Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families.

PURPOSE: Congenital fibrosis of extraocular muscles type 1 (CFEOM1), a classical subtype of CFEOM, is characterized by restrictive ophthalmoplegia and ptosis. It is mainly caused by aberrant neural innervation of the extraocular muscles. This study aimed to investigate the genetic characteristics and clinical manifestations of CFEOM1 in Chinese families. METHODS: The clinical data, including ocular examinations, magnetic resonance imaging (MRI), and surgical procedures of affected individuals from 16 Chinese CFEOM1 families, were collected. The genomic DNA of 16 probands and their family members were sequenced for causative KIF21A gene mutations. Linkage analysis using microsatellite markers across KIF21A was also conducted. RESULTS: Affected individuals were presented with bilateral non-progressive ptosis, restricted horizontal eye movement, fixed infraduction of both eyes, compensatory chin-up head position, and neuromuscular abnormalities. Three heterozygous KIF21A mutations, c.2860C > T (p.R954W) (in eight families), c.2861G > T (p.R954L) (in two families), and c.2861G > A (p.R954Q) (in two families) were identified, which implied that hotspot mutations were common in Chinese CFEOM1 families. Germline Mosaicism was likely to be the cause of affected individuals with asymptomatic parents without KIF21A mutations presented in the eight families. Two affected individuals underwent modified levator muscle complex suspension surgery and achieved a good result without any complications. CONCLUSION: Instead of evaluating the whole CFEOM1 gene variant, hotspot mutations could be given priority for screening. The occurrence of germline mosaicism has to be taken into account in genetic counseling. Patients with CFEOM1 who have ptosis may benefit from an innovative surgical procedure called modified levator muscle complex suspension.

Magnetic solid-phase extraction using polydopamine-coated magnetic multiwalled carbon nanotube composites coupled with high performance liquid chromatography for the determination of chlorophenols.

Polydopamine (PDA)-coated magnetic multiwalled carbon nanotube (M-MWCNT) composites were synthesized in two facile preparation steps, and were used as adsorbents for magnetic solid-phase extraction (MSPE) coupled with high-performance liquid chromatography (HPLC) for simultaneous extraction, enrichment and determination of five kinds of typical chlorophenols (CPs) in water samples. The as-prepared magnetic composites showed excellent magnetic properties and high thermal stability. Various main parameters influencing the extraction efficiency of MSPE were systematically investigated. Under the optimized MSPE-HPLC conditions, a high enrichment factor (EF) was obtained in the range of 85-112 for 2-chlorophenol (2-CP), 4-chlorophenol (4-CP), 2,6-dichlorophenol (2,6-DCP), 2,4-dichlorophenol (2,4-DCP) and 2,4,6-trichlorophenol (2,4,6-TCP). Good linearity was obtained in the range of 2.0-200 µg L-1 for 2-CP and 4-CP and 1.0-200 µg L-1 for 2,6-DCP, 2,4-DCP and 2,4,6-TCP, with a correlation coefficient (R2) higher than 0.9964. The limits of detection (LODs) and the limits of quantification (LOQs) were in the range of 0.10-0.31 µg L-1 and 0.35-1.03 µg L-1, respectively. The intraday and interday precisions evaluated using relative standard deviation (RSD) values were in the range of 1.05-2.25% and 1.88-2.83%, respectively. The validated MSPE-HPLC method was also successfully applied to analyze five kinds of CPs in tap water, lake water, river water and seawater samples, and satisfactory recoveries were obtained in the range of 76.87-106.5% with RSDs of 1.64-6.78%.

Polyethyleneimine-grafted collagen fiber as a carrier for cell immobilization.

Collagen fiber (CF), an abundant natural biopolymer, features many favorable properties that make it a potential carrier for cell immobilization. In the present investigation, CF was grafted with polyethyleneimine (PEI) using glutaraldehyde (GA) as the cross-linking agent, resulting in the formation of a novel CF based carrier (CF-PEI). The properties of CF-PEI as a carrier were evaluated by the immobilization of Microbacterium arborescens (CICC 20196), which has glucose isomerase (EC 5.3.1.5) activity. It was found that M. arborescens cells immobilized on CF-PEI exhibited higher glucose isomerization than those using activated carbon or anion exchange resin as the carriers. The Michaelis constant (K m) of the isomerization reaction for the CF-PEI-immobilized M. arborescens cells was 0.528 mol/L, which was slightly higher than that of free cells (0.473 mol/L). In addition, the apparent activation energies (E a) of free and immobilized cells on CF-PEI were almost the same at 60 kJ/mol. In an isomerization reaction of glucose to fructose in a fixed-bed reactor, CF-PEI-immobilized M. arborescens cells showed appreciable activity and operational stability. The corresponding isomerization ratio was as high as 41 % for 20 days, and the half-life was about 40 days.

Investigating the mechanism of Zn cross-linking of chitin in a mycelium-based leather substitute and its performance evaluation.

Mycelium-based leather substitutes with a three-dimensional reticulated structure have attracted attention owing to the negative environmental impacts of natural and synthetic leather. This study utilised Ganoderma lucidum mycelium to prepare a mycelium-based leather substitute with zinc cross-linking (MF-Zn) and evaluated its physicochemical properties and sensory performance; the conventional Cr3+ tanning method was used as reference. Results demonstrated that Zn2+ and Cr3+ formed cross-links with the -OH and -NHOCH3 groups in the polysaccharides of chitin, while Zn2+ selectively bonded to a fraction of -NH2 groups in cystine and phenylalanine. The mycelium-based leather substitute with Zn cross-linking exhibited impressive tensile strength and tear strength of 7.0 MPa and 16.4 kN/m, respectively, while demonstrating desirable organoleptic properties. The free radical-scavenging capacity of MF-Zn was assessed, revealing a DPPH radical and hydroxyl radical scavenging rates of 39.4% and 52.7%, respectively. By successfully investigating the cross-linking mechanism of mycelial fibres with Zn2+ and obtaining the stabilised mycelium-based leather substitute, this study establishes a fundamental basis for the development of sustainable leather substitutes, meeting the requirements and facilitating significant advancements in low-carbon leather substitute production.

Magnetic multi-template molecularly imprinted polymers for selective simultaneous extraction of chlorophenols followed by determination using HPLC.

Magnetic multi-template molecularly imprinted polymers (M-mt-MIPs) were successfully synthesized by surface imprinting and multi-template imprinting strategy, using polydopamine coated magnetic multi-walled carbon nanotubes as supporting materials, five typical chlorophenols (CPs) as templates, methacrylic acid as functional monomer and ethylene glycol dimethacrylate as cross-linker. Compared to non-imprinted polymers (NIPs), the as-prepared M-mt-MIPs showed high adsorption capacity (32.58‒80.63 mg g-1), rapid mass transfer and specific selectivity for the five targeted CPs, which were applied as magnetic solid-phase extraction (MSPE) adsorbents. Parameters affecting MSPE efficiency were detailed investigated, such as adsorbents dosage, sample pH, extraction time, type and volume of desorption solvent and salt effect. Combined with HPLC-DAD, a simple, rapid and sensitive method was established, showing good linearity (2‒200 µg L-1), low limits of detection (0.32‒0.49 µg L-1), and high enrichment factors (35.2‒108). The developed M-mt-MIPs-MSPE-HPLC method was applied to enrich and determine CPs in tannery wastewater, wet-blue and crust leather, and satisfactory spiking recoveries were attained in the range of 73.95‒109.7% with relative standard deviations (RSDs) of 2.13-8.48%. This study provided a new alternative material and method to rapid simultaneously extract and analyze low concentration of typical CPs in complicated matrices.

Mechanically Tough and Conductive Hydrogels Based on Gelatin and Z-Gln-Gly Generated by Microbial Transglutaminase.

Gelatin-based hydrogels with excellent mechanical properties and conductivities are desirable, but their fabrication is challenging. In this work, an innovative approach for the preparation of gelatin-based conductive hydrogels is presented that improves the mechanical and conductive properties of hydrogels by integrating Z-Gln-Gly into gelatin polymers via enzymatic crosslinking. In these hydrogels (Gel-TG-ZQG), dynamic π-π stacking interactions are created by the introduction of carbobenzoxy groups, which can increase the elasticity and toughness of the hydrogel and improve the conductivity sensitivity by forming effective electronic pathways. Moreover, the mechanical properties and conductivity of the obtained hydrogel can be controlled by tuning the molar ratio of Z-Gln-Gly to the primary amino groups in gelatin. The hydrogel with the optimal mechanical properties (Gel-TG-ZQG (0.25)) exhibits a high storage modulus, compressive strength, tensile strength, and elongation at break of 7.8 MPa at 10 °C, 0.15 MPa at 80% strain, 0.343 MPa, and 218.30%, respectively. The obtained Gel-TG-ZQG (0.25) strain sensor exhibits a short response/recovery time (260.37 ms/130.02 ms) and high sensitivity (0.138 kPa-1) in small pressure ranges (0-2.3 kPa). The Gel-TG-ZQG (0.25) hydrogel-based sensors can detect full-range human activities, such as swallowing, fist clenching, knee bending and finger pressing, with high sensitivity and stability, yielding highly reproducible and repeatable sensor responses. Additionally, the Gel-TG-ZQG hydrogels are noncytotoxic. All the results demonstrate that the Gel-TG-ZQG hydrogel has potential as a biosensor for wearable devices and health-monitoring systems.

Amino-Functionalized Silica@Resorcinol-Formaldehyde Nanocomposites for the Removal of Cr(VI) from Aqueous Solutions.

Amino-functionalized silica@resorcinol-formaldehyde nanocomposites (NH2-SiO2@RF) were synthesized for the removal of Cr(VI) from aqueous solutions using the sol-gel technique with two simple preparation steps, including the one-pot synthesis of SiO2@RF using the Stöber method and (3-aminopropyl)triethoxysilane (APTES) modification. The morphology, particle size, functional group, and thermal stability of the obtained nanocomposites were systematically characterized, with the results indicating a uniform sphericity with a particle size of 200 nm and high thermal stability. The adsorption results demonstrated that the preferred pH value was 2, and the data were well fitted with the Langmuir and Temkin isotherm models and quasi-second-order kinetic equation, indicating a high adsorption capacity. The maximum Cr(VI) adsorption capacity from the nonlinear form of the Langmuir model was 272.6 mg·g-1. The intra-particle diffusion model accurately described the adsorption of Cr(VI) onto NH2-SiO2@RF. The changes in Gibb's free energy, enthalpy, and entropy revealed that Cr(VI) adsorption onto NH2-SiO2@RF was a spontaneous and endothermic process. Furthermore, high selectivity was demonstrated in the material for the removal of Cr(VI) from commonly coexisting ions. The obtained nanocomposites had good regeneration properties and maintained a removal rate above 85% in the fifth adsorption-desorption experiments. Moreover, under the optimized adsorption conditions, the obtained nanocomposites were preliminarily applied to tannery wastewater, demonstrating an excellent removal effect, which indicates their potential application value.

The Preparation and Properties of Composite Hydrogels Based on Gelatin and (3-Aminopropyl) Trimethoxysilane Grafted Cellulose Nanocrystals Covalently Linked with Microbial Transglutaminase.

Mechanically enhanced gelatin-based composite hydrogels were developed in the presence of functionalized cellulose nanocrystals (CNCs) employing microbial transglutaminase (mTG) as a binding agent. In this work, the surfaces of CNCs were grafted with (3-Aminopropyl) trimethoxysilane with a NH2 functional group, and the success of CNCs' modification was verified by FTIR spectroscopy and XPS. The higher degree of modification in CNCs resulted in more covalent cross-linking and dispersibility within the gelatin matrix; thus, the as-prepared hydrogels showed significantly improved mechanical properties and thermo-stability, as revealed by dynamic rheological analysis, uniaxial compression tests and SEM. The biocompatibility of the obtained hydrogels was evaluated by the MTT method, and it was found that the grafted CNCs had no obvious inhibitory effect on cell proliferation. Hence, the mechanically enhanced gelatin-based hydrogels might have great potential in biomedical applications.

Preparation and characterization of enzymatically cross-linked gelatin/cellulose nanocrystal composite hydrogels.

Gelatin is an attractive hydrogel material because of its excellent biocompatibility and non-cytotoxicity, but poor mechanical properties of gelatin-based hydrogels become a big obstacle that limits their wide-spread application. To solve it, in this work, gelatin/cellulose nanocrystal composite hydrogels (Gel-TG-CNCs) were prepared using microbial transglutaminase (mTG) as the crosslinking catalyst and cellulose nanocrystals (CNCs) as reinforcements. The physicochemical properties of the composite hydrogels were investigated by thermogravimetric analysis (TGA), X-ray diffraction (XRD) and scanning electron microscopy (SEM). The dynamic rheological measurement and uniaxial compression test were performed to study the effects of mTG and CNC contents on the storage modulus and breaking strength of the as-prepared Gel-TG-CNCs. Results showed that the addition of CNCs and mTG could significantly increase the storage modulus and breaking strength of gelatin-based hydrogels, especially when added simultaneously. The breaking strength of Gel-TG-CNCs (2%) at 25 °C can reach 1000 g which is 30 times greater than pure gelatin hydrogels. The biocompatibility of the composite hydrogels was also investigated by the MTT method with Hela cells, and the results demonstrated that the composite hydrogels maintained excellent biocompatibility. With a combination of good biocompatibility and mechanical properties, the as-prepared Gel-TG-CNCs showed potential application value in the biomedical field.

Localization of the center of the intramuscular nerve dense region of the medial femoral muscles and the significance for blocking spasticity.

PURPOSE: To identify the body surface position and depth of the center of the intramuscular nerves dense region (CINDR) of the medial femoral muscles. METHODS: Utilizing twelve Chinese adult cadavers (six men and six women), with an age range from 35 to 75 (66.5±5.4) years, the body surface curves between the greater trochanter of the femur and the pubic tubercle and lateral femoral epicondyle were designated as horizontal (H) and longitudinal (L) reference lines, respectively. Sihler's staining was performed on one side of the medial femoral muscles to show the intramuscular nerve dense regions, and the contralateral CINDR was labeled with barium sulfate and scanned by computed tomography, and three-dimensional reconstruction was performed. The body surface projection point of CINDR was designated as P. Projection of P in the opposite direction was identified as P'. The intersection of the longitudinal line from P to line H, and that of the horizontal line from P to line L was designated as PH and PL, respectively. The percentage positions of PH and PL on the H and L lines and the depth of the CINDRs were determined under the Syngo system. RESULTS: The pectineus, gracilis, adductor longus, and adductor brevis muscles each possess one intramuscular nerve dense region; the adductor magnus muscle has two. The PH was located at 80.32%, 95.67%, 85.64%, 94.92%, 84.48%, and 88.83% of line H, respectively. PL was at 12.76%, 40.68%, 33.26%, 23.39%, 25.57%, and 35.29% of line L, respectively. The depth of CINDRs was at 17.58%, 27.89%, 23.05%, 30.45%, 34.09%, and 29.52% of PP' line, respectively. These percentage values are all means. No statistical difference was observed neither between the left and right sides nor between the male and female cadavers (P>0.05). CONCLUSION: These results may help improve the efficiency and efficacy of botulinum toxin A injection in the treatment of medial femoral muscle spasticity.

Combined anticalcification treatment of bovine pericardium with decellularization and hyaluronic acid derivative.

The objective of this work was to evaluate the effect of decellularization and hyaluronic acid derivative on the improvement of anticalcification of glutaraldehyde fixed bovine pericardium (GFBP) using a rat subcutaneous implantation model A cell extraction process was employed to remove the cells and cellular components from bovine pericardium (BP), leaving a framework of largely insoluble collagen. Then acellular BP was cross-linked by glutaraldehyde solution and treated with hyaluronic acid derivative (HA-ADH) which was obtained by coupling adipic dihydrazide (ADH) on-COOH of hyaluronic acid (HA). The results of in vivo calcification tests showed that the calcium content was decreased dramatically by decellularization alone (from 28.07 ± 18.87 to 2.44 ± 0.55 µg Ca/mg dry tissue after 8 weeks' implantation), and even less concentration was shown by the combination of HA derivative treatment and decellularization (GFaBP-HA group) (0.25 ± 0.08 µg Ca/mg dry tissue after 8 weeks' implantation). In addition, GFaBP-HA group not only presented a lower degree of calcification, but also showed lower ratios of Ca/P molar, which corresponded to amorphous calcium phosphates. The obtained results indicated that GFaBP-HA was a potential candidate for the manufacture of anticalcification bioprostheses.