92 research outputs found
Blackberry (Rubus spp.): influence of ripening and processing on levels of phenolic compounds and antioxidant activity of the 'Brazos' and 'Tupy' varieties grown in Brazil
Ultrassonografia Doppler na avaliação renal de cadelas diagnosticadas com piometra antes e após tratamento com ovariosalpingohisterectomia
Avaliação da albuminúria e da eletroforese de proteínas urinárias de cães com hiperadrenocorticismo e a relação com a pressão arterial sistêmica
Hematologic, serum biochemistry and urinary values for captive Crab-eating Fox (Cerdocyon thous) in São Paulo state, Brazil
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting. Methods: Clinicians entered clinical data in an extensive web-based survey. Results: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified. Conclusion: There are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features
Epithelial mesenchymal transition in the progression of renal disease in dogs
Chronic kidney disease (CKD) in dogs is the
final common pathway resulting from persistent renal
injury and is characterized by progressive
tubulointerstitial damage (TID). Pathogenesis of CKD is
divided into an initial inflammatory phase with a
predominantly mononuclear infiltrate followed by a
fibrotic phase with increased numbers of fibroblasts and
extracellular matrix deposition that causes a progressive
reduction of functional parenchyma.
Proteinuria is a common manifestation of renal
diseases in dogs, and its role in the pathogenesis of CKD
is still uncertain. Nevertheless, the degree of proteinuria
in dogs correlates with TID progression. Increased
protein filtration may have direct effects on tubular
epithelial cells (TECs) that induce them to express the
major histocompatibility complex type II, and thereby
contribute to lymphocyte recruitment. Thus, an active
pro-inflammatory role is proposed for TECs in TID
progression. Moreover TECs are believed to actively
participate in the mechanisms of renal fibrosis.
Epithelial-Mesenchymal-Transition (EMT) of TECs in
canine TID has been studied in the last decade. Downregulation of adhesion molecules and loss of epithelial
markers in TECs directly correlate with the severity of
TID and with de novo expression of mesenchymal
markers. Tubular basement membrane (TBM) disruption
is an early EMT event. Increased activity of Matrix
Metalloproteinase-2 and its co-localization with TBM
splitting suggests an active role for the enzyme in
inducing EMT.
Processes occurring in canine CKD share many
similarities with its human counterpart, making the dog a
good model in which to examine the mechanisms of TID
progression
- …