Search results for " sequence"
showing 10 items of 3643 documents
Uterine Receptivity and the Ramifications of Ovarian Stimulation on Endometrial Function
2007
Controlled ovarian stimulation (COS) is widely used in assisted reproduction techniques (ART). However, hormonal treatment induces endometrial alterations that may alter implantation rates compared with natural cycles. Endometrial alterations have been observed by histological and biochemical techniques. The recent developments in functional genomics have provided objective tools to analyze the endometrium in natural cycles and evaluate the impact of COS protocols in endometrial development. This article describes the fundamental aspects of endometrial receptivity in natural cycles and reports how COS affects the morphology, biochemistry, and the genomic pattern of the endometrium.
Association between CCK-AR gene and schizophrenia with auditory hallucinations
2007
[Objective]: Previous studies on a possible association between CCK-AR polymorphisms and schizophrenia have been controversial. The aim of the present study was to assess a potential association between schizophrenic patients with auditory hallucinations and polymorphisms of the CCK-AR gene.
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
2010
PURPOSE. The purpose of this study was to test the ability of the genotyping microarray for Usher syndrome (USH) to identify the mutations responsible for the disease in a cohort of 183 patients with USH. METHODS. DNA from 183 patients with Usher syndrome from the Spanish population was analyzed using a genotyping microarray containing 429 previously identified disease-associated variants in eight USH genes. Mutations detected by the array were confirmed by direct sequencing. Haplotype analysis was also performed in families carrying common Spanish mutations. RESULTS. The genotyping microarray identified 43 different variants, divided into 32 disease causative and 11 probably non-pathologic…
Molecular Surveillance of HIV-1 in Madrid, Spain: a Phylogeographic Analysis ▿
2011
ABSTRACT The molecular epidemiology of HIV-1 is constantly changing, mainly as a result of human migratory flows and the high adaptive ability of the virus. In recent years, Spain has become one of Europe's main destinations for immigrants and one of the western European countries with the highest rates of HIV-positive patients. Using a phylogeographic approach, we have analyzed the relationship between HIV-1 variants detected in immigrant and native populations of the urban area of Madrid. Our project was based on two coincidental facts. First, resistance tests were extended to naïve and newly diagnosed patients, and second, the Spanish government legislated the provision of legal status t…
Cloning of two melanocortin (MC) receptors in spiny dogfish
2004
We report the cloning and characterization of two melanocortin receptors (MCRs) from the spiny dogfish (Squalus acanthias) (Sac). Phylogenetic analysis shows that these shark receptors are orthologues of the MC3R and MC5R subtypes, sharing 65% and 70% overall amino acid identity with the human counterparts, respectively. The SacMC3R was expressed and pharmacologically characterized in HEK293 cells. The radioligand binding results show that this receptor has high affinity for adrenocorticotropic hormone (ACTH)-derived peptides while it has comparable affinity for alpha- and beta-melanocyte stimulating hormone (MSH), and slightly lower affinity for gamma-MSH when compared with the human ortho…
Patient-to-patient transmission of hepatitis C virus (HCV) during colonoscopy diagnosis
2010
Abstract Background No recognized risk factors can be identified in 10-40% of hepatitis C virus (HCV)-infected patients suggesting that the modes of transmission involved could be underestimated or unidentified. Invasive diagnostic procedures, such as endoscopy, have been considered as a potential HCV transmission route; although the actual extent of transmission in endoscopy procedures remains controversial. Most reported HCV outbreaks related to nosocomial acquisition have been attributed to unsafe injection practices and use of multi-dose vials. Only a few cases of likely patient-to-patient HCV transmission via a contaminated colonoscope have been reported to date. Nosocomial HCV infecti…
Efficacy and Safety of Using High-Flow Nasal Oxygenation in Patients Undergoing Rapid Sequence Intubation
2017
Objective To assess the efficacy and safety of high-flow nasal oxygen (HFNO) therapy in patients undergoing rapid sequence intubation (RSI) for emergency abdominal surgery. Methods HFNO of 60 L.min-1 at an inspiratory oxygen fraction of 1 was delivered 4 min before laryngoscopy and maintained until the patient was intubated, and correct intubation was verified by the appearance of the end-tidal CO2 (EtCO2) waveform. Transcutaneous oxygenation (SpO2), heart rate and non-invasive mean arterial pressure were monitored at baseline (T0), after 4 min on HFNO (T1) and at the time of laryngoscopy (T2) and endotracheal intubation (ETI) (T3). An SpO2 of <3% from baseline was recorded at any sampled t…
Pharmacological Characterization of Loss of Function Mutations of the Human Melanocortin 1 Receptor That Are Associated with Red Hair
2004
Variation in skin color is the major host risk factor for melanoma and other forms of skin cancer. Individuals with red hair show an increased ratio of phaeomelanin to eumelanin in both hair and skin. This ratio is regulated by the melanocortin (MC) 1 receptor. There are several common point mutations in the human MC1 receptor that are overrepresented in North European red-heads, and in individuals with pale skin. In order to determine the functional significance of these mutations, we expressed the Asp84Glu, Val92Met, Arg163Gln, and Asp294His variants of the human MC1 receptors in eukaryotic cells and determined their ability to bind alpha-melanocyte stimulating hormone (MSH) peptides and …
Expression and cellular localization of kininogens in the human kidney
1996
Expression and cellular localization of kininogens in the human kidney. Human high (H) and low (L) molecular weight kininogens are encoded by distinct mRNAs derived by alternative splicing from a single kininogen gene. Previous studies have demonstrated the presence of L-kininogen but not of H-kininogen in the distal nephron structures of the kidney. Using the highly sensitive reverse trancriptase-polymerase chain reaction (RT-PCR) we have been able to demonstrate the expression of both H-kininogen mRNA and L-kininogen mRNA in kidney and liver. The presence of H- and L-kininogen antigen was shown immunohistochemically by applying specific antibodies that discriminate between the two types o…
Nonceliac gluten sensitivity.
2014
During the past decade there has been an impressive increase in popularity of the gluten-free diet (GFD)—now the most trendy alimentary habit in the United States and other countries. According to recent surveys, as many as 100 million Americans will consume gluten-free products within a year. Operating under the concept that the GFD benefits only individuals with celiac disease, health care professionals have struggled to separate the wheat from the chaff; there are claims that eliminating gluten from the diet increases health and helps with weight loss, or even that gluten can be harmful to every human being. However, apart from unfounded trends, a disorder related to ingestion of gluten …