Search results for " PI"
showing 10 items of 6620 documents
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations
2011
Abstract Background Usher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP). Among the three genes implicated, mutations in the USH2A gene account for 74-90% of the USH2 cases. Methods To identify the genetic cause of the disease and determine the frequency of USH2A mutations in a cohort of 88 unrelated USH Spanish patients, we carried out a mutation screening of the 72 coding exons of this gene by direct sequencing. Moreover, we performed functional minigene studies for those changes that were predicted to affect splicing. Results As a result, a total of 144 DNA sequence variants were identified.…
Study of lip hydration with application of photoprotective lipstick : influence of skin phototype, size of lips, age, sex and smoking habits
2009
Objectives: To study lip hydration levels when applying a lipstick sunscreen for 3 months and to evaluate the influence of size of lips, age, sex, smoking and skin phototype. Study design: The study group was formed by 140 volunteer subjects, one group consisting of 70 patients applying a commercial lipstick sunscreen three times a day and the other group of 70 controls in which no product was applied. The age range was 20-86 years. The influence in lip hydration levels of age, sex, phototype, size of the lips and smoking habits was studied using a Corneometer 825® (Courage and Khazaka Electronic GmbH, Cologne, Germany). Results: An increase in lip hydration was found between the basal (53.…
Trends and Prevalence of Nocturia Among US Adults, 2005-2016
2019
Purpose: Increased nocturia episodes can be a clinical marker of poor health status. The present study aimed to evaluate patterns and temporal trends in nocturia and sociodemographic and lifestyle correlates in the US population. Methods: Participants, aged 20 years or older, were included in this repeated cross-sectional study. The National Health and Nutrition Examination Survey from 2005 to 2016 was used. Participants were asked “During the past 30 days, how many times per night did you most typically get up to urinate, from the time you went to bed at night until the time you got up in the morning?”. Individuals were categorized as either ≥ 1 nocturia episode or ≥ 2 nocturia episodes pe…
Studies on the subcellular pathophysiology of sublethal chronic cell injury.
1974
Summary This paper summarizes some of the important subcellular events occurring after chronic sublethal cell injury. Chronic cell injury is defined as the result of injurious stimuli which permit cell survival though in altered steady states for protracted periods of time. The importance of ultrastructural and biochemical studies of these phenomena is emphasized. Among the phenomena discussed are alterations in lysosomes, cellular hypertrophy, fatty metamorphosis, alterations in microfilaments and microtubules, alterations in mechanisms of transcription and replication, disturbances in the cell surface and transport across the cell membrane, and alterations in intracellular transport.
Aqueous Humor Levels of Vascular Endothelial Growth Factor in Retinitis Pigmentosa
2008
PURPOSE To determine the level of vascular endothelial growth factor A (VEGF-A) in aqueous humors of patients with retinitis pigmentosa (RP). METHODS A prospective, comparative control study. Aqueous humor was collected from 16 eyes of 16 patients with RP. The level of VEGF-A was determined with a commercially available enzyme-linked immunosorbent assay kit. The control group comprised 16 aqueous samples from 16 patients about to undergo cataract surgery and without any other ocular or systemic diseases. RESULTS The concentration of VEGF-A in aqueous humor was markedly lower in patients with RP than in control subjects (Mann-Whitney U test, P < 0.001). The level of VEGF-A was 94.9 +/- 99.8 …
The Auditory Kuleshov Effect: Multisensory Integration in Movie Editing
2016
Almost a hundred years ago, the Russian filmmaker Lev Kuleshov conducted his now famous editing experiment in which different objects were added to a given film scene featuring a neutral face. It is said that the audience interpreted the unchanged facial expression as a function of the added object (e.g., an added soup made the face express hunger). This interaction effect has been dubbed “Kuleshov effect.” In the current study, we explored the role of sound in the evaluation of facial expressions in films. Thirty participants watched different clips of faces that were intercut with neutral scenes, featuring either happy music, sad music, or no music at all. This was crossed with the facia…
The big picture: effects of surround on immersion and size perception.
2014
Despite the fear of the entertainment industry that illegal downloads of films might ruin their business, going to the movies continues to be a popular leisure activity. One reason why people prefer to watch movies in cinemas may be the surround of the movie screen or its physically huge size. To disentangle the factors that might contribute to the size impression, we tested several measures of subjective size and immersion in different viewing environments. For this purpose we built a model cinema that provided visual angle information comparable with that of a real cinema. Subjects watched identical movie clips in a real cinema, a model cinema, and on a display monitor in isolation. Wher…
Methodological Aspects of the Application of the Naka-Rushton Equation to Clinical Electroretinogram
1993
The nonlinear relation between stimulus intensity and response amplitude of the electroretinogram (ERG) scotopic b wave can be described by a curve based on the Naka-Rushton (NR) equation. Up to now, the NR equation has been used to assess the features of the normal and pathological ERG, but the best approach for a correct evaluation of the parameters is still debatable. The parameters are thought to be related to the different conditions of retinal activities. The method is well known in experimental laboratories but is quite unusual at the clinical level. In the present paper the derivative analysis of the NR function is proposed as an easier approach to understand the variations of the N…
Evidence of noncentrosymmetry of human tooth hydroxyapatite crystals
2014
Herein, we investigate human single hydroxyapatite crystals (enamel and dentine) by convergent-beam electron diffraction (CBED) and automated electron-diffraction tomography (ADT). The CBED pattern shows the absence of the mirror plane perpendicular to the c axis leading to the P63 space group instead of the P63 /m space group considered for larger-scale crystals, this is confirmed by ADT. This experimental evidence is of prime importance for understanding the morphogenesis and the architectural organization of calcified tissues.
The neuroendocrinological profile of roxindole, a dopamine autoreceptor agonist, in schizophrenic patients
1995
Roxindole is a potent autoreceptor-selective dopamine agonist with additional properties as a serotonin reuptake inhibitor and 5-HT1A agonist. In order to get more insight into its mode of action in various psychiatric populations, we evaluated the effects of subchronic roxindole treatment on pituitary and adrenal hormone secretion, i.e. release of prolactin, thyroid stimulating hormone (TSH), growth hormone (GH), luteinizing hormone (LH), and cortisol. Fifteen schizophrenic patients with positive and negative symptomatology, respectively, were treated with roxindole for 28 days. Both basal and thyrotropin releasing hormone (TRH) -induced prolactin secretion diminished significantly to 26.4…