Search results for "Regions"

A New Mutation in the Promoter Region of the PAX8 Gene Causes True Congenital Hypothyroidism with Thyroid Hypoplasia in a Girl with Down's Syndrome

2014

Thyroid dysfunction is common in newborn infants with Down's syndrome (DS), but defects causing classic thyroid dysgenesis (TD) with permanent congenital hypothyroidism (CH) have not been described.We studied a girl with DS and CH who had a mutation in the promoter sequence of the PAX8 gene.A female infant was found to have trisomy 21 and CH, with a venous thyrotropin (TSH) of150 mU/L and a free thyroxine (fT4) of 15.1 pmol/L (day 12). Thyroid peroxidase antibodies and thyroglobulin antibodies were elevated. Scintigraphy showed normal uptake, but ultrasound identified a small gland with heterogenous echotexture and cystic changes. Sequence analysis of the PAX8 gene revealed a new heterozygo…

Adjuvante dermatokosmetische Aknetherapie

2010

Adjuvant dermato-cosmetic therapy in acne is an essential part of the concept of treating acne after initiation and during maintenance therapy. Those are mechanical peeling, chemical peeling and its combination. It needs supervision by an experienced dermatologist.

Intermittent hypobaric hypoxia applicability in myocardial infarction prevention and recovery.

2012

Abstract Intermittent hypobaric hypoxia (IHH) has been the focus of important research in cardioprotection, and it has been associated with several mechanisms. Intermittent hypobaric hypoxia inhibits prolyl hydroxylases (PHD) activity, increasing the stabilization of hypoxia-inducible factor-1 (HIF-1) and activating crucial adaptative genes. It has been hence suggested that IHH might be a simple intervention, which may offer a thoughtful benefits to patients with acute myocardial infarction and no complications. Nevertheless, several doubts exist as to whether IHH is a really safe technique, with little to no complications in post-myocardial infarction patients. Intermittent hypobaric hypox…

Performance and age of African and non-African runners in half- and full marathons held in Switzerland, 2000–2010

2013

André Aschmann,1 Beat Knechtle,2 Marco Cribari,1 Christoph Alexander Rüst,1 Vincent Onywera,3 Thomas Rosemann,1 Romuald Lepers4 1Institute of General Practice and for Health Services Research, University of Zurich, Zurich, Switzerland; 2Gesundheitszentrum St Gallen, St Gallen, Switzerland; 3Department of Recreation Management and Exercise Science, Kenyatta University, Kenya; 4Institut National de la Santé et de la Recherche Médicale, Faculty of Sport Sciences, University of Burgundy, Dijon, France Background: Endurance running performance of African (AF) and non-African (NAF) athletes is investigated, with better performances seen for Africans. To d…

Towards Ethical Guidelines of Using Telepresence Robots in Residential Care

2021

AbstractRobotic telepresence is a potential technology to help alleviating the loneliness of elderly people. The impacts of long-term use of telepresence robots in residential care are not well known. We were interested in how using a telepresence robot influences the resident, family members and care workers at a facility, and what challenges and solutions there are for wider adoption of such robots in residential care. With a telepresence robot Double, we arranged a series of three trials in two separate residential care facilities: one 12-week trial in a private facility and two successive 6-week trials in a public facility. In each trial, we installed the telepresence robot in a room of…

A spatial and sectoral analysis of firm demography in Italy

2013

Spatial and Sectoral Features of the Firm Demography in Italy

2014

The Internuclear Ophthalmoplegias

1993

Internuclear ophthalmoplegia (INO), which is caused by an ipsilateral medial longitudinal fasciculus (MLF) lesion, is characterized by adduction paresis of lateral gaze, usually with spared convergence [1–4]. In the opposite eye, abduction nystagmus and hypermetric abduction saccades are the main clinical and electro-oculographic abnormalities [1, 5, 6]. The origin of both is still debated. Abduction nystagmus has been explained by (a) an additional horizontal gaze paresis [7]; (b) vergence mechanisms aimed at alignment of the visual axes [8]; (c) interruption of descending excitatory projections from oculomotor nucleus internuclear neurons to contralateral abducens nucleus motoneurons [9];…

The functional significance of colour polymorphism in the European common wall lizard (Podarcis muralis)

2021

Colour polymorphisms, the coexistence of two or more colour morphs of a species within a population, have long fascinated evolutionary biologists interested in the mechanisms generating and maintaining phenotypic variation in nature. The functional significance of colour polymorphisms (i.e. their adaptive value) is often linked to the selective mechanisms responsible for their maintenance over time. In lizards, the hypothesis that colour morphs may reflect alternative reproductive strategies involving differential sociosexual behaviour and/or alternative reproductive strategies has come to dominate the field. Wall lizards (family Lacertidae, genus Podarcis), with several geographically dist…

Magnetic stimulation in the definition of eloquent cortical areas

2003

Publisher Summary This chapter discusses the physiological principles of transcranial magnetic stimulation (TMS) and focus on detailing the techniques used in TMS mapping of the motor cortex relating it to the use of TMS in the presurgical assessment of patients with epilepsy. Since the main measure of TMS is the motor potential evoked in muscles, fine delineation of the functional topography of cortex is limited mainly to the primary sensorimotor cortex. In addition, TMS might be helpful to identify language dominance. The characterization of eloquent cortical areas is important in epilepsy surgery for the planning of the resection. TMS is not routinely employed for this purpose and TMS ma…