Search

Abstract Nasopharyngeal carcinoma (NPC) is characterized by a high prevalence in Southern China, especially among Cantonese individuals of the Guangdong Province. Epidemiological studies have suggested that frequent exposure to high levels of nitrosamine from preserved foods such as salted fish could be a risk factor for NPC. Cytochrome P450 encompasses a family of enzymes that metabolize carcinogens and CYP2A13, a member of this family, is expressed predominantly in the respiratory tract with the highest levels in the nasal mucosa. In an effort to test whether a correlation exists between CYP2A13 genetic polymorphism and the risk of developing NPC, we sequenced all nine exons and the exon-intron junctions of the CYP2A13 gene in 45 NPC patients. We identified a total of 21 single nucleotide polymorphism (SNPs), including 7 novel SNPs. The most frequent functional variant allele was 74A-1757G-3375T-7233G with a haplotype frequency of 7.8% in the 45 NPC cases. In addition, a stop codon mutation was detected in one case. We then selected the 3 most frequent SNPs and one stop codon mutation to expand our study to a case-control analysis within the Cantonese population. A novel haplotype consisting 8 SNPs in introns, and four additional novel SNPs were identified; but no correlation between CYP2A13 genetic polymorphism and individual susceptibility to NPC was observed.

SMART, the acronym of scalable media adaptation and robust transport, is a suite of compression and transmission technologies for efficient, scalable, adaptive, and robust video streaming over the best-effort Internet. It consists of two indispensable parts: SMART video coding and SMART video streaming. The SMART video coding part is an efficient DCT-based universal fine granularity scalable coding scheme. Since the SMART video coding scheme adopts multiple-loop prediction and drifting reduction techniques at the macroblock level, it can achieve high coding efficiency at a wide range of bit rates. More importantly, it provides all sorts of scalabilities, that is, quality, temporal, spatial, and complexity scalabilities, in order to accommodate heterogeneous time-variant networks and different devices. The SMART video streaming part is a transport scheme that fully takes advantages of the special features of the scalable bit streams. An accurate bandwidth estimation method is first discussed as the prerequisite of network adaptation. Then, flexible error resilience technique and unequal error protection strategy are investigated to enhance the robustness of streaming SMART bit stream. The SMART system shows excellent performances with regard to high coding efficiency, flexible channel bandwidth adaptation, smooth playback, and superior error robustness in static and dynamic experiments.

BackgroundNoninvasive tools for the prognosis of ESCC are urgently needed. To this end, serum coagulation tests have been researched in some cancers, but the prognostic value of the TT in ESCC has not been described.MethodsThe levels of pre-treatment serum coagulation markers (including the PT, APTT, PTA, INR, fibrinogen level, TT and PLT) were retrospectively analyzed in 204 patients with ESCC who underwent surgical resection at our department and in 200 healthy controls, and the two groups were compared. The prognostic significance of the coagulation tests was then determined with univariate and multivariate cox hazard analyses in patients with ESCC.ResultsCompared with those in normal controls, the PT, APTT, and fibrinogen levels were significantly increased, whereas the TT values significantly decreased in the 204 ESCC patients. The TT directly correlated with the 5-year survival rate, not only in the entire ESCC cohort (p = 0.023) but also in the subgroups stratified according to the T and N classifications and metastasis. Conversely, the other tests were not independent prognostic factors for ESCC. Of the clotting markers, the TT inversely correlated with the fibrinogen level (p = 0.005).ConclusionsThe 5-year survival was shorter in ESCC patients exhibiting decreased pre-treatment TT values. Thus, the serum TT may be a clinical prognostic factor for ESCC patients.

Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism, developmental delay/intellectual disability (DD/ID), abnormal extremities, and hirsutism. About 65% of patients harbor mutations in genes that encode subunits or regulators of thecohesin complex, including NIPBL, SMCIA, SMC3, RAD21, and HD ACS. Wiedemann-Steiner syndrome (WDSTS), which shares CdLS phenotypic features, is caused by mutations in lysine-specific methyltransferase 2A [KMT2A). Here, we performed whole-exome sequencing (WES) of 2 male siblings clinically diagnosed with WDSTS; this revealed a hemizygous, missense mutation in SMC1A that was predicted to be deleterious. Extensive clinical evaluation and WES of 32 Turkish patients clinically diagnosed with CdLS revealed the presence of a de novo heterozygous nonsense KMT2A mutation in 1 patient without characteristic WDSTS features. We also identified de novo heterozygous mutations in SMC3 or SMC1A that affected RNA splicing in 2 independent patients with combined CdLS and WDSTS features. Furthermore, in families from 2 separate world populations segregating an autosomal-recessive disorder with CdLS-like features, we identified homozygous mutations in TAF6, which encodes a core transcriptional regulatory pathway component. Together, our data, along with recent transcriptome studies, suggest that CdLS and related phenotypes may be "transcriptomopathies" ratherthan cohesinopathies. [ABSTRACT FROM AUTHOR]

Background: The risk stratification for fatal arrhythmias remains inadequate. Cardiac magnetic resonance (CMR) imaging provides a detailed evaluation of arrhythmogenic substrates. This study investigated the predictive capacity of multiparametric CMR for fatal ventricular arrhythmias (VAs) in a heterogeneous disease cohort., Methods: The study included 396 consecutive patients with structural heart disease (SHD, n = 248) and non-apparent SHD (n = 148) who underwent CMR scans between 2018 and 2022. The primary endpoint was fatal composite arrhythmias., Results: Thirty-three patients (8.3 %) experienced fatal arrhythmias (25 with SHD, 8 with non-apparent SHD) over a median follow-up of 24 months. The independent risk factors for patients with SHD included syncope (hazard ratio [HR] = 5.347; P  < 0.001), VA history (HR = 3.705; P = 0.004), right ventricular ejection fraction (RVEF) ≤ 45 % (HR = 2.587; P  = 0.039), and the presence of late gadolinium enhancement (LGE) (HR = 4.767; P  = 0.040). In the non-apparent SHD group, fatal arrhythmias were independently correlated with VA history (HR = 10.23; P  = 0.005), RVEF ≤ 45 % (HR = 8.307; P  = 0.015), and CMR myocardial abnormalities (HR = 5.203; P  = 0.033). Patients at high risk of fatal arrhythmia in the SHD and non-apparent SHD groups exhibited 3-year event-free survival rates of 69.4 % and 83.5 %, respectively., Conclusion: CMR provides effective prognostic information for patients with and without apparent SHD. The presence of LGE, CMR myocardial abnormalities, and right ventricular dysfunction are strong risk markers for fatal arrhythmias., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2024 Published by Elsevier B.V.)

Objective: To determine the enantiomeric impurity contents of domestic timolol maleate in bulk drugs and eye drops., Methods: Enantiomer impurity of timolol was assayed by chiral high performance liquid chromatography. The chromatographic conditions were as follows:chiralcel OD chiral column (4.6 mm ×150 mm, 5μm), detection wavelength:297 nm, mobile phase:hexane-isopropanol-diethylamine (480:20:1), column temperature:25 ℃, flow rate:1.0 ml/min, sample injection volume:5 μl., Results: The resolution between R- and S-timolol was more than 4. The enantiomeric impurity contents were less than 0.67% on average in two batches of timolol maleate bulk drugs, and 0.31% on average in three batches of timolol maleate eye drops., Conclusion: Enantiomeric impurity contents in each batch of products all meet European Pharmacopoeia criteria, which can be used as references in Chinese Pharmacopoeia criteria.

Objective: To investigate the curative effects of different types of hysteroscopic surgery for endometrial polyps., Methods: A total of 327 cases by different ways of hysteroscopic surgery for endometrial polyps from Nov 1999 to Nov 2004 were followed up. The mean age was (40 +/- 6) years. The mean follow-up was (3.0 +/- 0.6) years. Among 228 polyps patients in sexual maturity without desire of maintaining fertility, 53 (group A) underwent polypectomy with electrosurgical vaporization, and 175 cases (group B) did polypectomy with endometrial resection. Fifty-four (group C) cases (19 cases of infertility), who desired future childbearing, did polypectomy with endometrial resection of superficial layer near the polyps. Forty-five postmenopausal patients (group D) did polypectomy with endometrial coagulation., Results: The time of operation: group A (15.1 +/- 0.8) second, group B (19.7 +/- 0.7) second, group C (20.9 +/- 0.7) second, and group D (22.1 +/- 0.8) second. None of the polyps recurred for the patients of groups A and D after operation, and the recurrent rate of groups B and C was 1.7% and 7.4%. There were no cases with amenorrhea in group C, who hoped to keep the function of fertility, but the recurrent rate of polyps was higher than other three groups. Of 19 cases of infertility, 14 cases became pregnant after the surgery., Conclusion: It is feasible to select different hysteroscopic surgery for endometrial polyps, according to different ages and the desire of childbearing of the patients.