Effect of water and fertilization management on Cd immobilization and bioavailability in Cd-polluted paddy soil.

The field trial was conducted to investigate remediation effects of two alkaline fertilizers and three water management techniques on Cd contaminated paddy soil. The results revealed downward trend of soil pH and EC during growth period of rice. The treatment of organic fertilizer has indicated high pH and organic matter than treatment of calcium magnesium phosphate fertilizer.

Effect of plant extracts and citric acid on phytoremediation of metal-contaminated soil.

Application of activating agents can significantly improve efficiency of plants for remediation of soils contaminated by heavy metals, however, damage to soil and plants limits application of traditional activating agents. The aim of our experiments is to select an efficient,green and low-cost activating agent to improve efficiency of plant extraction technology. In this study, contaminated soil was remediated by Sedum alfredii.

Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family.

Background Mucolipidosis II is a rare inherited metabolic disorder characterized by multiple pathologies including coarse facial features, thickened skin, dysostosis multiplex, and skeletal abnormalities. The disorder results due to variants in GNPTAB leading to reduced activity of the enzyme GlcNAc-1-phosphotransferase (GlcNAc-PT). Methods In the present study, a consanguineous Pakistani family was diagnosed with MLII based on clinical and biochemical examination.

Bioavailability and Speciation of Heavy Metals in Polluted Soil as Alleviated by Different Types of Biochars.

Biochar is an important material for remediation of contaminated soils, however, different biochars have variable effects on bioavailability of heavy metals. This experiment revealed that peanut shell biochar (PSB) has highest reduction of 78% concentration of Pb in plant roots. The maize straw biochar (MSB) has significantly decreased Zn and Cd concentration (mg/kg dry weight) in Chinese cabbage than other treatments of biochars.

Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing.

Background: Mucolipidosis III gamma (MLIIIγ) is a rare autosomal recessive disorder characterized by radiographic evidence of mild-to-moderate dysostosis multiplex, progressive joint stiffness and pain, scoliosis, and normal to mildly impaired cognitive development. Cardiac valve involvement and respiratory complications can be significant. MLIIIγ is caused by mutations in the GNPTG, which encodes the γ subunit of the enzyme N-acetylglucosamine-1-phosphotransferase.

Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family.

Autosomal recessive osteopetrosis is a severe fatal disorder with an average incidence of around 1:250,000. It is diagnosed soon after birth or within the 1st year of life with severe symptoms of abnormal bone remodelling. This study was aimed to identify the underlying genetic cause of the disease in a Pakistani family segregating infantile malignant osteopetrosis in autosomal recessive pattern.

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.

Background: Congenital generalized lipodystrophy (CGL) also known as Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a genetically heterogeneous disorder characterized by loss of adipose tissues, Acanthosis nigricans, diabetes mellitus, muscular hypertrophy, hepatomegaly and hypertriglyceridemia. There are four subclinical phenotypes of CGL (CGL1-4) and mutations in four genes AGPAT2, BSCL2, CAV1 and PTRF have been assigned to each type.

Methods: The study included clinical and molecular investigations of CGL disease in a consanguineous Pakistani family.