11 documents found, page 1 of 2

Allogenic synovia-derived mesenchymal stem cells for treatment of equine tendin...

Tendon and ligament injuries are frequent in sport horses and humans, and such injuries represent a significant therapeutic challenge. Tissue regeneration and function recovery are the paramount goals of tendon and ligament lesion management. Nowadays, several regenerative treatments are being developed, based on the use of stem cell and stem cell-based therapies. In the present study, the preparation of equine...

Can the Synergic Contribution of Multigenic Variants Explain the Clinical and C...

We describe an infant female with a syndromic neurodevelopmental clinical phenotype and increased chromosome instability as cellular phenotype. Genotype characterization revealed heterozygous variants in genes directly or indirectly linked to DNA repair: a de novo X-linked HDAC8 pathogenic variant, a paternally inherited FANCG pathogenic variant and a maternally inherited BRCA2 variant of uncertain significance...

Rat olfactory mucosa mesenchymal stem/stromal cells (om-mscs): a characterizati...

Stem/stromal cell-based therapies are a branch of regenerative medicine and stand as an attractive option to promote the repair of damaged or dysfunctional tissues and organs. Olfactory mucosa mesenchymal stem/stromal cells have been regarded as a promising tool in regenerative therapies because of their several favorable properties such as multipotency, high proliferation rate, helpful location, and few associ...

Chromosome Instability in Asthma an Antioxidant Treatment as a Possible Pharmac...

Asthma is a disease with multiple phenotypes and different degrees of severity. Severe inflammation appears when oxidative stress (OS) overwhelms the antioxidant defense. Knowing the role of OS in the increase of chromosome instability (CI) and, consequently, in cancer predisposition, it is important to carry out studies to establish limits for OS harmful effects. The aim of this study was to evaluate OS-relate...

Increased red cell distribution width in Fanconi anemia: a novel marker of stre...

Increased levels of chromosomal aberrations and DNA damage in a group of worker...

Formaldehyde (FA) is a commonly used chemical in anatomy and pathology laboratories as a tissue preservative and fixative. Because of its sensitising properties, irritating effects and cancer implication, FA accounts probably for the most important chemical-exposure hazard concerning this professional group. Evidence for genotoxic effects and carcinogenic properties in humans is insufficient and conflicting, pa...

Anemia de Fanconfi — Variabilidade Fenotípica da Doença em Bulas Irmãs

Os autores apresentam o caso de uma jovem de 15 anos de idade, sexo feminino, com antecedentes de infecções do tracto urinário de repetição e com malformações congénitas esqueléticas e hipoplasia renal direita, orientada para estudo de bicitopenia (leucopenia e trombocitopenia ligeiras). Apresentava macrocitose e hemoglobina fetal aumentada. A cultura de linfócitos com diepoxibutano revelou instabilidade cromos...

Síndrome Mielodisplásico (Caso Clínico)

Os autores descrevem o caso de uma criança em que o diagnóstico de Síndrome Mielodisplásico foi efectuado aos 3 anos e 8 meses de vida. O quadrohematológico da apresentação obedece aos critérios de Anemia Refractária com excesso de blastos (classificação FAB). O cariotipo medular mostrou doiscritérios indicativos de mau prognóstico (monossomia 7 e complexidade de alterações), o qual foi confirmado pela evolução...

Estudo do potencial genotóxico do formaldeído em contexto profissional: Projeto...

Fanconi anemia: cytogenetic diagnosis of 40 cases.

Fanconi Anemia (FA) is a rare recessive disorder clinically characterized by progressive bone marrow failure, diverse congenital malformations and increased predisposition to cancer. Given the late onset of anemia, relatively to other cytopenias, and the high variability in the phenotype, a correct clinical diagnosis is difficult, and may be delayed or even missed. This fact may be prejudicial to patients, due ...