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Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder believed to be exclusively caused by mutations in the CYP27A1 gene coding for the enzyme sterol 27-hydroxylase. Common findings in CTX are tendon xanthomas, cataracts and progressive neurological dysfunction. Here, we characterize an adult female patient with tendon xanthomas and classic biochemical findings of CTX (i.e. h
In diploid animals, males and females share most of the genome (except sex-specific elements, such as sex chromosome genes), yet despite sharing the underlying genes that hard-wire traits, males and females may differ in their phenotypes when traits are controlled by proximate mechanisms, such as hormones. In color polymorphic species where coloration is only expressed in one sex, the design of st
Visceral leishmaniasis (VL) is a potentially fatal vector-borne zoonotic disease, which has become an increasing public health problem in the north-western part of Iran. This work presents an environmental health modelling approach to map the potential of VL outbreaks in this part of the country. Radial basis functional link networks is used as a data-driven method for predictive mapping of VL in
The enantiospecific synthesis of several bicyclic enones starting from enantiomerically pure (+)-(1S,5S)-bicyclo[3.3.1]-nonane-2,6-dione (1) was accomplished. The target enones 7-9 were obtained in high yield and purity by using a catalytic amount of benzeneselenic anhydride. (+)-(1S,5R)-bicy-clo[3.3.1]inonane-2,3,6-trione was obtained from diketone 1 by alpha-hydroxylation involving the use of io
The primary structure of mouse SVS I was determined by peptide sequencing and nucleotide sequencing of cloned cDNA. The precursor molecule consists of 820 amino acid residues, including a signal peptide of 24 residues, and the mature polypeptide chain of 91 kDa has one site for potential N-linked glycosylation. The SVS I is homologous with amiloride-binding protein 1 (ABP1), a diamine oxidase. How
Object. Cerebral vasospasm following subarachnoid hemorrhage (SAH) leads to reduced blood flow in the brain. Inspired by organ culture-induced changes in the receptor phenotype of cerebral arteries, the authors investigated possible changes in the 5-hydroxytryptamine (HT) receptor phenotype after experimental SAH. Methods. Experimental SAH was induced in rats by using an autologous prechiasmatic i
PURPOSE. To characterize the spectrum of mutations in the OPA1 gene in a large international panel of patients with autosomal dominant optic atrophy (adOA), to improve understanding of the range of functional deficits attributable to sequence variants in this gene, and to assess any genotype-phenotype correlations. METHODS. All 28 coding exons of OPA1, intron-exon splice sites, 273 bp 5' to exon 1
Breast cancer is a rare disease in men, affecting less than 0.1% of the male population. Two heritable gene defects have been associated with a predisposition to male breast cancer development, ie., germ-line mutations in the breast cancer susceptibility gene BRCA2 and the androgen receptor (AR) gene. In this study, the entire coding regions of BRCA2 and AR were screened for mutations in 34 consec
The aim of this study was to elicit reference data representative of normal findings at transvaginal gray-scale and Doppler ultrasound examination of the uterus and ovaries in postmenopausal women. A total of 144 asymptomatic postmenopausal women with normal findings at clinical gynecological examination were included in the study. They underwent transvaginal sonography including Doppler measureme
To evaluate the dose values predicted by several calculation algorithms in two treatment planning systems, Monte Carlo (MC) simulations and measurements by means of various detectors were performed in heterogeneous layer phantoms with water- and bone-equivalent materials. Percentage depth doses (PDDs) were measured with thermoluminescent dosimeters (TLDs), metal-oxide semiconductor field-effect tr
BACKGROUND: Anal sphincter rupture is a serious complication of vaginal delivery and almost half the affected women have persistent defecatory symptoms despite adequate primary repair. During the past decade, the incidence of anal sphincter ruptures has been increasing in Sweden and is currently estimated to occur in 2.5% of vaginal deliveries. The aim of the study was to report the frequency of a
The aim of the present study was to find clinical parameters affecting incidence and progression of nephropathy in type 2 diabetic patients. A prospective study for 10 years was performed in 385 type 2 diabetic patients (diabetes diagnosis > or =30 years) attending a hospital-based outpatient clinic. Medical risk indicators like diabetes duration, HbA(1c), and blood pressure were related to the de
Conceptual metaphor theory (CMT) is one of the most prolific frameworks in the study of emotion concepts. Following the seminal work of Lakoff and Johnson (1980) and subsequent work by Kövecses (1986, 1990) and Kövecses and Lakoff (1987), an impressive number of studies in cognitive linguistics and psycholinguistics have sought to document and confirm the claim that conceptual metaphor (CM) struct
The rate of spontaneous pregnancies in women with Turner syndrome (TS) is low (2% to 5%). Oocyte donation is an option for these women and enables many to become pregnant. Some investigators question the use of pregnancy induction in TS because of the high risk for aortic dissection or other serious cardiac events. A cardiac evaluation is recommended before pregnancy is planned in TS. Among patien
Background: Thiazolidinediones are antidiabetic agents that improve insulin sensitivity (IS). Accumulating data indicate that these agents provide beneficial effects beyond glycemic control, such as improvement in vascular function. The aim of this study was to determine the effect of rosiglitazone on urine albumin excretion (UAE) in patients with type 2 diabetes mellitus (DM) and hypertension. Me
Objectives. To investigate the association between means of transportation to work and overweight+obesity and obesity. Methods. The 2004 public health survey in Sk (a) over circle ne is a cross-sectional postal questionnaire study of the population aged 18-80 with a 59% response rate including 16,705 employed participants. Results. Forty-six percent of men and 26.6% of women were overweight (BMI
Background: The cell surface glycoprotein E-cadherin (CDH1) is a key regulator of adhesive properties in epithelial cells. Germline mutations in CDH1 are well established as the defects underlying hereditary diffuse gastric cancer (HDGC) syndrome, and an increased risk of lobular breast cancer (LBC) has been described in HDGC kindreds. However, germline CDH1 mutations have not been described in pa
The acyl-coenzyme A-binding proteins (ACBPs) contain 26 highly conserved sequence positions. The majority of these have been mutated in the bovine protein, and their influence on the rate of two-state folding and unfolding has been measured. The results identify eight sequence positions, out of 24 probed, that are critical for fast productive folding. The residues are all hydrophobic and located i
