment of an industrial textile effluent (ITE) was investigated by using a mono-culture of a novel fungal strain Chaetomium globosum IMA1. This filamentous fungus was selected based on its capacity for dye removal via the biodegradation mechanism. The respirometric analysis showed that C. globosum IMA1 was resistant to an indigo concentration up to 700 mg equivalent COD/L. The decolourization of the ITE by C. globosum was performed in static and stirred batch systems. The better lignin peroxidase (LiP), laccase and the manganese peroxidase (MnP) productions were 829.9 U/L, 83 U/L and 247.8 U/L, respectively since 3-5 days under a stirred condition. Therefore, the chemical oxygen demand (COD) and colors (OD620) removal yields reached 88.4% and 99.8%, respectively. Fourier transforms infrared spectroscopy (FTIR) analysis of the treated effluent showed that the decolourization was due to the degradation and the transformation of dye molecules. However, spectrophotometric examination showed that the complete dye removal was through fungal adsorption (8%), followed by degradation (92%).
Assuntos
Biodegradação Ambiental , Chaetomium/metabolismo , Corantes/metabolismo , Índigo Carmim/metabolismo , Chaetomium/enzimologia , Chaetomium/genética , Humanos , Resíduos Industriais , Espectroscopia de Infravermelho com Transformada de Fourier , Indústria TêxtilRESUMO
In this present work, the disposal of waste frying oil was explored. The experiment tests were performed under nitrogen (N2) atmosphere at 5 °C/min heating rate from the ambient temperature to 500 °C. In these operating conditions, the obtained pyrolitic liquid fraction was 76 wt% formed by 63.87 wt% of crude bio-oil and 12.13 wt% of aqueous fraction. The chemical characterization using FTIR, GC, and GC/MS has revealed that the bio-oil is a complex chemical mixture of linear saturated, unsaturated, and cyclic hydrocarbons and oxygenated compounds such as carboxylic acids, ketones, aldehydes, and alcohols. Moreover, the produced bio-oil can be considered as promising fuel with high calorific value (â¼39 MJ/kg). However, the higher acidity (â¼125 mg KOH/g sample) and viscosity (9.53 cSt at 40 °C) limit currently its direct use in engines. Therefore, although several promising results, further investigations are requested to improve the bio-oil quality in order to find an environmentally friendly issue to waste frying oil.