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Background: Treacher Collins Ι syndrome (TCS1, OMIM:154500) is an autosomal dominant disease with a series of clinical manifestations such as craniofacial dysplasia including eye and ear abnormalities, small jaw deformity, cleft lip, as well as repeated respiratory tract infection and conductive hearing loss. Two cases of Treacher Collins syndrome with TCOF1(OMIM:606847) gene variations were reported in the article, with clinical characteristics, gene variants and the etiology. Methods: The clinical data of two patients with Treacher Collins syndrome caused by TCOF1 gene variation were retrospectively analyzed. The whole exome sequencing (WES) was performed to detect the pathogenic variants of TCOF1 gene in the patients, and the verification of variants were confirmed by Sanger sequencing. Results: Proband 1 presented with bilateral craniofacial deformities, conductive hearing loss and recurrent respiratory tract infection. Proband 2 showed bilateral craniofacial malformations with cleft palate, which harbored similar manifestations in her family. She died soon after birth due to dyspnea and feeding difficulties. WES identified two novel pathogenic variants of TCOF1 gene in two probands, each with one variant. According to the American College of Medical Genetics and Genomics, the heterozygous variation NM_001371623.1: c.877del (p. Ala293Profs*34) of TCOF1 gene was detected in Proband 1, which was evaluated as a likely pathogenic (LP) and de novo variant. Another variant found in Proband 2 was NM_001135243.1: c.1660_1661del (p. D554Qfs*3) heterozygous variation, which was evaluated as a pathogenic variation and the variant inherited from the mother. To date, the two variants have not been reported before. Conclusion: Our study found two novel pathogenic variants of TCOF1 gene and clarified the etiology of Treacher Collins syndrome. We also enriched the phenotypic spectrum of Treacher Collins syndrome and TCOF1 gene variation spectrum in the Chinese population, and provided the basis for clinical diagnosis, treatment and genetic counseling. [ABSTRACT FROM AUTHOR]

Objective: Olecranon osteotomy and paratricipital approaches were widely used in the treatment of type C distal humerus fracture but some disadvantages exist, so a combined medial and lateral approach was designed. The objective of this study was to investigate and compare the clinical outcomes of combined medial and lateral approach with the paratricipital approach in open reduction and internal fixation of type C distal humerus fractures. Methods: From May 2018 to April 2020, 37 patients with type C distal humerus fracture who accepted open reduction and internal fixation in our hospital were enrolled in this study. All cases were randomly divided into two groups according to the surgical approach: combined medial and lateral approach group (19 cases), paratricipital approach group (18 cases). All of the patients received open reduction and double vertical plates fixation. The operation and follow‐up indexes, including operation time, blood loss, incision length, triceps muscle strength, flexion‐extension arc of elbow and forearm rotation arc, were recorded and compared. Caja score was used to assess the quality of fractures reduction. Mayo Elbow Performance Score (MEPS) was used to evaluate the elbow function in the follow‐up. Complications such as incision infection, ulnar nerve injury, degenerative osteoarthritis, and heterotopic ossification were analyzed. Results: The differences in age, gender, and AO classification of fractures between two groups were not statistically significant (p > 0.05). The sum of medial and lateral incision length of combined approach group was longer than the midline incision of paratricipital approach group (15.4 ± 0.8 vs. 14.6 ± 0.8, p < 0.05), but there was no significant difference in operation time (103.5 ± 10.2 vs. 106.0 ± 8.8, p > 0.05), blood loss (71.3 ± 24.5 vs. 72.8 ± 24.6, p > 0.05), and Caja score (16.05 ± 5.67 vs. 15.56 ± 5.66, p > 0.05). During the follow‐up, the MEPS of combined approach group was higher than that of paratricipital approach group at 3 months postoperatively (80.5 ± 5.7 vs. 68.9 ± 8.1, p < 0.05), but there was no significant difference in MEPS at 6 months postoperatively (83.9 ± 6.6 vs. 79.7 ± 7.0, p > 0.05) and at the last follow‐up (86.8 ± 7.1 vs. 86.9 ± 7.7, p > 0.05) between the two groups. There was no significant difference in triceps muscle strength (p > 0.05), flexion‐extension arc (126.8 ± 5.3 vs. 128.9 ± 6.0, p > 0.05), and forearm rotation arc (163.2 ± 5.3 vs. 163.6 ± 4.8, p > 0.05) at the last follow‐up. Although the incidence of complication of combined approach group (15.8%) was lower than that of paratricipital approach group (22.2%), the difference was not statistically significant (p > 0.05). Conclusions: The combined medial and lateral approach was an effective and safe way of open reduction and internal fixation for type C distal humerus fractures. Compared with the paratricipital approach, the combined medial and lateral approach could restore the elbow function more quickly postoperatively, and the long‐term results were comparable. [ABSTRACT FROM AUTHOR]

Objective: To compare the clinical efficacy of performing simple plate fixation with that using a plate combined with fracture end fixation to investigate the necessity of fracture end fixation outside the plate in cases of oblique fracture of the middle clavicle. Methods: This was a retrospective follow‐up study of patients with middle clavicle oblique fractures (Robinson types 2A1 and 2A2) between 2015 and 2020. Patients were divided into two groups according to their treatment options: the simple plate fixation (SPF) group (n = 79; 43 men and 36 women; average age, 46.37 ± 14.54 years) and the plate combined with fracture local fixation (PLFP) group (n = 81; 36 men and 45 women; average age, 48.42 ± 12.55 years). Intraoperative blood loss, operation time, postoperative fracture healing time, postoperative shoulder function score (Constant–Murley and disabilities of the arm, shoulder, and hand [DASH] scores), clinical complications, and postoperative subjective satisfaction were compared between the two groups. Results: One hundred sixty patients with a sufficient follow‐up period were included in the final analysis: 79 in the SPF group (follow‐up time: 16.24 ± 3.94 months) and 81 in the PLFP group (follow‐up time: 16.15 ± 3.43 months). Age, sex, body mass index, follow‐up duration, fracture classification, and cause of injury were not significantly different between the two groups. There was no significant difference in blood loss, Constant–Murley and DASH scores, follow‐up period, and postoperative subjective satisfaction between the two groups (P > 0.05). The fracture healing time was shorter in the PLFP group than in the SPF group (4.41 ± 0.99 vs. 4.87 ± 1.60 months, P < 0.05), but the operation duration was longer in the PLFP group than in the SPF group (65.48 ± 16.48 min, P < 0.05). There were seven (complication rate, 8.86%) and five (complication rate, 6.17%) cases that had complications in the SPF and PLFP groups, respectively. There was no significant difference in the complication rates between the two groups (P > 0.05). Conclusion: Although the healing time was shorter in the PLFP group than in the SPF group, the clinical efficiency of the two methods in the treatment of oblique fracture of the middle clavicle was similar. [ABSTRACT FROM AUTHOR]

Cimicifuga dahurica (Turcz.) Maxim, which is also regarded as the main origin of "Shengma" in the Chinese Pharmacopoeia, has been used as a cooling and detoxification agent for thousands of years. Our previous phytochemical investigations of C. dahurica extracts (CDEs) led to the isolation of a series of 9,19‐cycloalkane triterpenoids and phenolic acids showing a potential anti‐inflammatory activity. However, the chemical profiling of CDEs and the material basis of its anti‐inflammatory effect in vivo has not been clarified. In the present study, the CDE chemical profile and prototype components in rat plasma were identified via ultra‐performance liquid chromatography coupled with quadrupole time‐of‐flight mass spectrometry. As a result, a total of 106 components were identified or tentatively characterized in CDEs, including 54 triterpenoids, 35 phenolic acids, eight amides and nine other type constituents (39 compounds were confirmed with the reference standards). In addition, 20 prototype components (15 triterpenoids and five phenolic acids) were identified in rat plasma, which potentially related to the anti‐inflammatory effects of CDEs. Moreover, the anti‐inflammatory activities of the main prototype components were further evaluated by their inhibitory effects on the production of NO, as well as the expressions of iNOS and COX‐2 in lipopolysaccharide‐stimulated RAW264.7 cells, which indicated that 9,19‐cycloalkane triterpenoids may play an anti‐inflammatory role by down‐regulating the expression of iNOS. [ABSTRACT FROM AUTHOR]

Objective: To investigate the factors, surgical treatment methods and clinical effect of internal fixation failure of intertrochanteric and subtrochanteric fractures. Methods: From June 2015 to May 2019, arthroplasty and internal fixation revision were used to treat 18 cases of internal fixation failure of intertrochanteric and subtrochanteric fractures. There were 10 males and eight females, with an average age of 67.3 years (38–92 years). The 16 cases of initial intertrochanteric fractures were classified according to AO/OTA:13 cases of A2 and 3 cases of A3, the other 2 cases were subtrochanteric fractures (Seinsheimer type IV). The internal fixation failure was treated with total hip arthroplasty (6 cases), bipolar hemiarthroplasty (4 cases), revision with proximal femoral lockingplate (4 cases) and extend intramedullary nail (4 cases). Results: All patients were followed up for an average of 24.7 months (range, 12 to 36 months). The average operative time was 111.4 min (range, 72 to 146 min) and the average intraoperative blood loss was 403.6 mL (range, 200 to 650 mL). The average time of fracture union was 6.9 months (range, 5 to 9 months) for cases of internal fixation revision. The operative time of the arthroplasty group was shorter than the revision group (P < 0.001), and the intraoperative blood loss of the arthroplasty group was less than the revision group (P = 0.001). The affected limb shortening of postoperative (0.21 ± 0.19 cm) was better than preoperative (2.01 ± 0.60 cm) (P < 0.001), while the limb shortening of the arthroplasty group (0.11 ± 0.21 cm) was less than the revision group (0.33 ± 0.09 cm) (P = 0.015). At the last follow‐up, all injured limbs regained walking function, and the Harris hip score was 81.3 ± 9.4 points. The Harris score of postoperative was better than preoperative (33.4 ± 5.9 points) (P < 0.001), while there were no significant differences between the arthroplasty group and the revision group at 3 months (76.5 ± 8.5 vs 71.1 ± 10.6, P = 0.249), 6 months (80.9 ± 7.9 vs 78.9 ± 12.9,P = 0.687) postoperative and the last follow‐up (80.5 ± 8.3 vs 82.3 ± 11.7, P = 0.716) respectively. Conclusion: For internal fixation failure of peritrochanteric fractures, young patients could accept internal fixation revision to restore normal anatomical structure, correct varus deformity and autograft; while elderly patients and patients with damaged femoral head could be treated with arthroplasty to restore walking function. [ABSTRACT FROM AUTHOR]

Jin‐hong tablets (JHTs), a well‐known traditional Chinese patent medicine (TCPM), have been effectively used for the treatment of chronic superficial gastritis (CSG). The metabolic profile of TCPMs is performed to determine their bioactive components. In this study, a five‐step strategy based on ultra‐performance liquid chromatography coupled with quadrupole time‐of‐flight tandem mass spectrometry and metabolynx™ software combined with mass defect filter technique was developed to delineate the metabolic profile of JHT in vivo. As a result, a total of 163 JHT‐related xenobiotics (38 prototypes and 125 metabolites) were identified or tentatively characterized in rat biological samples, and the phase I and II metabolism processes mainly included demethylation, hydroxylation, sulfation, and glucuronidation. In addition, after oral administration of JHT, a large amount of alkaloid‐related ingredients was detected in rat plasma samples, indicating that alkaloids may play an important role in the treatment of CSG with JHT. This study is beneficial for understanding the JHT's in vivo metabolic profiles and characteristics, which helps to reveal its in vivo effective components and provides a solid basis for further studies on its functional mechanism. [ABSTRACT FROM AUTHOR]

The deformation and failure of the surrounding rock mass is a key issue during the construction of large‐scale underground powerhouse, and large discontinuities are likely to cause this problem in the presence of complex geological structures. This article takes the right bank underground powerhouse of the Baihetan Hydropower Station as a case study. In this case, deformation mutation of the surrounding rock mass occurred in the south section of the main powerhouse, with the maximum deformation reaching 178 mm, and the deformation and failure of different parts showed differences. A comprehensive study integrating field survey, site monitoring, laboratory test and numerical simulation was carried out. By field survey and monitoring, characteristics of deformation and failure are described, and the spatiotemporal difference in deformation is analysed. The stress evolution during excavation is studied based on numerical simulations, the mechanical response of rock is derived through laboratory tests, and the mechanism of spatiotemporal difference is revealed. The results indicate that the main reason for the spatiotemporal difference is the presence of slightly inclining interlayer shear zone C4. In the south section, the excavation‐induced stress concentration at the arch was enhanced due to C4, with the maximum principal stress exceeding 70 MPa, and the high compressive stress here triggered the deformation mutation of surrounding rock mass. After undergoing a stress path from concentration to unloading, the surrounding rock mass at the downstream sidewall was seriously damaged, and its deformation also mutated under approximately vertical stress. The mutation resulted in the uneven spatial distribution, large increment and time‐dependent feature of deformation. [ABSTRACT FROM AUTHOR]

Abstract: Cadmium (Cd) as a non‐essential toxic metal has become one of the seriously environmental problems. Overload of Cd into plant shoots, particularly the addible parts (i.e., grains), jeopardizes crop production and food safety. Isolating and identifying genotypic variations in Cd accumulation of rapeseed (Brassica napus) cultivars is an efficient approach for phytoremediation and developing lower Cd‐accumulating plants. In this study, a trial was conducted under natural condition in Nanjing, China, from 2014 to 2017, and identified 64 rapeseed cultivars collected from the areas of Gui Zhou province. Rapeseed grew under moderate Cd exposure (5 mg kg−1) for 5 months, and shoots were harvested for Cd quantification. A great variation of total Cd concentrations in shoots, ranking from 0.16 to 17.03 mg Cd kg−1, was found. Following the initial examination of all cultivars, two sets of plants with high (#138 and #177) and low (#208 and #244) Cd concentrations were further investigated. Throughout the growth period, cultivars #138 and #177 accumulated more Cd during vegetative (30, 60, and 120 d) and late developmental (180 d) stages than cultivars #208 and #244. The higher Cd concentration in shoots of #138 and #177 was associated with the higher Cd concentration in xylem sap, suggesting the greater capability of Cd translocation from roots to shoots. Compared to #208 and #244, Cd exposure moderately reduced zinc and iron concentrations in some tissues of #138 and #177, whereas the manganese and magnesium concentrations showed no change. Although #138 and #177 cultivars accumulated more Cd in their shoots, no Cd toxicity was detected. Moreover, both #138 and #177 cultivars had a similar biomass to #208 or #244. These results suggest that #138 and #177 rapeseeds are tolerant to Cd stress. [ABSTRACT FROM AUTHOR]

Problem The relationship between genital infection and two sperm parameters, namely, concentrations of nitric oxide ( NO) and cytokines [e.g., interleukin ( IL)-17 and IL-18], in the semen of infertile males remains undetermined. Method of study Semen samples from 81 infertile (with or without Ureaplasma urealyticum infection) and normal males were subjected to semen analysis. Results Nitric oxide concentration in the semen of infertile males with genital infection was higher than those of infertile males without genital infection and of normal males ( P < 0.05). Sperm density, pH, percentage of forward, movement of sperm, sperm activation rate, sperm survival rate, and normal rate of the sperm morphology of infertile males with U. urealyticum infection were significantly lower than those of infertile males without genital infection and of normal males ( P < 0.05). NO concentrations were also positively correlated with IL-17 and IL-18 concentrations in the semen of infertile males. Conclusion Increased NO concentration and abnormal IL-17 and IL-18 expression were induced by genital infection and induced damage to male reproductive capacity, thereby causing male infertility. [ABSTRACT FROM AUTHOR]

The article presents a study on the isolation of bioactive nitrogenous compounds from Acorus tatarinowii, a traditional Chinese medicine used for treating central nervous system diseases. Information on the details of the results of the study are discussed. The study shows that nitrogenous compounds include tatarine D (2) identified as a new azafluoranthene alkaloid and tatarine E (9) as a new lignanamide.

Within the framework of our discontinuous deformation analysis for rock failure algorithm, this paper presents a two-dimensional coupled hydromechanical discontinuum model for simulating the rock hydraulic fracturing process. In the proposed approach, based on the generated joint network, the calculation of fluid mechanics is performed first to obtain the seepage pressure near the tips of existing cracks, and then the fluid pressure is treated as linearly distributed loads on corresponding block boundaries. The contribution of the hydraulic pressure to the initiation/propagation of the cracks is considered by adding the components of these blocks into the force matrix of the global equilibrium equation. Finally, failure criteria are applied at the crack tips to determine the occurrence of cracking events. Several verification examples are simulated, and the results show that this newly proposed numerical model can simulate the hydraulic fracturing process correctly and effectively. Although the numerical and experimental verifications focus on one unique preexisting crack, because of the capability of discontinuous deformation analysis in simulating block-like structures, the proposed approach is capable of modeling rock hydraulic fracturing processes. Copyright © 2014 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

The article discusses research on two new sesquiterpenoids from Artemisia annua, a fragrant herb belonging to the family Asteraceae. The study presented the isolation and structural elucidation of the sesquiterpenoids by the anaysis of 1D and 2D nuclear magnetic resonance (NMR), high-resolution electrospray ionisation mass spectrometry (HR-ESI-MS), calculated equivalent circulating density (ECD) and crystal X-ray diffraction. Results showed the presence of a proton spin system.

A series of novel 5-alkyl(aryl)-3-[(3-trifluoromethyl)anilino]-4,5-dihydro-1H-pyrazolo[4,3-d]pyrimidin-4-imines were designed and synthesized by the multistep reactions. 1 reacted with 3-(trifluoromethyl)aniline to obtain N, S-acetals 2 in the presence of 10 mol% DBU. 2 reacted with hydrazine to form 5-amino-3-[(3-trifluoromethyl)anilino]-1H-pyrazol-4- nitrile 3, the target compounds 5a, 5b, 5c, 5d, 5e, 5f, 5g, 5h, 5i, 5j, 5k, 5l, 5m were obtained by the reaction of 3 with triethyl orthoformate followed by the of 4 with various amines. Their structures were confirmed by IR, 1H NMR, EI-MS, and elemental analyses. The preliminary bioassay indicated that some of them displayed moderate herbicidal activity against dicotyledonous weed Brassica campestris L at the concentration of 100 mg/L. For example, compounds 5f, 5g, 5h, and 5j possessed 60.1%, 63.4%, 67.1%, and 61.3% inhibition against Brassica campestris L at the concentration of 100 mg/L. [ABSTRACT FROM AUTHOR]

Ligularia is mainly distributed in the western regions of China. Most of the species have been traditionally used in folk medicine for the treatment of hepatitis B, asthma, hemoptysis and pulmonary tuberculosis. In our continuation of research on antiviral components from traditional Chinese medicine, Ligularia atroviolacea was tested for inhibitory effects on hepatitis B virus (HBV). A bioassay-guided phytochemical examination of L. atroviolacea disclosed that its ethyl acetate extract, which was made up of two eremophilenolides, showed suppressive activity on the expression of HBV surface antigen (HBsAg) in the HepG2.2.15 cell line. Then a simple and effective preparative high-speed counter-current chromatography method was successfully developed for the isolation and purification of two main active metabolites, 8 β-hydroxyeremophil-3,7(11)-dien-12,8 α;15,6 α-diolide and 8 β-methoxyeremophil-3,7(11)-dien-12,8 α;15,6 α-diolide from the ethyl acetate extract of L. atroviolacea by a one-step separation using a two-phase solvent system composed of light petroleum (60-90°C)-ethyl acetate-methanol-water (9:1:8:2, v/v/v). The chemical structures of the two eremophilenolides were identified by ESI-MS, 1H-NMR and 13C-NMR analysis. The anti-HBV activity of the two purified compounds was measured; both of them showed suppressive activity on the expression of HBsAg in the HepG2.2.15 cell line. The results support the continued and expanded exploitation and utilization of L. atroviolacea. Copyright © 2008 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

13 Title compounds of type (III) are prepared. [ABSTRACT FROM AUTHOR]

The asymmetric unit of the title compound, C(23)H(23)N(5)OS, contains two independent mol-ecules. In one mol-ecule, the thia-zole and pyrimidine rings are almost co-planar, making a dihedral angle of 2.48 (8)°. In the other mol-ecule, the corresponding dihedral angle is 12.82 (8)°. The crystal structure is stabilized by weak inter-molecular N-H⋯N and C-H⋯O inter-actions that extend along the b axis.

In the title compound, C(23)H(23)N(5)S, the thia-zole ring and pyrimidine ring are almost coplanar, making a dihedral angle of 4.02 (9)°. in the crystal, weak inter-molecular N-H⋯N inter-actions link pairs of molecules into centrosymmetric dimers.

In the title compound, C(22)H(19)Cl(2)N(5)S, the thia-zole and pyrimidine rings are almost co-planar, making a dihedral angle of 6.48 (7)°. In the crystal, intermolecular N-H⋯N hydrogen bonds link pairs of molecules into centrosymmetric dimers..

Objectives: Concerns regarding change in the onset and tempo of pubertal growth in ethnic Chinese have posed a need for current information on growth characteristics. This study is to update the normative data of pubertal linear growth characteristics and distribution of age at menarche in healthy Chinese adolescents., Methods: A multistage stratified cluster sampling investigation based on age and sex was designed for anthropometric data collection in 2008, including 15,204 healthy boys and 13,047 healthy girls. The PB1 mathematical growth model was utilized to derive biological parameters of the adolescent growth curves. Ages at menarche were estimated in 6,476 girls through probit analysis at the ages at which 10%, 25%, 50%, 75%, and 90% of the girls attained menarche., Results: The peak growth age (PGA) was 12.6 years for boys and 10.6 years for girls. The PHV was 6.91 cm/yr in boys and 6.69 cm/yr in girls. The overall increments of adult height since 1985 were 3.3 cm for males and 2.3 cm for females, yielded rates of 1.4 and 1.0 cm/decade, respectively. Less than 10% of Chinese girls experience onset of menses before 11.38 years, and approximately 90% of all Chinese girls are menstruating by 13.88 years, with a median age of 12.63 years., Conclusions: The current study showed an advancing trend in PGA in both Chinese boys and girls. Decreasing menarche age was also observed for Chinese girls. These updated data would serve as useful reference for interpretation of endocrine and growth status and growth disorders in Chinese during peripubertal period., (© 2010 Wiley-Liss, Inc.)