3 research outputs found
Emotion and alexithymia in eating disorders: indications to promote a change in the family-social system.
No full textOrbital cellulitis and massive chemosis as first sign of a cilio-choroidal malignant melanoma without extraocular extension: A case report
No full textPurpose: To describe a case of cilio-choroidal melanoma presenting as aseptic orbital cellulitis with massive conjunctival chemosis. Methods: Case report. Results: A 51-year-old man with a left retro-iris pigmented lesion had acute lid edema, conjunctival chemosis, and extensive hyphema. Ultrasound revealed a large, lobulated, wide-base choroidal-starting lesion affecting the ciliary bodies and vitreous chamber. MRI revealed low-intermediate T2-signal and intermediate-high T1-signal, with substantial post-contrastographic enhancement. After one week of systemic corticosteroids, the chemosis reduced significantly, and the patient was referred for enucleation, even without histologic confirmation. Post-surgical histopathology found 90% necrotic tissue, few viable cells, and no scleral or vascular invasion, with genetic analysis showing monosomy of chromosome 3 and 8q gain. Conclusion: Choroidal melanoma, particularly if necrotic, may occasionally present as aseptic orbital cellulitis, even without extraocular spread
Age and sex prevalence estimate of Joubert syndrome in Italy.
No full textObjective: To estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology and to provide a molecular characterization of the described patient cohort.
Methods: We enrolled all patients with a neuroradiologically confirmed diagnosis of JS who resided in Italy in 2018 and calculated age and sex prevalence, assuming a Poisson distribution. We also investigated the correlation between proband chronological age and age at diagnosis and performed next-generation sequencing (NGS) analysis on probands' DNA when available.
Results: We identified 284 patients with JS: the overall, female- and male-specific population-based prevalence rates were 0.47 (95% confidence interval [CI] 0.41-0.53), 0.41 (95% CI 0.32-0.49), and 0.53 (95% CI 0.45-0.61) per 100,000 population, respectively. When we considered only patients in the age range from 0 to 19 years, the corresponding population-based prevalence rates rose to 1.7 (95% CI 1.49-1.97), 1.62 (95% CI 1.31-1.99), and 1.80 (95% CI 1.49-2.18) per 100,000 population. NGS analysis allowed identifying the genetic cause in 131 of 219 screened probands. Age at diagnosis was available for 223 probands, with a mean of 6.67 ± 8.10 years, and showed a statistically significant linear relationship with chronological age (r 2 = 0.79; p < 0.001).
Conclusions: We estimated for the first time the age and sex prevalence of JS in Italy and investigated the patients' genetic profile. The obtained population-based prevalence rate was ≈10 times higher than that available in literature for children population
