Sökning: "genetic screening"

Visar resultat 1 - 5 av 305 avhandlingar innehållade orden genetic screening.

1. 1. Genetic Screening in Patients Suspected of Inherited Bleeding Disorders

   Författare :Marcus Fager Ferrari; Malmö Klinisk koagulationsmedicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Bleeding; Inherited Bleeding Disorders; Platelet Dysfunction; Thrombocytopenia; Genetic Screening; High-Throughput Sequencing; STX11; STXBP2; UNC13D; FGB; COL1A1; COL3A1; COL5A1; COL5A2; GNE; Sialic Acid; Oseltamivir;

   Sammanfattning : Inherited bleeding disorders constitute a heterogeneous group of genetic diseases, affecting virtually all major components of the hemostatic system. The diagnostics are potentially complex, and a high proportion of patients remain without a conclusive diagnosis following work-up. LÄS MER

3. 2. Predictive Healthcare : Cervical Cancer Screening Risk Stratification and Genetic Disease Markers

   Författare :Nicholas Baltzer; Jan Komorowski; Mark Jit; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Bioinformatics; Cervical Cancer; Screening; Computer Science; Algorithmics; Machine Learning; Genetics; SNPs; Rough Sets; Bioinformatics; Bioinformatik;

   Sammanfattning : The use of Machine Learning is rapidly expanding into previously uncharted waters. In the medicine fields there are vast troves of data available from hospitals, biobanks and registries that now are being explored due to the tremendous advancement in computer science and its related hardware. LÄS MER

4. 3. Molecular genetic studies on cystinuria

   Författare :Lotta Harnevik; Peter Söderkvist; Catharina Larsson; Linköpings universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amino acid transport systems; Amino acids diamino; Mutation; Sulphydryl compounds; urine; Cystine; Carrier proteins; Cystinuria; DNA mutational analysis; Dog diseases; genetic; Membrane glycoproteins; Medical genetics; Medicinsk genetik;

   Sammanfattning : Cystinuria is defined as an inherited disorder characterized by increased urinary excretion of cystine and the dibasic amino acids arginine, lysine and ornithine. The only clinical manifestation of cystinuria is renal cystine stone formation due to the low solubility of cystine in the urine. LÄS MER

5. 4. On the aetiology of ALS : a comprehensive genetic study

   Författare :Caroline Ingre; Peter M Andersen; Rayomand Press; Siddharthan Chandran; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; risk factor; VAPB; SOD1; amyotrophic lateral sclerosis; ATXN2; SMN1; SMN2; PFN1; 50 bp deletion in SOD1 promotor; population-specific genetic variations; Neurology; neurologi;

   Sammanfattning : Introduction: Amyotrophic lateral sclerosis (ALS) is a deadly, progressive neuromuscular disease that affects individuals all over the world. About 10% of the patients have a familial predisposition (FALS) while the remainder of cases are isolated or sporadic (SALS) and of unknown cause. LÄS MER

7. 5. Abdominal Aortic Aneurysm : Experience from a Screening Study in Northern Sweden

   Författare :Anders Wanhainen; Martin Björck; Jesper Swedenborg; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Surgery; abdominal aortic aneurysm; definition; prevalence; ultrasonography; computed tomography; variability; quality of life; SF-36; risk factor; cholesterol; smoking; CRP; heredity; atherosclerosis; screening; cost-effectiveness; cost-utility; Kirurgi; Surgery; Kirurgi;

   Sammanfattning : Abdominal aortic aneurysm (AAA) is a common problem with life-threatening consequences and was suspected to be a serious health problem in Norsjö, a municipality in northern Sweden. A screening study was undertaken to investigate the prevalence, risk factors associated with AAA and the effect of screening on quality of life (QoL). LÄS MER