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 detected in the remaining 14 cases. Deleted ring chromosomes were 70% paternal and 30% maternal. UPD (14) was never detected. With respect to the linear 14q deletions, three were proximal, varying in size from 4 to 7.2 Mb, and six distal, varying in size from 4.8 to 20 Mb. The majority of the linear deletions were also of paternal origin, and UPD (14) was excluded in all cases. Clinically, the r14 syndrome was characterized by a recognizable phenotype, consisting of shortness of stature, a distinctive facial appearance, microcephaly, scoliosis, and ocular abnormalities, which included abnormal retinal pigmentation, strabismus, glaucoma, and abnormal macula. All patients except one had mental retardation. Drug-resistant epilepsy was another highly consistent finding. Aggressive and hyperactive behavior was noted in about half of the patients. Based on genotype-phenotype correlations, we could deduce that retinal abnormalities, epilepsy, microcephaly, and mental retardation map within the proximal 14q11.2-q12 region. Likewise, behavior disorders and scoliosis could be assigned to the 14q32 region.

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 sentinel lymph node excision. Tumor volume and histopatological data were compared by means of postprocedural 3.0-T magnetic resonance imaging (MRI). 30-45 days after the percutaneous ablation, all patients underwent surgical resection of the tumor. The mean follow-up was 18 months without any local recurrences. Results: Both techniques allow good correlation with histopathological data. In 75 patients (93.8%) we observed complete necrosis; in 5 cases there was residual disease in the postprocedural MRI and postoperative histological examination. There was a good correlation between MRI volume and histologic samples. Cosmetic results were good in all patients but 2. Conclusion: Both percutaneous radiofrequency ablation and cryotherapy are minimally invasive techniques with a good clinical and cosmetic outcome in selected cases. MRI examination is an ideal method to assess breast neoplasms in terms of quality and quantity as well as residual tumor extent after percutaneous ablation. Cryotherapy is the preferred method because of the analgesic effect of freezing with better patients compliance.

Summary:Purpose: To measure anti-cardiolipin (aCL), anti-␤ 2 glycoprotein I (anti-␤2GPI), 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 patients with epilepsy with a median age of 10 years were tested for aCL and anti-␤2GPI autoantibodies by solid-phase assays. aPT antibodies also were assayed in sera from 90 patients. Positive results were confirmed after a minimum of 6 weeks. Antinuclear antibodies (ANAs) and antibodies against extractable nuclear antigens (ENAs) also were tested.Results: An overall positivity of 41 (28.8%) of 142 sera was found. Fifteen patients were positive for aCL, 25 for anti-␤2GPI, and 18 for aPT antibodies. Several patients (12%) displayed more than one specificity in their serum. Only one of these patients had a concurrent positivity for ANAs and ENAs. A predominance of younger patients was found in the antibodypositive group. All types of epilepsy were represented in the positive group. No relation between antibody positivity and AEDs was found. Diffuse ischemic lesions at computed tomography (CT)/magnetic resonance imaging (MRI) scans were present in higher percentages in patients who were antibody positive. No positive patient had a history of previous thrombosis or other features related to systemic lupus erythematosus (SLE), and no patient was born of a mother with SLE.Conclusions: Our study suggests a relation between epilepsy and aPL in young patients. A pathogenetic role for these autoantibodies cannot be excluded, and their determination might prove useful even from a therapeutic point of view.

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 acute pelvic pain from gynecological causes. Ultrasound study (USS) is usually the first imaging technique for initial evaluation. USS is used to confirm or to exclude the presence of intraperitoneal fluid but it has some limitations in the identification of the bleeding source. Contrast-enhanced computed tomography (CT) is the imaging modality which could be used in the acute setting in order to recognize gynecological emergencies and to establish a correct management. Magnetic resonance imaging (MRI) nowadays is the most useful technique for studying the pelvis but its low availability and the long acquisition time of the images limit its usefulness in characterization of acute gynecological complications. We report a case of a young patient with hemoperitoneum from hemorrhagic corpus luteum correctly identified by transabdominal USS and contrast-enhanced CT.

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 dynamic 3 T contrast-enhanced breast MRI. After 30-day (range 24–36 days) period, 55 Patients underwent biopsy using stereotactic vacuum-assisted biopsy (VAB), 5 Patients underwent stereotactic mammographically guided biopsy, and 2 Patients underwent MRI-guided VAB. Results. Microhistology examination demonstrated 36 malignant lesions and 26 benign lesions. The analysis of MRI findings identified 8 cases of MRI BI-RADS 5, 23 cases of MRI BI-RADS 4, 11 cases of MRI BI-RADS 3, 4 cases type A and 7 cases type B, and 20 cases of MRI BI-RADS 1-2. MRI sensitivity, specificity, positive predictive value, and negative predictive value were 88.8%, 76.9%, 84.2%, and 83.3%, respectively.