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1.
Vet Med (Praha) ; 69(5): 137-155, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38841131

RESUMO

At present, the assessment of pig welfare quality has gained significant importance, prompting the exploration of novel biomarkers for this purpose. Traditionally, these biomarkers have been monitored in the blood; however, blood sampling is considered an invasive procedure. Currently, non-invasive methods for collecting samples are emerging as viable alternatives for assessing these biomarkers. This article aims to present the current knowledge regarding the use of non-invasive methods for analysing pig welfare biomarkers, specifically focusing on the saliva, hair, faeces, and urine as matrices to determine these biomarkers. The saliva analysis encompasses various biomarkers, such as cortisol, alpha-amylase, chromogranin A, the total esterase, oxytocin, acute phase proteins, adenosine deaminase, immunoglobulins and parameters of redox homeostasis. Cortisol, a specific biomarker, can be determined in the hair, urine and faeces, while urine samples allow for the analysis of catecholamines as non-invasive markers of pig welfare.

2.
Am J Med Genet A ; 117A(1): 1-5, 2003 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-12548732

RESUMO

DiGeorge anomaly/velocardiofacial syndrome (DG/VCFS) occurs with different deletion intervals on chromosomes 22q11, while the DiGeorge anomaly (with other findings) is seen in patients with deletions of 10p14. The clinical outcome with the common 22q11 deletion (90% of cases) is well known, but the outcome with the less frequent deletion types has not been well documented. Using cytogenetic and fluorescence in situ hybridization (FISH) analysis we studied a series of 295 patients with suspected DG/VCFS. We identified 58 subjects with a 22q11 deletion, and none with a 10p deletion. Fifty-two subjects had the common deletion, five had the proximal deletion, and one had an atypical proximal deletion due to a 1;22 translocation. We report clinical data of four subjects with the proximal 22q11 microdeletion, and of one patient with the atypical proximal deletion. The anomalies observed with the proximal 22q11 microdeletion fell within the DG/VCFS spectrum. Two females, 6 and 25 years old, had normal mental development. Normal development has been reported with the common 22q11 deletion, but only in a minority of cases. This study may indicate a better intellectual and/or behavioral outcome with the proximal vs. the common 22q11 deletion, rather than a chance finding.


Assuntos
Anormalidades Múltiplas/genética , Anormalidades Craniofaciais/patologia , Síndrome de DiGeorge/patologia , Cardiopatias Congênitas/patologia , Anormalidades Múltiplas/patologia , Criança , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 10/genética , Cromossomos Humanos Par 22/genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Masculino , Síndrome
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