Search results for "halu"

VACTERL with hydrocephalus: A further case with probable autosomal recessive inheritance

1994

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

2015

KIAA0586, the human ortholog of chicken TALPID3, is a centrosomal protein that is essential for primary ciliogenesis. Its disruption in animal models causes defects attributed to abnormal hedgehog signaling; these defects include polydactyly and abnormal dorsoventral patterning of the neural tube. Here, we report homozygous mutations of KIAA0586 in four families affected by lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly. We show defective ciliogenesis, as well as abnormal response to SHH-signaling activation in cells derived from affected individuals, consistent with a role of KIAA0586 in primary cilia biogenesis. Whereas centriolar maturation seemed una…

Täpläravun (Pacifastacus leniusculus) vaikutus ahventen (Perca fluviatilis) loisyhteisöihin Päijänteellä

2010

Täplärapu (Pacifastacus leniusculus) on tulokaslaji Suomen vesistöissä. Sen on käyttäytymisellään ja ravinnonkäytöllään todettu vähentävän elinalueidensa eliöyhteisöjen monimuotoisuutta. Esimerkiksi Päijänteellä on havaittu joidenkin pohjaeläinten kuten kotiloiden tiheyksien olevan alhaisempia ravun elinalueilla kuin ravuttomilla alueilla. Pohjaselkärangattomat ovat välttämättömiä väli-isäntiä monelle kalan loiselle. Tässä tutkimuksessa selvitettiin, millaisia muutoksia täplärapu voi välillisesti aiheuttaa kalojen loisyhteisöissä muuttamalla pohjaeläinten runsautta. Päijänteeltä valittiin viisi toisistaan riippumatonta ravullista ja ravutonta aluetta. Jokaiselta alueelta pyydettiin mahdolli…

Kansalaiset viestintäteknologian ja aikuiskoulutuksen käyttäjinä Keski-Pohjanmaalla

2002

Prevention and treatment of intracranial hypertension

2007

Intracranial pressure (ICP) is the pressure exerted by cranial contents on the dural envelope. It comprises the partial pressures of brain, blood and cerebrospinal fluid (CSF). Normal intracranial pressure is somewhere below 10 mmHg; it may increase as a result of traumatic brain injury, stroke, neoplasm, Reye's syndrome, hepatic coma, or other pathologies. When ICP increases above 20 mmHg it may damage neurons and jeopardize cerebral perfusion. If such a condition persists, treatment is indicated. Control of ICP requires measurement, which can only be performed invasively. Standard techniques include direct ventricular manometry or measurement in the parenchyma with electronic or fiberopti…

Data from: Plant – herbivorous beetle networks: molecular characterization of trophic ecology within a threatened steppic environment

2015

DNA barcoding facilitates many evolutionary and ecological studies, including the examination of the dietary diversity of herbivores. In this study, we present a survey of ecological associations between herbivorous beetles and host plants from seriously threatened European steppic grasslands. We determined host plants for the majority (65%) of steppic leaf beetles (55 species) and weevils (59) known from central Europe using two barcodes (trnL and rbcL) and two sequencing strategies (Sanger for mono/oligophagous species and Illumina for polyphagous taxa). To better understand the ecological associations between steppic beetles and their host plants, we tested the hypothesis that leaf beetl…

Cerebroarthrodigital syndrome: A newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, bra…

1980

We describe three patients with a complex syndrome of apparent arthromyodysplasia, dyscephaly, sacral agenesis, and hypoplastic digitis. Cause is unknown, but an environmental cause is suspected on the basis of ergotamine exposure in one case and diazoxide intake in another, together with suggestive similarities to anomalies seen in animals treated with these drugs and to calves with the Australian hydranencephaly/arthrogryposis syndrome caused by Akebane or Aino virus. Pathogenetically the primary defect may be a neural tube-neural crest dysplasia with multiple secondary and tertiary manifestations and deformities.

Largest neurosurgical social media group and its impact on communication and research

2022

Item does not contain fulltext BACKGROUND: The use of social media to communicate and disseminate knowledge has increased exponentially, especially in the field of neurosurgery. 'Neurosurgery cocktail' (NC) was developed by a group of young neurosurgeons as a means of sharing didactic materials and clinical experiences via social media. It connects 35.000 neurosurgeons worldwide on multiple platforms, primarily Facebook and Twitter. Given the rising utilization of social media in neurosurgery, the popularity of NC has also increased since its inception. In this study, the authors surveyed the social media analytics of NC for both Facebook and Twitter. Besides, we reviewed the literature on …

Seasonality of Congenital Anomalies in Europe

2014

BackgroundThis study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relation to etiologic factors. Methods: Data on births conceived in 2000 to 2008 were extracted from 20 European Surveillance for Congenital Anomalies population-based congenital anomaly registries in 14 European countries. We performed Poisson regression analysis encompassing sine and cosine terms to investigate seasonality of 65,764 nonchromosomal and 12,682 chromosomal congenital anomalies covering 3.3 mi…

Isolation on "VERO" cells of a spotted fever group rickettsia "Mortilli strain" from Rhipicephalus sanguineus.

1986

The isolation of a Spotted Fever Group (SFG) Rickettsia « Mortilli strain » from brown dog ticks Rhipicephalu.s sanguineus removed from dogs associated with a confirmed case of Boutonneuse Fever (BF) in a site of a Western Sicily is reported. The need is stressed for isolation and adaption on cell cultures of SFG rickettsial strains for analysis of antigenic structure employing modern methodology.