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Xavier Bosch, Carmen Sanclemente-Ansó, Ona Escoda, Esther Monclús, Jonathan Franco-Vanegas, Pedro Moreno, Mar Guerra-García, Neus Guasch, Alfons López-Soto
BACKGROUND: Mainly because of the diversity of clinical presentations, diagnostic delays in lymphoma can be excessive. The time spent in primary care before referral to the specialist may be relatively short compared with the interval between hospital appointment and diagnosis. Although studies have examined the diagnostic intervals and referral patterns of patients with lymphoma, the time to diagnosis of outpatient compared to inpatient settings and the costs incurred are unknown. METHODS: We performed a retrospective study at two academic hospitals to evaluate the time to diagnosis and associated costs of hospital-based outpatient diagnostic clinics or conventional hospitalization in four representative lymphoma subtypes...
March 12, 2018: BMC Cancer
Zheng Shi, Jie Chen, Xiaolan Guo, Lijia Cheng, Xiaoheng Guo, Tian Yu
Background: The receptor tyrosine kinase of the epidermal growth factor receptor (EGFR, ErbB) family played an important role in multisignaling pathways, which controlled numerous biological activities including proliferation, differentiation, apoptosis, etc. EGFR abnormalities have been associated with a variety of human tumors, which was a well-characterized target for cancer treatment. It was known to all that drug repositioning has been considered as a useful tool to accelerate the process of drug development...
January 2018: Journal of Cancer Research and Therapeutics
Aida M Bertoli-Avella, Jose M Garcia-Aznar, Oliver Brandau, Fahad Al-Hakami, Zafer Yüksel, Anett Marais, Nana-Maria Grüning, Lia Abbasi Moheb, Omid Paknia, Nahla Alshaikh, Seham Alameer, Makia J Marafi, Fahd Al-Mulla, Nouriya Al-Sannaa, Arndt Rolfs, Peter Bauer
Congenital neurological disorders are genetically highly heterogeneous. Rare forms of hereditary neurological disorders are still difficult to be adequately diagnosed. Pertinent studies, especially when reporting only single families, need independent confirmation. We present three unrelated families in which whole-exome sequencing identified the homozygous non-sense variants c.430[C>T];[C>T] p.(Arg144*), c.1219[C>T];[C>T] p.(Gln407*) and c.1408[C>T];[C>T] p.(Arg470*) in GTPBP2. Their clinical presentations include early onset and apparently non-progressive motor and cognitive impairment, and thereby overlap with findings in a recently described family harbouring a homozygous GTPBP2 splice site variant...
February 15, 2018: European Journal of Human Genetics: EJHG
Stefano Uccella, Mario Malzoni, Antonella Cromi, Renato Seracchioli, Giuseppe Ciravolo, Francesco Fanfani, Fevzi Shakir, Salvatore Gueli Alletti, Francesco Legge, Roberto Berretta, Giacomo Corrado, Lucia Casarella, Paolo Donarini, Margherita Zanello, Emanuele Perrone, Baldo Gisone, Enrico Vizza, Giovanni Scambia, Fabio Ghezzi
BACKGROUND: Vaginal cuff dehiscence following hysterectomy is considered an infrequent but potentially devastating complication. Different possible techniques for cuff closure have been proposed to reduce this threatening adverse event. OBJECTIVE: Aim of the present randomized study has been to compare laparoscopic and transvaginal suture of the vaginal vault at the end of a total laparoscopic hysterectomy (TLH), in terms of incidence of vaginal dehiscence and vaginal cuff complications...
January 31, 2018: American Journal of Obstetrics and Gynecology
Bruce M Rothschild
Surface defects have a central position in diagnosis of articular pathology. Recognizing the limitations of standard radiologic techniques and those imposed by positioning and averaging artifacts on CT evaluation, direct visualization of surface defects was pursued to identify disease characteristics that would facilitate interpretation of radiologic findings. Epi-illumination surface microscopy was utilized to examine macroscopically recognized articular surface defects in individuals in the Hamann-Todd, Terry, and Huntington human skeletal collections with previously verified diagnoses of rheumatoid arthritis, spondyloarthropathy, juvenile inflammatory arthritis (JIA), calcium pyrophosphate deposition disease (CPPD), gout, metastatic cancer, multiple myeloma, septic arthritis, tuberculosis, fungal arthritis, histiocytosis and sickle cell anemia (Rothschild and Rothschild Clin Infect Dis 20(5):1402-1408, 1995; Rothschild et al...
February 4, 2018: Clinical Rheumatology
Caron Strahlendorf, Jason D Pole, Randy Barber, David Dix, Ketan Kulkarni, Emilie Martineau, Alicia Randall, David Stammers, Douglas Strother, Tony H Truong, Lillian Sung
BACKGROUND: The objectives of this study were to describe the impact of trial enrollment at diagnosis on event-free and overall survival in paediatric acute lymphoblastic leukaemic (ALL) using a population-based approach. METHODS: We conducted a retrospective cohort study that included children newly diagnosed with ALL between 1 and 14 years of age. The data source was the Cancer in Young People in Canada (CYP-C) national paediatric cancer population-based database...
January 30, 2018: British Journal of Cancer
Takuji Enya, Nobuhiko Okamoto, Yoshinori Iba, Tomoki Miyazawa, Mitsuru Okada, Shinobu Ida, Takuya Naruto, Issei Imoto, Atsushi Fujita, Noriko Miyake, Naomichi Matsumoto, Keisuke Sugimoto, Tsukasa Takemura
MAGEL2 is the paternally expressed gene within Prader-Willi syndrome critical region at 15q11.2. We encountered three individuals in whom truncating mutations of MAGEL2 were identified. Patients 1 and 2, siblings born to healthy, non-consanguineous Japanese parents, showed generalized hypotonia, lethargy, severe respiratory difficulty, poor feeding, and multiple anomalies including arthrogryposis soon after birth. We carried out whole-exome sequencing, which detected a MAGEL2 mutation (c.1912C>T, p.Gln638*, heterozygous)...
January 23, 2018: American Journal of Medical Genetics. Part A
Tiziano Marzo, Francisco Navas, Damiano Cirri, Antonello Merlino, Giarita Ferraro, Luigi Messori, Adoracion G Quiroga
The tetranuclear Pt complex (PtL)4 (where L2- is the anion derived from para-isopropyl thiosemicarbazone) was first described in A.G. Quiroga et al., J. Med. Chem. 41, 1998, 1399-1408. (PtL)4 manifests antiproliferative properties toward various cancer cell lines being a promising anticancer drug candidate. Yet, details of its reactivity with biomolecules have not been elucidated. To this end, we investigated the reactions of (PtL)4 with a few model proteins, i.e. bovine pancreatic ribonuclease (RNase A), cytochrome c (Cyt c) and hen egg white lysozyme (Lysozyme), through electrospray ionization mass spectrometry and other biophysical methods...
January 10, 2018: Journal of Inorganic Biochemistry
Nicolai J Wewer Albrechtsen, Kristine Færch, Troels M Jensen, Daniel R Witte, Jens Pedersen, Yuvaraj Mahendran, Anna E Jonsson, Katrine D Galsgaard, Marie Winther-Sørensen, Signe S Torekov, Torsten Lauritzen, Oluf Pedersen, Filip K Knop, Torben Hansen, Marit E Jørgensen, Dorte Vistisen, Jens J Holst
AIMS/HYPOTHESIS: The secretion of glucagon is controlled by blood glucose and inappropriate secretion of glucagon contributes to hyperglycaemia in diabetes. Besides its role in glucose regulation, glucagon regulates amino acid metabolism in hepatocytes by increasing ureagenesis. Disruption of this mechanism causes hyperaminoacidaemia, which in turn increases glucagon secretion. We hypothesised that hepatic insulin resistance (secondary to hepatic steatosis) via defective glucagon signalling/glucagon resistance would lead to impaired ureagenesis and, hence, increased plasma concentrations of glucagonotropic amino acids and, subsequently, glucagon...
January 5, 2018: Diabetologia
V Chano, C Collada, A Soto
BACKGROUND: Woody plants, especially trees, usually must face several injuries caused by different agents during their lives. Healing of injuries in stem and branches, affecting the vascular cambium and xylem can take several years. In conifers, healing takes place mainly from the remaining vascular cambium in the margin of the wound. The woundwood formed in conifers during healing usually presents malformed and disordered tracheids as well as abundant traumatic resin ducts. These characteristics affect its functionality as water conductor and its technological properties...
December 4, 2017: BMC Plant Biology
Angèle Gayet-Ageron, David Prieto-Merino, Katharine Ker, Haleema Shakur, François-Xavier Ageron, Ian Roberts
BACKGROUND: Antifibrinolytics reduce death from bleeding in trauma and post-partum haemorrhage. We examined the effect of treatment delay on the effectiveness of antifibrinolytics. METHODS: We did an individual patient-level data meta-analysis of randomised trials done with more than 1000 patients that assessed antifibrinolytics in acute severe bleeding. We identified trials done between Jan 1, 1946, and April 7, 2017, from MEDLINE, Embase, the Cochrane Central Register of Controlled Trials (CENTRAL), Web of Science, PubMed, Popline, and the WHO International Clinical Trials Registry Platform...
January 13, 2018: Lancet
Aiko Ogawa, Toru Satoh, Tetsuya Fukuda, Koichiro Sugimura, Yoshihiro Fukumoto, Noriaki Emoto, Norikazu Yamada, Atsushi Yao, Motomi Ando, Hitoshi Ogino, Nobuhiro Tanabe, Ichizo Tsujino, Masayuki Hanaoka, Kenji Minatoya, Hiroshi Ito, Hiromi Matsubara
BACKGROUND: Balloon pulmonary angioplasty (BPA) is an alternative therapy for patients with chronic thromboembolic pulmonary hypertension who are ineligible for pulmonary endarterectomy-the standard therapy. Currently, most reported results of BPA are from relatively small cohorts treated at single centers. The present study evaluated the safety and efficacy of BPA for chronic thromboembolic pulmonary hypertension based on a multicenter registry. METHODS AND RESULTS: A total of 308 patients (62 men and 246 women; mean age, 61 years) underwent 1408 procedures at 7 institutions in Japan...
November 2017: Circulation. Cardiovascular Quality and Outcomes
Sylvia E Badon, Alyson J Littman, Kwun Chuen Gary Chan, Michelle A Williams, Daniel A Enquobahrie
PURPOSE: The objectives of the study were to determine the extent to which trajectories of maternal preconception leisure-time physical activity (LTPA) and leisure-time sedentary behavior (LTSB) during adolescence and young adulthood are associated with offspring birth weight (BW) and to test if these associations differ by offspring sex or maternal pre-pregnancy overweight-obese status. METHODS: Participants with one or more birth (n = 1408) were identified from the National Longitudinal Study of Adolescent to Adult Health...
November 2017: Annals of Epidemiology
Jorge González-López, Jeremy K Cockcroft, Ángeles Fernández-González, Amalia Jimenez, Ricardo Grau-Crespo
The cobalt carbonate hydroxide Co2CO3(OH)2 is a technologically important solid which is used as a precursor for the synthesis of cobalt oxides in a wide range of applications. It also has relevance as a potential immobilizer of the toxic element cobalt in the natural environment, but its detailed crystal structure is so far unknown. The structure of Co2CO3(OH)2 has now been investigated using density functional theory (DFT) simulations and powder X-ray diffraction (PXRD) measurements on samples synthesized via deposition from aqueous solution...
October 1, 2017: Acta Crystallographica Section B, Structural Science, Crystal Engineering and Materials
Raj Luxmi, Rashmi Garg, Sudhakar Srivastava, Aniruddha P Sane
The SIN3 family of co-repressors is a family of highly conserved eukaryotic repressor proteins that regulates diverse functions in yeasts and animals but remains largely uncharacterized functionally even in plants like Arabidopsis. The sole SIN3 homologue in banana, MaSIN3, was identified as a 1408 amino acids, nuclear localized protein conserved to other SIN3s in the PAH, HID and HCR domains. Interestingly, MaSIN3 over-expression in Arabidopsis mimics a state of reduced ABA responses throughout plant development affecting growth processes such as germination, root growth, stomatal closure and water loss, flowering and senescence...
November 2017: Plant Science: An International Journal of Experimental Plant Biology
C E H Scott, D MacDonald, M Moran, T O White, J T Patton, J F Keating
AIMS: To evaluate the outcomes of cemented total hip arthroplasty (THA) following a fracture of the acetabulum, with evaluation of risk factors and comparison with a patient group with no history of fracture. PATIENTS AND METHODS: Between 1992 and 2016, 49 patients (33 male) with mean age of 57 years (25 to 87) underwent cemented THA at a mean of 6.5 years (0.1 to 25) following acetabular fracture. A total of 38 had undergone surgical fixation and 11 had been treated non-operatively; 13 patients died at a mean of 10...
October 2017: Bone & Joint Journal
Bing Li, Shiyi Yang, Haiqing Chu, Zhemin Zhang, Weijia Liu, Liulin Luo, Wei Ma, Xiaogang Xu
This study aimed to determine the antibiotic susceptibility and resistance related genotypes of Mycobacterium abscessus. One hundred sixty-two clinical isolates were collected. Genomic data were obtained by whole genome sequencing. Single nucleotide polymorphism (SNP) analysis was conducted using the NCBI GenBank database and BLAST algorithm. The following genes were of interest: erm(41), rrl and rrs. Erm(41) was further divided into 3 sequevars: erm(41)C28, erm(41)T28, and M type [erm(41) with deletions in nucleotides 64 and 65, or 159 through 432]...
2017: Frontiers in Microbiology
Yan-Ping He, Lv-Bing Yuan, Jian Zhang
By employing a nanosized tris(4'-carboxybiphenyl)amine ligand to assemble with Zn(2+) ions, a novel trilayer network (FIR-37) and an unprecedented 2D → 3D microporous polycatenation framework (FIR-38) based on unusual tetralayers have been synthesized and structurally characterized. FIR-38 shows permanent porosity with a Langmuir surface area of 1408.4 m(2) g(-1).
October 10, 2017: Dalton Transactions: An International Journal of Inorganic Chemistry
Thomas B Olesen, Jacob V Stidsen, Marie K Blicher, Manan Pareek, Susanne Rasmussen, Julie K K Vishram-Nielsen, Michael H Olsen
Markers of target-organ damage and 24-hour ambulatory blood pressure (BP) measurement improve cardiovascular risk stratification. The prevalence of target-organ damage and raised BP increases with aging. The study aim was to evaluate the impact of age and target-organ damage on the prognostic value of ambulatory BP. Markers of target-organ damage and ambulatory BP were measured in 1408 healthy people aged 41 or 51 (middle-aged group), and 61 or 71 (older group) years. The primary outcome was cardiovascular events after 16 years of follow-up, with data obtained from national registries...
November 2017: Hypertension
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