Publications by authors named "Cosimo Allegra"
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey.
Eur J Pediatr
December 2024
Article Synopsis
- The study aimed to assess the prevalence, age distribution, and functional status of Duchenne muscular dystrophy (DMD) in Italy, highlighting improvements in care recommendations.
- The survey involved data collection from 31 reference centers across the country, identifying key demographic and functional factors among 972 diagnosed individuals aged 6 months to 48 years.
- Results showed a prevalence of 1.65/100,000 people, with 43% ambulant and 57% non-ambulant, and most patients did not require significant respiratory or nutritional support.
Article Synopsis
- Becker muscular dystrophy (BMD) is an X-linked neuromuscular disorder caused by mutations in the DMD gene, impacting dystrophin production in muscle tissues, which is important for patient care and treatment development.
- A study of 943 BMD patients revealed the median age at diagnosis was 7.5 years, with significant findings including that about 13.5% lost mobility by an estimated age of 69, while 30% experienced cardiac issues.
- Different types of DMD mutations correlated with variations in disease progression, particularly affecting loss of ambulation and heart functionality, highlighting the importance of precise genetic characterization for managing BMD.
Article Synopsis
- Paraneoplastic neurological syndromes (PNSs) are linked to cancer and involve the presence of specific antibodies that target neuron components, affecting the central nervous system (CNS).
- This study analyzed 26 cases of probable CNS-PNS over seven years, highlighting the varied clinical presentations and the importance of identifying the condition early for better treatment outcomes.
- The findings reinforce the need for routine screening for hidden cancers in patients showing CNS symptoms and suggest that initiating treatment promptly can help improve results, even in later diagnoses.
Background: Pain is often experienced by patients with functional dystonia and idiopathic cervical dystonia and is likely to be determined by different neural mechanisms.
Objective: In this exploratory study, we tested the sensory-discriminative and cognitive-emotional component of pain in patients with functional and idiopathic dystonia.
Methods: Ten patients with idiopathic cervical dystonia, 12 patients with functional dystonia, and 16 age- and sex-matched healthy controls underwent psychophysical testing of tactile and pain thresholds and pain tolerance.