Search results for "Chart"

Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II

2010

Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase. It has multisystemic involvement, with manifestations in the brain, upper respiratory tract, heart, abdomen, joints and bones. Bone involvement leads to decreased growth velocity and short stature in nearly all patients. A therapeutic option for patients with MPS II is enzyme replacement therapy (ERT) with idursulfase (Elaprase®). We compared annual growth rates before and during ERT in 18 patients from Mainz, Germany, and Manchester, UK. Group 1 included nine patients who started ERT before 10 years of age; group 2 contained nine patie…

Cilioretinal artery occlusion.

2015

Background: The aim of this study was to evaluate characteristic findings and functional outcome of this rare type of retinal vascular occlusion in a large patient series. Patients and Methods: A retrospective chart review of all patients with a cilioretinal artery obstruction (CAO) seen at the University Eye Clinic Mainz (Germany) over a ten-year period between 1/1999 and 12/2008 was undertaken. The mean follow-up amounted to 42 months. Results: Thirty-three eyes were diagnosed with CAO. Three distinct groups were differentiated: (i) isolated CAO in 20/33 eyes; visual outcome achieving 20/50 in 17/20 eyes; (ii) CAO combined with central retinal vein occlusion in 9/33 eyes; visual outcome a…

Impact of the AHI1 gene on the vulnerability to schizophrenia: a case-control association study.

2010

Background: The Abelson helper integration-1 (AHI1) gene is required for both cerebellar and cortical development in humans. While the accelerated evolution of AHI1 in the human lineage indicates a role in cognitive (dys)function, a linkage scan in large pedigrees identified AHI1 as a positional candidate for schizophrenia. To further investigate the contribution of AHI1 to the susceptibility of schizophrenia, we evaluated the effect of AHI1 variation on the vulnerability to psychosis in two samples from Spain and Germany. Methodology/Principal Findings: 29 single-nucleotide polymorphisms (SNPs) located in a genomic region including the AHI1 gene were genotyped in two samples from Spain (28…

The UN Convention on the Rights of the Child's Role in Litigation Before the Committee of Experts of the African Children's Charter

2020

On the occasion of the 30th anniversary of the UN Convention on the Rights of the Child, this article contributes to a reflection about the Convention's impact on domestic and international case law by investigating its role in, and implications for, litigation before the African Committee of Experts on the Rights and Welfare of the Child. To this end, the analysis starts by tracing the core aspects of the African Charter on the Rights and Welfare of the Child, and by comparing its content to that of the UN Convention. It then investigates the extent to which, in its practice, the African Committee has engaged with (or, indeed, ignored or overlooked) the UN Convention, and critically assess…

Urban Circular Metabolism as a Generator of Value and Resilient Communities. Creative Recycling of Industrial Architecture: The Case of Nordkraft (Aa…

2022

Aalborg has modified its urban metabolism to overcome the economic-industrial crisis and tackle climate change. The city, however, has not changed its DNA. Without distorting its identity as an industrial city, it has been able to respond to new and unpredictable needs through a process of architectural and urban exaptation. Nordktraft is a significant part of this regeneration process based on sustainability, both from an environmental and socio-cultural point of view, with a vision that is particularly focused on physical health and the growth of the relational life of the population. The vision that inspired the Nordkraft project is that diversity is the most powerful factor fueling resi…

Cotes et analyses des chartes de Cîteaux (XIIIe-XVIIIe siècle)

2018

Optimisation of Heat Loss through Ventilation for Residential Buildings

2018

This study presents the results of research on heat loss from various types of residential buildings through ventilation systems. Experimental research was done to analyse the effectiveness of ventilation systems of different types and determine the parameters of air discharged via the ventilation ducts. A model of heat loss from the discharge of exhaust air outside through air ducts has since been developed. Experiments were conducted on three experimental systems of building ventilation: gravitational, mechanical, and supply-exhaust ventilation systems with heat recovery. The proposed model dependencies were used to chart the daily fluctuations of the optimum multiplicity of air exchange …

BlotBase: a northern blot database.

2008

With the availability of high-throughput gene expression analysis, multiple public expression databases emerged, mostly based on microarray expression data. Although these databases are of significant biomedical value, they do hold significant drawbacks, especially concerning the reliability of single gene expression profiles obtained by microarray data. Simultaneously, reliable data on an individual gene's expression are often published as single northern blots in individual publications. These data were not yet available for high-throughput screening. To reduce the gap between high-throughput expression data and individual highly reliable expression data, we designed a novel database "Blo…

Linee guida per la valutazione della resilienza delle foreste Mediterranee ai cambiamenti climatici [Guidelines for assessing the resilience of Medit…

2017

We have defined optimal management models for improving or strengthening the resilience of forest environments: in particular, five best management practices aiming at improving the Mediterranean forests resilience with reference to the desertification risk. The 5 Best ManagementPractices are: BMP1 - Actions favoring mixing of species and hydrogeological stability of forests; BMP2 - Renaturalization of forest plantations; BMP3 - Remedial measures and restoration of degraded forests; BMP4 - Actions aimed at enhancing complex structural forests; BMP5 - Actions favoring connectivity in agro-forestry systems. The best management practices have been then applied adapting them to 16 different int…

Umbilical venous catheters placement evaluation on frontal radiogram: application of a simplified flow-chart for radiology residents

2017

Background: Umbilical Venous Catheter (UVC) are commonly used in neonatal period; they can be not correctly positioned and could be associated with complications. The purpose of this article is to suggest a flow-chart to evaluate the placement of UVC, testing it in young radiologists-in-training. Method: We developed a simple flow-chart to asses, steps by step, UVC placement considering its course and tip location (ideally placed in the atriocaval junction). We tested the flow-chart impact asking to 20 residents to evaluate the placement of 10 UVC before and after they familiarized with the flow-chart and the anatomical findings of a newborn. The agreement among the 20 students was evaluate…