195 research outputs found
Congenital Disorders of Glycosylation in PortugalâTwo Decades of Experience
Objective: To describe the clinical, biochemical, and genetic features of both new and previously reported patients with congenital disorders of glycosylation (CDGs) diagnosed in Portugal over the last 20 years.
Study design: The cohort includes patients with an unexplained multisystem or single organ involvement, with or without psychomotor disability. Serum sialotransferrin isoforms and, whenever necessary, apolipoprotein CIII isoforms and glycan structures were analyzed. Additional studies included measurement of phosphomannomutase (PMM) activity and analysis of lipid-linked oligosaccharides in fibroblasts. Sanger sequencing and massive parallel sequencing were used to identify causal variants or the affected gene, respectively.
Results: Sixty-three individuals were diagnosed covering 14 distinct CDGs; 43 patients diagnosed postnatally revealed a type 1, 14 a type 2, and 2 a normal pattern on serum transferrin isoelectrofocusing. The latter patients were identified by whole exome sequencing. Nine of them presented also a hypoglycosylation pattern on apolipoprotein CIII isoelectrofocusing, pointing to an associated O-glycosylation defect. Most of the patients (62%) are PMM2-CDG and the remaining carry pathogenic variants in ALG1, ATP6AP1, ATP6AP2, ATP6V0A2, CCDC115, COG1, COG4, DPAGT1, MAN1B1, SLC35A2, SRD5A3, RFT1, or PGM1.
Conclusions: Portuguese patients with CDGs are presented in this report, some of them showing unique clinical phenotypes. Among the 14 genes mutated in Portuguese individuals, 8 are shared with a previously reported Spanish cohort. However, regarding the mutational spectrum of PMM2-CDG, the most frequent CDG, a striking similarity between the 2 populations was found, as only 1 mutated allele found in the Portuguese group has not been reported in Spain.info:eu-repo/semantics/publishedVersio
Energy dependence of Cronin momentum in saturation model for and collisions
We calculate dependence of Cronin momentum for and
collisions in saturation model. We show that this dependence is consistent with
expectation from formula which was obtained using simple dimentional
consideration. This can be used to test validity of saturation model (and
distinguish among its variants) and measure dependence of saturation
momentum from experimental data.Comment: LaTeX2e, 12 pages, 8 figure
Aspectos da biologia reprodutiva de Bothrops jararaca em cativeiro (Serpentes, Viperidae)
Distribuição do sistema radicular de årvores de acåia-negra oriundas de mudas produzidas em diferentes recipientes
Measurement of Ï production in pp collisions at âs = 2.76 TeV
The production of Ï(1S), Ï(2S) and Ï(3S)
mesons decaying into the dimuon final state is studied with
the LHCb detector using a data sample corresponding to an
integrated luminosity of 3.3 pbâ1 collected in protonâproton
collisions at a centre-of-mass energy of âs = 2.76 TeV. The
differential production cross-sections times dimuon branching
fractions are measured as functions of the Ï transverse
momentum and rapidity, over the ranges pT < 15 GeV/c
and 2.0 < y < 4.5. The total cross-sections in this kinematic
region, assuming unpolarised production, are measured to be
Ï (pp â Ï(1S)X) Ă B
Ï(1S)âÎŒ+ÎŒâ
= 1.111 ± 0.043 ± 0.044 nb,
Ï (pp â Ï(2S)X) Ă B
Ï(2S)âÎŒ+ÎŒâ
= 0.264 ± 0.023 ± 0.011 nb,
Ï (pp â Ï(3S)X) Ă B
Ï(3S)âÎŒ+ÎŒâ
= 0.159 ± 0.020 ± 0.007 nb,
where the first uncertainty is statistical and the second systematic
InterferĂȘncia da metodologia nos resultados de bioensaios de seleção de fungos entomopatogĂȘnicos para o controle de insetos
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