Top PDF Programa de Escuelas Promotoras de Salud en la Escuela “Héroes del Cenepa” de la parroquia Patuca, 2013.
Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity.
... Wilson’s disease is an autosomal recessive disorder caused by more than 500 mutations in ATP7B gene presenting considerably clinical manifestations heterogeneity even in patients with a ...
SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype-Phenotype Correlations
... included in the ...patients with NS enrolled in research protocols. Nearly all subjects of this cohort were of European ancestry, with the majority being ...by clinical ...
Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.
... study of KCNQ4 mutations was carried out to 1) determine the prevalence by unbiased population-based genetic screening, 2) clarify the mutation spectrum and ...
Communities of parasite metazoans in Piaractus brachypomus (Pisces, Serrasalmidae) in the lower Amazon River (Brazil)
... aim of this study was to investigate the component community of parasite metazoans of Piaractus brachypomus in the lower Amazon River, northern ...viatorum and Notozothecium ...
André Marubayashi Hidalgo1 , Elias Nunes Martins2 , Alexandre Leseur dos Santos
... end of the trial performance data was obtained from 628 birds (82 red line, 152 blue line and 212 yellow line, all laying lines) and 182 meat line ...(g) in two weighings, the first at 70 days ...
APOL1 risk variants and kidney disease: what we know so far
... covered with its foot processes, inevitably causing stress on the entire ...individuals with HRG have an inadequate number of podocytes for their ...survival of glomeruli in sufficient ...
Rev. Bras. Hematol. Hemoter. vol.25 número3
... associated with a very high frequency of bone marrow failure, developmental abnormalities, such as aplasia of the thumb and radius, growth retardation, ...
MORPHOMETRY AND VARIATIONS OF MALLEUS WITH CLINICAL CORRELATIONS
... ers of t he m alleus st udied include t ot al lengt h (m axim al dist ance bet w een t he t op of t he head and t he end of t he handle), lengt h of handle (dist ance from t he end ...
APOL1 risk variants and kidney disease: what we know so far
... covered with its foot processes, inevitably causing stress on the entire ...individuals with HRG have an inadequate number of podocytes for their ...survival of glomeruli in sufficient ...
Arq. NeuroPsiquiatr. vol.71 número8
... (Wilson’s disease in Southern Brazil: genotype- phenotype correlation and description of two novel mutations in ATP7B gene) in this issue addresses the frequency ...
Genotype-phenotype correlation in Brazillian Rett syndrome patients
... (3.65% of all variations), previously described, and an alter- ation whose pathogenicity was not been previously deter- mined were also found ...(1.1% of all ...Most of the patho- genic point ...
Frequency of TGF-beta and IFN-gamma Genotype as Risk Factors for Acute Kidney Injury and Death in Intensive Care Unit Patients
... levels of circulating TGF- �1 induced progressive renal disease characterized by mesangial expansion, accumulation of glomerular immune deposits and matrix proteins, and interstitial ...
Aspectos epidemiológicos da infecção pelo vírus da Hepatite C e coinfecções com os vírus B e Delta no Estado do Acre, Amazônia ocidental brasileira
... High prevalence of dual or triple infection of hepatitis B, C, and delta viruses among patients with chronic liver disease in Mongolia... High prevalence of hepatitis B, C and delta viru[r] ...
Frequency of Fanconi anemia in Brazil and efficacy of screening for the FANCA 3788-3790del mutation
... study of the mutations found in 245 patients originating from 24 different coun- tries showed that FA-G patients had more severe cytopenia and a higher incidence of ...prevalent in FA-C ...
Rev. bras. epidemiol. vol.14 número4
... the high prevalence of inadequate work ability, a significant number of professionals had high levels of fatigue ...accidents and diseases in several work sectors, ...
A diarrheal disease surveillance system in Cali, Colombia : Theoretical basis and methods
... 2) Outbreak investigation findings. 3) Large incidence or prevalence surveys of endemic disease in defined population. 4) Laboratory surveillance of environ- mental s[r] ...
Dement. neuropsychol. vol.8 número4
... hundred and twenty high school students were trained, twice a week, for three ...tion of the training, 88 pupils were able to administer the survey questionnaire to individuals over 60 in the ...
J. bras. psiquiatr. vol.64 número3
... evaluate, in a community sample of adolescents, the presence of comorbidi- ties in different anxiety ...composed of 2,457 adolescents, aged between 10-17 years old, from public ...
Host genes related to paneth cells and xenobiotic metabolism are associated with shifts in human ileum-associated microbial composition.
... defensins and members of the regenerating gene (REG) ...Manipulation of alpha defensin expression in experimental animals has been shown to alter gut microbial composition ...monoassociation ...
Arq. NeuroPsiquiatr. vol.59 número3B
... Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia and presents great phenotypic ...presenting with spastic paraparesis was recently described in ...