Search results for "BN"
showing 10 items of 1136 documents
Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa
1995
Two autosomal dominant retinitis pigmentosa families of different origin were screened for rhodopsin mutations using the method of single strand conformation polymorphism and direct sequencing. We found a CGG-CAG substitution in codon 114 of rhodopsin in both families. This change predicted the replacement of a glycine by an aspartic acid and suggested that this change is the cause of the disease in these families.
Sacral bladder denervation for treatment of detrusor hyperreflexia and autonomic dysreflexia
2001
Objectives. Detrusor hyperreflexia after spinal cord injury may cause urinary incontinence and chronic renal failure. In patients refractory to conservative treatment and not eligible for ventral sacral root stimulation for electrically induced micturition, we investigated the therapeutic value of sacral bladder denervation as a stand-alone procedure. Methods. Nine patients (8 men and 1 woman) between 21 and 58 years old (mean 30.2) with traumatic suprasacral spinal cord lesions underwent sacral bladder denervation for treatment of detrusor hyperreflexia and/or autonomic dysreflexia. Results. Detrusor hyperreflexia and autonomic dysreflexia were eliminated in all cases. Bladder capacity inc…
Dependence of Perceived Purity of a Chromatic Stimulus on Saturation Adaptation
2012
Background and Objective. The purpose of sensory adaptation of the visual system is to adjust sensitivity of the photoreceptors to optimize the dynamic range of response of the visual system. It has been shown in numerous research papers that chromatic adaptation influences both color appearance and color discrimination. However, there are almost no studies in which the influence of chromatic adaptation on perceived purity has been investigated. Therefore, the aim of this study was to investigate how chromatic adaptation to stimuli with certain saturation influences perceived purity of test stimuli with the same hue but different saturation. Material and Methods. As the stimuli were modulat…
Dental developmental alterations in patients with dilacerated teeth.
2018
Background The aim of this study was to record and analyze all DDAs associated to dilacerated teeth in patients attending the clinics of the Postgraduate Division, Facultad de Odontología, UNAM in Mexico City. Material and Methods Orthopantomograms from all patients seeking for stomatological attention in our institution were reviewed and those cases of dilaceration were separated. Age, gender, diagnosis, location, involved teeth and associated DDAs were recorded and analyzed. Results From 6,340 patients, 99 (1.6%) harbored 125 dilacerated teeth. Of them, 45 (45.5%) showed one or more DDAs. The most frequently detected DDAs were hypodontia, enamel pearls, taurodontism and microdontia. Concl…
Exogenous and endogenous provocation of psoriasis. A contribution to the Koebner phenomenon.
1974
Previous literature reports as well as own investigations concerning exogenously and endogenously induced Koebner-reactions in psoriatics are presented. The time interval between irritation and the Koebner-reaction is emphasized. It is proposed, that the intensity of the psoriatic reaction is mediated by circulating DHEA-deficiency. Hypothetical models are presented which allow to explain the different developmental rates of psoriatic lesions in relation to the type of irritation, the area affected and the subsequent proliferative responses.
High incidence of chromosomal abnormalities in large-headed and multiple-tailed spermatozoa
2006
Rodrigo Vivo, Lorena, lorovi@alumni.uv.es ; Prados Dodd, Nicolas, Nicolas.Prados@uv.es ; Gil Salom, Manuel Luis, Manuel.Gil-Salom@uv.es ; Remohi Gimenez, Jose Alejandro, J.Alejandro.Remohi@uv.es
Two complementary recombinant chromosomes 5 in a healthy woman
2005
We report a healthy woman with two abortions who is a carrier for a rare heterozygous double recombinant of an inv(5) chromosome, karyotype 46,XX,rec(5)dup(5p) inv(5)(pl 3q22),rec(5)dup(5q)inv(5)(pl 3q22). Her father had a 46,XY,inv(5)(p13q22) karyotype; his consanguineous wife had died. Molecular investigation of 11 highly polymorphic markers spanning chromosome 5 revealed biparental inheritance for two markers (D5S406, D5S681) on 5p15.3 and 5q13.1, and an allele constellation not compatible with paternal heterodisomy for marker D5S623 on 5q11.2. Eight markers were not informative. Three mechanisms of formation are proposed: First, fertilization of a normal oocyte by a sperm carrying the t…
MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissec…
2014
Thoracic aortic aneurysm and dissection (TAAD) is an autosomal-dominant disorder with major life-threatening complications. The disease displays great genetic heterogeneity with some forms allelic to Marfan and Loeys-Dietz syndrome, and an important number of cases still remain unexplained at the molecular level. Through whole-exome sequencing of affected members in a large TAAD-affected family, we identified the c.472CT (p.Arg158(∗)) nonsense mutation in MFAP5 encoding the extracellular matrix component MAGP-2. This protein interacts with elastin fibers and the microfibrillar network. Mutation screening of 403 additional probands identified an additional missense mutation of MFAP5 (c.62GT …
Subcortical somatosensory evoked potentials after median nerve stimulation in children.
2000
We report our normative data of subcortical somatosensory evoked potentials (SEPs) after median nerve stimulation from a group of 55 children 4–15 years of age and 18 young adults 18–29 years of age. We recorded near-field potentials from the brachial plexus, the cervical cord and the somatosensory cortex. The far-field potentials P13, P14 and N18 from the brainstem were recorded from the scalp electrodes, when a non-cephalic reference at the contralateral Erb's point or an ear reference was used. The N9 (brachial plexus), N13a (dorsal horn), P13 (caudal medulla oblongata), N18 (medulla oblongata) and N20 (somatosensory cortex) were present in all subjects. The N13b (dorsal column near the …
Cancer incidence rate ratios of Turkish immigrants in Hamburg, Germany: A registry based study
2009
The aim of this Study was to estimate cancer incidence rate ratios for Turkish migrants in Hamburg, Germany. We used a name-based approach and identified 1346 cases with Turkish names (as a proxy of Turkish origin) among 140,249 cases of cancer registered in the cancer registry Hamburg during 1990-2005. To estimate the size of the denominator population, we applied the name-based approach to the population of Hamburg as well. The cancer incidence of specific cancer sites was compared between Turkish and non-Turkish cases using incidence rate ratios (IRR), stratified by gender and birth cohort. Our main findings are that cancer of the respiratory organs is diagnosed less frequent among Turki…