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The ring 14 (r14) syndrome is a rare condition, whose precise clinical and genetic characterization is still lacking. We analyzed a total of 20 patients with r14 and another 9 patients with a linear 14q deletion. The ring was complete, with no apparent loss of chromosome material, in 6 cases; a terminal 14q deletion, varying in size from 0.65 to 5 Mb, was(More)
BACKGROUND The aim of this study was to compare the efficacy of radiofrequency ablation vs. cryoablation in the treatment of early breast cancer. PATIENTS AND METHODS 80 women (mean age 73 ± 5 years) with early breast cancer were retrospectively evaluated. 40 patients underwent cryoablation and 40 patients underwent radiofrequency ablation, both with(More)
We report imaging techniques in the definition of the therapeutic planning of a 65-year-old man with a diagnosis of Pancoast tumor. Computed Tomography has a pivotal role in the assessment of nodes involvement and distant metastasis. Magnetic Resonance allows a detailed study of locoregional extension for its high soft tissue resolution. We particularly(More)
PURPOSE To measure anti-cardiolipin (aCL), anti-beta2 glycoprotein I (anti-beta2GPI), and anti-prothrombin (aPT) antibodies in young patients with epilepsy, and to correlate their presence with demographic data, clinical diagnoses, laboratory and neuroradiologic findings, and antiepileptic drugs (AEDs). METHODS Sera from one hundred forty-two consecutive(More)
Epilepsy is the most common and serious neurological symptom in ring chromosome 14 syndrome, also characterised by mild dysmorphisms, acquired microcephaly, cognitive impairment, hypotonia and ocular abnormalities. Typically, early-onset, polymorphous and drug-resistant seizures are reported. Status epilepticus has not been previously reported. We describe(More)
PURPOSE To characterize epileptic phenotype, electroencephalography (EEG) features, and epileptic evolution in patients with ring 14 r(14) syndrome. METHODS Twenty-two patients with ring chromosome 14 were enrolled in the study. We examined age at onset, seizure semiology and frequency at onset and at follow-up, drug responsiveness/resistance, and(More)
Purpose. To evaluate the correlation between MRI and histopathological findings in patients with mammographically detected 3-5 BI-RAD (Breast Imaging Reporting And Data Systems) microcalcifications and to allow a better surgical planning. Materials and Method. 62 female Patients (age 50 ± 12) with screening detected 3-5 BI-RAD microcalcifications underwent(More)
A 3-year-old female infant with Charcot-Marie-Tooth disease type 1A had congenital pes cavus, normal motor development, and duplication of the peripheral myelin protein 22 gene, PMP22. Her father, carrying the same gene duplication, developed neuropathy, tremor, and auditory impairment beginning in early adulthood. This is a case of congenital pes cavus in(More)
Corpus luteum cyst rupture with consequent hemoperitoneum is a common disorder in women in their reproductive age. This condition should be promptly recognized and treated because a delayed diagnosis may significantly reduce women's fertility and intra-abdominal bleeding may be life-threatening. Many imaging modalities play a key role in the diagnosis of(More)
Thyroid ectopia can occur when the process of thyroid embryogenesis fails. Here, we present the case of a 30-year-old woman with thyroid ectopia that was discovered during magnetic resonance imaging of cervical spine for referred neck pain. Imaging revealed the presence of an encapsulated mass at the base of her tongue. The patient was not symptomatic for(More)