Abstract：
:In the past two decades, multiple studies have been undertaken to elucidate the genetic cause of the predisposition to mismatch repair (MMR)-proficient nonpolyposis colorectal cancer (CRC). Here, we present the proposed candidate genes according to their involvement in specific pathways considered relevant in hereditary CRC and/or colorectal carcinogenesis. To date, only pathogenic variants in RPS20 may be convincedly linked to hereditary CRC. Nevertheless, accumulated evidence supports the involvement in the CRC predisposition of other genes, including MRE11, BARD1, POT1, BUB1B, POLE2, BRF1, IL12RB1, PTPN12, or the epigenetic alteration of PTPRJ. The contribution of the identified candidate genes to familial/early onset MMR-proficient nonpolyposis CRC, if any, is extremely small, suggesting that other factors, such as the accumulation of low risk CRC alleles, shared environmental exposures, and/or gene-environmental interactions, may explain the missing heritability in CRC.
journal_name
J Clin Medjournal_title
Journal of clinical medicineauthors
Terradas M,Capellá G,Valle Ldoi
10.3390/jcm9061954subject
Has Abstractpub_date
2020-06-23 00:00:00issue
6issn
2077-0383pii
jcm9061954journal_volume
9pub_type
杂志文章,评审abstract：:Infections with SARS-CoV-2 can result in severe clinical manifestations. As such patients present with systemic inflammation, we studied the prevalence and predictive value of anemia of inflammation (AI) or functional iron deficiency (FID), originating from immune-mediated alterations of iron homeostasis. Within this ...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9082429
更新日期：2020-07-29 00:00:00
abstract：:This study evaluated whether inter-hospital transfer (IHT) after the return of spontaneous circulation (ROSC) was associated with poor neurological outcomes after 6 months in post-cardiac-arrest patients treated with targeted temperature management (TTM). We used data from the Korean Hypothermia Network prospective re...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9061979
更新日期：2020-06-24 00:00:00
abstract：:Clinically, in young immunocompetent adults, Epstein-Barr virus (EBV) usually manifests as infectious mononucleosis (IM). Typical clinical findings of EBV IM include fever, profound fatigue, pharyngitis, bilateral posterior cervical adenopathy, and splenomegaly. Respiratory involvement with EBV IM may occur, but is di...
journal_title：Journal of clinical medicine
pub_type：
doi：10.3390/jcm6090083
更新日期：2017-09-04 00:00:00
abstract：:Prediction of recurrences after catheter ablation of atrial fibrillation (AF) remains challenging. We sought to investigate the long-term outcomes after AF catheter ablation. A total of 2221 consecutive patients who underwent catheter ablation for symptomatic AF were included in this study (mean age 55 ± 11 years, 20....
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9103164
更新日期：2020-09-30 00:00:00
abstract：BACKGROUND:Neoadjuvant therapy (NAT) represents a paradigm shift in the management of patients with pancreatic ductal adenocarcinoma (PDAC) with perceived benefits including a higher R0 rate. However, it is unclear whether NAT affects the sites and patterns of recurrence after surgery. This review seeks to compare site...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9072132
更新日期：2020-07-06 00:00:00
abstract：:We investigated the prognostic influence of androgen receptor (AR) on breast cancer. AR status was assessed using immunohistochemistry with tissue microarrays from 395 operable primary breast cancer patients who received curative surgery. The Kaplan-Meier estimator was used to analyze the survival rates and a log-rank...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9041083
更新日期：2020-04-10 00:00:00
abstract：:In excess of three quarters of patients with psoriatic arthritis (PsA) have preceding psoriasis (PsO), which offers a clinical biomarker for the recognition of early PsA. Numerous surveys have shown a remarkably high frequency of clinically occult musculoskeletal symptoms in psoriasis patients. Imaging studies, partic...
journal_title：Journal of clinical medicine
pub_type： 杂志文章,评审
doi：10.3390/jcm9103262
更新日期：2020-10-12 00:00:00
abstract：INTRODUCTION:Advances in the acute treatment of myocardial infarction (AMI) substantially reduced in-hospital mortality, but the post-discharge prognosis is still unacceptable. The Managed Care in Acute Myocardial Infarction (MC-AMI) is a program of Poland's National Health Fund that aims at comprehensive post-AMI care...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9103178
更新日期：2020-09-30 00:00:00
abstract：:The aim of this study was to evaluate the ability of a PIPS (photon-induced photoacoustic streaming) Er:YAG laser to reduce the root canal system bacterial count in vivo in comparison to the traditional irrigation technique. The post-operative patients' quality of life (QoL) after endodontic therapy was evaluated thro...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9123915
更新日期：2020-12-02 00:00:00
abstract：:Non-steroidal anti-inflammatory drugs (NSAIDs) can be used as opioid alternatives for patient-controlled analgesia (PCA). However, their use after nephrectomy has raised concerns regarding possible nephrotoxicity. This study compared postoperative renal function and postoperative outcomes between patients using NSAID ...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9092959
更新日期：2020-09-13 00:00:00
abstract：:Sarcopenia is related to adverse outcomes in various populations. However, little is known about the prevalence of sarcopenia in polytrauma patients. Identifying the number of patients at risk of adverse outcome will increase awareness to prevent further loss of muscle mass. We utilized data from a regional prospectiv...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9072046
更新日期：2020-06-29 00:00:00
abstract：:Attention deficit hyperactivity disorder (ADHD) is a frequent neurodevelopmental disorder that often persists into adulthood. Methylphenidate (MPH) is the first-line treatment for ADHD; however, despite its wide usage, little is known about its neurometabolic effects. Until now, no randomized and blinded clinical tria...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9082601
更新日期：2020-08-11 00:00:00
abstract：:Background: Aspirin is often prescribed empirically to improve the patency of hemodialysis (HD) vascular access. Therefore, this study aimed to investigate the impact of aspirin on the survival of vascular access in incident HD patients with arteriovenous fistula (AVF) or arteriovenous graft (AVG). Methods: A prospect...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm8050677
更新日期：2019-05-14 00:00:00
abstract：BACKGROUND:Our study aims to perform a meta-analysis of benefits and risks associated with the use of non-vitamin K oral anticoagulants (NOAC) versus vitamin K antagonists (VKA) in patients with a percutaneous coronary intervention (PCI) with a particular focus on the combination type: dual vs. dual antithrombotic ther...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9041120
更新日期：2020-04-14 00:00:00
abstract：:The main objective was to assess the efficacy of botulinum toxin-based treatment for sialorrhea in adult patients with Parkinson's disease. The search was performed by using the Medline-PubMed, EMBASE and Cochrane Library databases from January 2000⁻December 2017, in English/Spanish in patients with Parkinson's diseas...
journal_title：Journal of clinical medicine
pub_type： 杂志文章,评审
doi：10.3390/jcm8030317
更新日期：2019-03-06 00:00:00
abstract：:Before eosinophils migrate into the bronchial lumen, they promote airway structural changes after contact with pulmonary cells and extracellular matrix components. We aimed to investigate the impact of eosinophil adhesion to their viability and pro-proliferative effect on airway smooth muscle (ASM) cells and pulmonary...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm8091274
更新日期：2019-08-22 00:00:00
abstract：:Sex differences among patients with complement-gene-variant-mediated thrombotic microangiopathy (cTMA) are not well established. We examined demographic and clinical data from female and male patients with a history of cTMA enrolled in the Vienna thrombotic microangiopathy (TMA) cohort. Follow-up was three years after...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9040964
更新日期：2020-03-31 00:00:00
abstract：:This report describes the trends of chorionic villus sampling (CVS) referred for prenatal genetic diagnosis in the past two and a half decades in a Portuguese Center. Our cohort of 491 CVS was mostly performed by the transcervical method at the 12th gestational week. Data collected within the framework of this study r...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm3030838
更新日期：2014-07-24 00:00:00
abstract：:Cardiovascular autonomic neuropathy (CAN) is a common complication of diabetes mellitus. Cardiovascular reflex tests (CARTs) are the gold standard in the diagnosis of CAN, but the handgrip test is no longer recommended to be performed. Previously, the inverse association between the presence of hypertension and handgr...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9103322
更新日期：2020-10-16 00:00:00
abstract：:The purpose of this study is to describe the Minimally Invasive Intraoral Approach (MIIA) performed on selected cases of abscesses and neck phlegmons of odontogenic origin when the infection has not spread beyond the inferior mandibular margin. This technique allows us to avoid cervicotomy by a direct approach to the ...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9092971
更新日期：2020-09-14 00:00:00
abstract：:The UBE3A gene codes for a protein with two known functions, a ubiquitin E3-ligase which catalyzes ubiquitin binding to substrate proteins and a steroid hormone receptor coactivator. UBE3A is most famous for its critical role in neuronal functioning. Lack of UBE3A protein expression leads to Angelman syndrome (AS), wh...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9051573
更新日期：2020-05-22 00:00:00
abstract：:Studies have reported controversial findings on the association between fetal growth restriction (FGR) or intertwin weight discordance and the risk of hypertensive disorders of pregnancy (HDP) in twin pregnancies. The aim of this study was to investigate the association between twin growth disorders and HDP. Twin preg...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9103276
更新日期：2020-10-13 00:00:00
abstract：:Research examining associations between objectively-measured napping time and type 2 diabetes (T2D) is lacking. This study aimed to evaluate daytime napping in relation to T2D and adiposity measures in elderly individuals from the Mediterranean region. A cross-sectional analysis of baseline data from 2190 elderly part...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm8071053
更新日期：2019-07-19 00:00:00
abstract：:Hyperglycemia is a common occurrence in hospitalized patients receiving parenteral and/or enteral nutrition. Although there are several approaches to manage hyperglycemia, there is no consensus on the best practice. We systematically searched PubMed, Embase, Cochrane Central, and ClinicalTrials.gov to identify records...
journal_title：Journal of clinical medicine
pub_type： 杂志文章,评审
doi：10.3390/jcm8070935
更新日期：2019-06-28 00:00:00
abstract：BACKGROUND:Pyogenic liver abscess (LA) is difficult to distinguish from intrahepatic mass-forming cholangiocarcinoma (IMCC) in the emergency department (ED). We evaluated the predictive ability of white blood cells (WBC) and C-reactive protein (CRP) levels, neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte r...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9103194
更新日期：2020-10-01 00:00:00
abstract：:The nociceptive withdrawal reflex (NWR) is used to probe spinal cord excitability in chronic pain states. Here, we used an automated and unbiased procedure for determining the NWR threshold and compared the reflex thresholds and corresponding pain ratings in a well-characterized cohort of fibromyalgia (n = 29) and mat...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9061992
更新日期：2020-06-25 00:00:00
abstract：:ST-elevation myocardial infarction (STEMI) is one of the main reasons for morbidity and mortality worldwide. In addition to the classic biomarker NT-proBNP, new biomarkers like ST2 and Pentraxin-3 (Ptx-3) have emerged as potential tools in stratifying risk in cardiac patients. Indeed, multimarker approaches to estimat...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9020550
更新日期：2020-02-18 00:00:00
abstract：:The aim of this study was to compare surgical and refractive outcomes between phacotrabeculectomy (P-Trab) and phaco with Ex-PRESS (P-Ex-PRESS) for glaucoma at a 6-month follow-up. This prospective randomized controlled trial included 81 eyes; 43 eyes (53%) and 38 eyes (47%) were assigned to the P-Ex-PRESS and P-Trab ...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm10030424
更新日期：2021-01-22 00:00:00
abstract：:Paraneoplastic neurological syndromes (PNSs) are a heterogeneous group of rare immune-mediated diseases associated with cancer. The aim of this study was to investigate the prevalence of PNSs in the province of Brescia. PNS prevalence was calculated using the Lombardy regional hospital admission records from 1998 to 2...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9103105
更新日期：2020-09-25 00:00:00
abstract：:Reprogramming somatic cells to induced pluripotent stem cells (iPSCs) or direct reprogramming to desired cell types are powerful and new in vitro methods for the study of human disease, cell replacement therapy, and drug development. Both methods to reprogram cells are unconstrained by the ethical and social questions...
journal_title：Journal of clinical medicine
pub_type： 杂志文章,评审
doi：10.3390/jcm3020373
更新日期：2014-04-04 00:00:00
