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41.
Viakhireva I. Musatova E. Bessonova L. Shcherbatyuk Y. Korobkov S. Zhikriveckaya S. Sofronova Ya. Mironova I. Khmelkova D. Konovalov F. Baranova A. Pomerantseva E. Skoblov M. 《Familial cancer》2020,19(3):241-246
Familial Cancer - Despite the acceptance of NextGen sequencing as a diagnostic modality suitable for probands and carriers of Mendelian diseases, its efficiency in identifying causal mutations is... 相似文献
42.
Harinakshi Sanikini David C. Muller Marisa Sophiea Sabina Rinaldi Antonio Agudo Eric J. Duell Elisabete Weiderpass Kim Overvad Anne Tjønneland Jytte Halkjær Marie-Christine Boutron-Ruault Franck Carbonnel Iris Cervenka Heiner Boeing Rudolf Kaaks Tilman Kühn Antonia Trichopoulou Georgia Martimianaki Anna Karakatsani Valeria Pala Domenico Palli Amalia Mattiello Rosario Tumino Carlotta Sacerdote Guri Skeie Charlotta Rylander María-Dolores Chirlaque López Maria-Jose Sánchez Eva Ardanaz Sara Regnér Tanja Stocks Bas Bueno-de-Mesquita Roel C.H. Vermeulen Dagfinn Aune Tammy Y.N. Tong Nathalie Kliemann Neil Murphy Marc Chadeau-Hyam Marc J. Gunter Amanda J. Cross 《International journal of cancer. Journal international du cancer》2020,146(4):929-942
Obesity has been associated with upper gastrointestinal cancers; however, there are limited prospective data on associations by subtype/subsite. Obesity can impact hormonal factors, which have been hypothesized to play a role in these cancers. We investigated anthropometric and reproductive factors in relation to esophageal and gastric cancer by subtype and subsite for 476,160 participants from the European Prospective Investigation into Cancer and Nutrition cohort. Multivariable hazard ratios (HRs) and 95% confidence intervals (CIs) were estimated using Cox models. During a mean follow-up of 14 years, 220 esophageal adenocarcinomas (EA), 195 esophageal squamous cell carcinomas, 243 gastric cardia (GC) and 373 gastric noncardia (GNC) cancers were diagnosed. Body mass index (BMI) was associated with EA in men (BMI ≥30 vs. 18.5–25 kg/m2: HR = 1.94, 95% CI: 1.25–3.03) and women (HR = 2.66, 95% CI: 1.15–6.19); however, adjustment for waist-to-hip ratio (WHR) attenuated these associations. After mutual adjustment for BMI and HC, respectively, WHR and waist circumference (WC) were associated with EA in men (HR = 3.47, 95% CI: 1.99–6.06 for WHR >0.96 vs. <0.91; HR = 2.67, 95% CI: 1.52–4.72 for WC >98 vs. <90 cm) and women (HR = 4.40, 95% CI: 1.35–14.33 for WHR >0.82 vs. <0.76; HR = 5.67, 95% CI: 1.76–18.26 for WC >84 vs. <74 cm). WHR was also positively associated with GC in women, and WC was positively associated with GC in men. Inverse associations were observed between parity and EA (HR = 0.38, 95% CI: 0.14–0.99; >2 vs. 0) and age at first pregnancy and GNC (HR = 0.54, 95% CI: 0.32–0.91; >26 vs. <22 years); whereas bilateral ovariectomy was positively associated with GNC (HR = 1.87, 95% CI: 1.04–3.36). These findings support a role for hormonal pathways in upper gastrointestinal cancers. 相似文献
43.
Ting Tian Ci Song Longfeng Jiang Jingjing Dai Yuan Lin Xin Xu Chengxiao Yu Zijun Ge Yuqing Ding Yang Wen Bo Liu Yuyun Shao Ping Shi Chuanlong Zhu Yuan Liu Shenqi Jing Zhongmin Wang Zhibin Hu Jun Li 《International journal of cancer. Journal international du cancer》2020,147(11):3075-3084
The relationship between hepatitis B virus (HBV) and nonhepatocellular cancers remains inconclusive. This large case-control study aimed to assess the associations between HBV infection status and multiple cancers. Cases (n = 50 392) and controls (n = 11 361) were consecutively recruited from 2008 to 2016 at the First Affiliated Hospital of Nanjing Medical University. Multivariable adjusted odds ratios (aORs) and 95% confidence intervals (95% CIs) were estimated using logistic regression by adjusting age and gender. A meta-analysis based on published studies was also performed to verify the associations. Of these, 12.1% of cases and 5.5% of controls were hepatitis B surface antigen (HBsAg) seropositive. We observed significant associations between HBsAg seropositivity and esophagus cancer (aOR [95% CI] = 1.32 [1.13-1.54]), stomach cancer (1.46 [1.30-1.65]), hepatocellular carcinoma (HCC; 39.11 [35.08-43.59]), intrahepatic and extrahepatic bile duct carcinoma (ICC and ECC; 3.83 [2.58-5.67] and 1.72 [1.28-2.31]), pancreatic cancer (PaC; 1.37 [1.13-1.65]), non-Hodgkin lymphoma (NHL; 1.88 [1.61-2.20]) and leukemia (11.48 [4.05-32.56]). Additionally, compared to participants with HBsAg−/anti-HBs−/anti-HBc−, participants with HBsAg−/anti-HBs−/anti-HBc+, indicating past HBV-infected, had an increased risk of esophagus cancer (aOR [95% CI] = 1.46 [1.24-1.73]), stomach cancer (1.20 [1.04-1.39]), HCC (4.80 [3.95-5.84]) and leukemia (15.62 [2.05-119.17]). Then the overall meta-analysis also verified that HBsAg seropositivity was significantly associated with stomach cancer (OR [95% CI] = 1.23 [1.14-1.33]), ICC (4.05 [2.78-5.90]), ECC (1.73 [1.30-2.30]), PaC (1.26 [1.09-1.46]), NHL (1.95 [1.55-2.44]) and leukemia (1.54 [1.26-1.88]). In conclusion, both our case-control study and meta-analysis confirmed the significant association of HBsAg seropositivity with stomach cancer, ICC, ECC, PaC, NHL and leukemia. Of note, our findings also suggested that the risk of stomach cancer elevated for people whoever exposed to HBV. 相似文献
44.
Background
Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired voluntary movement.Objective
To identify clinical manifestations and DDC gene mutations in two Chinese mainland children who are siblings with AADC deficiency.Methods
We used targeted next-generation sequencing and quantitative polymerase chain reaction (qPCR) to reveal DDC mutations in these children.Results
Two DDC gene mutations were found: one missense mutation, c.1040G?>?A (p.Arg347Gln), is a reported mutation derived from the mother; the other mutation, a whole-exon 11 and 12 deletion, is a novel mutation derived from the father. The index patient and her brother both had poor sucking power and feeding difficulty at birth and episodes of oculogyric crises, truncal hypotonia, limb hypertonia, sleep disturbances, irritability, and motor delay. The siblings both died at 1?year and 10?months due to asphyxia and pneumonia during gaze and hypertonia episodes.Conclusion
This study identified a novel DDC gene deletion mutation in two siblings with AADC deficiency disease in the Chinese mainland population. 相似文献45.
Byung-Ho Yoon Lynne C. Jones Chung-Hwan Chen Edward Y. Cheng Quanjun Cui Wolf Drescher Wakaba Fukushima Valerie Gangji Stuart B. Goodman Yong-Chan Ha Philippe Hernigou Marc Hungerford Richard Iorio Woo-Lam Jo Vikas Khanduja Harry Kim Shin-Yoon Kim Tae-Young Kim Kyung-Hoi Koo 《The Journal of arthroplasty》2019,34(1):169-174.e1
Background
Although alcohol is a leading risk factor for osteonecrosis of the femoral head (ONFH) and its prevalence reportedly ranges from 20% to 45%, there are no unified classification criteria for this subpopulation. In 2015, Association Research Circulation Osseous decided to develop classification criteria for alcohol-associated ONFH.Methods
In June of 2017, Association Research Circulation Osseous formed a task force to conduct a Delphi survey. The task force invited 28 experts in osteonecrosis/bone circulation from 8 countries. Each round of the Delphi survey included questionnaires, analysis of replies, and feedback reports to the panel. After 3 rounds of the survey, consensus was reached on the classification criteria. The response rates for the 3 Delphi rounds were 100% (round 1), 96% (round 2), and 100% (round 3).Results
The consensus on the classification criteria of alcohol-associated ONFH included the following: (1) patients should have a history of alcohol intake >400 mL/wk (320 g/wk, any type of alcoholic beverage) of pure ethanol for more than 6 months; (2) ONFH should be diagnosed within 1 year after alcohol intake of this dose; and (3) patients should not have other risk factor(s).Conclusion
ARCO-established classification criteria to standardize clinical studies concerning AA-ONFH. 相似文献46.
In this paper, we use optimal parameter selection technique to develop two models involving single‐vendor–multiple‐buyer supply chain, which are called the dynamic independent optimization (DIO) model and the dynamic synchronized cycles (DSC) model, respectively. These models are, respectively, similar to the traditional static independent policy model and the traditional static synchronized cycle model, except that the deterministic demands of the buyers in the above two static models are now being replaced by the stochastic demands satisfying a Wiener process, which have more real‐life applications. Similar to the above static synchronized cycles model, the synchronization of the supply chain in our DSC model is also achieved by scheduling the delivery days of the buyers and coordinating them with the vendor's production cycle. Finding the optimal expected system costs of the DIO model and the DSC model involves solving optimal parameter selection problems governed by ordinary differential equations, whose final times are continuous decision variables and discrete decision variables, respectively. Computational methods have been developed for solving these problems. Numerical results show that the coordinated policy is better than the independent optimization policy, in terms of minimizing the expected system cost of the entire supply chain. Sensitivity analysis is performed to test the effect of changing the cost coefficients and the value on the performances of these models, where is the ratio of the total mean demand rate of all the buyers over the vendor's production rate. 相似文献
47.
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49.
Y. Chen B. Bai H. Yan F. Wen D. Qin G. Jander Q. Xia G. Wang 《Insect molecular biology》2019,28(3):380-391
Isopentenylation at A37 (i6A37) of some transfer RNAs (tRNAs) plays a vital role in regulating the efficiency and fidelity of protein synthesis. However, whether insects, which are well known for their highly efficient protein synthesis machinery, employ this regulatory mechanism remains uninvestigated. In the current study, a candidate tRNA isopentenyltransferase (IPT) gene with three alternative splicing isoforms (BmIPT1–BmIPT3) was identified in Bombyx mori (silkworm). Only BmIPT1 could complement a yeast mutant lacking tRNA IPT. Phylogenetic analysis showed that silkworm tRNA IPT is conserved in the Lepidoptera. BmIPT was expressed in all B. mori tissues and organs that were investigated, but was expressed at a significantly higher level in silk glands of the fourth instar compared to the first day of the fifth instar. Interestingly, BmIPT was expressed at a significantly higher level in the domesticated silkworm, B. mori, than in wild Bombyx mandarina in multiple tissues and organs. Knock‐down of BmIPT by RNA interference caused severe abnormalities in silk spinning and metamorphosis. Constitutive overexpression of BmIPT1 using a cytoplasmic actin 4 promoter in B. mori raised its messenger RNA level more than sixfold compared with nontransgenic insects and led to significant decreases in the body weight and cocoon shell ratio. Together, these results confirm the first functional tRNA IPT in insects and show that a suitable expression level of tRNA IPT is vital for silk spinning, normal growth, and metamorphosis. Thus, i6A modification at position A37 in tRNA probably plays an important role in B. mori protein synthesis. 相似文献
50.