Search results for "ALP"
showing 10 items of 4575 documents
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).
2000
Made available in DSpace on 2016-10-10T03:52:18Z (GMT). No. of bitstreams: 5 Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy.pdf: 167085 bytes, checksum: b445ec059ea2d0f06bd4fa913354872a (MD5) license_url: 52 bytes, checksum: 2f32edb9c19a57e928372a33fd08dba5 (MD5) license_text: 24259 bytes, checksum: f1f24f769b03eb8f9cd3f53c1090841c (MD5) license_rdf: 24658 bytes, checksum: 9d3847733d3c0b59c7c89a1d40d3d240 (MD5) license.txt: 1887 bytes, checksum: 445d1980f282ec865917de35a4c622f6 (MD5) Previous issue date: 2000 Dysferlin is the protein product of the gene (DYSF) that is defective in patients with limb girdle muscular dy…
Aromatase and amphiregulin are correspondingly expressed in human liver cancer cells
2009
Human hepatocellular carcinoma (HCC) is associated with high mortality rates, being the third most common cause of cancer death worldwide. Although estrogens have been implicated in HCC, their potential role in development and/or progression of this malignancy remains unclear. In this study we investigated mRNA and protein expression of aromatase (Aro) and amphiregulin (AREG) in relation to estrogen receptors (ERs), in HepG2, Huh7, and HA22T human malignant liver cell lines, using RT-PCR and Western blot analyses. Aro expression was significantly higher (approximately 13-fold, P= 0.003) in HepG2 cells than in Huh7 cells, while no Aro expression could be detected in HA22T cells. Interestingl…
Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical rep…
2021
Abstract Introduction Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare genetic syndrome with ectodermal dysplasia. About 100 patients have been reported to date. It is associated to a heterozygous mutation of the tumor protein p63 (TP63) gene, located on chromosome 3q28. Typical clinical manifestations include: filiform ankyloblepharon adnatum (congenital adherence of the eyelids), ectodermal abnormalities (sparse and frizzy hair, skin defects, nail alterations, dental changes and hypohidrosis), and cleft lip/palate. Diagnostic suspicion is based on clinical signs and confirmed by genetic testing. Patient’s presentation We hereb…
Current status on the adoption of high energy devices in Italy. An Italian Society for Endoscopic Surgery and New Technologies (SICE) national survey
2021
Background: In the past three decades, different High Energy Devices (HED) have been introduced in surgical practice to improve the efficiency of surgical procedures. HED allow vessel sealing, coagulation and transection as well as an efficient tissue dissection. This survey was designed to verify the current status on the adoption of HED in Italy. Methods: A survey was conducted across Italian general surgery units. The questionnaire was composed of three sections (general information, elective surgery, emergency surgery) including 44 questions. Only one member per each surgery unit was allowed to complete the questionnaire. For elective procedures, the survey included questions on thyroid…
Ustioni da elettrobisturi: contributo casistico e considerazioni medico-legali
2016
[Electrosurgery burns: case series and medico-legal issues] In general and specialist surgical practice the use of the electrosurgical unit is consolidated for minimally invasive interventions, due to the ability to control the bleeding of the operative field and the interaction between the cutting and coagulative mechanisms. The authors take inspiration from four cases of personal observation, related to thermal injury produced by electrosurgery, to conduct a brief review of the literature on this issue and present some medical and legal aspects derived from their expert’s observation, in terms of healthcare liability. The authors underline the importance of an accurate knowledge of the pr…
Retinoid receptors and vitamin A deficiency: differential patterns of transcription during early avian development and the rapid induction of RARs by…
2003
The functional links of specific retinoid receptors to early developmental events in the avian embryo are not known. Before such studies are undertaken, knowledge is required of the spatiotemporal expression patterns of the receptor genes and their regulation by endogenous retinoic acid levels during the early stages of development. Here, we report the expression patterns of mRNAs for RARalpha, RARalpha2, RARbeta2, RARgamma, RARgamma2, RXRalpha, and RARgamma from neurulation to HH10 in the normal and vitamin A-deficient (VAD) quail embryo. The transcripts for all retinoid receptors are detectable at HH5, except for RXRgamma, which is detected at the beginning of HH6. At the 4/5 somite stage…
Can stress biomarkers predict preterm birth in women with threatened preterm labor?
2017
Background: Preterm birth is a major paediatric challenge difficult to prevent and with major adverse outcomes. Prenatal stress plays an important role on preterm birth; however, there are few stress-related models to predict preterm birth in women with Threatened Preterm Labor (TPL). Objective: The aim of this work is to study the influence of stress biomarkers on time until birth in TPL women. Methods: Eligible participants were pregnant women between 24 and 31 gestational weeks admitted to the hospital with TPL diagnosis (n = 166). Stress-related biomarkers (a-amylase and cortisol) were determined in saliva samples after TPL diagnosis. Participants were followed-up until labor. A paramet…
Effects of alcohol-free beer on lipid profile and parameters of oxidative stress and inflammation in elderly women
2009
We assessed the influence of alcohol-free beer on factors implicated in atherosclerosis, such as lipid profile, oxidative stress parameters, and proinflammatory cytokines, in postmenopausal women, a population particularly at risk for atherosclerotic disease.The study was carried out in 29 nuns, 58 to 73 y old, who live in a convent with a disciplined, regular, and homogeneous lifestyle. The nuns maintained their habits and diet routine, but their meals were supplemented with 500 mL/d of alcohol-free beer (0.0%) divided into two doses over a 45-d period. Lipid profile, inflammatory markers such as C-reactive protein, interleukins 1 and 6, and tumor necrosis factor-alpha, and parameters of o…
Clinical factors affecting endometrial receptiveness in oocyte donation cycles.
2008
Objective To provide a summary of the actual knowledge about the clinical factors affecting the oocyte recipient (other than those associated with uterine cavity abnormalities) on the outcome of oocyte donation cycles. Design Review of the literature. Setting Information regarding the association between age, body mass index (BMI), endometrial priming, tobacco consumption, hydrosalpinx, and endometriosis/adenomyosis in oocyte recipients and the results of oocyte donation cycles. Result(s) Recipient age and the presence of hydrosalpinx are clearly associated with a poorer outcome in oocyte donation cycles. The negative impact of tobacco consumption has recently been confirmed. The exact rele…
Retinoid X receptor agonists impair arterial mononuclear cell recruitment through peroxisome proliferator-activated receptor-γ activation.
2012
Abstract Mononuclear cell migration into the vascular subendothelium constitutes an early event of the atherogenic process. Because the effect of retinoid X receptor (RXR)α on arterial mononuclear leukocyte recruitment is poorly understood, this study investigated whether RXR agonists can affect this response and the underlying mechanisms involved. Decreased RXRα expression was detected after 4 h stimulation of human umbilical arterial endothelial cells with TNF-α. Interestingly, under physiological flow conditions, TNF-α–induced endothelial adhesion of human mononuclear cells was concentration-dependently inhibited by preincubation of the human umbilical arterial endothelial cells with RXR…