Amendment of Sargassum oligocystum bio-char with MnFe2O4 and lanthanum MOF obtained from PET waste for fluoride removal: A comparative study.

The use of biomass and waste to produce adsorbent reduces the cost of water treatment. The bio-char of Sargassum oligocystum (BCSO) was modified with MnFe2O4 magnetic particles and La-metal organic framework (MOF) to generate an efficient adsorbent (BCSO/MnFe2O4@La-MOF) for fluoride ions (F-) removal from aqueous solutions. The performance of BCSO/MnFe2O4@La-MOF was compared with BCSO/MnFe2O4 and BCSO. The characteristics of the adsorbents were investigated using various techniques, which revealed that the magnetic composites were well-synthesized and exhibited superparamagnetic properties. The maximum adsorption efficiencies (BCSO: 97.84%, BCSO/MnFe2O4: 97.85%, and BCSO/MnFe2O4@La-MOF: 99.36%) were achieved under specific conditions of pH 4, F- concentration of 10 mg/L, and adsorbent dosage of 3, 1.5, and 1 g/L for BCSO, BCSO/MnFe2O4, and BCSO/MnFe2O4@La-MOF, respectively. The results demonstrated that the experimental data adheres to a pseudo-second-order kinetic model. The enthalpy, entropy, and Gibbs free energy were determined to be negative; thus, the F- adsorption was exothermic and spontaneous in the range of 25-50 °C. The equilibrium data of the process exhibited conformity with the Langmuir model. The maximum adsorption capacities of F- ions were determined as 10.267 mg/g for BCSO, 14.903 mg/g for the BCSO/MnFe2O4, and 31.948 mg/g for BCSO/MnFe2O4@La-MOF. The KF and AT values for the F- adsorption were obtained at 21.03 mg/g (L/mg)1/n and 100 × 10+9 L/g, indicating the pronounced affinity of the BCSO/MnFe2O4@La-MOF towards F- than other samples. The significant potential of the BCSO/MnFe2O4@La-MOF magnetic composite for F- removal from industrial wastewater, makes it suitable for repeated utilization in the adsorption process.

Enhancing fluoride ion removal from aqueous solutions and glass manufacturing wastewater using modified orange peel biochar magnetic composite with MIL-53.

In this study, we developed new adsorbents derived from orange peel biochar (BCOP) and enhanced them with CoFe2O4 magnetic nanoparticles (BCOP/CoFe2O4) and MIL-53(Al) (BCOP/CoFe2O4/MIL-53(Al)). These adsorbents were utilized to remove fluoride (FL) ions from aqueous solutions. We analyzed the properties of these adsorbents using a range of techniques, including FTIR, XRD, SEM, EDX-Map, VSM, Raman spectroscopy, and BET. Our findings indicate that the components interact effectively with one another. Specifically, the BCOP/CoFe2O4/MIL-53(Al) sample exhibited a specific surface area of 196.430 m2/g and a magnetic saturation value of 9.704 emu/g. The maximum FL ion adsorption capacities for BCOP, BCOP/CoFe2O4, and BCOP/CoFe2O4/MIL-53(Al) were 7.618, 16.330, and 37.320 mg/g, respectively, indicating that the modifications significantly enhanced the adsorption capacity. The optimum fluoride ion removal rates using BCOP, BCOP/CoFe2O4, and BCOP/CoFe2O4/MIL-53(Al) were 97.88%, 98.23%, and 99.06%, respectively, at adsorbent doses of 2.5, 1.5, and 0.8 g/L, contact times of 90, 70, and 50 minutes, pH 4, temperature 50°C, and a FL concentration of 10 mg/L. Thermodynamic studies revealed that the adsorption process was spontaneous and endothermic, with increased randomness between the adsorbent and fluoride ions. Kinetic analyses showed that fluoride ion adsorption by BCOP/CoFe2O4/MIL-53(Al) followed a pseudo-second-order (PSO) model, while BCOP and BCOP/CoFe2O4 followed a pseudo-first-order (PFO) model. Additionally, the equilibrium data for fluoride ion adsorption on BCOP/CoFe2O4/MIL-53(Al) adhered to the Freundlich model, whereas the other samples conformed to the Langmuir model. The study evaluates the effectiveness of BCOP, BCOP/CoFe2O4, and BCOP/CoFe2O4/MIL-53(Al) in removing FL ions from glass manufacturing wastewater, highlighting the superior performance of the magnetic composite due to its enhanced surface area and functional groups. Notably, the adsorbents demonstrated good regenerative capabilities, maintaining high performance over multiple adsorption cycles.

KIF3B gene silent variant leading to sperm morphology and motility defects and male infertility†.

Sperm structural and functi onal defects are leading causes of male infertility. Patients with immotile sperm disorders suffer from axoneme failure and show a significant reduction in sperm count. The kinesin family member 3B (KIF3B) is one of the genes involved in the proper formation of sperm with a critical role in intraflagellar and intramanchette transport. A part of exon 2 and exons 3-5 of the KIF3B encodes a protein coiled-coil domain that interacts with intraflagellar transport 20 (IFT20) from the intraflagellar transport protein complex. In the present study, the coding region of KIF3B coiled-coil domain was assessed in 88 oligoasthenoteratozoospermic (OAT) patients, and the protein expression was evaluated in the mature spermatozoa of the case and control groups using immunocytochemistry and western blotting. According to the results, there was no genetic variation in the exons 3-5 of the KIF3B, but a new A>T variant was identified within the exon 2 in 30 patients, where nothing was detected in the control group. In contrast to healthy individuals, significantly reduced protein expression was observable in oligoasthenoteratozoospermic patients carrying variation where protein organization was disarranged, especially in the principal piece and midpiece of the sperm tail. Besides, the protein expression level was lower in the patients' samples compared to that of the control group. According to the results of the present study the KIF3B gene variation as well as lower protein expression leads to defects in sperm morphology and motility and consequently to male infertility.

A missense mutation in NR5A1 causing female to male sex reversal: A case report.

Testicular disorder of sex development (TDSD) is a rare condition, characterised by a female karyotype, male phenotype, small testes and cryptorchidism. Only a few studies have investigated the genetic causes of male sex reversal. This is the clinical report of an Iranian 46,XX patient presented with TDSD and associated with hypospadias. Whole-exome sequencing (WES) of the patient ascertained the heterozygous missense variant (c.274C>T) in the NR5A1 gene, resulting in a substitution of arginine with tryptophan. The arginine 92 residue was located in a highly conserved region of steroidogenic factor 1 (SF1), which is crucial for its interaction with DNA. Our finding is in line with previous reports, which highlighted the role of p.(Arg92Trp) variant in TDSD individuals. As far as we are aware, this is the first report of TDSD with p.(Arg92Trp) variant in the Iranian population.

Y chromosome is moving out of sex determination shadow.

Although sex hormones play a key role in sex differences in susceptibility, severity, outcomes, and response to therapy of different diseases, sex chromosomes are also increasingly recognized as an important factor. Studies demonstrated that the Y chromosome is not a 'genetic wasteland' and can be a useful genetic marker for interpreting various male-specific physiological and pathophysiological characteristics. Y chromosome harbors male­specific genes, which either solely or in cooperation with their X-counterpart, and independent or in conjunction with sex hormones have a considerable impact on basic physiology and disease mechanisms in most or all tissues development. Furthermore, loss of Y chromosome and/or aberrant expression of Y chromosome genes cause sex differences in disease mechanisms. With the launch of the human proteome project (HPP), the association of Y chromosome proteins with pathological conditions has been increasingly explored. In this review, the involvement of Y chromosome genes in male-specific diseases such as prostate cancer and the cases that are more prevalent in men, such as cardiovascular disease, neurological disease, and cancers, has been highlighted. Understanding the molecular mechanisms underlying Y chromosome-related diseases can have a significant impact on the prevention, diagnosis, and treatment of diseases.

Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.

Missense variants in the RNA-helicase DHX37 are associated with either 46,XY gonadal dysgenesis or 46,XY testicular regression syndrome (TRS). DHX37 is required for ribosome biogenesis, and this subgroup of XY DSD is a new human ribosomopathy. In a cohort of 140 individuals with 46,XY DSD, we identified 7 children with either 46,XY complete gonadal dysgenesis or 46,XY TRS carrying rare or novel DHX37 variants. A novel p.R390H variant within the RecA1 domain was identified in a girl with complete gonadal dysgenesis. A paternally inherited p.R487H variant, previously associated with a recessive congenital developmental syndrome, was carried by a boy with a syndromic form of 46,XY DSD. His phenotype may be explained in part by a novel homozygous loss-of-function variant in the NGLY1 gene, which causes a congenital disorder of deglycosylation. Remarkably, a homozygous p.T477H variant was identified in a boy with TRS. His fertile father had unilateral testicular regression with typical male genital development. This expands the DSD phenotypes associated with DHX37. Structural analysis of all variants predicted deleterious effects on helicase function. Similar to all other known ribosomopathies, the mechanism of pathogenesis is unknown.