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Dissertations / Theses on the topic 'Abnormalities'
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1
Smith, Keith Charles. "Reproductive abnormalities in ewes." Thesis, University of Bristol, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.319129.
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Goatly, Alison. "FOXP1 abnormalities in lymphoma." Thesis, University of Cambridge, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.611626.
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Sullivan, Courtney R. "Bioenergetic Abnormalities in Schizophrenia." University of Cincinnati / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1523629996205968.
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Chan, Siew-luen, and 陳兆麟. "A cephalometric study of dentoalveolar hyperplasia in dentofacial deformities." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1994. http://hub.hku.hk/bib/B31953979.
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Schouten, Hendricus Constantinus. "Chromosomal abnormalities in hematological malignancies." Maastricht : Maastricht : Datawyse ; University Library, Maastricht University [Host], 1991. http://arno.unimaas.nl/show.cgi?fid=5640.
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Martini, Elena. "Chromosomal abnormalities in human gametes." Maastricht : Maastricht : UPM, Universitaire Pers Maastricht ; University Library, Maastricht University [Host], 1998. http://arno.unimaas.nl/show.cgi?fid=8529.
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Haynes, Andrew Paul. "Metabolic abnormalities in uraemic neutrophils." Thesis, University of Nottingham, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.305133.
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Bedwell, A. E. "Immunological abnormalities of rheumatoid arthritis." Thesis, University of Bristol, 1986. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.372005.
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Poulogiannis, George. "Genome abnormalities in colorectal cancer." Thesis, University of Cambridge, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.612117.
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Mani, Alireza. "Cardiac rhythm abnormalities in cirrhosis." Thesis, University College London (University of London), 2007. http://discovery.ucl.ac.uk/1446020/.
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Liver cirrhosis is associated with cardiovascular dysfunction including decreased heart rate variability and impaired acceleration of the heart rate in response to sympathetic activation (chronotropic incompetence). In this thesis, the hypothesis that increased formation of reactive nitrogen species in cirrhosis causes nitration or S-nitrosation of cardiac proteins and leads to impaired chronotropic function was assessed in an experimental model of cirrhosis. Cardiac chronotropic responsiveness to fi-adrenergic stimulation was assessed in vitro using spontaneous beating rat isolated atria. A novel mass spectrometric method was developed for dynamic assessment of nitration reactions based on the nitration of deuterium-labelled pra-hydroxyphenyl acetic acid. Nitration of cardiac proteins was measured by mass spectrometry and located by immunogold electron microscopy. Marked impairment of chronotropic responses of isolated atria to isoproterenol was observed in rats with cirrhosis, which normalized after the administration of N-acetylcysteine (a scavenger of reactive oxygen and nitrogen species) or L-NAME (a nitric oxide synthase inhibitor). The levels of protein-bound nitrotyrosine in atrial tissue increased from 16 1 to 23 3 pg/g tyrosine in rats with cirrhosis, and decreased to 15 1 and 17 1 pg/g after treatment with L-NAME and N-acetylcysteine, respectively (P<0.05). Immunogold electron microscopy demonstrated increased nitration of filaments and mitochondria in the atria of rats with cirrhosis. A chemiluminescence- based method was developed to stabilise and measure S-nitrosothiols in tissues. There was no difference in cardiac S-nitrosothiols following induction of cirrhosis, and neither N-acetylcysteine nor L-NAME had any effect on the cardiac levels of S-nitrosothiols. Autonomic regulation of cardiac function was assessed by analysis of heart rate variability in anesthetized rats using Fast Fourier Transformation. Heart rate variability analysis showed impaired sympathovagal balance towards increase of cardiac sympathetic activity in rats with cirrhosis (P<0.05). However there was no change in the sympathovagal balance following N-acetylcysteine or L-NAME adminstration in cirrhotic rats. In conclusion, abnormal cardiac chronotropic function in cirrhosis is associated with increased nitration of cardiac proteins. Two independent treatments (N-acetylcysteine and L-NAME) that decrease nitration of cardiac proteins led to normalization of cardiac responses. Nitration of critical proteins in cardiac tissue may lead to abnormal cardiac function.
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Pazzi, Paolo. "Haemostatic abnormalities in canine spirocercosis." Diss., University of Pretoria, 2012. http://hdl.handle.net/2263/25886.
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Spirocerca lupi (S. lupi) is a nematode that infects the dog’s oesophagus resulting in an inflammatory fibroblastic nodule that progresses to a sarcoma in approximately 25% of cases. Inflammation, coagulation and cancer are exquisitely intertwined and inflammatory changes are known to lead to coagulation abnormalities. The nature and degree of haemostatic alterations in canine spirocercosis are unknown. Evidence of inflammation in dogs with clinical spirocercosis is provided by pyrexia, leucocytosis, increased serum interleukin 8 and C-reactive protein as well as severe inflammatory infiltrates on histopathology of nodules. This study aimed to determine if haemostatic abnormalities exist in canine spirocercosis, and hypothesised that the severity of abnormalities could be used to differentiate non-neoplastic from neoplastic spirocercosis. Thirty-nine client-owned S. lupi-infected dogs and 15 healthy age- and sex-matched control dogs were included in this study. Blood samples were collected at the time of diagnosis. A complete blood count, prothrombin time (PT), activated partial thromboplastin time (aPTT), fibrinogen concentration, antithrombin (AT) activity, D-dimer concentration and thromboelastography (TEG) analysis were performed. Hypercoagulability was based on the maximum amplitude (MA) value derived from TEG. Inflammatory parameters were also determined and included C-reactive protein (CRP) and fibrinogen concentrations. The S lupi-infected dogs were divided into a non-neoplastic group (n=24) and a neoplastic group (n=15). Data were compared using the Kruskal-Wallis Test and Dunn’s multiple comparisons applied post-hoc. Correlation was determined using Spearman’s correlation. Hypercoagulabilty was found in the neoplastic and non-neoplastic spirocercosis cases. In addition, the neoplastic group was significantly more hypercoagulable than the non-neoplastic group, and the non-neoplastic group was significantly more hypercoagulable than the control group. The median fibrinogen concentration was significantly higher in the neoplastic group compared to the non-neoplastic group, but there was no significant difference between the non-neoplastic and control group. The median CRP concentration was significantly higher in the neoplastic group compared to the non-neoplastic group, with no significant difference between the non-neoplastic and control group. Compared to the control group the median AT activity was significantly decreased in both the non-neoplastic and neoplastic groups. No significant difference was found between the infected groups. Across the non-neoplastic and neoplastic groups, MA showed positive linear correlation with CRP and fibrinogen. The study showed that spirocercosis is associated with a hypercoagulable state that becomes progressively more severe with neoplastic transformation. Overlap did exist between the median MA values of the non-neoplastic and neoplastic groups, but an MA of >76 mm provided a specificity of 96% and sensitivity of 73% for the differentiation of disease state. Thromboelastography might therefore be used as an adjunctive assay to support the suspicion of neoplastic transformation of the oesophageal nodule as well as to determine the overall haemostatic status of the patient. The MA correlated positively with the indicators of inflammation (CRP&fibrinogen) supporting the hypothesis that an inflammatory state induced by the S. lupi nodule is at least partly responsible for the hypercoagulability. The link between inflammation, coagulation and neoplastic transformation in spirocercosis warrants further investigation to elucidate the exact factors resulting in the hypercoagulable state, whether clinically relevant complications develop and whether or not specific therapy should be instituted to prevent thrombotic sequelae.Dissertation (MMedVet)--University of Pretoria, 2012.
Companion Animal Clinical Studies
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Van, Guilder Gary Preston. "Vascular endothelial abnormalities associated with obesity." Diss., Connect to online resource, 2006. http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqdiss&rft_dat=xri:pqdiss:3219223.
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Macdonald, Donald Hugh Charles. "Chromosome 13 abnormalities in myeloproliferative diseases." Thesis, Imperial College London, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.411308.
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Greenaway, R. "Factors underlying attentional abnormalities in autism." Thesis, University of Cambridge, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.599665.
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Children with autism can be highly distractible at times, but over-focused and resistant to distraction at others. In this dissertation a series of studies are conducted to explore factors that might underlie this apparent paradox. I start by considering whether the amount of relevant and irrelevant information presented might lead to differences in selection by children with autism compared to typically developing children. However, no differences were found on tasks manipulating perceptual load, indicating that in this respect selection is typical in autism. Next, attentional capture procedures were employed to investigate the interaction between bottom-up and top-down attentional processing in autism. Furthermore, stimulus properties were manipulated to investigate whether these factors interact. Two experiments showed that while children with autism showed typical attentional modulation of static colour stimuli, they did not modulate attentional capture by dynamic onset distractors. There were two potential explanations for this finding: first, that children with autism show selective impairments in modulating the attentional processing of dynamic stimuli; second, that children with autism find dynamic stimuli less salient. In a further experiment, it was demonstrated that children with autism were able to modulate attentional capture of motion to the same degree as typical children, indicating that an abnormality in processing onsets in autism does not generalise to all dynamic stimuli. Thus, it was conjectured that abnormalities might be specific to those stimuli that are processed primarily by the magnocellular visual pathway. This was supported by the results of a psychophysical study that demonstrated that whilst children with autism showed typical parvocellular processing, they showed an impairment in magnocellular processing. It is concluded that a deficit in magnocellular processing could provide a powerful explanation of some of the attentional and perceptual abnormalities previously reported in the literature, and even have an adverse impact on some higher-level abnormalities.
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Atia, Tarek A. "Investigation of human subtelomeric cytogenic abnormalities." Thesis, University of Nottingham, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.272765.
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Ward, Samantha Jane. "Genetic abnormalities in paediatric glial tumours." Thesis, University College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.404885.
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Raphael, Claire. "Coronary flow abnormalities in hypertrophic cardiomyopathy." Thesis, Imperial College London, 2016. http://hdl.handle.net/10044/1/51512.
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Hypertrophic cardiomyopathy (HCM) affects 1 in 500 of the general population. Patients commonly suffer from angina, exhibit abnormal coronary flow patterns and have impaired myocardial perfusion. Wave intensity analysis (WIA) allows improved understanding of how myocardial mechanics result in impaired coronary flow. We used WIA to describe these mechanisms in HCM. We developed a new sequence for measurement of coronary flow velocity using cardiovascular magnetic resonance (CMR) and tested its utility for non-invasive coronary WIA. Patients with HCM had a lower coronary flow reserve than controls and 30% had systolic reversal of flow. During early systole, HCM patients had a much larger fractional backward compression wave compared to controls (38.2±11.1% versus 21.0±6.2%, p < 0.001). Patients with severe left ventricular outflow tract obstruction had a bisferiens pressure waveform resulting in an additional proximally originating deceleration wave during systole. These changes correlated with the severity of myocardial perfusion impairment. Perfusion abnormalities in HCM are therefore not simply a consequence of supply/demand mismatch or remodelling of the intra-myocardial blood vessels but represent a dynamic interaction with myocardial mechanics. We developed a retrospectively-gated breath-hold spiral phase velocity mapping sequence with high temporal resolution for measurement of flow velocity in the proximal coronary arteries using CMR and validated this against invasive measurement. CMR velocities were approximately 40% of the invasive values. Plots of MR velocities at any time point in the cardiac cycle against Doppler velocities in individual vessels showed a linear relationship with high R2 values (mean ± SD: 0.8± 0.1). Combination of the velocity data with pressure data derived from aortic distension produced the expected pattern of forward and backward compression and expansion waves seen in coronary arteries with comparable intra-study reproducibility to invasive WIA. Although only tested in small numbers, if validated this technique would expand the accessible patient population for WIA.
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Gu, Jianwen Wendy 1981. "Neural abnormalities underlying tinnitus and hyperacusis." Thesis, Massachusetts Institute of Technology, 2011. http://hdl.handle.net/1721.1/65515.
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Thesis (Ph. D.)--Harvard-MIT Division of Health Sciences and Technology, 2011.Cataloged from PDF version of thesis.
Includes bibliographical references (p. 83-90).
Tinnitus, the ongoing perception of sound in the absence of a physical stimulus, and hyperacusis, the intolerance of sound intensities considered comfortable by most people, are two often co-occurring clinical conditions lacking effective treatments. This thesis identified neural correlates of these poorly understood disorders using functional magnetic resonance imaging (fMRI) and auditory brainstem responses (ABRs) to measure sound-evoked activity in the auditory pathway. Subjects with clinically normal hearing thresholds, with and without tinnitus, underwent fMRI or ABR testing and behavioral assessment of sound-level tolerance (SLT). The auditory midbrain, thalamus, and primary auditory cortex (PAC) showed elevated fMRI activation related to reduced SLT (i.e. hyperacusis). PAC, but not midbrain or thalamus, showed elevated fMRI activation related to tinnitus, perhaps reflecting undue attention to the auditory domain. In contrast to fMRI activation, ABRs showed relationships only to tinnitus, not SLT. Wave I of the ABR, which reflects auditory nerve activity, was reduced in tinnitus subjects, while wave V, reflecting input activity to the midbrain, was elevated. Wave I reduction in tinnitus subjects suggests that auditory nerve dysfunction apparent only above threshold is a factor in tinnitus. Because ABRs reflect activity in only one of multiple pathways from cochlear nucleus to midbrain, the wave V elevation implicates this particular pathway in tinnitus. The results directly link tinnitus and hyperacusis to hyperactivity within the central auditory system. Because fMRI and ABRs reflect different aspects of neural activity, the dependence of fMRI activation on SLT and ABR activity on tinnitus in the midbrain raises the possibility that tinnitus and hyperacusis arise in parallel from abnormal activity in separate brainstem pathways.
by Jianwen Wendy Gu.
Ph.D.
19
Jiang, Sirui. "Mitochondrial Dynamic Abnormalities in Alzheimer's Diease." Case Western Reserve University School of Graduate Studies / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=case1536608714970424.
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Ben, Amor Hanene. "Chromosome abnormalities in preimplantation bovine embryos." Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=111790.
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Note:Studies suggest that chromosomal abnormalities notably mosaicism consisting of normal and abnormal cells is a common feature observed in mammalian preimplantation embryos. The data on chromosome abnormalities in bovine embryos however, are limited. The principal aim of this study was to investigate chromosome abnormalities and their effect on the development of bovine embryos produced in vitro. 193 embryos were evaluated for chromosomal abnormalities, using dual fluorescent in situ hybridization (FISH) with developed DNA probes for X and Y chromosomes. Our results demonstrate that uniformly abnormal embryos were found mostly at the early cleavage stages, and embryos with extensive chromosome abnormalities were usually arrested by the morula stage. Chromosomal mosaicism was observed at the 2- cell stage and increased steadily with subsequent stages of development. By the blastocyst stage, chromosomal mosaicism was the main abnormality observed and affected 95% of the blastocysts. Most of the mosaic blastocysts comprised of diploid and tetraploid cells. In the second part, a detailed analysis of 121 day 7 and days 9-10 blastocysts, demonstrated that the proportion of polyploid cells in most of the morphologically good quality embryos was less than 15%, which was significantly lower than in poor quality embryos. [...]
II a ete suggere que des anomalies chromosomiques particulierement le mosaicism sont frequemment rencontres chez les embryons des bovins produit in vitro, cependant les donnees disponibles sont tres limitees. Le but principal de cette etude est d'evaluer les anomalies chromosomiques particulierement le mosaicism au different stades de developpement embryonnaire par FISH en utilisant des probes 'ADN pour les chromosomes X et Y. Nos resultats demontrent que des embryons uniformement anormales ont ete surtout trouves aux premiers stades de cleavage, temoignant que les embryons avec une vaste anomalie affectant la totalite des embryons sont souvent arretes au stade du morula. Le mosaicism chromosomique a ete rencontre dans tous les stades de developpement et il a augmente emarquablement pendant le developpement embryonnaire. Ainsi, au stade du blastocyst, le mosaicism chromosomique etait l'anomalie principale observee avec 95 % de blastocysts analyses devenant mosaiques. [...]
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Chong, Mei-man, and 臧薇敏. "Three-dimensional comparison of the upper airway in various types of dentofacial deformities." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B48542027.
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Objectives
1. To define the normative airway of Chinese population using three-dimensional imaging and computer analysis
2. To evaluate the upper airway differences in patients with normal facial profile and those with skeletal class III deformity
3. To evaluate the differences in upper airway models among patients with different dentofacial deformities and describe the role of computational fluid dynamics (CFD) in the human upper airway
Materials and Methods
Part I : Three-Dimensional Analysis of the Normative Upper Airway in Chinese
This was a cross-sectional observational study. Cone beam computerized tomography (CBCT) scans of one hundred patients were analyzed. Computer analysis of the different upper airway parameters were studied including airway length and volume, as well as airway dimensions at the axial level of the soft palate, hard palate, base of tongue, and epiglottis. The most constricted airway location was identified and correlation analysis with variables of interest was done.
Part II: A Cone Beam Computerized Tomography Study of Airway in Skeletal Class I and Class III
Cone-beam computed tomography (CBCT) records of 200 patients were used to evaluate the upper airway dimensions. This sample consisted of patients with normal facial profile (Class I) and those demonstrating skeletal class III deformities. Computer analysis of the upper airway parameters such as airway length, airway volume, airway anterior-posterior and cross-sectional area dimensions at the hard palate, soft palate, base of tongue and epiglottis were performed. The most constricted airway sites were identified.
Part III: Computational fluid dynamics study of upper airway in different dentofacial deformities
Cone-beam computed tomography records of 12 patients were used to evaluate the upper airway. This sample consisted of facial skeletal Class I, II and III subjects. The upper airway models were constructed to allow CFD simulations in the airway from the epiglottis to the hard palate. Cross-sectional area, pressure, velocity and resistance were measured based on the reconstructed meshed models.
Results
Part I : Three-Dimensional Analysis of the Normative Upper Airway in Chinese
In 100 subjects (40 males, 60 females) aged 16-40 years with normal facial profile, we found that the most constricted site occurs at the level of the soft palate. This surface area of this site was found to be linearly correlated to the airway volume, suggesting a significant relationship between the most constricted area and the total airway volume. Gender differences were found in airway length, volume, and in the dimensions at the base of tongue and epiglottis region. The mean airway length was 54.12 mm + 6.19 for males and 49.25 mm + 4.86 for females; airway volume of 15.09 cm3 + 4.92 for males and 13.12 cm3 + 4.72 for females.
Part II: A Cone Beam Computerized Tomography Study of Airway in Skeletal Class I and Class III
The sample consisted of 100 Class I (41 males, 59 females) with a mean age of 25.4 years and 100 Class III (38 males, 62 females) with a mean age of 23.5 years. Gender differences were noted in the airway length, airway volume and dimensions at the base of tongue and epiglottis for both groups. Males showed longer airway length, larger airway volume, larger airway dimensions at the base of tongue and epiglottis compared to females. Significant differences in all the airway parameters between the two groups were found except for airway length. The soft palate was found to be the most constricted airway site observed in the Class I subjects while Class III subjects showed restriction in both the soft palate and epiglottis region.
Part III: Computational fluid dynamics study of upper airway in different dentofacial deformities
The airflow was variable among airway in different skeletal deformities. The pressure changes along airway of Class II were the largest, followed by Class I. The pressure drop in the airway of Class III subjects were the smallest. The larger pressure differences would cause greater resistance in the airway. The highest resistance was observed in the airway of Class II subjects.
Conclusion
Part I : Three-Dimensional Analysis of the Normative Upper Airway in Chinese
This airway data provide a normative reference that can be used in various dentofacial analysis as well as for diagnosis and treatment planning for related dentofacial deformities and in understanding the pathophysiology for sleep-related breathing disorders.
Part II: A Cone Beam Computerized Tomography Study of Airway in Skeletal Class I and Class III
The upper airway is larger in patients with Class III deformity than those with a normal facial profile. The site of restriction is commonly observed at the soft palate in the Class I group whereas patients with Class III deformity, the airway restriction sites are at both the soft palate and epiglottis. Understanding of the upper airway differences in between class I and class III facial deformities can have implications on treatment planning for orthognathic surgery.
Part III: Computational fluid dynamics study of upper airway in different dentofacial deformities
The results in this study suggest that skeletal pattern showed a significant correlation with pressure and resistance along the upper airway.published_or_final_version
Dental Surgery
Master
Master of Dental Surgery
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Junttila, E. (Eija). "Cardiovascular abnormalities after non-traumatic intracranial hemorrhage." Doctoral thesis, Oulun yliopisto, 2012. http://urn.fi/urn:isbn:9789526200200.
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Abstract Cardiovascular abnormalities are frequent after non-traumatic intracranial hemorrhage (NT-IH). They have mainly been studied in patients with subarachnoid hemorrhage (SAH), in which they have been reported to be associated with a poorer outcome. The aim of this observational clinical study was to evaluate cardiovascular abnormalities in patients with NT-IH requiring intensive care: clinical picture, predisposing factors and impact on outcome were examined. Additionally, the validity of cardiac output (CO) monitoring via uncalibrated arterial pressure waveform analysis (APCO, FloTrac/Vigileo™) was evaluated. The thesis was comprised of retrospective (n=229) and prospective (n=108) studies. The cardiovascular abnormalities evaluated were repolarization abnormalities (RAs) in electrocardiography (ECG), myocardial injury and dysfunction, and neurogenic pulmonary edema (NPE). Cardiovascular dysfunction severity was assessed using the Sequential Organ Failure Assessment cardiovascular (SOFAcv) score. Predisposing factors for RAs and NPE were examined. The one-year mortality and functional outcome were assessed. APCO was compared with the intermittent bolus thermodilution technique (TDCO). Cardiovascular abnormalities were almost universal after NT-IH and comparable after intracerebral hemorrhage (ICH) and SAH. Each RAs (QT interval prolongation, ischemic-like ECG changes and morphological end-repolarization abnormalities) had characteristic predisposing factors. The Acute Physiology And Chronic Health Evaluation (APACHE) II score ≥20 and systemic interleukin 6 concentration >40 pg/mL were independent predictors for NPE. In the retrospective study the mortality rate was 32% after SAH and 44% after ICH. In the prospective study the rates for mortality were 18% vs. 29% and for a poor functional outcome 41% vs. 69%, respectively. Ischemic-like ECG changes were associated with a poorer functional outcome. APCO underestimated CO compared to TDCO and was biased by low systemic vascular resistance (SVR). In conclusion, cardiovascular abnormalities after NT-IH are comparable after SAH and ICH. Predisposing factors for each RAs vary. Inflammatory mechanisms play an important role in NPE development. Ischemic-like ECG changes are associated with a poorer one-year functional outcome. The validity of APCO is insufficient and biased by low SVR in patients with NT-IHTiivistelmä Sydämen ja verenkierron toimintahäiriöt ovat yleisiä ei-traumaattisen aivoverenvuodon (NT-IH) jälkeen. Niitä on tutkittu lähinnä lukinkalvonalaisvuotopotilailla (SAV), joilla niiden on todettu olevan yhteydessä huonompaan ennusteeseen. Tässä havainnoivassa kliinisessä tutkimuksessa selvitettiin tehohoidettujen NT-IH -potilaiden sydämen ja verenkierron toimintahäiriöiden kliinistä oirekuvaa, altistavia tekijöitä ja vaikutusta ennusteeseen. Tutkimuksessa arvioitiin myös valtimopainekäyräanalyysiin perustuvan monitorointimenetelmän (APCO, FloTrac/Vigileo™) luotettavuutta mitattaessa sydämen minuuttitilavuutta. Väitöskirjatyö koostui retrospektiivisesta (n=229) ja prospektiivisesta (n=108) tutkimuksesta. Tutkittavia toimintahäiriöitä olivat elektrokardiografiassa (EKG) nähtävät repolarisaatiohäiriöt (RAs), sydänlihaksen vaurio ja supistumishäiriö sekä keuhkopöhö. Sydämen ja verenkierron toimintahäiriön yleistä vaikeusastetta arvioitiin SOFAcv -pisteytyksellä. RAs:lle ja keuhkopöhölle altistavia tekijöitä määritettiin. Potilaiden kuolleisuus ja toiminnallinen ennuste selvitettiin vuoden seuranta-aikana. APCO:a verrattiin lämpölaimennusmenetelmään (TDCO). Sydämen ja verenkierron toimintahäiriöitä esiintyi lähes kaikilla, eivätkä ne oirekuvaltaan eronneet aivokudoksen sisäistä vuotoa (ICH) ja SAV:a sairastavilla potilailla. Eri RAs:llä (QT-ajan pidentyminen, iskeemistyyppiset EKG-muutokset ja loppurepolarisaation morfologiset poikkeavuudet) oli kullekin ominaiset altistavat tekijät. APACHE II –pisteet ≥20 ja veren interleukiini 6 –pitoisuus >40 pg/ml ennustivat keuhkopöhön kehittymistä. Retrospektiivisessä aineistossa kuolleisuus oli 32 % SAV-potilailla ja 44 % ICH-potilailla. Prospektiivisessa aineistossa kuolleisuus ja huono toiminnallinen ennuste olivat vastaavasti 18 % vs. 29 % ja 41 % vs. 69 %. Iskeemistyypiset EKG-muutokset olivat yhteydessä huonompaan toiminnalliseen ennusteeseen. APCO aliarvioi TDCO:a matalan systeemiverenkierron vastuksen (SVR) kasvattaessa harhaa. Yhteenvetona todettakoon, että sydämen ja verenkierron toimintahäiriöt eivät eroa SAV- ja ICH-potilailla. Eri RAs:lle altistavat kullekin ominaiset tekijät. Tulehdukselliset mekanismit ovat keskeisiä keuhkopöhön kehittymisessä. Iskeemistyyppiset EKG-muutokset ovat yhteydessä huonompaan toiminnalliseen ennusteeseen. APCO:n luotettavuus NT-IH -potilailla on riittämätön, ja harhaa lisää matala SVR
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Anderlid, Britt-Marie. "Cryptic chromosome abnormalities in idiopathic mental retardation /." Stockholm : [Karolinska institutets bibl.], 2001. http://diss.kib.ki.se/2001/91-7349-097-0/.
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Berg, Maartje-Maria van den. "Childhood constipation abnormalities in the colorectal function /." [S.l. : Amsterdam : s.n.] ; Universiteit van Amsterdam [Host], 2007. http://dare.uva.nl/document/48517.
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Hermans, Marcus Matheus Hendrik. "Arterial wall abnormalities in chronic kidney disease." Maastricht : Maastricht : Universitaire Pers Maastricht ; University Library, Universiteit Maastricht [host], 2007. http://arno.unimaas.nl/show.cgi?fid=9384.
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Donnelly, R. "Cardiac and Neurohumoral Abnormalities in Systemic Sclerosis." Thesis, Queen's University Belfast, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.517297.
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Gelding, Susan Valerie. "Metabolic abnormalities preceding non-insulin dependent diabetes." Thesis, University College London (University of London), 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.283202.
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Tibber, Marc Samuel. "Developmental abnormalities associated with the hypopigmented retina." Thesis, University College London (University of London), 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.412924.
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Wang, Xinzhu. "Defining the metabolic abnormalities underlying diabetic cardiomyopathy." Thesis, University of Cambridge, 2014. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.708026.
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Morris, Joanna Siriol. "Chromosome abnormalities in breast cancer cell lines." Thesis, University of Cambridge, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.627324.
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Shing, Danielle Christina. "Investigation of genomic abnormalities in Ewing's tumours." Thesis, University of Cambridge, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.619898.
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Mather, Mary Srikanti. "Putative protein abnormalities in amyotrophic lateral sclerosis." Thesis, University of Sussex, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.239078.
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Hettema, Martha Elisabeth. "Micro- and macrovascular abnormalities in systemic sclerosis." [S.l. : [Groningen : s.n.] ; University Library Groningen] [Host], 2008.
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Lipoth, Leon L. 1964. "Neural network based detection of EEG abnormalities." Ottawa, 1991.
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Bissell, Lesley-Anne. "Cardiovascular abnormalities in immune-mediated inflammatory disease." Thesis, University of Leeds, 2016. http://etheses.whiterose.ac.uk/15957/.
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Immune-mediated inflammatory disease (IMID) represents a group of diseases characterised by dysregulation of immune processes with a shared common inflammatory pathway, leading to end-organ damage, of which Rheumatoid Arthritis (RA) and Systemic Sclerosis (SSc) are two important examples. An accelerated risk of cardiovascular disease (CVD) with associated increased mortality is observed in those with IMID; the risk in RA being similar to those with diabetes mellitus. In addition, IMID can directly affect the myocardium independently of atherosclerosis, termed primary myocardial disease, causing further excess mortality; best described in SSc. Determining the disease phenotype most at risk of either macrovascular or primary myocardial disease and having a greater understanding of the underlying pathophysiology is vital to develop effective screening strategies to prevent and manage its complications. Surrogate markers of CVD, including soluble cardiovascular (CV) biomarkers and cardiovascular magnetic resonance (CMR) imaging, can inform of subclinical CVD or risk of progression to clinical CVD; with currently limited data in IMID. Using soluble CV biomarkers and CMR, this thesis demonstrates the presence of subclinical CVD in patients with RA and SSc free of clinical CVD. In RA, these abnormalities associate with traditional CV risk factors; emphasising the importance of their aggressive management. Using CMR, this thesis describes a reduction in left ventricular mass in RA; suggesting pathology other than atherosclerosis. This work investigates specific treatment strategies in the reduction of CV risk, reporting improvement in insulin resistance with TNF inhibition in a randomised controlled trial of early RA. In SSc, the utility of CMR in the assessment of primary myocardial disease is demonstrated, describing cardiac fibrosis in those free of known cardiac disease, associating with a poor prognostic phenotype. Finally, this thesis reports the novel use of an implantable loop recorder in SSc, detecting arrhythmias in patients free of known cardiac disease.
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Mirmojarabian, S. (Seyed). "Signal analysis tool to investigate walking abnormalities." Master's thesis, University of Oulu, 2018. http://jultika.oulu.fi/Record/nbnfioulu-201809062748.
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Abstract. This thesis presents a signal analysis tool, which has been designed to investigate walking abnormalities which are related to foot rolling movements during walking; interaction of foot with ground which is called stance phase. They would cause a wide range of severe anatomical damages such as ankle, leg, heel and back pain in the long-term.
Comparing to the conventional data acquisition setups of biomechanical researches, inertial measurement sensors (IMU), which are being used widely as an appropriate alternative setup recently, facilitate monitoring human movement for a long-term period out of laboratory. This justifies the growing trend of improving the IMU-based algorithms which are designed for events detection, position calculation, and rotation estimation. Therefore, a set of 4 IMUs, placed on shank and foot of both legs, has been used for data collection.
In data processing stage, two novel algorithms have been developed and implemented as the backbone of the designed software aiming to detect and integrate stance phases. The first algorithm was developed to detect stance phases in gait cycle data. Even though the detection of events in gait cycles has been the topic of a majority of biomechanical researches, stance phase as the interval between two consecutive events has not been studied sufficiently. The second algorithm, sensor alignment, generates a rotation matrix which is used to align IMU sensors placed on the same foot and shank. This alignment of the two sensors enables us to add or subtract the data point-wisely to make a more meaningful interpretation of the data regarding thought-out walking abnormalities during phase stances.
The visualized results of the thesis can be considered as an early stage of a more comprehensive research which might lead to quantitative results corresponding to different walking abnormalities.
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Zheng, Jianze. "Use of fluorescence in situ hybridization (FISH) for studying centromere organization and centric fusions in cattle." Title page, contents and abstract only, 1998. http://web4.library.adelaide.edu.au/theses/09A/09az63.pdf.
Full textAbstract:
Includes bibliograpical references (leaves 119-134). The most common chromosome abnormalities in live cattle are various Robertsonian translocations (centric fusions). Two hypotheses have been used to explain how monocentric Robersonian translocation chromosomes are generated: either direct formation, or evolution from dicentic chromosomes. Four main cattle procentric Satellite sequences were used as single and two-colour fluorescence in situ hybridization probes for studying the centromere organisation of cattle autosomes and the rearrangement in two cattle Robertsonian translocation chromosomes, the t(1:29) which is monocentric and found in numerous breeds, and the t(14:20) which is dicentric and found in 2 breeds.
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Kennedy, Daniel P. "Functional abnormalities of the default network in autism." Connect to a 24 p. preview or request complete full text in PDF format. Access restricted to UC campuses, 2007. http://wwwlib.umi.com/cr/ucsd/fullcit?p3274756.
Full textAbstract:
Thesis (Ph. D.)--University of California, San Diego, 2007.Title from first page of PDF file (viewed October 2, 2007). Available via ProQuest Digital Dissertations. Vita. Includes bibliographical references.
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Carter, S. A. "Novel cytogenetic abnormalities in cervical squamous cell carcinoma." Thesis, University of Cambridge, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.597332.
Full textAbstract:
SCC cell lines were karyotyped to identify recurrent aberrations and those providing a selective advantage in individual cases. Karyotypic heterogeneity provided evidence for ongoing chromosomal instability (CIN) in all cell lines but revealed discordance between the levels of numerical CIN (N-CIN) and structural CIN (S-CIN), supporting the notion that different mechanisms underlie these processes. This molecular cytogenetic analysis identified a novel reciprocal translocation t(8:12)(p21.3;p13.31) present in all cells of the SCC cell line MS751, indicative of a selective advantage. The rearrangement resulted in two novel fusion genes, PEX5-LPL on der(8) and LPL-PEX5 on der(12). LPL-PEX5 encodes a truncated transcript but PEX5-LPL encodes a full length chimeric protein, comprising the first exon of PEX5 followed by the majority of LPL coding region, and is the most likely candidate for having driven selection of the translocation. Reverse transcription PCR was used to show that LPL is generally expressed at negligible levels in the cervix whereas PEX5 is expressed constitutively. In concordance, PEX5-LPL was expressed at substantially higher levels than LPL-PEX5. The function of PEX5-LPL might be to drive aberrant expression of the 3’ partner or the chimeric protein might have a modified or novel function. Overexpression of LPL relative to normal cervix was found in over one third of cervical SCC cell lines and primary tumour samples, suggesting it is common in cervical SCC. Findings suggest that PEX5-LPL and LPL overexpression have similar roles in cervical carcinogenesis; functional studies of overexpression elucidated a role for both proteins in increased cellular invasion. The functionally important domain might be shared between these proteins and is most likely to be in the C terminal region of LPL. This C terminal domain may be considered as a novel candidate for targeted therapy of cervical SCC.
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Fervenza, Fernando Custodio. "Membrane transport abnormalities in patients with renal failure." Thesis, University of Oxford, 1990. http://ora.ox.ac.uk/objects/uuid:9c345fc7-7e25-4f47-b41d-feddb8bc5cb7.
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The possibility that changes in membrane transport systems may contribute to the pathophysiology of the uraeraic syndrome has not been extensively studied. This thesis presents a study of eight erythrocyte membrane transport systems, namely the Na/K pump, the amino acid systems y+, ASC, gly, L and T, the nucleoside and choline transporters. The results indicate that, compared to normal controls, K+ flux through the Na/K pump was reduced in chronic renal failure patients (CRF), on haemodialysis (HD), and on continuous ambulatory peritoneal dialysis (CAPD), but was normal in functional transplant (FT) patients' erythrocytes. The number of Na/K pumps per erythrocyte was decreased in CRF and CAPD but showed no differences between HD, FT and Normal controls. The mean turnover rate per pump site was reduced in patients on HD, whereas other groups were not significantly different from controls. Cross-incubation experiments suggest that the lowered pump flux seen in the HD group was due to plasma factors since reversibility of the defect was achieved when those cells were incubated in normal plasma. The defect was completely reversed with a successful transplant. Erythrocytes from haemodialysis patients exhibited an increased uptake of L-lysine through the y+ system. The uptake of L-serine was decreased and the affinity of the ASC system for L-serine was increased in these patients compared with controls. The glycine transporter showed a significant increase in affinity for glycine. The flux of L-leucine and L-tryptophan showed no differences from control cells. Erythrocyte membrane transport of uridine was similar in normal control cells and in those obtained from uraemic patients. Choline influx rates were significantly increased and affinity of the transporter for choline reduced in dialysis patients' erythrocytes. Renal transplant and CRF patients showed variable influx rates which gave a significant negative correlation with creatinine clearance. These results show that there are selective abnormalities in some membrane transport system of the erythrocyte in patients with renal failure. The mechanism and possible significance of these changes are discussed.
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Wilson, Heidi Eileen. "EARLY DIAGNOSIS AND TREATMENT OF CERVICAL TISSUE ABNORMALITIES." Thesis, The University of Arizona, 2003. http://hdl.handle.net/10150/612645.
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The purpose of this clinical project is to invent a new Pap
smear collection instrument and describe beginning research
that is intended to establish an increased endothelial cell
yield with intact nuclei that will lead to increased
sensitivity and specificity of Pap smears with the use of
this new instrument.
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JÃnior, Geraldo Bezerra da Silva. "Renal abnormalities in patients with sickle cell disease." Universidade Federal do CearÃ, 2013. http://www.teses.ufc.br/tde_busca/arquivo.php?codArquivo=10491.
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nÃo hÃABSTRACT Background - Kidney abnormalities are one of the main chronic complications of sickle cell disease (SCD). The aim of this study is to investigate the occurrence of renal abnormalities among patients with SCD. Methods - This is a cohort study with 26 SCD patients followed in a medical center in Fortaleza, CearÃ, Brazil. Urinary acidification and concentration tests were performed using calcium chloride (CaCl2), and after a 12h period of water and food deprivation. Fractional excretion of sodium (FENa), transtubular potassium gradient (TTKG) and solute free water reabsorption (TcH2O) were calculated. The SCD group was compared to a group of 15 healthy volunteers (control group). Aquaporin-2 (AQP2) and renal outer medullary K+ channels (ROMK) were quantified through exosomes search in urine. Results - Patient`s average age and gender were similar to controls. Urinary acidification deficit was found in 5 SCD patients (19.2%), who presented urinary pH > 5.5 after CaCl2 test. Urinary osmolality was significantly lower in SCD patients (355Â60 vs. 818Â202mOsm/kg, p=0.0001, after 12h period water deprivation). Urinary concentration deficit was found in all SCD patients (100%). FENa was higher among SCD patients (0.75Â0.3 vs. 0.55Â0.2%, p=0.02). The TTKG was higher in SCD patients (5.5Â2.5 vs. 3.0Â1.5, p=0.001), and TcH2O was lower (0.22Â0.3 vs. 1.1Â0.3L/day, p=0.0001). The search for AQP2 did not show significant difference between SCD patients and control group (102Â6.0 vs. 100Â7.2%, p=0.874), as well as for ROMK (172Â38 vs. 100Â25%, p=0.207). Conclusions - SCD is associated with important kidney dysfunction. The main abnormalities found were urinary concentrating and incomplete distal acidification defect. There was also an increase in the potassium transport and decrease in water transport, evidencing the occurrence of distal tubular dysfunction.
RESUMO IntroduÃÃo - AlteraÃÃes renais representam uma das complicaÃÃes crÃnicas principais da doenÃa falciforme (DF). O objetivo deste estudo à investigar a ocorrÃncia de alteraÃÃes renais em pacientes com DF. MÃtodos - Foi realizado estudo de coorte com 26 pacientes com DF acompanhados em um ambulatÃrio de Fortaleza, CearÃ, Brasil. Testes de acidificaÃÃo e concentraÃÃo urinÃrias foram realizados usando cloreto de cÃlcio (CaCl2) e apÃs perÃodo de 12h de jejum e privaÃÃo hÃdrica. Foram calculados fraÃÃo de excreÃÃo de sÃdio (FENa), transporte transtubular de potÃssio (TTKG) e transporte de Ãgua livre de solutos (TcH2O). O grupo de pacientes com DF foi comparado com um grupo de 15 voluntÃrios sadios (grupo controle). Os transportadores aquaporina-2 (AQP2) e canal de K+ apical (ROMK) foram quantificados pela pesquisa de exossomas na urina. Resultados - A mÃdia de idade e a distribuiÃÃo de gÃnero foi similar entre os dois grupos. DÃficit de acidificaÃÃo urinÃria foi encontrada em 5 pacientes com DF (19,2%), que apresentaram pH urinÃrio > 5,5 apÃs o teste com CaCl2. A osmolaridade urinÃria foi significativamente menor entre os pacientes com DF (355Â60 vs. 818Â202mOsm/kg, p=0,0001, apÃs perÃodo de 12h de jejum e privaÃÃo hÃdrica). DÃficit de concentraÃÃo urinÃria foi encontrado em todos os casos de DF (100%). A FENa foi maior entre os pacientes com DF (0,75Â0,3 vs. 0,55Â0,2%, p=0,02). O TTKG tambÃm foi maior nos pacientes com DF (5,5Â2,5 vs. 3,0Â1,5, p=0,001), e o TcH2O foi menor (0,22Â0,3 vs. 1,1Â0,3L/dia, p=0,0001). A pesquisa de AQP2 nÃo mostrou diferenÃa significativa em relaÃÃo ao grupo controle (102Â6,0 vs. 100Â7,2%, p=0,874), bem como a do canal ROMK (172Â38 vs. 100Â25%, p=0,207). ConclusÃo - A DF à associada a importantes alteraÃÃes renais. As principais alteraÃÃes encontradas foram dÃficit de concentraÃÃo e acidificaÃÃo urinÃria. Foi ainda observado aumento no transporte
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Wong, Edwin Kwan Soon. "Complement abnormalities in membranoproliferative glomerulonephritis and C3 glomerulopathy." Thesis, University of Newcastle upon Tyne, 2016. http://hdl.handle.net/10443/3307.
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Membranoproliferative glomerulonephritis (MPGN) and C3 glomerulopathy (C3G) are rare diseases that associate with dysregulation of the alternative pathway (AP). The earliest abnormalities associated with these diseases were C3 nephritic factor and also rare genetic variants in the gene CFH that caused factor H (FH) deficiency. Since then, other acquired and genetic abnormalities in AP have been reported in MPGN and C3G. The aim of this project was to screen cohorts of MPGN and C3G for such abnormalities. Screening for rare sequence variants in genes encoding proteins involved in AP activity in two cohorts revealed a low prevalence of genetic abnormalities. Compared to the prevalence of C3 nephritic factor and autoantibodies to complement proteins, it was clear that the predominant abnormalities in these cohorts were acquired. Though few, rare genetic variants identified in CFH were studied in functional studies. The first was identified in a case of familial MPGN in the N-terminal domain of CFH. Functional studies included surface plasmon resonance and haemolytic assays to study a mutant protein in the setting of a short fragment comprising the N-terminal domain of FH. This initial study confirmed loss of function in a familial variant and formed the basis for further studies. In studies of eight other variants identified in MPGN and C3G and two other diseases that share complement risk factors, only two variants were likely to be functionally significant as demonstrated by complete loss of function. This highlights the need for such studies to correctly identify important variants. The significant functional effects initially identified in studies using short fragments were then confirmed in studies using full length protein. The significance of rare genetic variants in CFH needs to be considered even though MPGN and C3G are largely an autoimmune phenomenon.
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Eckerle, Bryan. "Prevalence of Echocardiographic Abnormalities in Acute Ischemic Stroke." University of Cincinnati / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459528281.
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Auwerda, J. J. A. "Acquired coagulation abnormalities and thrombosis in multiple myeloma." [S.l.] : Rotterdam : [The Author] ; Erasmus University [Host], 2008. http://hdl.handle.net/1765/14217.
Full text
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Morgan, John T. "Microglial and neuronal abnormalities in the autistic brain." Diss., [La Jolla, Calif.] : University of California, San Diego, 2009. http://wwwlib.umi.com/cr/ucsd/fullcit?p3372011.
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Thesis (Ph. D.)--University of California, San Diego, 2009.Title from first page of PDF file (viewed October 20, 2009). Available via ProQuest Digital Dissertations. Vita. Includes bibliographical references.
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Tu, Zhanhan. "Visual abnormalities and sensory integration in infantile nystagmus." Thesis, University of Leicester, 2016. http://hdl.handle.net/2381/37704.
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Introduction: Individuals with albinism and IIN demonstrate retinal structural abnormalities. However, there are no consistent functional retinal differences apparent using full-field flash electroretinography (ffERG). This thesis aims to investigate abnormalities in albinism and IIN at: (i) early stages of visual processing (i.e. retinal deficits) using ffERG; (ii) late stages of visual processing, where the brain integrates visual inputs with other sensory to control posture, using Computerized Dynamic Posturography (CDP). Methods: ffERG and OCT were used to measure functional and structural retinal deficits, respectively. Binocular pupil tracker was used to characterise nystagmus to investigate its effect on ffERG responses. CDP was used to evaluate sensory organization during postural control. Results: Patients with IIN had significant smaller a- and b-wave amplitudes under photopic condition compared to healthy controls. However, individuals with albinism were relatively normal. Test-retest showed that ffERG testing is mostly reliability despite nystagmus being present. Photopic a-wave amplitudes were correlated with combined photoreceptor layer thickness and scotopic S.F. b-wave amplitudes were correlated with the inner nuclear layer thickness. Patients with albinism and IIN have relative good overall postural control. However, both groups present lower visual score and higher somatosensory score than controls. The albinism group also had a higher vestibular sensory score. Conclusion: Reductions of photopic a- and b-wave amplitudes in IIN indicate a subclinical retinal deficit, which has not been previously detected. Interestingly, participants with albinism did not show abnormalities probably due to hypopigmentation shifting the baseline of ERG responses into normal ranges. Correlations between ffERGs and OCT measurements suggest ffERG may contain useful information in albinism and open up an interesting field for future study. Brain plasticity can rearrange the weighting of sensory inputs in both patient groups with the albinism group attaching a stronger weighting to vestibular cues than the other two groups.
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ERBA, BENEDETTA GAIA. "ABNORMALITIES OF THE ENDOTHELIAL LINEAGE IN PRIMARY MYELOFIBROSIS." Doctoral thesis, Università degli Studi di Milano, 2015. http://hdl.handle.net/2434/262619.
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Primary Myelofibrosis (PMF) belongs to the family of Myeloproliferative neoplasms (MPNs), a heterogeneous group of related clonal malignant diseases characterized by the oncogenic transformation of the multipotent hematopoietic progenitor cell (HPC), which leads PMF patients to develop massive bone marrow (BM) fibrosis. Clinical hallmarks also include progressive splenomegaly, anemia and weakness due to ineffective hematopoiesis and excessive production of pro-inflammatory cytokines, which play a central role in mediating increased deposition of BM stromal fibers. So far, no curative treatment for this pathology exists with the exception of allogenic stem cell transplant, thus highlighting the great need to find an alternative and less risky therapy.
Although fibroblasts are directly implicated in fibrosis development, endothelial cells (ECs) can also play a role in PMF; indeed, when activated by inflammatory cytokines such as TGF-β, they undergo a process called Endothelial-to-mesenchymal transition (EndMT), leading ECs to acquire fibroblastic features.
Our results show that ECs can undergo EndMT during the development of PMF both in patients and in a MPN mouse model of the disease. This process occurs during early stages of fibrotic degeneration and is primarily mediated by the release of TGF-β by megakaryocytes (MKs) and platelets. Moreover, patients with different genetic mutations inducing PMF all undergo EndMT, thus proposing it as a common mechanism of fibrosis development.
We also demonstrate that TGF-β induces endogenous BMP4 and BMP6 up-regulation in splenic ECs, further sustaining EndMT phenotype. Moreover, our results show that the in vitro treatment of splenic ECs with TGF-β and BMP inhibitors can revert EndMT phenotype, thus opening the possibility to the use of specific and more targeted therapy for PMF patients to achieve fibrosis remission.
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Downie, Sarah Elizabeth. "Detection of chromosomes and chromosomal abnormalities in human sperm." Title page, contents and overview only, 1999. http://web4.library.adelaide.edu.au/theses/09PH/09phd751.pdf.
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Bibliography: leaves 135-151. A study of chromosomal abnormalities and the localisation of chromosomes in human sperm, especially from men with TSD, using fluorescence in situ hybridization (FISH). The project entailed: 1. development of reliable FISH protocols, 2. determination of basline frequencies of aneuploidy, 3. analysis of chromosomal abnormalities in men with severe TSD and 4. assessment of the localisation of individual chromosomes within the sperm head.
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Vasseleu, Cathryn. "Cleidocranial dysplastic mutant in the mouse : dental findings." Thesis, The University of Sydney, 1986. https://hdl.handle.net/2123/26032.
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Cleidocranial dysplasia is a genetic disorder which affects not only processes of osteogenesis, but also processes of tooth eruption, tooth induction, and craniofacial growth. These last three complications make the condition one which may interest those working in the fields of oral and craniofacial biology. The condition is neither life-threatening nor incapacitating. However, elucidation of the pathological process which it embodies may provide valuable insights into the normal mechanisms of tooth eruption, tooth induction and craniofacial growth, each of which remains a largely unsolved puzzle. The discovery of a mouse mutant which appears to have a genetic disorder homologous to the condition found in humans may provide scientists with an opportunity to study aspects of the disorder in a detailed manner which might otherwise be impossible. The extent to which the condition affects craniofacial growth and the dentition of the Ccd mutant has not been investigated, but if such processes are similarly affected in both mice and humans, then elucidation of these in the House may assist scientists not only in achieving an understanding of human Cleidocranial dysplasia, but may also help with the unravelling of normal mechanisms of craniofacial and dental development.