Publications by authors named "F Macucci"
Article Synopsis
- The study involved five family members across three generations, including a 35-year-old woman and her two mentally impaired sons.
- The research focused on postaxial polydactyly, which appears to be inherited in an autosomal dominant manner, and presents with notable variations in phenotypic features like syndactyly and mental delays.
- The findings suggest that the observed conditions may relate to a contiguous gene syndrome rather than a single gene mutation, although further proof is needed.
Asthma and allergy in young athletes in Siena Province. Preliminary results.
J Sports Med Phys Fitness
September 2007
Aim: The aim of the study was to assess the prevalence of asthma and related respiratory symptoms in a sample of the Siena pediatric population that engages in sport.
Methods: The subjects were 460 young athletes, age 7-14 years, enrolled in 23 sporting clubs in 10 municipalities of Siena Province. Subjects and their parents answered a questionnaire on life style and the children underwent basal spirometric tests at their respective training centers.
To investigate the clinical picture, the neurophysiological pattern, and neuropathological features of a young woman with severe drug-resistant epilepsy of unknown cause. We used the patient's clinical records from the age of 2 to 20years including neurophysiological patterns recorded via both scalp and cortex electrodes and results of studies conducted on the brain neuropathological specimen. The patient, with severe mental/psychomotor retardation, suffered from severe epilepsy from an early age, characterized by daily seizures of multiple types (atypical absences, tonic, and complex partial seizures), high frequency, and intractability.
View Article and Find Full Text PDFWe report a 6-year-old girl with a subtle form of hypohidrotic ectodermal dysplasia and a phenotype consisting of curly hair, a round face, a stocky build, and obesity, which was associated with intrathoracic neuroblastoma. Although this new association could be a chance occurrence, its description may alert physicians to look for similar combinations and report these, as it may lead to better syndrome delineation, and patient care.
View Article and Find Full Text PDFAim: The aim of the study was to evaluate and compare methods of weaning suggested by pediatricians in two Italian regions with different geographical and cultural characteristics, Tuscany and Apulia.
Methods: Questionnaires were sent to 30 pediatricians, 15 in Tuscany and 15 in Apulia. Questions regarded prevalence and duration of breastfeeding, timing and manner of introducing other foods, and use of commercial baby food or food prepared at home.