Global ETD Search

31	Undefined myasthenias : clinical and molecular characterisation and optimised therapy Cruz, Pedro M. Rodríguez January 2017 (has links) Congenital myasthenic syndromes (CMS) are a group of heterogeneous disorders caused by mutations in genes encoding for proteins that are essential for neuromuscular transmission. All CMS share the clinical feature of fatigable muscle weakness. The differential diagnosis of CMS is wide, with a range of diseases going from autoimmune myasthenia gravis to muscle disorders. In this thesis, it was shown that measuring antibodies to clustered acetylcholine receptors (AChRs) by cell-based assay is helpful in the differential diagnosis of CMS. The findings of the current investigations showed that mutations in COL13A1, encoding the Collagen Type XIII α1 chain, were responsible for the symptoms of several patients with previously undefined myasthenias. In addition, this work described the clinical and complementary features of a novel CMS subtype due to mutations in the glycosylation pathway gene GMPPB. Investigations on a novel MUSK missense mutation (p.Ala617Val) uncovered previously unrecognised mechanisms of how levels of MuSK phosphorylation are critical to maintain synaptic structure, and guided suitable treatment for the patient. The study on the clinical and molecular basis of stridor, a novel clinical feature recently identified in patients with DOK7-CMS, prompted the identification of a novel DOK7 isoform, which warrants further investigation to elucidate its role in AChR clustering. Finally, the therapy of patients with severe AChR-deficiency was optimised thanks to a case series study that showed a robust improvement following the addition of β2-adrenergic agonists to their long-term treatment regime that included pyridostigmine.
32	Mathematical models for educational simulation of uterine contractions during labor Bastos, Luisa Ferreira January 2010 (has links) Tese de mestrado. Engenharia Biomédica. Faculdade de Engenharia. Universidade do Porto. 2010 Emergências médicas Emergências obstétricas Simuladores educacionais Simuladores obstétricos Monitorização do trabalho de parto Simulão dos sinais de atividade uterina Modelo farmacodinâmico da ocitocina Modelo farmacodinâmico do salbutamol Profissionais de saúde Modelos matemáticos
33	Liquid crystalline phase as a probe for crystal engineering of lactose: carrier for pulmonary drug delivery Patil, S.S., Mahadik, K.R., Paradkar, Anant R 02 1900 (has links) No / The current work was undertaken to assess suitability of liquid crystalline phase for engineering of lactose crystals and their utility as a carrier in dry powder inhalation formulations. Saturated lactose solution was poured in molten glyceryl monooleate which subsequently transformed into gel. The gel microstructure was analyzed by PPL microscopy and SAXS. Lactose particles recovered from gels after 48 h were analyzed for polymorphism using techniques such as FTIR, XRD, DSC and TGA. Particle size, morphology and aerosolisation properties of prepared lactose were analyzed using Anderson cascade impactor. In situ seeding followed by growth of lactose crystals took place in gels with cubic microstructure as revealed by PPL microscopy and SAXS. Elongated (size approximately 71 mum) lactose particles with smooth surface containing mixture of alpha and beta-lactose was recovered from gel, however percentage of alpha-lactose was more as compared to beta-lactose. The aerosolisation parameters such as RD, ED, %FPF and % recovery of lactose recovered from gel (LPL) were found to be comparable to Respitose(R) ML001. Thus LC phase (cubic) can be used for engineering of lactose crystals so as to obtain particles with smooth surface, high elongation ratio and further they can be used as carrier in DPI formulations. Administration Inhalation Calorimetry Differential scanning Chemistry Pharmaceutical Crystallization Drug Carriers Glycerides Lactose Liquid Crystals Microscopy Particle Size Powder diffraction Scattering Small angle spectroscopy Fourier transform Infrared Thermogravimetry X-ray diffraction Cascade impactor Cubic phase Glyceryl monooleate Lactose monohydrate Salbutamol sulfate

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