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Polimorfism

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https://www.readbyqxmd.com/read/27080228/combination-of-a-triple-alpha-globin-gene-with-beta-thalassemia-in-a-gypsy-family-importance-of-the-genetic-testing-in-the-diagnosis-and-search-for-a-donor-for-bone-marrow-transplantation-for-one-of-their-children
#1
Flor Yus Cebrian, María del Valle Recasens Flores, Silvia Izquierdo Álvarez, Ingrid Parra Salinas, Carmen Rodriguez-Vigil Iturrate
BACKGROUND: The simultaneous presence of a heterozygous β-thalassemia with α-gene triplication may cause anything from a thalassemia trait to thalassemia intermedia of mild to moderate severity. CASE PRESENTATION: An 8-month-old ethnic Gypsy male infant with failure to thrive from birth, mild jaundice and splenomegaly. Clinical signs were compatible with severe microcytic anemia requiring bi-monthly blood transfusions. The β-thalassemia gene analysis found homozygous mutation IVS-I-110 (G>A) (c...
2016: BMC Research Notes
https://www.readbyqxmd.com/read/20920961/-pneumococcal-surface-protein-a-pspa-families-relation-with-serotypes-and-clinical-site-of-infection
#2
Clara Mayoral, Mara Della Bianca, María Rosa Baroni, Rita Giani, Mabel Regueira, Fabián Zalazar
PspA, a pneumococcal surface protein, is highly immunogenic and common to all serotypes. Although pspA gene shows a great heterogeneity at the N-terminal region, PspA protein has conserved epytopes which are able to elicit protective cross-reaction against various serotypes presenting different PspA. In spite of the high polimorfism of the PspA, three majority families can be identified. These properties convert PspA as ideal candidate for the formulation of a pneumococcal vaccine. Investigations of the PspA families were mostly carried out on prevalent serotypes in other countries...
2010: Medicina
https://www.readbyqxmd.com/read/16053010/-efficacy-and-safety-of-two-vitamin-supplement-regimens-on-homocysteine-levels-in-hemodialysis-patients-prospective-randomized-clinical-trial
#3
RANDOMIZED CONTROLLED TRIAL
J E Sánchez Alvarez, L Pérez Tamajón, D Hernández, A Alvarez González, P Delgado, V Lorenzo
UNLABELLED: High levels of homocysteine (tHcy) are frecuent in MHD patients, and recognized as a risk factor for cardiovascular events. Vitamin supplements have been shown to lower serum Hcys, although optimal dose and efficacy is not well defined. Moreover, methylenetetrahydrofolate reductase (MTHFR) gene polymorphism can modulate its prevalence and response to treatment. OBJECTIVE: To evaluate efficacy and safety of two vitamin supplement regimens on Hcys serum levels over a 12 month period...
2005: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/16014297/application-of-molecular-methods-to-demonstrate-species-and-strain-evolution-of-acetic-acid-bacteria-population-during-wine-production
#4
Angel González, Núria Hierro, Montse Poblet, Albert Mas, José Manuel Guillamón
The growth of acetic acid bacteria on grapes or throughout the winemaking process influences the quality of wine, mainly because it increases the volatile acidity. The objective of this study was to analyse how the acetic acid bacteria population evolves in the changing environment of the grape surface and during wine fermentation. We have analysed the influence of yeast inoculation and SO2 addition on acetic acid bacteria populations. These bacteria were analysed at both the species and the strain level by molecular methods such as Restriction Fragment Length Polimorfism (RFLP) of amplified 16S rDNA, and amplification by polymerase chain reaction of Enterobacterial Repetitive Intergenic Consensus (ERIC-PCR) and Repetitive Extragenic Palindromic (REP-PCR)...
July 25, 2005: International Journal of Food Microbiology
https://www.readbyqxmd.com/read/14595502/-neuropsychiatric-disturbances-in-wilson-s-disease-and-use-of-electroconvulsive-therapy-case-report
#5
REVIEW
Adriano C T Rodrigues, Paulo Dalgalarrondo
Wilson's disease consists in a inborn error of metabolism with marked neuropsychiatric manifestations. These manifestations need to be correctly identified and treated. There are four neuropsychiatric symptoms clusters established for Wilson's disease patients: behavior and/or personality disorders, mood disorders, cognitive deficits, and psychotic manifestations. Although such patients are more commonly seen in neurological and hepatological settings, mental health professionals must keep in mind a high level of suspicion, once first presentations may be of psychiatric nature...
September 2003: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/12025448/-incidence-of-cerebral-vascular-accident
#6
Maria Eduarda C Augusto
The incidence of the patient who has got cerebral vascular stroke in the internment of the medical services of the district hospitals (level 1) is, in general, and in other Portuguese hospitals, very large and takes great part of the resources, physical space, team's time of caring/treatment and costs per service. This kind of stroke happens in an advanced aged group with polimorf and chronical pathologic situation, concerning a serious prognostic. A retrospective and statistical study was done in the service of medicine from all internments cases in five years, (1990-1994) in the Hospital Candido Figueiredo, Tondela...
January 2002: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/2091568/-orbital-myositis-an-ultrastructural-and-immunohistochemical-study
#7
M Cerdá-Nicolás, M Pérez Bacete, J Barberá Alacreu, A Peydró Olaya
We present a morphological and ultrastructural study from one case of orbitary myositis in a 35 years old male patient with asymmetrical localytation and clinical behaviour as a tumor. The morphological study shows a chronic inflammatory lesion which causes atrophy and necrosis of the muscular tissue. On the ultrastructural image it is remarkable the atrophy of the muscle fibers with loos of the sarcomers, joined with signs of regeneration. The inflammatory infiltrate is polimorfous, with T and B cells immunihistochemically detected...
November 1990: Archivos de Neurobiologiá
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