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1103 Uppsatser om Genetic disease - Sida 3 av 74

Förekomsten av den genetiska varianten laktapersistens hos neolitiska grupper från Öland : The contribution of the genetic variant Lactase persistence among Neolithic people from the Baltic island Öland in Sweden

This study deals with the contribution of the genetic variant lactase persistence among Neolithic people from the Baltic Island Öland. Skeletal remains from twelve individuals went through DNA sequencing in order to find the mutation that allows adult individuals to digest milk sugar. The twelve individuals were chosen from two different Neolithic sites, where the archaeological and isotopic data suggest that the individuals from Köpingsvik were hunters and gatherers and the individuals from Resmo were early farmers. The individuals with the genetic variant lactase persistence can be described with selection and genetic flow.  Only five individuals produced results and the mutation was found in two of the subjects. All the individuals who were successfully sequenced came from Resmo, whereasno individuals from Köpingsvik yielded any results.

Konservativt behandlad smärta i ländryggen : Individers bedömning av att klara av aktiviteter i det dagliga livet efter utskrivning från vårdavdelning

Background:Alzheimer's disease is a disease that primarily affects the elderly but also younger people. Alzheimer's disease is a type of dementia which means that you get changes in the cerebral cortex and cells gradually die. The disease causes memory loss and things that were obvious before will be difficult for the sufferer. Alzheimer's disease also affects next of kin to a large degree; they will have to take a great responsibility. The next of kin are entitled to support from healthcare.Aim:The aim was to highlight next of kin' experiences of healthcare to their family members with Alzheimer's disease.Method: The study was based on narratives, which in this case means analysis of autobiographies.

Molekylärgenetisk analys av dilaterad cardiomyopati hos hund :

Canine dilated cardiomyopathy (DCM) is a disease with high morbidity and mortality and with a high prevalence in certain breeds. Predominatly large breeds are affected, such as Great danes, Newfoundlands, Deerhounds and Dobermanns. One exception is Cocker spaniels, where both American and English Cocker spaniels are affected in a quite high frequency. Cardiomyopathy is characterised as a disease that affects the myocardium and gives an impaired heart function. To diagnose DCM following criteria have to be observed: 1. Dilation of the left ventricle. 2. Reduced systolic heart function. 3. Increased sphericity of the left ventricle. To be certain of the diagnosis, alternative reasons for the symptoms such as lung- and heart diseases with other etiologies have to be excluded Two different types of DCM have been found upon histological examination.

Arvets betydelse för mjölkkors beteende :

It becomes more important to consider different behaviour traits in the selection for dairy cows to be suitable in the production systems of today. The purpose of this investigation was to study the genetic background to behavioural traits and the heritabilities for temperament, rank order, aggressiveness, feeding behaviour and for learning behaviour. Moreover, the genetic correlations to other traits were studied. To be included in a breeding programme a trait needs to have enough genetic variation, a moderate to high heritability or to be correlated to another measurable trait. Behaviour is a quantitative trait affected by many genes and the environment.

Privatiseringen av de växtgenetiska allmänningarna : Konsekvenserna av regimkomplexet kring växtgenetiska resurser för bönders rättigheter och matsäkerhet

This thesis discusses the global regime complex concerning the management of plant genetic resources for food and agriculture, and how different regimes concerning these resources cooperate or stand in opposition to each other. Because of changes in US patent law and the establishment of TRIPS, patent claims over plant genetic resources has increased dramatically globally. This, amongst other things, in turn has lead to the development of CBD which in turn lead to the creation of access and benefit laws in many countries. To create a free flow of genetic resources for food and agriculture the ITPGRFA, with its multilateral system, were negotiated. The aim of this thesis is to investigate which consequences the regime complex concerning plant genetic resources for food and agriculture can have on the rights of small farmers, agricultural research and food security in the global South.

Analysis of MHC class II and monogenic eye diseases in the Scandinavian wolf population

ABSTRACT. In the late 1960?s all the wolves in Scandinavia went extinct in the wild due to extensive hunting. In 1983 two new wolves immigrated and founded, together with a third immigrant in 1991, the population that exists today. Due to the fact that the population originates from less than a handful of individuals, the genetic variation is small.

Generation of mutated expression plasmid KRT1 and comparison of HaCaT cells transfected with expression plasmid KRT1 or KRT10 concerning keratin aggregates

Introduction The genetic skin disease epidermolytic ichtyosis is caused by mutations in either keratin gene 1 or 10 and leads to blisters and hyperkeratosis of the epidermis. At cellular level the disease is seen as aggregates in the keratin filaments. Since medicines are hard to investigate and produce mainly due to lack of reproducible model systems, there is no good treatment available for this disease today. In this article we describe how an in vitro model consisting of cells from a stable cell line transfected with expression plasmids to mimic patient cells, may be a possible alternative for screening compounds for therapies. The first step was to generate an expression plasmid required to complete the in vitro model.

Etiska aspekter av preimplantatorisk genetisk diagnostik och genterapi

The research in the field of biotechnology is rapidly developing all over the world. Modern biotechnology offers unique opportunities, simultaneously as it gives rise to a number of ethical issues. Preimplantation genetic diagnosis (PGD), PGD/HLA (Human Leucocyte Antigen) and germline gene therapy (GLGT) are controversial techniques. PGD gives a possibility to identify a Genetic disease prior to the embryo?s implantation in the uterus.

Bevarande av de svenska lantraserna, populationsgenetiska och molekylärgenetiska metoder

Today?s community requires an increase in food production. Animals are today bred so that they produce more than their ancestors did. Production has been the most important and breeds with the highest production levels have therefore become popular. Many of the old local breeds have become extinct or are about to become extinct because of this trend.

Prevalens av subkliniskt smittade katter med vingelsjuka i Göteborg jämfört med Uppsala :

Borna disease virus (BDV) is a virus with capability to cause neurological disease in several species of mammals and of ostriches. Also humans are suspected to be susceptible to the virus, as the viral RNA and antibodies against BDV have been found in some humans with psychiatric diseases, like schizophrenia and depression. In Sweden there is a disease called staggering disease in cats, associated to BDV-infection. This disease often has a fatal progress. Definite diagnosis is reached by histo-pathological and immunohistochemical examination of the central nervous system.

Den närståendes upplevelse av kommunikationen - förändring och strategianvändning vid Parkinsons sjukdom

The aim of the study was to investigate how a significant other of threepersons with Parkinson?s disease experienced the communication in conversation. Astructured interview and analysis of a video recorded conversation was performed.The questions in the interview were aimed at mapping the significant others?experience of communicative problems, their frequency, degree and conversationstrategies used by a significant other in conversation. The result showed that thesignificant others? experienced problems in communication related to the disease inseveral different areas for two of three participants with Parkinson?s disease.

Variation i fruktsamhet hos semingaltar

Artificial insemination (AI) has had a great influence on the development of pig production and is today widely practiced (Gerrit et al., 2005). With AI, genetic progress can at a short period of time be spread worldwide compared with using natural service and the best boars can be intensively used. This is also one of the biggest risks with AI; the impact of semen containing a Genetic disease or contamination of pathogens can be enormous. Fortunately, it is a small risk of disease transmission due to many tests of the boars and the semen before use (Maes et al, 2008). It is important that the boars used for insemination have good breeding values along with good reproduction features and have good fertility results (Robinson et al., 2005).

Kartläggning av hörselnedsättningar, öronsjukdomar samt diagnostiseringsmöjligheter hos 1 ? 5 åriga barn

Ear disease and hearing loss in preschool children can be difficult to discover and diagnose. This paper investigates ear disease in 20 children controls from 1 to 5 years of age. The aim of the study was to map prevalence and incidence for ear disease, and prevalence of hearing loss in a group of children.Twenty children wide aged 1, 1½, 3 and 5 were included and investigated according to a set protocol with psychoacoustic tests, tympanometry, ear microscopy and a parental questionnaire. The majority of the children could be evaluated by age adequate psychoacoustic tests and otoscopy. Tympanometry was the investigation method that was most difficult to perform.

Tollarsjuka hos Nova Scotia Duck Tolling Retriever : en sjukdomsbeskrivning

In the dog breed Nova Scotia Duck Tolling Retriever (NSDTR) several dogs suffer from joint pain and possibly pain from the muscles. This diffuse disease is called Immune-mediated Non- Erosive Arthritis in Nova Scotia Duck Tolling Retriever. The disease is most likely of autoimmune nature where the etiology still is unknown. The musculoskeletal symptoms of stiffness and shifting lameness are intermittently seen. Some dogs also have dermatological changes and some dogs suffer from pain when opening their mouth. The study included 20 diseased and 20 healthy NSDTR. The purpose was to describe immune-mediated arthritis in NSDTR based on symptoms, results of analysis and effect of treatment. Among the diseased dogs 65% had serum positive for antinuclear antibodies by indirect immunofluorescense (IIF) ANA-test.

Omgivningens betydelse för patienter med Alzheimers sjukdom : med inriktning på musik - En litteraturstudie

Background: Alzheimer?s disease belongs to the largest group of dementia and stands for the half of those 37 millions persons whom are affected of dementia in the entire world. Alzheimer?s disease affects the patients with changes on their behaviour. It is important as a nurse to prevent that the symptoms increase.

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