Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa.

Pompe disease is a metabolic myopathy, due to deficiency of alpha glucosidase, with a wide clinical spectrum. Enzyme replacement therapy is the only available treatment to improve morbidity and mortality, especially in infantile-onset form. However, some patients experience infusion-associated reactions, which may restrict their access to this treatment.

Inhibition of histone methyltransferase DOT1L silences ERα gene and blocks proliferation of antiestrogen-resistant breast cancer cells.

Breast cancer (BC) resistance to endocrine therapy results from constitutively active or aberrant estrogen receptor α (ERα) signaling, and ways to block ERα pathway in these tumors are sought after. We identified the H3K79 methyltransferase DOT1L as a novel cofactor of ERα in BC cell chromatin, where the two proteins colocalize to regulate estrogen target gene transcription. DOT1L blockade reduces proliferation of hormone-responsive BC cells in vivo and in vitro, consequent to cell cycle arrest and apoptotic cell death, with widespread effects on ER-dependent gene transcription, including ERα and FOXA1 gene silencing.

Encapsulation of inuloxin A, a plant germacrane sesquiterpene with potential herbicidal activity, in β-cyclodextrins.

Inuloxin A is a promising plant phytotoxic sesquiterpene that deserves further studies to evaluate its potential as a bioherbicide. However, its low solubility in water and its bioavailability could hamper its practical applications. For this reason, inuloxin A was complexed with β-cyclodextrins by using three different methods, i.

Identification of long non‑coding RNA expression patterns useful for molecular‑based classification of type I endometrial cancers.

Endometrial cancer is the most frequently diagnosed gynecologic malignant disease. Although several genetic alterations have been associated with the increased risk of endometrial cancer, to date, the diagnosis and prognosis still rely on morphological features of the tumor, such as histological type, grading and invasiveness. As molecular‑based classification is desirable for optimal treatment and prognosis of these cancers, we explored the potential of lncRNAs as molecular biomarkers.

Oncoplastic conservative surgery for breast cancer: long-term outcomes of our first ten years experience.

Objective: The main goal of oncoplastic breast surgery (OBS) is to optimize cosmetic outcomes and reduce patient morbidity, while still providing an oncologically-safe surgical outcome and extending the target population of conservative surgery. Although the growing number of reported experiences with oncoplastic surgery, few studies account for the long-term outcomes.

Patients And Methods: Between January 2000 and December 2010, 1024 consecutive oncoplastic surgeries were performed and prospectively included in a database.

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease.

Pompe disease is a metabolic myopathy that is caused by glycogen accumulation as a result of deficiency of the lysosomal enzyme acid alpha glucosidase (GAA). Previously, we showed that adult muscle stem cells termed satellite cells are present at normal levels in muscle from patients with Pompe disease, but that these are insufficiently activated to repair the severe muscle pathology. Here we characterized the muscle regenerative response during disease progression in a mouse model of Pompe disease and investigated the intrinsic capacity of Gaa satellite cells to regenerate muscle damage.

Factors influencing the use of biologic therapy and adoption of treat-to-target recommendations in current European rheumatology practice.

Objective: The aim of this study was to identify factors that influence treatment adjustments and adoption of a treat-to-target (T2T) strategy in patients with rheumatoid arthritis (RA) in European practices.

Methods: Cross-sectional data were drawn from the Adelphi 2014 RA Disease Specific Programme. Treatment patterns and clinical characteristics were investigated in patients treated with biologic disease-modifying antirheumatic drugs (bDMARDs) vs non-bDMARDs.

Distal biceps tendon rupture: advantages and drawbacks of the anatomical reinsertion with a modified double incision approach.

Background: Distal biceps tendon rupture occurs more often in middle-aged male population, involving the dominant arm. In this retrospective study, it's been described the occurrence of the most frequent adverse events and the clinical outcomes of patients undergoing surgical repair of distal biceps tendon rupture with the modified Morrey's double-incision approach, to determine better indications for patients with acute tendon injury.

Methods: Sixty-three patients with acute distal biceps tendon rupture treated with a modified double-incision technique between 2003 and 2015 were retrospectively evaluated at a mean 24 months of follow-up.

Colchicine reduces platelet aggregation by modulating cytoskeleton rearrangement via inhibition of cofilin and LIM domain kinase 1.

Introduction: Platelets activation/aggregation with subsequent thrombus formation is the main event in the pathophysiology of acute coronary syndrome. Once activated, platelets show an extensive cytoskeleton rearrangement that leads to recruitment of additional platelets to finally cause haemostatic plug formation. Thus, the cytoskeleton plays a pivotal role in this phenomenon.

miRNA Regulation of the Hyperproliferative Phenotype of Vascular Smooth Muscle Cells in Diabetes.

Harnessing the mechanisms underlying the exacerbated vascular remodeling in diabetes mellitus (DM) is pivotal to prevent the high toll of vascular diseases in patients with DM. miRNA regulates vascular smooth muscle cell (VSMC) phenotypic switch. However, miRNA modulation of the detrimental diabetic VSMC phenotype is underexplored.

Activation of Farnesoid X Receptor impairs the tumor-promoting function of breast cancer-associated fibroblasts.

Cancer-associated Fibroblasts (CAFs), the principal components of tumor microenvironment, play multiple role in breast cancer progression. We have previously shown an oncosuppressive role of the nuclear Farnesoid X Receptor (FXR) in mammary epithelial cancer cells, here we assessed whether FXR activation may affect CAF tumor-promoting features. We showed that FXR is expressed in human CAFs isolated from four patients and treatment with the selective FXR agonist GW4064 decreased CAF migration, stress-fiber formation and contractility.

Oncological safety of stromal vascular fraction enriched fat grafting in two-stage breast reconstruction after nipple sparing mastectomy: long-term results of a prospective study.

Objective: Autologous fat transfer (AFT) is commonly used to treat implant palpability and prevent fibrosis and thinning in mastectomy skin flaps. A major limit to this procedure is volume retention over time, leading to the introduction of fat enrichment with stromal vascular fraction (SVF+AFT). Oncological concerns have been raised over the injection of an increased concentration of progenitors cells (ASCs) in the SVF.

Morphological and phylogenetic analyses of Lutzomyia migonei from three Brazilian states.

Lutzomyia migonei is incriminated as a vector of Leishmania braziliensis, the main causative agent of cutaneous leishmaniasis in Brazil. Recently, this phlebotomine sand fly species has been suggested as a vector for Leishmania infantum, which causes zoonotic visceral leishmaniasis. Considering the widespread distribution of Lu.

Acute changes in DNA methylation in relation to 24 h personal air pollution exposure measurements: A panel study in four European countries.

Background: One of the potential mechanisms linking air pollution to health effects is through changes in DNA-methylation, which so far has mainly been analyzed globally or at candidate sites.

Objective: We investigated the association of personal and ambient air pollution exposure measures with genome-wide DNA-methylation changes.

Methods: We collected repeated 24-hour personal and ambient exposure measurements of particulate matter (PM), PM absorbance, and ultrafine particles (UFP) and peripheral blood samples from a panel of 157 healthy non-smoking adults living in four European countries.

Full Functional Knockout of Placental Growth Factor by Knockin with an Inactive Variant Able to Heterodimerize with VEGF-A.

Placental growth factor (PlGF) is a proangiogenic member of the vascular endothelial growth factor (VEGF) family playing a central role in pathological angiogenesis. PlGF-DE is a PlGF variant unable to bind vascular endothelial growth factor receptor 1 (VEGFR-1) but still able to generate heterodimer with VEGF-A. We have generated PlGF-DE knockin mice that are vital and fertile and show unaltered expression of Plgf, Vegf-a, Vegfr-1, and Vegfr-2 compared with wild-type mice.

Biomechanical comparison between stainless steel, titanium and carbon-fiber reinforced polyetheretherketone volar locking plates for distal radius fractures.

Introduction: As the popularity of volar locked plate fixation for distal radius fractures has increased, so have the number and variety of implants, including variations in plate design, the size and angle of the screws, the locking screw mechanism, and the material of the plates.

Hypothesis: Carbon-fiber reinforced polyetheretherketone (CFR-PEEK) plate features similar biomechanical properties to metallic plates, representing, therefore, an optimal alternative for the treatment of distal radius fractures.

Materials And Methods: Three different materials-composed plates were evaluated: stainless steel volar lateral column (Zimmer); titanium DVR (Hand Innovations); CFR-PEEK DiPHOS-RM (Lima Corporate).

Unilateral Papillary Cystadenoma of the Epididymis as a First Presentation of Von Hippel-Lindau Disease.

Association between papillary cystadenoma of the epididymis (PCE) and Von Hippel-Lindau Disease (VHLD) is well known and stronger for bilateral tumors. Unilateral PCE occurs either as a sporadic tumor without evidence of VHLD or in the context of a known diagnosis of VHLD, indeed it has never been reported as the first manifestation of VHLD. In contrast, we report the case of a boy with an apparently isolated, unilateral PCE that resulted to be the first manifestation of an unknown VHLD.

A Rare Case of Triceps Brachii Injury after Electrocution.

Injuries of the triceps brachii muscle are a rare entity and mostly concern its distal tendon. These represent the least common of all muscle and tendons injuries. The most common reported causes are repeated strong physical efforts, a fall on an outstretched forearm when a sudden deceleration is put on contract triceps, or a direct trauma.

Liposuction Aspirate Fluid Adipose-Derived Stem Cell Injection and Secondary Healing in Fingertip Injury: A Pilot Study.

Background: Although fingertip injuries account for a high proportion of trauma patients, the correct surgical approach is still debated. The authors compared the traditional conservative approach and a new treatment based on the injection of liposuction aspirate fluid.

Methods: Forty consecutive patients with a fingertip injury were dichotomized into group A (control group; conservative approach) and group B (treatment group).

Clinical characteristics and patient-reported outcomes in patients with inadequately controlled rheumatoid arthritis despite ongoing treatment.

Background: Despite the wide array of treatments available for rheumatoid arthritis (RA), some patients continue to report unmet clinical needs. We investigated the extent of inadequate disease control in patients with RA.

Methods: Data were drawn from the Adelphi 2014 RA Disease-Specific Program in France, Germany, Italy, Spain and the UK.

Comparison between absorbable pins and mini-screw fixations for the treatment of radial head fractures Mason type II-III.

Background: The treatment of comminuted radial head fractures can include prosthetic replacement or open reduction and internal fixation. The purpose of this study is to evaluate the results of two different internal fixation systems for Mason type II-III radial head fractures.

Methods: Between 2005 and 2015, 82 patients were treated using pins and 65 patients by mini-screws.

Role of MRI and added value of diffusion-weighted and gadolinium-enhanced MRI for the diagnosis of local recurrence from rectal cancer.

Purpose: To evaluate whether the addition of gadolinium-enhanced MRI and diffusion-weighted imaging (DWI) improves T2 sequence performance for the diagnosis of local recurrence (LR) from rectal cancer and to assess which approach is better at formulating this diagnosis among readers with different experience.

Methods: Forty-three patients with suspected LR underwent pelvic MRI with T2 weighted (T2) sequences, gadolinium fat-suppressed T1 weighted sequences (post-contrast T1), and DWI sequences. Three readers (expert: G, intermediate: E, resident: V) scored the likelihood of LR on T2, T2 + post-contrast T1, T2 + DWI, and T2 + post-contrast T1 + DWI.