Search results for "GENETICS"

Klinischer Verlauf und Narbenentwicklung beim operierten vesico-renalen Reflux in einer Langzeitbeobachtung

1985

62 patients (14 boys, 48 girls) representing 85 refluxive renal units (Grade 2-4) were investigated after successful operation for the development of further urinary tract infections (UTI) and renal scars (RS). The mean follow-up was 9.3 years. With the exception of one boy, none of the male patients developed any UTI or new RS. A similar result was obtained for about 45% of the girls. These two groups of patients presented with high-grade reflux before surgery. The remaining female patients (about 55%), however, presenting with lower-grade reflux before surgical treatment, developed further UTI as well as new RS despite surgical correction of their reflux. Investigations on the capacity of…

Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: Further evidence for a putative gene on 4q

2003

We report a newborn girl with a de novo terminal 4q deletion (q31.3 → qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal onset of growth deficiency. Laboratory studies showed excessive urinary calcium excretion on standard milk formula and on oral calcium load. Blood measurements of parathyroid hormone, calcitonin, bicarbonate, calcium, phosphorus, magnesium, sodium, chlorine, potassium, and urinary measurements of phosphorus, magnesium, sodium, chlorine, potassium were normal for age. At 2 months of life, ultrasonography showed kidney calcifications. Clinical and laboratory data support the d…

Communal data work: Data sharing and re-use in clinical genetics

2019

In this article, we examine work with communal data in the context of clinical genetic testing. Drawing from prior research on digital research infrastructures and from the analysis of our empirical data on genetic testing, we describe how data generated in laboratories distributed all over the world are shared and re-used. Our research findings point to six different human-driven activities related to expanding, disambiguating, sanitizing and assessing the relevance, validity and combinability of data. We contribute to research within Health Informatics with a framework that foregrounds human-driven activities for data interoperability.

Sinusoidal endothelial liver cells in vitro release endothelin — Augmentation by transforming growth factorβ and Kupffer cell-conditioned media

1991

Endothelin is the most potent vasoconstrictor peptide known today. Using a radioimmunoassay for endothelin, we measured immunoreactive endothelin in culture media of guinea pig sinusoidal endothelial liver cells and human umbilical vein endothelial cells. A time-dependent release of immunoreactive endothelin by confluent sinusoidal endothelial liver cells in culture was found. Sinusoidal endothelial liver cells produced similar amounts of immunoreactive endothelin as umbilical vein endothelial cells, about 900 pg/microgram DNA per 24 h. In the presence of transforming growth factor beta a dose-dependent increase of immunoreactive endothelin release was measured. The maximal increase of 50% …

Separation of left atrium from right pulmonary artery: a new echocardiographic sign of pericardial effusion.

1981

We report a new echocardiographic sign of pericardial effusion in patients with pericardial effusion examined by the suprasternal approach. In normal individuals the right pulmonary artery is closely connected with the superior wall of the left atrium. A separation of these structures is only to be noticed during atrial contraction. In 12 of 17 patients with a pericardial effusion observed a separation of the left atrium from the right pulmonary artery ranging from 3 to 20 mm throughout the cardial cycle. We suggest that this echo-free zone represents fluid in the transverse pericardial sinus which is located between the two structures. In five patients with a small pericardial effusion (le…

A leptin missense mutation associated with hypogonadism and morbid obesity

1998

Cigarette smoke extract activates human bronchial epithelial cells affecting non-neuronal cholinergic system signalling in vitro.

2010

Abstract Aims Acetylcholine (ACh) is synthesized by Choline Acetyl-Transferase (ChAT) that exerts its physiological effects in airway epithelial cells via muscarinic receptor (MR) activation. We evaluate the effect of ACh stimulation on human bronchial epithelial cells (16-HBE) and test whether cigarette smoke extract (CSE) can modify the basal cellular response to ACh affecting the non-neuronal cholinergic system signalling. Main methods ACh stimulated 16-HBE were tested for ACh-binding, Leukotriene B 4 (LTB 4 ) release and ERK1/2 and NFkB pathway activation. Additionally, we investigated all the aforementioned parameters as well as ChAT and MR proteins and mRNA expression and endogenous A…

Topical Airway Anesthesia for Awake-endoscopic Intubation Using the Spray-as-you-go Technique with High Oxygen Flow

2017

A patient's willingness to cooperate is an absolute precondition for successful awake intubation of the trachea. Whilst drug-sedation of patients can jeopardize their spontaneous breathing, topical anesthesia of the airway is a popular technique. The spray-as-you-go technique represents one of the simplest opportunities to anesthetize the airway mucosa. The application of local anesthetic through the working channel of the flexible endoscope is a widespread practice for anesthetists as well as pulmonologists. There is neither need for additional devices nor special training as a pre-requisite to perform this technique. However, a known clinical problem is the coughing and gagging reflex tha…

Association of ACACB polymorphisms with obesity and diabetes

2011

El pdf del artículo es la versión pre-print.-- et al.

Genetic variation at the perilipin (PLIN) locus is associated with obesity-related phenotypes in White women

2004

Perilipin coats intracellular lipid droplets and modulates adipocyte lipolysis. We have evaluated the association between several polymorphisms at the perilipin (PLIN) locus (PLIN1 : 6209T > C, PLIN4 : 11482G > A, PLIN5 : 13041A > G, and PLIN6 : 14995A > T) with obesity-related phenotypes in 1589 White subjects randomly selected from a general Spanish population. In women (n = 801), the less common alleles of PLIN1 and PLIN4, in strong linkage disequilibrium (D' : 0.96), were significantly associated with lower body mass index. Carriers of the allele 2 (6209C) at the PLIN1 locus weighed significantly less (-2.2 kg; p = 0.007) than women homozygotes for the wild-type genotype. The same was t…