A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum.

Oculo auriculo vertebral spectrum (OAVS; OMIM 164210) is a clinically and genetically heterogeneous disorder originating from an abnormal development of the first and second branchial arches. Main clinical characteristics include defects of the aural, oral, mandibular, and vertebral development. Anomalies of the cardiac, pulmonary, renal, skeletal, and central nervous systems have also been described. We report on a 25-year-old male showing a spectrum of clinical manifestations fitting the OAVS diagnosis: hemifacial microsomia, asymmetric mandibular hypoplasia, preauricular pits and tags, unilateral absence of the auditory meatus, dysgenesis of the inner ear and unilateral microphthalmia. A SNP-array analysis identified a de novo previously unreported microduplication spanning 723 Kb on chromosome 3q29. This rearrangement was proximal to the 3q29 microdeletion/microduplication syndrome region, and encompassed nine genes including ATP13A3 and XXYLT1, which are involved in the organogenesis and regulation of the Notch pathway, respectively. The present observation further expands the spectrum of genomic rearrangements associated to OAVS, underlying the value of array-based studies in patients manifesting OAVS features.

Adrenocortical carcinoma with inferior vena cava, left renal vein and right atrium tumor thrombus extension.

INTRODUCTION: Adrenocortical carcinoma (ACC) is a rare, but highly aggressive type of tumor with an annual incidence of 1-2 cases per million. The prognosis is poor with a five-year overall survival rate of ∼35%. The poor prognosis may be related to the advanced stage at which the majority of ACCs are detected. Complete surgical resection remains the most effective treatment. PRESENTATION OF THE CASE: A 51-year-old female patient with recent onset of dyspepsia, ascites and peripheral edema was referred to our institution. Computed tomography (CT) and Magnetic Resonance Imaging (MRI) displayed a 8cm Ø right adrenal mass. Moreover a tumor thrombus jutted out into the IVC, left renal vein and right atrium. An echocardiographic evaluation confirmed the presence of the tumor thrombus in the right atrium. The patient underwent adrenalectomy with removal of its intravascular extension with the assistance of cardiopulmonary bypass and hypothermia. DISCUSSION: ACC is a rare malignancy and ACC with tumor thrombus extension is a rare presentation. Patients can present with a variety of sign and symptoms, depending on the extent of the tumor. CT scan of chest and abdomen represents the gold standard in ACC staging while magnetic resonance imaging (MRI) is preferred for tumor thrombus characterization. Complete surgical resection with a negative margin, R0 resection, is the only curative option for localized disease. Kidney sparing surgery should be performed when possible. CONCLUSION: We present a rare case of Adrenocortical carcinoma with tumor thrombus extending into the IVC and right atrium. Complete resection with negative margins represents the best therapeutic chance for these patients.

Vitamin C and nutritional status of institutionalized and noninstitutionalized elderly women in Rome.

A cross-sectional study on 64 institutionalized and 65 noninstitutionalized elderly women has been undertaken. The age range was 60 through 90 years. Vitamin C status was assessed by serum ascorbic acid measurement and the nutritional status was evaluated by a three-day dietary record and main anthropometric measurements. Mean concentration of ascorbic acid was 1.03 mg/dl in the noninstitutionalized and 0.67 mg/dl in the institutionalized group (p less than 0.001). A serum ascorbic acid level less than 0.2 mg/dl was found in one (1.5%) and seven (10.9%) subjects respectively (p less than 0.03). Mean intake of vitamin C was 104.1 mg/d in the former and 87.3 mg/d in the latter group (p = NS), being less than 45 mg/d in 16 living at home and 11 institutionalized women. Serum ascorbic acid level did not correlate significantly to dietary nutrient intake but correlated to activity of daily living level (r = 0.29), vitamin C intake (r = 0.23), ideal body weight (r = -0.15), relative body weight (r = 0.15) and body mass index (r = 0.14). Suggestions are made concerning a higher intake of vitamin C and a more careful catering to improve the health status of the elderly people living in large institutions. The authors also suggest to include the serum ascorbic level determination in the assessment of the general health status of the elderly.