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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
31

Genetic variation at the NPT2 locus : implications for hereditary hypophosphatemic rickets with hypercalciuria and osteoporosis

Jones, Andrew Owain. January 2000 (has links)
No description available.
32

The Co-Occurrence of Scurvy and Rickets in 16th to 18th Century Skeletal Material from Douai, France.

Schattmann, Annabelle F. 06 1900 (has links)
Disease is not a unique or singular phenomenon. The medical literature contains multiple reports discussing disease interactions and co-occurrence which remains an important issue. Despite this, there has been no systematic investigation of disease co-occurrence in paleopathology. This thesis will begin to fill the gap by producing a detailed analysis of the pathological indicators for scurvy, rickets, and their co-occurrence, focussing on features of co-occurrence and their identification. The Collégiale Saint-Amé collection from 16th to 18th century Douai, France includes 48 individuals ranging from fetal to five years of age. Previous research indicated a large number of potential cases of scurvy and rickets in the juveniles (Devriendt et al. 2010). The current study identified 12 cases of possible co-occurrence based on macroscopic, radiographic, and microscopic techniques; biocultural and historical data supported disease presence. Macroscopic results indicate that lesions associated with scurvy are identifiable and the vascular system is not known to be directly affected by rickets. Rickets features are present but changes are subtle and reduced in prevalence. Radiographs demonstrate features of both diseases but the presence or absence of the line of Fraenkel, a scurvy feature, was useful in identifying the likely dominant disease process. Diagenetic change significantly impacted microscopic investigations but the technique provided some supporting evidence for the presence of rickets. The results clearly demonstrate that cases of co-occurrence of scurvy and rickets are present and identifiable in the archaeological record. Important factors for recognition include the sequence in which conditions develop and duration of illness. Presently only cases with moderately or better developed features of both scurvy and rickets can be identified. Use of multiple techniques was critical to observe subtle changes and build a case for disease presence. Further research on co-occurrence of any diseases is encouraged to create a fuller understanding of past disease. / Thesis / Master of Arts (MA)
33

Molecular Analysis Of The Epiphyseal Growth Plate In Rachitic Broilers: Evidence For The Etilogy Of The Condition

Rutt, Julianne Eileen 17 October 2008 (has links)
No description available.
34

TOOTH TALES: WHAT INTERNAL DENTAL STUCTURES REVEAL ABOUT VITAMIN D DEFICIENCY AND AGE ESTIMATION

D'Ortenzio, Lori 14 June 2018 (has links)
Exploration of the internal structures of teeth is complex and has the potential to add greatly to existing information about the lifecourse of archaeological individuals, but has yet to realize its full interpretative value as an avenue of bioarchaeological inquiry. This thesis consists of three papers that focus on the potential for internal dental structures to provide important information on chronological age, and physiological alterations linked to vitamin D deficiency. The first paper used SEM, microscopic imaging, and histological investigation of tooth dentin to determine the presence of mineralisation defects, observed as interglobular dentin (IGD) (spaces following incremental lines) in living (with known medical history) and archaeological individuals with clear healed rickets. This paper demonstrated that incremental bands of IGD are indicative of vitamin D deficiency. The second paper expands identification of those with deficiency by quantifying morphological changes in pulp chambers of living and archaeological individuals. Pulp chambers were radiographed, evaluated histologically, and measured. Those with evidence of past vitamin D deficiency displayed constricted or chair shaped pulp horns. This radiographic technique provides a non-destructive tool to identify individuals that experienced childhood vitamin D deficiency. The role vitamin D plays in the development of IGD over the lifecourse requires that accurate age estimates be conducted on older as well as younger adults. The third paper used a new version of pulp/tooth area ratios to provide an accurate estimation of age-at-death in older adults (50+). ImageJ software was used to calculate areas on sectioned teeth and results provided a mean absolute error (MAE) of ±3.9 years in older adults. The results described in this thesis contribute to broader topics of discussion in anthropology, such as investigating health and metabolic disease in human populations, and adds to the ongoing discussion and evaluation of age-at-death techniques used to extend our ability to study the lifecourse of archaeological individuals. / Dissertation / Doctor of Philosophy (PhD) / Teeth record life events and the three papers in this thesis use dental structures to provide methodological foundations to evaluate the occurrence and severity of vitamin D deficiency in early life. The potential long-term consequences of such events are investigated through accurate recognition of older adults. Vitamin D regulates skeletal health by mediating calcium absorption and phosphorous homeostasis and deficiency is recognised as an important health concern. Accurate identification of older adults is also a widely recognised problem in skeletal studies. Age-at-death estimation in older individuals was calculated and the exploration of abnormal pulp chamber shape and mineralisation defects in tooth dentin was done to determine vitamin D status in both younger and older individuals. This research established that internal dental structures enables past episodes of vitamin D deficiency to be recognized in cases where skeletal indicators are not clear and permits increased precision in age-at-death estimations in the older individual.
35

Difference in Death? A Lost Neolithic Inhumation Cemetery with Britain’s Earliest Case of Rickets, at Balevullin, Western Scotland

Armit, Ian, Shapland, Fiona, Montgomery, Janet, Beaumont, Julia 23 June 2016 (has links)
Yes / Recent radiocarbon dating of a skeleton from Balevullin, Tiree, excavated in the early twentieth century, demonstrates that it dates to the Neolithic period, rather than the Iron Age as originally expected. Osteological examination suggests that the individual was a young adult woman, exhibiting osteological deformities consistent with vitamin D deficiency, most likely deriving from childhood rickets; an exceptionally early identification of the disease in the UK with potentially significant social implications. Isotopic analysis supports the osteological evidence for physiological stress in childhood and further suggests that the woman was most probably local to the islands. Analysis of the surviving written archive reveals that the surviving skeleton was one of several originally recovered from the site, making Balevullin an exceptionally rare example of a British Neolithic inhumation cemetery.
36

Investigating the high incidence of bone disorders in a broiler farm : a case study

Mkhize, Felicity Nomfuzo 03 1900 (has links)
Thesis (MPhil (Animal Sciences))--University of Stellenbosch, 2006. / Rickets is described as a disease that affects young growing poultry. Poorly mineralized bones with thickened and irregular growth plates characterize it. The onset of rickets is characterized by a failure of mineralization of cartilage and bone. Other symptoms of rickets include reluctance to movement in affected birds. These birds will sit on their hocks and if startled they use their wings for balance. On necropsy, bones are soft and fragile and they have thickened growth plates. In this study 30% of the chicks aged between 7 and 8 days from a broiler flock, started showing splay leg problems. Affected chicks were unable to support their weight on their legs, some showing paralysis. The bones were soft and rubbery. To try and identify the possible cause, bones from the affected chicks were analyzed for calcium (Ca) and phosphorus (P) to determine the Ca:P ratio. Blood serum was also analyzed for the mineral content. Ca and P were the main focus of the tests as the problem was suspected to be rickets. The feed was analyzed for protein, Ca and P. The bone analysis showed a Ca:P ratio of less than 2:1, while results of the blood serum showed an inverse Ca: P ratio. The analysis results of the feed as well as the bones showed an imbalance in the Ca:P ratio which according to literature and research done is a possible cause for rickets. These findings combined with the symptoms displayed by the affected birds, lead to the suggestion that the problem in this study was rickets.
37

A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome

Merz, Lea Maria, Bürger, Florian, Ziegelasch, Niels, Zenker, Martin, Wieland, Ilse, Lipek, Tobias, Wallborn, Tillmann, Terliesner, Nicolas, Prenzel, Freerk, Siekmeyer, Manuela, Dittrich, Katalin 06 June 2023 (has links)
Epidermal nevus syndromes encompass a highly heterogeneous group of systemic disorders, characterized by epidermal nevi, and a spectrum of neuromuscular, ocular, and bone abnormalities. Cutaneous-skeletal hypophosphatemia syndrome (CSHS) constitutes a specific sub-entity in which elevated levels of fibroblast growth factor-23 cause hypophosphatemic rickets that are, to date, not amenable to causal therapy. Here, we report the first long-term follow-up of causal treatment with burosumab in a 3-year-old female patient with CSHS. 4 weeks after initiation of burosumab treatment, serum phosphate normalized to age-appropriate levels. Furthermore, long-term follow-up of 42 months revealed significant improvement of linear growth and gross physical functions, including respiratory insufficiency. Radiographic rickets severity as well as subjective bone pain were strongly reduced, and no side effects were observed over the course of treatment. In summary, we, here, report about a successful treatment of hypophosphatemic rickets in CSHS with burosumab over the time course of 42 months. In our patient, burosumab showed convincing efficacy and safety profile, without any loss of effect or increase of dose.
38

Morbidity, Rickets, and Long-Bone Growth in Post-Medieval Britain: A Cross-Population Analysis.

Ogden, Alan R., Pinhasi, R., Shaw, P., White, B. January 2006 (has links)
No / BACKGROUND: Vitamin D deficiency rickets is associated with skeletal deformities including swollen rib junctions, bowing of the legs, and the flaring and fraying of the wrist and long-bone metaphyses. There is, however, scarce information on the direct effect of rickets on skeletal growth in either present or past populations. AIM: The study investigated the effect of vitamin D deficiency rickets on long-bone growth in two post-medieval skeletal populations from East London (Broadgate and Christ Church Spitalfields). Subsequently, inter-population growth variations in relation to non-specific environmental stress (dental enamel defects), industrialization, urbanization and socio-economic status during infancy (birth to 3 years) and early childhood (3-7 years) were examined. SUBJECTS AND METHODS: Data on long-bone diaphyseal length dimensions and stress indicators of 234 subadults from Anglo-Saxon, late medieval and post-medieval archaeological skeletal samples were analysed using both linear and non-linear growth models. RESULTS: Rickets had no effect on the growth curves for any of the long bones studied. However, pronounced variations in growth between the four populations were noted, mainly during infancy. The diaphyseal length of long bones of Broadgate were significantly smaller-per-age than those of Spitalfields and the other samples up to the age of 4 years, and were associated with a high prevalence of enamel defects during early infancy. CONCLUSION: Socio-economic status, rather than urbanization, industrialization or rickets, was the central factor behind the observed differences in growth among the post-medieval populations. The observed inter-population growth variations were only significant during infancy.
39

Picking up the pieces: Utilizing the diagnostic potential of poorly preserved remains.

Brickley, M.B., Buckberry, Jo January 2015 (has links)
No / With pressures on time and resources available to those undertaking research in paleopathology, poorly preserved archaeological human remains can often receive limited attention or be completely excluded from the analysis of archaeological sites. Although incomplete skeletons often yield minimal demographic information and can complicate the diagnosis of some pathological conditions, this is not universal. Significant information can be obtained even in partial remains on metabolic bone diseases (where, by definition, the whole skeleton is involved), and for conditions such as osteoarthritis and fractures which can be diagnosed in isolation. We present an example of an incomplete skeleton that provided valuable new information on pathological changes associated with osteomalacia, a condition that has been little studied to date in paleopathology. This skeleton also contributes to our understanding of the factors surrounding the classification of fractures, and provides new insight into the full range of circumstances in which eburnation can develop. This example demonstrates the value of including partial and poorly preserved skeletons in paleopathological analysis and the extent of information that can be obtained.
40

The relationship between Vitamin D deficiency and leprosy in two English medieval populations

Papadopoulou, S., Buckberry, Jo 07 November 2019 (has links)
Yes / In palaeopathology, a well-established approach to malnutrition and ill-health is the study of metabolic conditions. Leprosy is a mycobacterial disease that is manifested on the bones, and is commonly studied in archaeological contexts. Vitamin D is essential for maintaining a normal immune system, and thus a metabolic insufficiency could have a major effect in the resistance of an individual to invading pathogens. It has been indicated by clinical studies that there is an increase in the risk of contracting tuberculosis for individuals with Vitamin D deficiency, and like TB, leprosy is a disease of the poor, and it is more severe in individuals with low resistance to the pathogen. The project investigated the immunological aspect of leprosy by investigating the comorbidity of Vitamin D deficiency and the disease. During the study, the prevalence rates of Vitamin D deficiency (residual rickets and osteomalacia) were compared for adults in two medieval populations: adults with skeletal evidence of lepromatous leprosy from the leprosarium of St James and Mary Magdalene in Chichester (n=62) and adults from the non-leprous population found in Box Lane, Pontefract (n=52), both in England. Macroscopic analysis identified only one probable case of residual rickets and two possible cases of osteomalacia, providing no statistical significance in the relationship between the conditions. The present article focuses on these results, aiming to underline the reasons behind negative results in research, caused either by failed methodology or the insufficient collection of samples.

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