Umbilical intra-abdominal vein varix: a case report and review of the literature.

Fetal umbilical intra-abdominal vein varix (FIUV) is a rare congenital malformation characterized by focal dilatation of the umbilical vein. The authors report a case of pregnant woman at 32 weeks of gestation with a fetus affected by dilatation of an intra-abdominal portion of the umbilical vein. They performed continuous ultrasound and cardiotocographic monitoring, from admission to the delivery. They describe the case and perform a review of the literature.

Holt Oram syndrome: a case report and review of the literature.

Holt Oram syndrome is a rare autosomal dominant syndrome on average, of varying severity, which may result in heterogeneous pictures, predominantly with involvement of the bony segments of the upper limbs and the cardiovascular system. The syndrome is caused by mutations in two genes of the T-box (TBX5, 601 620 and TBX 3) located on the 12q24.1p. The authors report a case and review the literature.

Hysterosalpingography in infertility investigation protocol: is it still useful?

PURPOSE OF INVESTIGATION: to assess the radiological findings of women undergoing hysterosalpingography (HSG) as initial infertility investigation protocol. MATERIALS AND METHODS: A retrospective study on infertile women who underwent HSG at Institute of Radiology of Sassari University, Italy. RESULTS: The present case series included 2,845 HSG, performed from January 1997 to March 2014. The age of the patients ranged from 20 to 48 years. The negative exams (tubal patency) were 2,039 out of 2,845 (71.67%). CONCLUSION: A technique of diagnostic imaging for the evaluation of infertility should be non-invasive, not expensive, rapid, of simple execution, and also be able to provide information on tubal patency and pelvic diseases. For these reasons, HSG today remains a useful diagnostic investigation tool in the diagnostic work-up of infertile patients.

Squamous cell carcinoma arising in mature cystic teratoma of the ovary: report of two cases with molecular analysis.

Mature cystic teratoma (MCT) is the most frequent ovarian tumor and it is generally composed of well-differentiated elements which, nevertheless, have the potential for malignant transformation. The authors report two cases of squamous cell carcinoma (SCC) arising on ovarian MCT. In the present study, no mutation of the CDKN2A gene, whose impairment may deeply affect either the p16(CDKN2A)-CyclinD1-pRb cascade or the p14(CDKN2A)-mdm2-p53 cascade, was observed in tumour tissues from our cases' collection. This suggests that changes in the protein levels for the above-described candidate effectors may be somehow due to epigenetic alterations into the mechanisms controlling their expression. Analogously, no genetic modification among the two main genes (EGFR and KRAS) upstream the MAPK signalling pathway, which has been widely reported to play a major role in both development and progression of vast majority of malignant tumours, was detected in this series. Additional genes and pathways should be therefore investigated in order to identify genomic impairments underlying the MCT malignant transformation.

Addisons's disease in pregnancy.

The Authors show a rare case of Addison's disease in pregnancy, in a 27 year old patient, under cortisonic therapy. They propose the current diagnostic therapeutic orientations relating to maternal foetal risks.

[Evaluation of the reliability of the Heremans serum protein index in the differential diagnosis of jaundice]. / Valutazione dell'attendibilità dell'indice sieroproteico di Heremans nella diagnosi differenziale degli itteri

Heremans' serum proteins index was evaluated in the diagnosis of 58 cases of icterus. Analysis of variance was employed in assessing the behaviour of the index in various forms of the disease. Its reliability was evaluated in the light of its sensitivity, specificity, suspicion, positivity, confirmation, validity and accuracy indices, information content and entropy. Multivariance analysis was also used to determine the mean and optimal values for the discriminating functions of neoplastic and non-neoplastic icterus forms.

Localization of beta-endorphins in the rat spinal cord using avidin-biotin technology.

The avidin-biotin-peroxidase technique is proposed for the immunological localization of beta-endorphin in the rat spinal cord. A rabbit specific antibody anti-human beta-endorphin was first obtained and then identified by immunoblotting and incubated with a quick-frozen section of young rat spinal cord. The use of a specific antibody with the immunoperoxidase reaction gave a morphological visualization of the beta-endorphin in the histological sections of the rat spinal cord.