Abstract：
:Duchenne muscular dystrophy (DMD), the most severe form of dystrophinopathy, is quite homogeneous with regards to its causative biochemical defect, i.e., complete dystrophin deficiency, but not so much with regards to its phenotype. For instance, muscle weakness progresses to the loss of independent ambulation at a variable age, starting from before 10 years, to even after 16 years (with glucocorticoid treatment). Identifying the bases of such variability is relevant for patient counseling, prognosis, stratification in trials, and identification of therapeutic targets. To date, variants in five loci have been associated with variability in human DMD sub-phenotypes: SPP1, LTBP4, CD40, ACTN3, and THBS1. Four of these genes (SPP1, LTBP4, CD40, and THBS1) are implicated in several interconnected molecular pathways regulating inflammatory response to muscle damage, regeneration, and fibrosis; while ACTN3 is known as "the gene for speed", as it contains a common truncating polymorphism (18% of the general population), which reduces muscle power and sprint performance. Studies leading to the identification of these modifiers were mostly based on a "candidate gene" approach, hence the identification of modifiers in "usual suspect" pathways, which are already known to modify muscle in disease or health. Unbiased approaches that are based on genome mapping have so far been applied only initially, but they will probably represent the focus of future developments in this field, and will hopefully identify novel, "unsuspected" therapeutic targets. In this article, we summarize the state of the art of modifier loci of human dystrophin deficiency, and attempt to assess their relevance and implications on both clinical management and translational research .
journal_name
J Clin Medjournal_title
Journal of clinical medicineauthors
Bello L,Pegoraro Edoi
10.3390/jcm8050649subject
Has Abstractpub_date
2019-05-10 00:00:00issue
5issn
2077-0383pii
jcm8050649journal_volume
8pub_type
杂志文章,评审abstract：BACKGROUND:The Dyskinesia Impairment Scale (DIS) is a new assessment scale for dystonia and choreoathetosis in children and youth with dyskinetic cerebral palsy. Today, the Burke-Fahn-Marsden Dystonia Rating Scale (BFM) is mostly used to assess dystonia in children with inherited dystonia. The aim of this study was to ...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9082597
更新日期：2020-08-11 00:00:00
abstract：:Background: We decided to investigate whether aneurysm wall enhancement (AWE) on high-resolution vessel wall magnetic resonance imaging (HR VW-MRI) coexists with the conventional risk factors for aneurysm rupture. Methods: We performed HR VW-MRI in 46 patients with 64 unruptured small intracranial aneurysms. Patient d...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm10020225
更新日期：2021-01-10 00:00:00
abstract：PURPOSE:To compare the reliability of five different intraoral scanners (IOSs) in the capture of implant scanbodies (SBs) and to verify the dimensional congruence between the meshes (MEs) of the SBs and the corresponding library file (LF). METHODS:A gypsum cast of a fully edentulous maxilla with six implant analogues ...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9072174
更新日期：2020-07-09 00:00:00
abstract：:Differentiation syndrome (DS) is a potentially fatal adverse drug reaction caused by the so-called differentiating agents such as all-trans retinoic acid (ATRA) and arsenic trioxide (ATO), used for remission induction in the treatment of the M3 subtype of acute myeloid leukemia (AML), acute promyelocytic leukemia (APL...
journal_title：Journal of clinical medicine
pub_type： 杂志文章,评审
doi：10.3390/jcm9103342
更新日期：2020-10-18 00:00:00
abstract：BACKGROUND:Hybrid minimally invasive esophagectomy (HMIE) has been proven to be superior when compared with open esophagectomy, with a significant reduction of postoperative morbidity. In HMIE, the laparotomy is replaced by a minimally invasive laparoscopic approach. The radical mediastinal resection plus reconstructio...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm8070978
更新日期：2019-07-05 00:00:00
abstract：:The neuropsychiatric symptoms of multiple sclerosis (MS), such as anxiety and depression, can result from disease activity itself as well as psychological reaction to an unfavorable diagnosis. Accordingly, the literature reports evidence of increased anxiety-like behavior in experimental autoimmune encephalomyelitis (...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm8020162
更新日期：2019-02-01 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：:Numerous studies have previously evaluated the marginal and internal fit of fixed prostheses; however, few reports have performed an objective comparison of the various methods used for their assessment. The purpose of this study was to compare five marginal and internal fit assessment methods for fixed prostheses. A ...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm8060785
更新日期：2019-06-01 00:00:00
abstract：:(1) Background: To examine trends in incidence and outcomes of urinary tract infections (UTIs) among men and women with or without chronic obstructive pulmonary disease (COPD), and to identify the predictors for in-hospital mortality (IHM). (2) Methods: We included patients (aged ≥40 years) who were hospitalized with ...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9123979
更新日期：2020-12-09 00:00:00
abstract：:Multidisciplinary interventions have been developed for patients with atopic dermatitis (AD) and their families, with the aim of improving outcomes such as disease control, adherence, and quality of life. We reviewed the content of different multidisciplinary approaches to intervention for AD and evidence for their im...
journal_title：Journal of clinical medicine
pub_type： 杂志文章,评审
doi：10.3390/jcm4051156
更新日期：2015-05-21 00:00:00
abstract：:microRNAs (miRNAs) are small non-coding RNAs that regulate gene expression by either blocking translation or inducing degradation of target mRNA. miRNAs play essential roles in diverse biological and pathological processes, including development of hepatic fibrosis. Hepatic stellate cells (HSCs) play a central role in...
journal_title：Journal of clinical medicine
pub_type： 杂志文章,评审
doi：10.3390/jcm5030038
更新日期：2016-03-16 00:00:00
abstract：BACKGROUND:Abdominal trauma, leading to intra-abdominal bleeding, is a life-threatening condition that might need emergency surgical intervention. Sonography and Computed Tomography (CT) are most commonly used to detect free intra-abdominal fluid. This study investigates the accuracy of CT to distinguish between ascite...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm10010076
更新日期：2020-12-28 00:00:00
abstract：:We have evaluated circulating miRNAs (-195-5p and -451a) in subjects with acute ischemic stroke (AIS) and in patients with transient ischemic attack (TIA). In this study, 18 subjects with AIS and 18 patients with TIA were enrolled and examined at admission (T0) and at 24 h and 48 h after admission, and compared to 20 ...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm8020130
更新日期：2019-01-22 00:00:00
abstract：:(1) Background: We evaluated macular ganglion cell layer-inner plexiform layer (GCL-IPL) thickness in patients with primary macula-off rhegmatogenous retinal detachment (RRD) treated with scleral buckling (SB) or pars plana vitrectomy (PPV) using spectral domain optical coherence tomography (SD-OCT). (2) Methods: In t...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9051411
更新日期：2020-05-10 00:00:00
abstract：OBJECTIVES:Central neurological manifestations of rheumatoid arthritis (RA) like rheumatoid meningitis (RM) are rare, little known and have a high rate of morbi-mortality. METHODS:We described six cases of RM that were directly related to RA activity after exhaustive assessment. RESULTS:They were mainly women, aged o...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9061625
更新日期：2020-05-27 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 idea of right heart catheterization (RHC) grew in the milieu of modern thinking about the cardiovascular system, influenced by the experiments of William Harvey, which were inspired by the treatises of Greek philosophers like Aristotle and Gallen, who made significant contributions to the subject. RHC was first di...
journal_title：Journal of clinical medicine
pub_type： 杂志文章,评审
doi：10.3390/jcm8091331
更新日期：2019-08-28 00:00:00
abstract：:This study aims to evaluate clinical and ulcer characteristics as well the outcomes of patients with diabetic foot ulcers (DFUs). The study group was composed of DFUs patients managed by a limb salvage protocol according to guidance. Clinical and ulcers findings were described, and 1-year outcomes defined as limb salv...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9061780
更新日期：2020-06-08 00:00:00
abstract：:Drug-induced immune thrombocytopenia (DITP) is a life-threatening clinical syndrome that is under-recognized and difficult to diagnose. Many drugs can cause immune-mediated thrombocytopenia, but the most commonly implicated are abciximab, carbamazepine, ceftriaxone, eptifibatide, heparin, ibuprofen, mirtazapine, oxali...
journal_title：Journal of clinical medicine
pub_type： 杂志文章,评审
doi：10.3390/jcm9072212
更新日期：2020-07-13 00:00:00
abstract：:Sarcopenia is defined as a syndrome characterized by progressive and generalized loss of skeletal muscle mass and strength. It has been identified as one of the most common comorbidities associated with femoral neck fracture (FNF). The aim of this review was to evaluate the impact of physical therapy on FNF patients' ...
journal_title：Journal of clinical medicine
pub_type： 杂志文章,评审
doi：10.3390/jcm9103115
更新日期：2020-09-26 00:00:00
abstract：:For a long time, the stem cell regenerative paradigm has been based on the assumption that progenitor cells play a critical role in tissue repair by means of their plasticity and differentiation potential. However, recent works suggest that the mechanism underlying the benefits of stem cell transplantation might relat...
journal_title：Journal of clinical medicine
pub_type： 杂志文章,评审
doi：10.3390/jcm2040302
更新日期：2013-12-17 00:00:00
abstract：:The clearance of malignant clonal cells significantly correlates with clinical outcomes in many hematologic malignancies. Accurate and high throughput tools for minimal residual disease (MRD) detection are needed to overcome some drawbacks of standard molecular techniques; such novel tools have allowed for higher sens...
journal_title：Journal of clinical medicine
pub_type： 杂志文章,评审
doi：10.3390/jcm7090288
更新日期：2018-09-18 00:00:00
abstract：:Nitric oxide (NO) synthesis markers, comprising L-homoarginine, asymmetric dimethylarginine (ADMA) and symmetric dimethylarginine (SDMA), are significantly associated with cardiovascular events and mortality. Being involved in NO pathways, they may be of high importance regulating vascular tone and arterial hypertensi...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9123895
更新日期：2020-11-30 00:00:00
abstract：BACKGROUND:Elevated plasma lactate levels correlate with high mortality rate in acute pulmonary embolism (PE) patients. We hypothesized that elevated lactate levels correlate with prothrombotic fibrin clot properties and enhanced neutrophil extracellular trap (NET) formation in acute PE. METHODS:As many as 126 normote...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9040953
更新日期：2020-03-30 00:00:00
abstract：:Hyperkalemia may cause life-threatening cardiac and neuromuscular alterations, and it is associated with high mortality rates. Its treatment includes a multifaceted approach, guided by potassium levels and clinical presentation. In general, treatment of hyperkalemia may be directed towards stabilizing cell membrane po...
journal_title：Journal of clinical medicine
pub_type： 杂志文章,评审
doi：10.3390/jcm9082337
更新日期：2020-07-22 00:00:00
abstract：:Improving transgender people's quality of life (QoL) is the most important goal of gender-affirming care. Prospective changes in affect can influence QoL. We aim to assess the impact of initiating gender-affirming hormonal treatment (HT) on affect. In the European Network for the Investigation of Gender Incongruence (...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm10020296
更新日期：2021-01-14 00:00:00
abstract：:Focal Segmental Glomerulosclerosis (FSGS) recurrence after kidney transplantation (KTx) is relatively frequent and is associated with poor graft survival. The aim of this study was to investigate which management strategies were associated with better outcomes in our cohort of KTx recipients with primary FSGS. We retr...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm10030373
更新日期：2021-01-20 00:00:00
abstract：:Sarcoidosis is a systemic disease of unknown etiology characterized by the presence of noncaseating granulomas that can occur in any organ, most commonly the lungs. Early and accurate diagnosis of sarcoidosis remains challenging because initial presentations may vary, many patients are asymptomatic, and there is no si...
journal_title：Journal of clinical medicine
pub_type： 杂志文章,评审
doi：10.3390/jcm9082363
更新日期：2020-07-24 00:00:00
abstract：:While satisfactory results have been reported during short-to mid-term follow-up assessments of hemophilic patients who have undergone total knee arthroplasty (TKA), limited literature focusing on long-term survival following TKA exists to date. As part of this investigation, a consecutive series of 78 TKAs in 56 pati...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9103247
更新日期：2020-10-11 00:00:00
abstract：:This article presents the technical aspects of the Polish fetal cardiac interventions (FCI) program, including preparation of the team and modifications in the technique of the procedure that aim to increase its safety for the mother and the fetus. Over 9 years, 128 FCI in 113 fetuses have been performed: 94 balloon a...
journal_title：Journal of clinical medicine
pub_type： 杂志文章
doi：10.3390/jcm9092888
更新日期：2020-09-07 00:00:00
