Publications by authors named "J T L Mazzucchelli"
Article Synopsis
- Ataxia-telangiectasia (AT) is a rare genetic disorder causing neurological issues, blood vessel irregularities, and a weakened immune system, particularly noted in Latin American patients.
- A study involving 218 patients revealed that the average age for symptoms and diagnosis is about 1 year and 5 years, respectively, with common recurrent airway infections linked to IgA deficiency.
- The study found a mean survival of 24.2 years, with a 20-year survival rate of 52.6%, and higher mortality rates in females and those with low IgG levels, highlighting the importance of assessing immune function in AT patients.
Aim: To appraise the literature evaluating psychometric properties and clinical utility of cognitive assessments available for use by occupational therapists in acute and subacute hospital contexts with children aged 4-18 years diagnosed with an acquired brain injury.
Methods: Scoping review. Assessments and associated studies were evaluated for their methodologic quality using the COnsensus-based standard for the Selection of health Measurement INstruments (COSMIN) strategy.
Objective: To validate the quantification of T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs) by real-time polymerase chain reaction (qRT-PCR) for newborn screening of primary immunodeficiencies with defects in T and/or B cells in Brazil.
Methods: Blood samples from newborns and controls were collected on filter paper. DNA was extracted and TRECs, and KRECs were quantified by a duplex real-time PCR.