Genome-wide activity of unliganded estrogen receptor-α in breast cancer cells.

Estrogen receptor-α (ERα) has central role in hormone-dependent breast cancer and its ligand-induced functions have been extensively characterized. However, evidence exists that ERα has functions that are independent of ligands. In the present work, we investigated the binding of ERα to chromatin in the absence of ligands and its functions on gene regulation.

Pure anti-tumor effect of zoledronic acid in naïve bone-only metastatic and locally advanced breast cancer: proof from the "biological window therapy".

The study investigated the anti-tumour effect of zoledronic acid (ZA) administered alone in a biological window therapy in naïve bone-only metastatic and locally advanced breast cancer (LABC) patients. 33 patients with LABC (Group 1) and 20 patients with a first diagnosis of bone metastasis only (Group 2) received 4 mg single dose of ZA, 14 days (biological window) before starting any treatment. In Group 1, Ki67, CD34, p53/bcl-2 and caspase 3 expression along with the adenosine triphosphate (ATP) levels and RNA disruption index were evaluated as markers of tumor growth in tumour specimens obtained before and after ZA administration (basal, day 14).

Assessment of energy-saving strategies and operational costs in full-scale membrane bioreactors.

The energy-saving strategies and operational costs of stand-alone, hybrid, and dual stream full-scale membrane bioreactors (MBRs) with capacities ranging from 1100 to 35,000 m(3) day(-1) have been assessed for seven municipal facilities located in Northeast Spain. Although hydraulic load was found to be the main determinant factor for the energy consumption rates, several optimisation strategies have shown to be effective in terms of energy reduction as well as fouling phenomenon minimization or preservation. Specifically, modifications of the biological process (installation of control systems for biological aeration) and of the filtration process (reduction of the flux or mixed liquor suspended solids concentration and installation of control systems for membrane air scouring) were applied in two stand-alone MBRs.

Genomic lens on neuroglobin transcription.

Neuroglobin is a brain globin with neuroprotective effects against ischemia and related pathological processes, acting as O2 sensor and antiapoptotic pathway transducer. Here, we survey data on neuroanatomical coexpression of transcription factors, epigenetic signature and predictive transcription factor binding sites at the neuroglobin gene locus to find hints of pathways to neuroglobin transcriptional regulation. These data provide a glimpse of how neuroglobin expression may translate into neuronal diversity and function, as well as disease.

Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome.

Bannayan-Riley-Ruvalcaba syndrome (BRRs) is an overgrowth disorder characterized by macrocephaly, pigmented maculae of the glans penis, and benign mesodermal hamartomas (primarily subcutaneous and visceral lipomas, multiple hemangiomas, and intestinal polyps). Dysmorphic features as well as delayed neuropsychomotor development can also be present. These patients have also a higher risk of developing tumors, as the gene involved in BRRs is phosphatase and tensin homologue (PTEN), and up to 30% of the patients have thyroid involvement consistent with multinodular goiter, thyroid adenoma, differentiated non-medullary thyroid cancer, or Hashimoto's thyroiditis.

Prevalence of Beckwith-Wiedemann syndrome in North West of Italy.

Although Beckwith-Wiedemann syndrome (BWS, OMIM #130650) is the most common genetic overgrowth disorder, data on its epidemiology are scanty and the estimates of its occurrence show wide variability. The aim of this study is to assess its prevalence in Piedmont Region (Italy). We included in the study all patients diagnosed with BWS born in Piedmont from 1997 to 2009 through a search in the Italian Registry for Rare Diseases.

Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.

Noonan syndrome (NS) is an autosomal dominant disorder, characterized by short stature, multiple dysmorphisms and congenital heart defects. A myeloproliferative disorder (NS/MPD), resembling juvenile myelomonocytic leukemia (JMML), is occasionally diagnosed in infants with NS. In the present study, we performed a functional evaluation of the circulating hematopoietic progenitors in a series of NS, NS/MPD and JMML patients.

High-resolution ultrasound of the extrinsic carpal ligaments.

Thanks to its intrinsic high spatial resolution, ultrasound is an ideal imaging modality for examining very thin, superficial structures, and this makes it very helpful in the evaluation of extrinsic carpal ligaments. These structures, which arise from the radius and ulna and insert on the carpal bones, are extremely important for wrist stability. Previous studies have assessed the use of ultrasound to study the extrinsic carpal ligaments in cadavers, healthy asymptomatic subjects, and patients with rheumatoid arthritis.

Ultrasound-guided injection of platelet-rich plasma in chronic Achilles and patellar tendinopathy.

Purpose: The efficacy of platelet-rich plasma (PRP) in the treatment and healing of chronic tendinopathy through stimulation of cell proliferation and total collagen production has been demonstrated by both in vitro and in vivo studies. The aim of this study is to evaluate the effectiveness of ultrasound (US)-guided autologous PRP injections in patellar and Achilles tendinopathy.

Materials And Methods: Autologous PRP was injected under US-guidance into the Achilles and patellar tendons (30 Achilles tendons, 28 patellar tendons) in 48 prospectively selected patients (30 males, 18 females, mean age 38 ± 16 years, range 20-61 years).

Progressive extreme heterotopic calcification.

The formation of ectopic calcifications in soft tissues can occur either sporadically or as a genetically determined condition, and is seen only infrequently. We report on a girl in whom widespread, rapidly progressive ectopic calcifications were detected shortly after birth. Calcifications became present around all joints, tendons and ligaments, but did not involve internal organs and skin, and eventually caused almost complete immobility of the child at 2 years.

Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: a variant of polyfibromatosis?

Polyfibromatosis is a rare fibrosing condition characterized by fibromatosis in different body areas and by keloid formation, and which can be associated with arthropathy and osteolysis. Familial occurrence has been described, but the cause remains unknown. Here, we describe a patient with characteristics of polyfibromatosis with arthropathy who had in addition severe conjunctival fibrosis, distinctive face, gingival overgrowth, and pigmented keloids.

Preliminary ultrasound evaluation of the rotator cable in asymptomatic volunteers().

Purpose: To characterize the rotator cable high-resolution ultrasound appearance in asymptomatic shoulders of volunteers of different age.

Materials And Methods: IRB approval and volunteers' written consent was obtained. Excluding subjects with known shoulder affections, we screened 24 asymptomatic volunteers.

Real-time sonoelastography of the plantar fascia: comparison between patients with plantar fasciitis and healthy control subjects.

Purpose: To evaluate the use of axial-strain real-time sonoelastography in patients with plantar fasciitis compared with that in healthy control subjects.

Materials And Methods: Institutional review board approval and patients' consent were obtained. Eighty feet of 80 patients (43 men, 37 women; mean age ± standard deviation, 46.

Multimodality imaging of intraosseous ganglia of the wrist and their differential diagnosis.

Intraosseous ganglion (IOG) is the most frequently occurring bone lesion within the carpus and is often an incidental finding on radiographs obtained for other reasons. Two types of IOG have been described: an "idiopathic" form (or type I), the pathogenesis of which has not been completely clarified, and a "penetrating" form (or type II), caused by the intrusion of juxtacortical material (often a ganglion cyst of the dorsal soft tissue) into the cancellous bone compartment. The differential diagnosis for IOG is wide-ranging and complex, including lesions of posttraumatic (posttraumatic cystlike defects), degenerative (subchondral degenerative cysts), inflammatory [cystic rheumatoid arthritis, chronic tophaceous gout (CTG)], neoplastic (benign primary bone tumours and synovial proliferative lesions), ischaemic (Kienböck's disease or avascular osteonecrosis of the lunate) and metabolic (amyloidosis) origin.

Automatic control systems for submerged membrane bioreactors: a state-of-the-art review.

Membrane bioreactor (MBR) technology has become relatively widespread as an advanced treatment for both industrial and municipal wastewater, especially in areas prone to water scarcity. Although operational cost is a key issue in MBRs, currently only a few crucial papers and inventions aimed to optimise and enhance MBR efficiency have been published. The present review summarises the available solutions in the area of automatic control systems and widely explores the advances in automation and control for MBRs.

790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism.

We report a patient with a moderate mental retardation, afebrile seizure, mild dysmorphic features and type 2 diabetes mellitus with mild obesity and metabolic syndrome. Array-CGH analysis revealed a de novo 790-830 kb duplication on chromosome 17p13.1, not reported so far.

Imaging studies of crystalline arthritides.

Gout, calcium pyrophosphate dihydrate (CPPD) deposition disease, and calcium hydroxyapatite deposition disease (HADD) are the three most common crystal-induced arthropathies. Multimodality imaging may help in their diagnosis, and is useful for a precise and comprehensive assessment and grading of the related osteoarticular damage. Plain film radiography, due to its low cost and wide availability, is the first imaging technique to be used in crystal deposition diseases, providing well-known and specific findings for CPPD deposition disease and HADD, while it may undergrade the early osteoarticular lesions in gouty patients.

Defective retinal vascular endothelial cell development as a consequence of impaired integrin αVβ8-mediated activation of transforming growth factor-β.

Deletions of the genes encoding the integrin αVβ8 (Itgav, Itgb8) have been shown to result in abnormal vascular development in the CNS, including prenatal and perinatal hemorrhage. Other work has indicated that a major function of this integrin in vivo is to promote TGFβ activation. In this paper, we show that Itgb8 mRNA is strongly expressed in murine Müller glia and retinal ganglion cells, but not astrocytes.

Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.

Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is genetically heterogeneous, being caused by germline mutations affecting various genes implicated in the RAS signaling network. This network transduces extracellular signals into intracellular biochemical and transcriptional responses controlling cell proliferation, differentiation, metabolism, and senescence.

Knowledge-based control module for start-up of flat sheet MBRs.

In start-up periods low MLSS concentration may lead to fouling phenomena and uncommon frequency of chemical cleanings using membrane bioreactors. A knowledge-based control module for the optimisation of start-up procedures in membrane bioreactors is presented and validated in this paper. The main objective of the control module is to accelerate the growth of MLSS and the achievement of the design flux while minimising the fouling phenomenon during start-up periods.

The kinase c-Src and the phosphatase TC45 coordinately regulate c-Fos tyrosine phosphorylation and c-Fos phospholipid synthesis activation capacity.

Our previous work showed that in T98G cells, a human glioblastoma multiforme-derived cell line, the association of c-Fos to the endoplasmic reticulum (ER) and consequently, the capacity of c-Fos to activate phospholipid synthesis, is regulated by the phosphorylation state of tyrosine (tyr) residues #10 and #30 of c-Fos. The small amount of c-Fos present in quiescent cells is tyr-phosphorylated, is dissociated from the ER membranes and does not activate phospholipid synthesis. However, on induction of the cell to re-enter growth, c-Fos expression is rapidly induced, it is found dephosphorylated, associated to ER membranes and activating phospholipid synthesis (Portal et al.

Ultrasound assessment of the rotator cuff cable: comparison between young and elderly asymptomatic volunteers and interobserver reproducibility.

Our aim was to characterize rotator cable ultrasound appearance in shoulders of different-aged asymptomatic volunteers, also estimating interobserver reproducibility. We studied 83 shoulders in 42 young volunteers (mean age 26 ± 7.0 years, range 21-35 years) and 66 shoulders in 36 elderly volunteers (65-81 years, 73 ± 4.

Relative burden of large CNVs on a range of neurodevelopmental phenotypes.

While numerous studies have implicated copy number variants (CNVs) in a range of neurological phenotypes, the impact relative to disease severity has been difficult to ascertain due to small sample sizes, lack of phenotypic details, and heterogeneity in platforms used for discovery. Using a customized microarray enriched for genomic hotspots, we assayed for large CNVs among 1,227 individuals with various neurological deficits including dyslexia (376), sporadic autism (350), and intellectual disability (ID) (501), as well as 337 controls. We show that the frequency of large CNVs (>1 Mbp) is significantly greater for ID-associated phenotypes compared to autism (p = 9.