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Characteristics Of Civil Defense Search And Rescue Units, Turkey, 2008-2009
(2011)
Background Search and rescue (SAR) is a component of emergency and disaster response. SAR teams are limited in number; thus, collecting information on their characteristics may facilitate the establishment of mutual agreement ...
The Crisis and After: There Is No Alternative?
(Savez Ekonomista Vojvodine, 2011)
The present paper devises an account of the possibilities that the recent crisis opens up for capitalism, which dwells upon its history. The paper takes three propositions as its starting point: First, capitalism, which ...
Respiratory-Chain Deficiency Presenting As Diffuse Mesangial Sclerosis with Nphs3 Mutation
(Springer, 2011)
Renal manifestations of mitochondrial cytopathies have been described, but nephrotic syndrome with respiratory-chain disorders have been described extremely rarely. We report a 9-month-old boy with a mitochondrial cytopathy ...
Mutations In The Tgf Beta Binding-Protein-Like Domain 5 Of Fbn1 Are Responsible For Acromicric And Geleophysic Dysplasias
(Cell Press, 2011)
Geleophysic (GD) and acromicric dysplasia (AD) belong to the acromelic dysplasia group and are both characterized by severe short stature, short extremities, and stiff joints. Although All has an unknown molecular basis, ...
Registries in Rheumatological and Musculoskeletal Conditions. Paediatric Behcet'S Disease: An International Cohort Study of 110 Patients. One-Year Follow-Up Data
(Oxford Univ Press, 2011)
Methods. International experts have defined the inclusion criteria as follows: recurrent oral aphthosis (ROA) plus one of following-genital ulceration, erythema nodosum, folliculitis, pustulous/acneiform lesions, positive ...
Renal Amyloidosis In Children
(2011)
Renal amyloidosis is a detrimental disease caused by the deposition of amyloid fibrils. A child with renal amyloidosis may present with proteinuria or nephrotic syndrome. Chronic renal failure may follow. Amyloid fibrils ...
The Effects of an Insertion in the 5 ' Utr of the Amcase on Gene Expression and Pulmonary Functions
(W B Saunders Co Ltd, 2011)
Background: Studies regarding the physiological role of acidic mammalian chitinase (AMCase) and the effects of its genetic variants on asthma have produced conflicting results. Objectives: We aimed to determine the genetic ...
Time To Focus On Outcome Assessment Tools For Childhood Vasculitis
(2011)
Childhood systemic vasculitides are a group of rare diseases with multi-organ involvement and potentially devastating consequences. After establishment of new classification criteria (Ankara consensus conference in 2008), ...
Myo1E Mutations And Childhood Familial Focal Segmental Glomerulosclerosis
(Massachusetts Medical Soc, 2011)
BACKGROUND Focal segmental glomerulosclerosis is a kidney disease that is manifested as the nephrotic syndrome. It is often resistant to glucocorticoid therapy and progresses to end-stage renal disease in 50 to 70% of ...
Nbeal2 Is Mutated In Gray Platelet Syndrome And Is Required For Biogenesis Of Platelet Alpha-Granules
(2011)
Gray Platelet Syndrome (GPS) is an autosomal recessive bleeding disorder with large platelets that lack α-granules. We found that mutations of NBEAL2 (neurobeachin-like 2), encoding a BEACH/ARM/WD40 domain protein, cause ...
Accounting For Genetic Heterogeneity In Homozygosity Mapping: Application To Mendelian Susceptibility To Mycobacterial Disease
(B M J Publishing Group, 2011)
Introduction Genome-wide homozygosity mapping is a powerful method for locating rare recessive Mendelian mutations. However, statistical power decreases dramatically in the presence of genetic heterogeneity. Methods The ...
Oxidative Stress In Asthma
(2011)
Asthma is a chronic inflammatory lung disease that results in airflow limitation, hyperreactivity, and airway remodeling. There is strong evidence that an imbalance between the reducing and oxidizing systems favoring a ...
Primary Pleuropulmonary Neoplasms in Childhood: Fourteen Cases From a Single Center
(Asian Pacific Organization Cancer Prevention, 2011)
Background: We aimed to review clinical characteristics, treatment results and outcome of pediatric patients with primary pleuropulmonary neoplasms. Methods: Medical records of 14 cases diagnosed between 1972-2009 were ...
Molecular Screening Of Adamtsl2 Gene In 33 Patients Reveals The Genetic Heterogeneity Of Geleophysic Dysplasia
(B M J Publishing Group, 2011)
Background Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin. Patients often present with a progressive cardiac ...
Nuclear Factors Involved In Mitochondrial Translation Cause A Subgroup Of Combined Respiratory Chain Deficiency
(2011)
Mutations in several mitochondrial DNA and nuclear genes involved in mitochondrial protein synthesis have recently been reported in combined respiratory chain deficiency, indicating a generalized defect in mitochondrial ...