British Journal of Cancer, Published online: 08 June 2020; doi:10.1038/s41416-020-0925-4Oestrogen receptor pathway activity is associated with outcome in endometrial cancer
Mon Jun 08, 2020 02:44
British Journal of Cancer, Published online: 08 June 2020; doi:10.1038/s41416-020-0920-9Cervical screening: ESGO-EFC position paper of the European Society of Gynaecologic Oncology (ESGO) and the European Federation of Colposcopy (EFC)
Mon Jun 08, 2020 02:44
Abstract TD‐0714 is an orally active, potent, and selective inhibitor of human neprilysin (hNEP) in development for the treatment of chronic heart failure. Oral administration of TD‐0714 in rats resulted in dose‐dependent and sustained increases in plasma cyclic guanosine monophosphate (cGMP) over 24 hours consistent with NEP target engagement. Randomized, double‐blind, placebo controlled, single ascending dose (SAD; 50 to 600 mg TD‐0714) and multiple ascending dose (MAD; 10 to 200 mg TD‐0714 QD...
Sun Jun 07, 2020 17:21
Abstract Graft function is crucial for successful kidney transplantation. Many factors may affect graft function or cause delayed graft function (DGF), which decreases the prognosis for graft survival. This study was designed to evaluate whether the perioperative use of dexmedetomidine could improve the incidence of function of graft kidney and complications after kidney transplantation. A total of 780 patients underwent kidney transplantations, 315 received intravenous dexmedetomidine infusion...
Sun Jun 07, 2020 17:16
Abstract Maribavir is an orally bioavailable benzimidazole riboside in clinical development for treatment of cytomegalovirus infection in transplant patients. Maribavir was evaluated in a thorough QT (TQT) study to determine any effects on cardiac repolarization. The effect of maribavir 100 and 1200 mg oral doses on the baseline‐ and placebo‐adjusted QTc interval (delta delta QTc [ddQTc]) and other electrocardiogram (ECG) parameters was assessed in a randomized, phase I, placebo‐controlled, 4‐period...
Sun Jun 07, 2020 17:05
ABSTRACT Understanding the prevalence of clinically relevant pharmacogenetic variants using large unselected populations is critical for gauging the potential clinical impact of widespread preemptive pharmacogenetic testing. To this end, we assessed the frequencies and ethnic distribution of the three most common CYP2C19 alleles (*2, *3, and *17) in 2.29 million direct‐to‐consumer genetics research participants (23andMe, Inc. Sunnyvale, CA). The overall frequencies of *2, *3, and *17 were 15.2%,...
Sun Jun 07, 2020 17:05
Abstract Objective We considered the effect of dysphagia rehabilitation and investigated parameters associated with the resumption of oral intake in the elderly patients receiving home nursing care who were not eating by mouth. Methods The participants were 116 patients aged ≥65 years (66 men and 50 women, mean age 79.7 ± 8.9 years) who were receiving home nursing care and not eating by mouth because of dysphagia. All patients underwent dysphagia rehabilitation for 6 months with the objective...
Sun Jun 07, 2020 16:43
Abstract Background Primary burning mouth syndrome (BMS) is an orofacial disease with neuropathic characteristics. Psychophysics, such as quantitative sensory testing (QST) are used to sub‐classify neuropathic pain syndromes, but their usefulness in characterizing BMS is not yet clear. Objective The aim of this study was to summarize and to quantitatively and qualitatively analyse the available information about QST findings in BMS, and to reflect on possible mechanisms of disease. ...
Fri Jun 05, 2020 12:16
Abstract Our improved tools to identify the aetiologies in patients with multiple abnormalities resulted in the finding that some patients have more than a single genetic condition and that some of the diagnoses made in the past are acquired rather than inherited. However, limited knowledge has been accumulated regarding the phenotypic outcome of the interaction between different genetic conditions identified in the same patients. We report a newborn girl with brachytelephalangic chondrodysplasia...
Sun Jun 07, 2020 16:18
Abstract Baraitser–Winter cerebrofrontofacial syndrome (BWCS) is a rare, autosomal dominant condition that is characterized by intellectual disability, distinctive craniofacial features, structural brain abnormalities, seizures, microcephaly, hearing loss, and ocular colobomas. The first three cases were described in 1988 by Baraitser and Winter and included two siblings and an unrelated third patient. Subsequently, causative missense variants in the ACTB and ACTG1 genes were identified, with...
Sun Jun 07, 2020 16:06
Abstract The objectives of this study were to characterize the sleep habits of 50 clinically referred individuals with Angelman syndrome (AS) and to retrospectively compare the effectiveness/tolerability of the three most commonly prescribed sleep medications in the sample. An experienced physician assigned a Clinical Global Impressions‐Severity scale (CGI‐S) score for each subject's AS‐specific symptoms. Caregivers completed the Child Sleep Habits Questionnaire (CSHQ; screen for sleep problems...
Sun Jun 07, 2020 15:58
Abstract More than 50 individuals with activating variants in the receptor tyrosine kinase PDGFRB have been reported, separated based on clinical features into solitary myofibromas, infantile myofibromatosis, Penttinen syndrome with premature aging and osteopenia, Kosaki overgrowth syndrome, and fusiform aneurysms. Despite their descriptions as distinct clinical entities, review of previous reports demonstrates substantial phenotypic overlap. We present a case series of 12 patients with activating...
Fri Jun 05, 2020 13:32
Abstract Benign parotid surgery is a common Head & Neck procedure often requiring up to two nights as an inpatient, however fibrin glue products are allowing for drainless parotid surgery. TissuePatchDS‐PTM is a synthetic adhesive patch dressing which has been used successfully in skull base surgery and neck dissections to reduce CSF leaks and drainage output. TissuePatchDS‐PTM was used in 3 pilot patients undergoing benign superficial parotid surgery as a replacement for surgical drain. All...
Sun Jun 07, 2020 17:53
Abstract Objectives Target volumes for irradiation remain ill‐defined for squamous cell cancer of unknown primary in the head and neck (SCCUP). The aim of this study was to compare involved neck only (INO) radiotherapy (RT) with irradiating involved neck plus potential mucosal primary sites and contralateral neck (MUC) in patients diagnosed and treated with modern diagnostics and techniques. Design This is a retrospective cohort study. Patients with a diagnosis of SCCUP with unilateral...
Fri Jun 05, 2020 15:41
Background Operating room (OR) costs are a large portion of healthcare expenses. This study evaluates the impact of a surgeon‐targeted surgical receipt cost feedback system on OR supply costs in sinonasal surgery and individual components contributing to procedural cost. Methods Itemized weekly surgical receipts detailing individual case supply costs were analyzed before and after the implementation of a non‐incentivized surgeon cost feedback system between January 2017 and June 2019. Supply...
Sun Jun 07, 2020 21:30
Background Pain is a major symptom of chronic rhinosinusitis (CRS). It is mainly associated with CRS without nasal polyps (CRSsNP) and has a major impact in the decision to move on to surgery. Patients with CRS with nasal polyps (CRSwNP) are characterized by trigeminal hypoesthesia and suffer from less pain. The aim of this study was to investigate whether CRS induces alterations in the peripheral nociceptive neurons, mainly focusing on quantitative changes. Methods Sinus mucosa and inferior...
Sun Jun 07, 2020 21:30
Background Odontogenic sinusitis (ODS) can present a therapeutic dilemma because multiple treatment strategies have been reported. ODS review articles have been published, but they have lacked multidisciplinary collaboration and an evidence‐based methodology. The purpose of this article was to perform an evidence‐based review of ODS management options, and develop a multidisciplinary consensus statement on ODS management options. Methods An evidence‐based review of dental and medical literature...
Sun Jun 07, 2020 21:29
Background Chronic rhinosinusitis patients (CRS) suffer from chronic inflammation of the sinus mucosa associated with chronic relapsing infections. Mucosal biofilms, associated with Staphylococcus aureus , have been implicated as a cause. We compared the effect of exoproteins secreted from clinical isolates of S aureus from CRS patients in planktonic and biofilm form on the nasal epithelial barrier. Methods Clinical S aureus isolates from 39 CRS patients were grown in planktonic and biofilm...
Sun Jun 07, 2020 21:05
Sun Jun 07, 2020 20:59
Description and validation of a simple histological nerve tissue scoring system for nerve allografts
Abstract Background In nerve allograft development, currently used subjective histological scoring systems to evaluate nerve structure in experimental studies are not uniform and have not been validated. The aim of this study was to describe and validate a simple, fast and inexpensive method to compare structural properties of nerve allografts on a histological level. Materials and methods A total of 113 histological sections of rat (sciatic nerves) and human peripheral nerve segments...
Sun Jun 07, 2020 17:11
Abstract Reconstruction of complex back defects is challenging for reconstructive surgeons, as it should preserve function, provide adequate coverage, and minimize morbidity. We present a case of multiple‐step reconstruction after resection of a large squamous cell carcinoma recurrence in a 68‐year‐old man, with local perforator flaps and a reverse‐flow latissimus dorsi myocutaneous flap. After radical excision, four propeller perforator flaps were harvested to cover a 30 × 25 cm defect, based on...
Thu Jun 04, 2020 21:45
Abstract The severity of sterile inflammation, as seen in acute pancreatitis, is determined by damage‐sensing receptors, signalling cascades and cytokine production. Stat2 is a type I interferon signalling mediator that also has interferon‐independent roles in murine lipopolysaccharide‐induced NF‐κB‐mediated sepsis. However, its role in sterile inflammation is unknown. We hypothesised that Stat2 determines the severity of non‐infective inflammation in the pancreas. Wild type (WT) and Stat2−/− mice...
Sun Jun 07, 2020 16:30
Abstract The interaction of multiple myeloma (MM) cells with the bone marrow (BM) microenvironment promotes MM cell retention, survival and resistance to different anti‐MM agents, including proteasome inhibitors (PIs) such as bortezomib (BTZ). The α4β1 integrin is a main adhesion receptor mediating MM cell‐stroma interactions and MM cell survival, and its expression and function are downregulated by BTZ, leading to inhibition of cell adhesion‐mediated drug resistance (CAM‐DR) and MM cell apoptosis....
Fri Jun 05, 2020 15:50
Abstract Objectives The aim of this prospective study was to evaluate the implant, prosthesis, and patient‐reported outcomes of maxillary removable prostheses retained by 4 implant‐supported study abutments after a follow‐up period of 1 year in patients with natural teeth or a fixed rehabilitation in the mandible. Materials And Methods A total of 30 patients were included and all received 4 implants in the upper maxilla. After 12 weeks, the prostheses were connected to the implant with...
Thu Jun 04, 2020 11:13
In less than 6 months, the severe acute respiratory syndrome‐coronavirus type 2 (SARS‐CoV‐2) has spread worldwide infecting nearly 6 million people and killing over 350,000. Initially thought to be restricted to the respiratory system, we now understand that coronavirus disease 2019 (COVID‐19) also involves multiple other organs including the central and peripheral nervous system. The number of recognized neurologic manifestations of SARS‐CoV‐2 infection is rapidly accumulating. These may result...
Sun Jun 07, 2020 17:04
The identification of progression in multiple sclerosis is typically retrospective. Given the profound burden of progressive multiple sclerosis, and the recent development of effective treatments for these patients, there is a need to establish measures capable of identifying progressive multiple sclerosis early in the disease course. Starting from recent pathological findings, this review assesses the state‐of‐the‐art of potential measures able to predict progressive multiple sclerosis. Future promising...
Sun Jun 07, 2020 16:18
Objective We have previously identified male sex, younger age, and the presence of spinal cord lesions as independent factors that increase the 5‐year risk for evolution from radiologically isolated syndrome (RIS) to multiple sclerosis. We investigate here risk factors for the development of a clinical event using a 10‐year, multi‐national, retrospectively‐identified RIS dataset. Methods RIS subjects were identified according to 2009 RIS criteria and longitudinally followed as part of a worldwide...
Thu Jun 04, 2020 20:39
Abstract Congenital absence of skin (CAS) is a clinical sign associated with the main types of epidermolysis bullosa (EB). Very few studies have investigated the genetic background that may influence the occurrence of this condition. Our objective was to investigate genotype‐phenotype correlations on EB with CAS through a literature revision on the pathogenic variants previously reported. A total of 171 cases (49 EB simplex, EBS; 23 junctional EB, JEB; and 99 dystrophic EB, DEB), associated...
Sun Jun 07, 2020 17:04
Abstract Diagnostic yield of genetic studies for Charcot‐Marie‐Tooth disease (CMT) is little known, with a lack of epidemiological data to build better diagnostic strategies outside the US and Europe. We aimed to evaluate the performance of two molecular diagnostic strategies for patients with CMT, and to characterize epidemiological findings of these conditions in southern Brazil. We performed a single‐center cross‐sectional study, in which 94 patients (55 families) with CMT suspicion were...
Sun Jun 07, 2020 15:40
Abstract The fact that monogenic diseases are related to mutations in one specific gene, make gene correction one of the promising strategies in the future to treat genetic diseases or alleviate their symptoms. From this perspective, and along with recent advances in technology, genome editing tools have gained momentum and developed fast. In fact, clustered regularly interspaced short palindromic repeats‐associated protein 9 (CRISPR/Cas9), transcription activator‐like effector nucleases (TALENs),...
Sun Jun 07, 2020 15:40
Abstract MircoRNAs (miRNAs) are a group of small, non‐coding, regulatory RNAs with an average length of about 22 nucleotides, which mostly modulate gene expression post‐transcriptionally via complementary binding to the 3’‐untranslated region (3’‐UTR) of multiple target genes. Emerging evidences have shown miRNAs are frequently dysregulated in a variety of human malignancies. Among them, microRNA‐145 (miR‐145) has been increasingly identified as a critical suppressor of carcinogenesis and therapeutic...
Sun Jun 07, 2020 17:16
Abstract Exosomal long non‐coding RNA (lncRNA) has been found to be associated with the development of cancers. However, the expression characteristics and the biological roles of exosomal lncRNAs in hepatocellular carcinoma (HCC) remain unknown. Here, by RNA‐sequencing, we found 9,440 mRNAs and 8,572 lncRNAs were differentially expressed (DE‐) of plasma‐exosomes between HCC patients and healthy controls. Exosomal DE‐lncRNAs displayed higher expression level and tissue specificity, lower expression...
Sun Jun 07, 2020 17:16
Abstract This study presents the final report of the multicenter, prospective tyrosine kinase inhibitor discontinuation study, D‐STOP, after a 3‐year follow‐up of 54 patients with chronic CML who discontinued dasatinib after sustained deep molecular response (DMR) for ≥2 years with dasatinib. Estimated treatment‐free remission (TFR) rates at 12 and 36 months were 63.0% [95% confidence interval (CI): 48.7–74.3] and 59.3% (95% CI: 45.0–71.0), respectively. CD3–CD56+NK, CD16+CD56+NK, CD57+CD56+NK large...
Sun Jun 07, 2020 17:15
Abstract External auditory canal squamous cell carcinoma (EACSCC) is an extremely rare and aggressive malignancy. Due to its rarity, the molecular and genetic characteristics of EACSCC have not yet been elucidated. To reveal the genetic alterations of EACSCC, we performed whole exome sequencing (WES) on 11 primary tumors, one relapsed tumor and 10 noncancerous tissues from 10 patients with EACSCC, including one with a rare case of synchronous bilateral EACSCC of both ears. WES of the primary tumor...
Fri Jun 05, 2020 11:49
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