Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome.

Background: KBG syndrome (KBGS, OMIM: 148050) is a rare genetic disorder characterized by macrodontia, short stature, skeletal abnormalities, and neurological manifestations. The objective of this study is to investigate a case of KBG syndrome caused by a novel frameshift mutation in ANKRD11.

Methods And Results: We present the case of an 18-year-old Chinese male exhibiting characteristic features including a triangular face, micrognathia, hypertelorism, macrodontia, bushy eyebrows, prominent ears, short stature, low hairline, delayed cognitive development, and scoliosis.

High modulus and strength polyurethane film synthesized from lignin-based polyol with various lignin contents and NCO/OH molar ratios.

This study explored the synthesis of lignin-polyol (LP) by liquefaction of Kraft lignin in polyethylene glycol and glycerol. LP23 (23 wt% lignin) and LP41 (41 wt% lignin) were obtained with remarkable liquefaction yields of 97.43 % and 93.

The causal relationship between autoimmune thyroid disorders and telomere length: A Mendelian randomization and colocalization study.

This study aimed to evaluate whether there is a causal relationship between autoimmune thyroid disorders (AITDs) and telomere length (TL) in the European population and whether there is reverse causality. In this study, Mendelian randomization (MR) and colocalization analysis were conducted to assess the potential causal relationship between AITDs and TL using summary statistics from large-scale genome-wide association studies, followed by analysis of the relationship between TL and thyroid stimulating hormone and free thyroxine (FT4) to help interpret the findings. The inverse variance weighted (IVW) method was used to estimate the causal estimates.

Preparation of light-colored bio-based particles by isocyanate-modified lignins and its application for tetracycline adsorption.

A practical method for the preparation of lignin derivatives-light-colored bio-based particles (LC-BP) via the modification of hexamethylene diisocyanate (HDI) is presented in this work. In the mixed EtOH/HO system, the change of solvent polarity induced the self-assembly of the lignosulfonate (LS) with the hydrophobic chromophores encapsulated inside the particles. The color of LS was reduced by the polymerization between the isocyanate groups (-N=C=O) of HDI and hydroxy groups of LS.

Association Between Educational Attainment and Thyroid Function: Results From Mendelian Randomization and the NHANES Study.

Context: Many observational studies have reported on the association between educational attainment (EA) and thyroid function, but the causal relationship remains unclear.

Objective: We aimed to obtain causal effects of EA on thyroid function and to quantify the mediating effects of modifiable risk factors.

Methods: Two-sample mendelian randomization (MR) was performed by using summary statistics from large genome-wide association studies (GWAS) to assess the effect of EA on thyroid function, including hypothyroidism, hyperthyroidism, thyrotropin (TSH), and free thyroxine (FT4).

Production of Cellulose Pulp and Lignin from High-Density Apple Wood Waste by Preimpregnation-Assisted Soda Cooking.

Apple wood waste (AWW), mainly tree trucks, is collectible lignocellulosic biomass from orchard rotation. The biorefinery of AWW is challenging because of the hard and dense structure. In the present work, chemical composition determination and microstructure observation was performed for the first time on AWW.

Association Between Systemic Lupus Erythematosus and Primary Hypothyroidism: Evidence from Complementary Genetic Methods.

Introduction: Systemic lupus erythematosus (SLE) and hypothyroidism often coexist in observational studies; however, the causal relationship between them remains controversial.

Methods: Complementary genetic approaches, including genetic correlation, Mendelian randomization (MR), and colocalization analysis, were conducted to assess the potential causal association between SLE and primary hypothyroidism using summary statistics from large-scale genome-wide association studies. The association between SLE and thyroid-stimulating hormone (TSH) was further analyzed to help interpret the findings.

Self-Assembly Preparation of Nano-Lignin/Cationic Polyacrylamide Complexes.

The present work describes the preparation of nano-lignin particles from calcium lignosulfonate (CL). The nano-lignin was fabricated from colloidal lignin-polyacrylamide complexes via self-assembly. The sizes of the nano-lignin particles were examined by dynamic light scattering (DLS) and scanning electron microscopy (SEM).

Separation of saccharides from prehydrolysis liquor of lignocellulose to upgrade dissolving pulp mill into biorefinery platform.

In this work, a competitive process consisting of polyelectrolyte flocculation, active carbon absorption, and ion exchange was developed for hemicelluloses-derived saccharides (HDSs) purification from prehydrolysis liquor (PHL) of lignocellulose. Results showed that colloidal lignin counted for 20% of non-saccharide compounds (NSCs) and could be eliminated by flocculation at 500mg/L polyaluminium chloride and 50mg/L anionic polyacrylamide. Active carbon was very effective for decoloration of flocculation-treated PHL, but showed limited absorption selectivity toward NSCs.

Separation of hemicellulose-derived saccharides from wood hydrolysate by lime and ion exchange resin.

A combined process of lime treatment and mixed bed ion exchange was proposed to separate hemicellulose-derived saccharides (HDS) from prehydrolysis liquor (PHL) of lignocellulose as value added products. The optimization of lime treatment achieved up to 44.2% removal of non-saccharide organic compounds (NSOC), mainly colloidal substances, with negligible HDS degradation at 0.

Evaluation energy efficiency of bioconversion knot rejects to ethanol in comparison to other thermochemically pretreated biomass.

Rejects from sulfite pulp mill that otherwise would be disposed of by incineration were converted to ethanol by a combined physical-biological process that was comprised of physical refining and simultaneous saccharification and fermentation (SSF). The energy efficiency was evaluated with comparison to thermochemically pretreated biomass, such as those pretreated by dilute acid (DA) and sulfite pretreatment to overcome recalcitrance of lignocelluloses (SPORL). It was observed that the structure deconstruction of rejects by physical refining was indispensable to effective bioconversion but more energy intensive than that of thermochemically pretreated biomass.