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排序方式: 共有10000条查询结果,搜索用时 15 毫秒
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Rabia Faridi Rizwan Yousaf Shoujun Gu Sayaka Inagaki Amy E. Turriff Keith Pelstring Bin Guan Amelia Naik Andrew J. Griffith Samuel Mawuli Adadey Elvis Twumasi Aboagye Gordon A. Awandare Robert J. Morell Ekaterini Tsilou Amanda G. Noyes Laura A. G. Sulmonte Ambroise Wonkam Isabelle Schrauwen Suzanne M. Leal Hela Azaiez Carmen C. Brewer Sheikh Riazuddin Robert B. Hufnagel Michael Hoa Wadih M. Zein J. Karl de Dios Thomas B. Friedman 《Clinical genetics》2023,103(6):699-703
95.
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome
Bernt Popp Melanie Brugger Sibylle Poschmann Tobias Bartolomaeus Maximilian Radtke Julia Hentschel Nataliya Di Donato Andreas Rump Janina Gburek-Augustat Elisabeth Graf Matias Wagner Ina Sorge Johannes R Lemke Thomas Meitinger Rami Abou Jamra Vincent Strehlow Theresa Brunet 《Clinical genetics》2023,103(2):226-230
96.
Shun Kaneko Masayuki Kurosaki Toshie Mashiba Hiroyuki Marusawa Masahiko Kondo Yuji Kojima Yasushi Uchida Hideki Fujii Takehiro Akahane Hitoshi Yagisawa Atsunori Kusakabe Haruhiko Kobashi Takehiko Abe Hideo Yoshida Chikara Ogawa Koichiro Furuta Nobuharu Tamaki Keiji Tsuji Tomomichi Matsushita Namiki Izumi the Japanese Red Cross Liver Study Group 《Journal of medical virology》2023,95(1):e28210
Nucleos(t)ide analogs (NAs) cannot completely suppress the risk of hepatocellular carcinoma (HCC) in patients with chronic hepatitis B (CHB). This study aimed to identify the risk factors for HCC development in naïve CHB patients treated with current NA. Patients receiving NA (n = 905) were recruited retrospectively from the 17 hospitals of the Japanese Red Cross Liver Study Group. All treatment-naïve patients had been receiving current NA continuously for more than 1 year until the end of the follow-up. We analyzed the accuracy of predictive risk score using the area under receiver operating characteristic curve. The albumin–bilirubin (ALBI) score was significantly improved by NA therapy (−0.171 ± 0.396; p < 0.001 at Week 48). A total of 72 (8.0%) patients developed HCC over a median follow-up of 6.2 (1.03–15.7) years. An independent predictive factor of HCC development was older age, cirrhosis, lower platelet counts at baseline and ALBI score, and alpha-fetoprotein (AFP) at 1 year after NA therapy according to multivariate analysis. The accuracy was assessed using the PAGE-B, mPAGE-B, aMAP, APA-B, and REAL-B scores that included these factors. Discrimination was generally acceptable for these models. aMAP and REAL-B demonstrated high discrimination with 0.866/0.862 and 0.833/0.859 for 3- and 5-year prediction from the status of 1 year after NA therapy, respectively. Baseline age and platelet count, as well as ALBI and AFP one year after NA, were useful for stratifying carcinogenesis risk. The aMAP and REAL-B scores were validated with high accuracy in Japanese CHB patients. 相似文献
97.
Nausicaa Christodoulou Léa Bertrand Laura Palagini Justine Frija-Masson Marie-Pia d'Ortho Michel Lejoyeux Dieter Riemann Julia Maruani Pierre A. Geoffroy 《Journal of sleep research》2023,32(1):e13752
Insomnia is the most frequent sleep disorder and a public health concern that increased during the Covid 19 pandemic. Fully restrictive lockdowns during Covid are interesting periods to examine the impact of environmental and behavioural changes on the emergence of insomnia symptoms. In this cross-sectional study we aimed to (1) determine the main factors associated with insomnia symptoms during a Covid-19 fully restrictive lockdown examining the associated daily life alterations and (2) create a predictive model of insomnia symptoms. We used the data drawn from the “Covid-RythmE” study that reached volunteers from the general French population through an online survey during the last 2 weeks of the 2 month full lockdown. Associations with insomnia symptoms were tested and significant associations were entered in a Backward Stepwise Logistic Regression (BSLR) to assess the best combination to classify individuals with or without insomnia symptoms. From the 1624 participants, 50.64% suffered from mild to severe insomnia symptoms as assessed by the ISI. The best combination for explaining insomnia symptoms with 74.26% of accuracy included: age (OR = 1.15), females (OR = 1.26), smaller home sizes (OR = 0.77), environmental noises (OR = 1.59), anxiety symptoms (OR = 1.24), depressive symptoms (OR = 1.15), regularity of sleep–wake schedules (OR = 1.25), exposure to screen during the morning (OR = 1.13), and LED light during the evening (OR = 1.17). Thus, lifestyle schedule and exposure to natural synchronizers such as light, are primordial in considering in insomnia physiopathology, prevention and treatment, as well as the associated mental health status. 相似文献
98.
Marco Sangermano Antonio Grieco Camilla Noè Giancarlo Rizza 《Macromolecular chemistry and physics.》2023,224(4):2200345
The removal of oil from water is a worldwide challenge that must be faced to avoid irreversible marine habitat destruction. A novel fast and simple technique to obtain polydimethylsiloxane (PDMS) membranes is developed using the photopolymerization technique. The high reactivity of the acrylated PDMS formulation toward photo-induced free radical polymerization is assessed via the differential scanning photo-calorimetry (photo-DSC) technique. Two different membranes dense or porous are developed and investigated. Porous membranes, having 100–200 µm as pore size, are obtained using a low-cost environmentally friendly sodium chloride template. Thanks to the hydrophobic/oleophilic intrinsic characteristic of PDMS, the UV-cured membranes can selectively remove dodecane, selected as the target oil, from water. The dodecane sorption capability of both membranes is investigated and compared. Moreover, the membranes can be easily reused since the adsorbed oil can be recovered by simply compressing the membrane. Those PDMS sorbents show high mechanical stability after five adsorption/desorption cycles. 相似文献
99.
Kirsten Barnicot Jennie Parker Sarah Kalwarowsky Eloise Stevens Jane Iles Paul Ramchandani Mike Crawford 《Psychology and psychotherapy》2023,96(2):480-503
Objectives
We explored mothers' and clinicians' experiences of a video feedback intervention adapted for perinatal ‘personality disorder’ (VIPP-PMH) and the acceptability of a randomised controlled trial (RCT) examining its effectiveness.Design
In-depth qualitative interviews with participants from a two-phase feasibility study of the VIPP-PMH intervention. Participants were mothers experiencing enduring difficulties in managing emotions and relationships, consistent with a ‘personality disorder’, and their 6- to 36-month-old children.Methods
Forty-four qualitative interviews were conducted, including all nine mothers receiving VIPP-PMH during the pilot phase, 25 of the 34 mothers participating in the RCT (14 allocated to the VIPP-PMH arm and 9 from the control arm), 11 of the 12 clinicians delivering VIPP-PMH and one researcher. Interview data were thematically analysed.Results
Mothers described feeling motivated to take part in the research and understood the need for randomisation. Research visits were largely experienced positively, with some suggestions for improvement in questionnaire timing and accessibility. Almost all mothers initially felt anxious about being filmed, but reported positive experiences of the intervention, particularly valuing its non-judgemental, positive and child-focussed nature, their supportive relationship with the therapist and the insights they gained on their child.Conclusions
The findings indicate the likely feasibility and acceptability of undertaking a future definitive RCT of the VIPP-PMH intervention in this population. In designing a future trial, a positive and non-judgemental therapeutic relationship will be important to allay mothers' anxieties about being filmed, and careful consideration should be given to the timing and accessibility of questionnaires used. 相似文献100.
Clémence Jacquin Emilie Landais Céline Poirsier Alexandra Afenjar Ahmad Akhavi Nathalie Bednarek Caroline Bénech Adeline Bonnard Damien Bosquet Lydie Burglen Patrick Callier Sandra Chantot-Bastaraud Christine Coubes Charles Coutton Bruno Delobel Margaux Descharmes Jean-Michel Dupont Vincent Gatinois Nicolas Gruchy Sarah Guterman Abdelkader Heddar Lucas Herissant Delphine Heron Bertrand Isidor Pauline Jaeger Guillaume Jouret Boris Keren Paul Kuentz Cedric Le Caignec Jonathan Levy Nathalie Lopez Zoe Manssens Dominique Martin-Coignard Isabelle Marey Cyril Mignot Chantal Missirian Céline Pebrel-Richard Lucile Pinson Jacques Puechberty Sylvia Redon Damien Sanlaville Marta Spodenkiewicz Anne-Claude Tabet Alain Verloes Gaelle Vieville Catherine Yardin François Vialard Martine Doco-Fenzy 《American journal of medical genetics. Part A》2023,191(2):445-458
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1. The 1p36DS is characterized by typical craniofacial features, developmental delay/intellectual disability, hypotonia, epilepsy, cardiomyopathy/congenital heart defect, brain abnormalities, hearing loss, eyes/vision problem, and short stature. The aim of our study was to (1) evaluate the incidence of the 1p36DS in the French population compared to 22q11.2 deletion syndrome and trisomy 21; (2) review the postnatal phenotype related to microarray data, compared to previously publish prenatal data. Thanks to a collaboration with the ACLF (Association des Cytogénéticiens de Langue Française), we have collected data of 86 patients constituting, to the best of our knowledge, the second-largest cohort of 1p36DS patients in the literature. We estimated an average of at least 10 cases per year in France. 1p36DS seems to be much less frequent than 22q11.2 deletion syndrome and trisomy 21. Patients presented mainly dysmorphism, microcephaly, developmental delay/intellectual disability, hypotonia, epilepsy, brain malformations, behavioral disorders, cardiomyopathy, or cardiovascular malformations and, pre and/or postnatal growth retardation. Cardiac abnormalities, brain malformations, and epilepsy were more frequent in distal deletions, whereas microcephaly was more common in proximal deletions. Mapping and genotype–phenotype correlation allowed us to identify four critical regions responsible for intellectual disability. This study highlights some phenotypic variability, according to the deletion position, and helps to refine the phenotype of 1p36DS, allowing improved management and follow-up of patients. 相似文献