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Objective: The aim of this study was to analyze the related factors of obstructive sleep apnea hypopnea syndrome (OSAHS) that would affect early kidney injury in patients with hypertension (Hyp). Methods: A total of 457 Hyp patients with nocturnal snoring were selected for polysomnography (PSG). The patients were divided into four groups according to the apnea hypopnea index (AHI), and the related factors that would impact blood urea, creatinine, 24 hr urinary protein (24 hr UTP), 24 h urinary microalbuminuria and serum cystatin C (Cyst C) were analyzed in the groups. Results: Severe OSAHS (OR = 4.880, 95% CI = 1.577-15.099) was the influencing factor for 24 hr UTP; blood pressure control (OR = 2.335, 95% CI = 1.326-4.112) and Obesity (OR = 2.072, 95% CI = 1.236-3.474) were the influencing factors for 24 hr urinary microalbuminuria; age (OR = 1.996, 95% CI = 1.366-2.917), blood pressure control (OR = 2.895, 95% CI = 1.267-6.615) and severe OSAHS (OR = 6.093, 95% CI = 1.267-29.303) were the influencing factors for Cyst C. As for the Hyp patients associated with OSAHS, severe OSAHS were the influencing factors for 24 hr UTP; blood pressure control and Obesity were the influencing factors for 24 hr urinary microalbuminuria; age, blood pressure control and severe OSAHS were the influencing factors for Cyst C. Conclusions: OSAHS is a risk factor of early kidney injury. [ABSTRACT FROM AUTHOR]

An efficient one-pot, three-component synthesis of highly substituted bicyclic pyridines containing a ring-junction nitrogen, starting from simple and readily available materials, is described. Cyclocondensation of heterocyclic ketene aminals (HKAs), triethoxymethane, and active methylene compounds by refluxing under solvent-free and catalyst-free conditions, provided bicyclic pyridines in excellent yields. [ABSTRACT FROM AUTHOR]

We present an efficient and convenient synthesis of 3,8-dibromophenanthridine derivatives and their conjugated polymers and demonstrate that phenanthridine-containing conjugated polymers can be used as luminescent chemosensor materials. High molecular weight poly(phenanthridine-co-fluorene)s (P1, P2) and poly(phenanthridine-co-p-phenylene) (P3) were synthesized by palladium-catalyzed Suzuki−Miyaura−Schlüter polycondensation (SMSPC). These phenanthridine-containing polymers are of high quantum yields in solution and show reversible optical response to protonation and deprotonation of the phenanthridine rings. [ABSTRACT FROM AUTHOR]

A novel class of dumbbell-shaped dendritic molecules with a p-terphenylene core was synthesized, and their self-assembling properties were investigated. The incorporation of bulky dendritic wedges to the central stiff aromatic scaffolds could finely tune their solubility in many organic solvents. Unlike the self-assembly behavior of p-terphenylen-1,4′′-ylenebis(dodecanamide), the p-terphenylene cored different generation dendritic molecules could form gels in several kinds of organic solvents through a cooperative effect of the π−π stacking, hydrogen-bonding, and van der Waals forces. Interestingly, significant fluorescence enhancement was observed after gelation. Extensive investigations with atomic force microscopy (AFM), scanning electron microscopy (SEM), transmission electron microscopy (TEM), rheological measurements, UV−vis absorption spectroscopy, FT-IR spectroscopy, 1H NMR, and X-ray powder diffraction (XRD) revealed that these dendritic molecules self-assembled into elastically interpenetrating one-dimensional nanostructures in organogels. [ABSTRACT FROM AUTHOR]

Mechanofluorochromic polymers, which can indicate damage or excessive stress in highly polarized environments with a clearly perceptible optical signal, are potentially useful in a variety of exciting applications. However, most reported fluorochromic mechanophores exhibit poor color contrast and fluorescence penetration, or are irreversible in polarized phase after mechanical activation. Here, this challenge is tackled by designing and engineering a novel near-infrared (NIR) emissive, rhodanmin derived mechanophore (Rh-Co) in a kind of hydrogel composites. The ring-opened Rh-Co is unique in high molar extinction coefficient and bright NIR emission with such optical transition under force directly corresponding to covalent bond scission and reversibly switchable in an aqueous environment. The hydrogel composites thus can sensitively change their color from yellow to green and emit highly penetrated NIR fluorescence when different types of forces (tension, compression, and friction force) are applied, highlighting the potential applications of Rh-Co in biocompatible environments as a "force meter". [ABSTRACT FROM AUTHOR]

Objective: This study aimed to assess the predictive value of conventional magnetic resonance imaging (MRI) combined with radiomics in determining the nonperfused volume ratio (NPVR) following high-intensity focused ultrasound (HIFU) ablation for uterine fibroids. Methods and materials: A total of 216 symptomatic uterine fibroids in 216 women were subjected to HIFU ablation from October 2015 to March 2020. Baseline clinical and MR parameters acquired before and after HIFU ablation were analyzed, and the NPVR was calculated accordingly. Radiomics features were extracted using A.K. software on T2-weighted imaging (T2WI). The minimum redundancy and maximum relevancy (mRMR) method were used to refine the selected radiomics features. Then, multiple linear regression models, the Wilcoxon signed-rank test, and Spearman’s rank correlation and Bland–Altman analyses were conducted. Results: Conventional MRI combined with radiomics revealed the signal intensity on T2WI (X9), enhancement degree on T1-weighted imaging (T1WI) (X11), uterine fibroid location (X4), wavelet_glszm_SizeZoneNonUniformity first order (X12) and wavelet_HHH_firstorder_Skewness (X13) negatively affected the NPVR. The resulting regression equation was NPVR = 104.030 − 11.886 × X9 − 5.459 × X11 − 2.776 × X4 − 0.20 × X12 − 16.913 × X13. The adjusted R² values of the conventional MRI model and combined model were 0.385 and 0.408, respectively, and the two fitted models were statistically significant (p < 0.05). No significant differences were observed between the predicted NPVR value [81 (71, 91) %] of the combined model and the actual NPVR value [89 (77, 97) %] (p > 0.05). In addition, the predicted NPVR was correlated with the actual NPVR (r = 0.655, p < 0.001). Conclusions: The efficiency of the combined model was better than that of the conventional MRI model in predicting the NPVR following HIFU ablation for uterine fibroids. Radiomics is an important supplemental modality to conventional MRI. [ABSTRACT FROM AUTHOR]

N,N'-Bicarbazole with almost spatially vertical structure was synthesized by a facile method and was demonstrated as a versatile building block for conjugated microporous polymers (CMPs) through transition metal catalyzed coupling polymerizations including Yamamoto, Suzuki, and Sonogashira polymerizations. The porosities and morphologies of four N,N'-bicarbazole-based CMPs were systematically studied and compared. With high surface area, good thermal stability and microporous structure, the CMP synthesized by Yamamoto polymerization exhibited excellent adsorption capacities of CO2 and organic dyes, and the maximum adsorption capacity of methylene blue (MB) in water reached up to 1016 mg g-1. The good adsorption properties of N,N'-bicarbazole CMPs could be a good candidate for potential applications in water purification and treatment. [ABSTRACT FROM AUTHOR]

Background: Trimethylaminuria (TMAU) is a genetic disorder whereby people cannot convert trimethylamine (TMA) to its oxidized form (TMAO), a process that requires the liver enzyme FMO3. Loss-of-function variants in the FMO3 gene are a known cause of TMAU. In addition to the inability to metabolize TMA precursors like choline, patients often emit a characteristic odor because while TMAO is odorless, TMA has a fishy smell. The Monell Chemical Senses Center is a research institute with a program to evaluate people with odor complaints for TMAU. Methods: Here we evaluated ten subjects by (1) odor evaluation by a trained sensory panel, (2) analysis of their urine concentration of TMA relative to TMAO before and after choline ingestion, and (3) whole exome sequencing as well as subsequent variant analysis of all ten samples to investigate the genetics of TMAU. Results: While all subjects reported they often emitted a fish-like odor, none had this malodor during sensory evaluation. However, all were impaired in their ability to produce >90% TMAO/TMA in their urine and thus met the criteria for TMAU. To probe for genetic causes, the exome of each subject was sequenced, and variants were filtered by genes with a known (FMO3) or expected effect on TMA metabolism function (other oxidoreductases). We filtered the remaining variants by allele frequency and predicated functional effects. We identified one subject that had a rare loss-of-function FMO3 variant and six with more common decreased-function variants. In other oxidoreductases genes, five subjects had four novel rare single-nucleotide polymorphisms as well as one rare insertion/deletion. Novel in this context means no investigators have previously linked these variants to TMAU although they are in dbSNP. Conclusions: Thus, variants in genes other than FMO3 may cause TMAU and the genetic variants identified here serve as a starting point for future studies of impaired TMA metabolism. [ABSTRACT FROM AUTHOR]

A novel type of π-extended 1,10-phenanthroline, specifically with fused thiophene groups at the less exploited 3-, 4-, 7-, and 8-positions of the phenanthroline ring, and its conjugated polymers were designed and synthesized. The current developed route is based on the Bischler-Napieralski cyclization of the (1,2-phenylene)diamide precursor, which offers a facile and versatile strategy for preparing soluble and well-defined 1,10-phenanthroline derivatives and their analogues. High molecular weight poly(phenanthroline-co-fluorene)s with good solubility in common organic solvents or water were prepared by palladium-catalyzed Suzuki-Miyaura-Schlüter polycondensation. The optical responsive properties of these thiophene-fused 1,10-phenanthroline-containing polymers have demonstrated these polymers could be a good candidate for potential applications as luminescent chemosensor materials thanks to the specific repeating unit along the backbone. [ABSTRACT FROM AUTHOR]

Background: Hereditary ataxias are a heterogeneous group of neurodegenerative disorders, where exome sequencing may become an important diagnostic tool to solve clinically or genetically complex cases. Methods: We describe an Italian family in which three sisters were affected by ataxia with postural/intentional myoclonus and involuntary movements at onset, which persisted during the disease. Oculomotor apraxia was absent. Clinical and genetic data did not allow us to exclude autosomal dominant or recessive inheritance and suggest a disease gene. Results: Exome sequencing identified a homozygous c.6292C > T (p.Arg2098*) mutation in SETX and a heterozygous c.346G > A (p.Gly116Arg) mutation in AFG3L2 shared by all three affected individuals. A fourth sister (II.7) had subclinical myoclonic jerks at proximal upper limbs and perioral district, confirmed by electrophysiology, and carried the p.Gly116Arg change. Three siblings were healthy. Pathogenicity prediction and a yeast-functional assay suggested p.Gly116Arg impaired m-AAA (ATPases associated with various cellular activities) complex function. Conclusions: Exome sequencing is a powerful tool in identifying disease genes. We identified an atypical form of Ataxia with Oculoapraxia type 2 (AOA2) with myoclonus at onset associated with the c.6292C > T (p.Arg2098*) homozygous mutation. Because the same genotype was described in six cases from a Tunisian family with a typical AOA2 without myoclonus, we speculate this latter feature is associated with a second mutated gene, namely AFG3L2 (p.Gly116Arg variant). We suggest that variant phenotypes may be due to the combined effect of different mutated genes associated to ataxia or related disorders, that will become more apparent as the costs of exome sequencing progressively will reduce, amplifying its diagnostics use, and meanwhile proposing significant challenges in the interpretation of the data. [ABSTRACT FROM AUTHOR]

Telomerase is a ribonucleoprotein enzyme that is necessary for overcoming telomere shortening in human germ and stem cells. Mutations in telomerase or other telomere-maintenance proteins can lead to diseases characterized by depletion of hematopoietic stem cells and bone marrow failure (BMF). Telomerase localization to telomeres requires an interaction with a region on the surface of the telomere-binding protein TPP1 known as the TEL patch. Here, we identify a family with aplastic anemia and other related hematopoietic disorders in which a 1-amino-acid deletion in the TEL patch of TPP1 (AK170) segregates with disease. All family members carrying this mutation, but not those with wild-type TPP1, have short telomeres. When introduced into 293T cells, TPP1 with the AK170 mutation is able to localize to telomeres but fails to recruit telomerase to telomeres, supporting a causal relationship between this TPP1 mutation and bone marrow disorders. ACDTTPP1 is thus a newly identified telomere-related gene in which mutations cause aplastic anemia and related BMF disorders. [ABSTRACT FROM AUTHOR]

A homogeneous and transparent titania (TiO2) sol with nanosized anatase TiO2 particles was prepared by hydrothermal synthesis method. The transmission electron microscope and X-ray diffraction were used to characterize the structure and morphology of particulates in the TiO2 sol and purchased TiO2 powder. The results show that the homogeneous anatase crystalline phase was formed and the size of the spindle-like particle in sol was about 20nm in width and 150nm in average length, and the particulates of the purchased powder were globular-like about 50nm in diameter. In addition, a consistent set of in vitro experimental protocols was used to study the effects of nano-TiO2 sol as prepared and nano-TiO2 powder on mouse peritoneal macrophage. The cytotoxicity tests in vitro indicate that, with the increasing of TiO2 sol concentration contaminated with the cells, the relative proliferation rate of macrophage cells was improved slightly after the cells contaminated for 24 h, but it reduced rapidly after contaminated for 48 h. The purchased nano-TiO2 powder inhibited the growth of the cells obviously as cultivating with macrophage both for 24 h and 48 h. [ABSTRACT FROM AUTHOR]