A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy.

PURPOSE: To describe the clinical features, imaging characteristics, and genetic test results associated with a novel compound heterozygous mutation of the BEST1 gene in two siblings with autosomal recessive bestrophinopathy. METHODS: Two siblings underwent a complete ophthalmic examination, including dilated fundus examination, fundus photography, fundus autofluorescence imaging, spectral-domain optical coherence tomography, fluorescein angiography, electroretinography, and electrooculography. A clinical diagnosis of autosomal recessive bestrophinopathy was established based on ocular examination and multimodal retinal imaging. Subsequently, clinical exome sequencing consisting of a panel of 6670 genes was carried out to confirm the diagnosis and assess genetic alterations in the protein-coding region of the genome of the patients. The identified mutations were tested in the two affected siblings and one of their parents. RESULTS: Two siblings (a 17-year-old female and a 15-year-old male) presented with reduced visual acuity and bilaterally symmetrical subretinal deposits of hyperautofluorescent materials in the posterior pole, which showed staining in the late phase of fluorescein angiogram. Spectral-domain optical coherence tomography demonstrated hyperreflective subretinal deposits and subretinal fluid accumulation. Both patients shared two mutations in the protein-coding region of the BEST1 gene, c.103G > A, p.(Glu35Lys) and c.313C > A, p.(Arg105Ser) (a novel disease-causing mutation). Sanger sequencing confirmed that the unaffected mother of the proband was carrying p.(Glu35Lys) variant in a heterozygous state. CONCLUSIONS: We have identified and described the phenotype of a novel disease-causing mutation NM_004183.4:c.313C > A, p.(Arg105Ser) in a heterozygous state along with a previously reported mutation NM_004183.4:c.103G > A, p.(Glu35Lys) of the BEST1 gene in two related patients with autosomal recessive bestrophinopathy.

Prospects of banana waste utilization in wastewater treatment: A review.

This review article explores utilization of banana waste (fruit peels, pseudo-stem, trunks, and leaves) as precursor materials to produce an adsorbent, and its application against environmental pollutants such as heavy metals, dyes, organic pollutants, pesticides, and various other gaseous pollutants. In recent past, quite a good number of research articles have been published on the utilization of low-cost adsorbents derived from biomass wastes. The literature survey on banana waste derived adsorbents shown that due to the abundance of banana waste worldwide, it also considered as low-cost adsorbents with promising future application against various environmental pollutants. Furthermore, raw banana biomass can be chemically modified to prepare efficient adsorbent as per requirement; chemical surface functional group modification may enhance the multiple uses of the adsorbent with industrial standard. It was evident from a literature survey that banana waste derived adsorbents have significant removal efficiency against various pollutants. Most of the published articles on banana waste derived adsorbents have been discussed critically, and the conclusion is drawn based on the results reported. Some results with poorly performed experiments were also discussed and pointed out their lacking in reporting. Based on literature survey, the future research prospect on banana wastes has a significant impact on upcoming research strategy.

A review of avocado waste-derived adsorbents: Characterizations, adsorption characteristics, and surface mechanism.

Avocado is one of the most important fruits with a high nutritional content; this fruit is consumed and cultivated worldwide. It is originally grown in Central America and the West Indies islands. But it is now cultivated in the tropical and subtropical regions of the world. Avocado waste is an abundantly available raw material that can be converted into adsorbents to remove different pollutants from aqueous solutions. This review article explores the utilization of avocado waste as raw material to develop an efficient adsorbent and its use against various toxicants. Many research papers have been published on the use of avocado waste-derived adsorbents in the recent past. The factors that affect the adsorption processes are examined in light of published references. Some critical adsorption parameters, such as equilibrium (isotherms), kinetics, and thermodynamics, have been reported in the published literature; these parameters and their data are critically discussed. The characterization, mechanism, and surface chemistry of avocado waste-derived adsorbents are also discussed. To date, no review article on avocado waste-derived adsorbents is available, where researchers can get an overview of the preparation, characterization, and adsorption attributes of avocado waste adsorbents against various pollutants. Recent literature demonstrates the effective utilization of avocado waste as a cleaner and sustainable raw material for the production of adsorbents.

Oil palm biomass-based adsorbents for the removal of water pollutants--a review.

This article presents a review on the role of oil palm biomass (trunks, fronds, leaves, empty fruit bunches, shells, etc.) as adsorbents in the removal of water pollutants such as acid and basic dyes, heavy metals, phenolic compounds, various gaseous pollutants, and so on. Numerous studies on adsorption properties of various low-cost adsorbents, such as agricultural wastes and its based activated carbons, have been reported in recent years. Studies have shown that oil palm-based adsorbent, among the low-cost adsorbents mentioned, is the most promising adsorbent for removing water pollutants. Further, these bioadsorbents can be chemically modified for better efficiency and can undergo multiple reuses to enhance their applicability at an industrial scale. It is evident from a literature survey of more than 100 recent papers that low-cost adsorbents have demonstrated outstanding removal capabilities for various pollutants. The conclusion is been drawn from the reviewed literature, and suggestions for future research are proposed.

Removal of pesticides from water and wastewater by different adsorbents: a review.

In this review article, the use of various low-cost adsorbents for the removal of pesticides from water and wastewater has been reviewed. Pesticides may appear as pollutants in water sources, having undesirable impacts to human health because of their toxicity, carcinogenicity, and mutagenicity or causing aesthetic problems such as taste and odors. These pesticides pollute the water stream and it can be removed very effectively using different low-cost adsorbents. It is evident from a literature survey of about 191 recently published papers that low-cost adsorbents have demonstrated outstanding removal capabilities for pesticides.

Conversion of flaxseed oil into biodiesel using KOH catalyst: Optimization and characterization dataset.

The dataset presented here are part of the data planned to produce biodiesel from flaxseed. Biodiesel production from flaxseed oil through transesterification process using KOH as catalyst, and the operating parameters were optimized with the help of face-centered central composite design (FCCD) of response surface methodology (RSM). The operating independent variables selected such as, methanol oil ratio (4:1 to 6:1), catalyst (KOH) weight (0.40-1.0%), temperature (35 °C-65 °C), and reaction time (30 min-60 min) were optimized against biodiesel yield as response. The maximum yield (98.6%) of biodiesel from flaxseed can achieved at optimum methanol oil ratio (5.9:1), catalyst (KOH) weight (0.51%), reaction temperature (59.2 °C), and reaction time (33 min). The statistical significance of the data set was tested through the analysis of variance (ANOVA). These data were the part of the results reported in "Optimization of process variables for biodiesel production by transesterification of flaxseed oil and produced biodiesel characterizations" Renewable Energy [1].

The use of date palm as a potential adsorbent for wastewater treatment: a review.

BACKGROUND: In tropical countries, the palm tree is one of the most abundant and important trees. Date palm is a principal fruit grown in many regions of the world. It is abundant, locally available and effective material that could be used as an adsorbent for the removal of different pollutants from aqueous solution. REVIEW: This article presents a review on the role of date palm as adsorbents in the removal of unwanted materials such as acid and basic dyes, heavy metals, and phenolic compounds. Many studies on adsorption properties of various low cost adsorbent, such as agricultural waste and activated carbons based on agricultural waste have been reported in recent years. CONCLUSION: Studies have shown that date palm-based adsorbents are the most promising adsorbents for removing unwanted materials. No previous review is available where researchers can get an overview of the adsorption capacities of date palm-based adsorbent used for the adsorption of different pollutants. This review provides the recent literature demonstrating the usefulness of date palm biomass-based adsorbents in the adsorption of various pollutants.