First trimester prenatal diagnosis of a severe tricuspid valve regurgitation and pulmonary valve atresia.

Early diagnosis of congenital heart defect (CHD) increased in the last two decades, following technological evolution. A recent meta-analysis (Yu, 2020), on diagnostic accuracy in ultrasound detection of major CHD in the first trimester of pregnancy, reported an overall sensitivity of 75%. Ultrasound imaging of this case refers to a tricuspid valve dysplasia with right atriomegaly and pulmonary valve atresia diagnosed in a 13-week gestational-age fetus with low risk for chromosomal abnormalities. To our knowledge, this is the first case describing such features in the first trimester. We believe the precocity and severity of onset make this a case of diagnostic interest.

TNF-alpha inhibitors in Systemic Lupus Erythematosus. A case report and a systematic literature review.

Joint involvement is a common manifestation of systemic lupus erythematosus (SLE) and is described as a non-erosive mild synovitis. However some SLE patients may present a more severe joint involvement requiring aggressive therapy. We describe the case of a SLE patient with a severe arthritis unresponsive to methotrexate, successfully treated with anti-TNF-alpha drug as induction therapy and we report the results of a systematic literature review on the use of TNF-alpha inhibitors in SLE.

Development of associational fiber tracts in fetal human brain: a cadaveric laboratory investigation.

The advent of diffusion tensor imaging (DTI) in addition to cadaveric brain dissection allowed a comprehensive description of an adult human brain. Nonetheless, the knowledge of the development of the internal architecture of the brain is mostly incomplete. Our study aimed to provide a description of the anatomical variations of the major associational bundles, among fetal and early post-natal periods. Seventeen formalin-fixed fetal human brains were enrolled for sulci analysis, and 13 specimens were dissected under the operating microscope, using Klingler's technique. Although fronto-temporal connections could be observed in all stages of development, a distinction between the uncinate fascicle, and the inferior fronto-occipital fascicle was clear starting from the early preterm period (25-35 post-conceptional week). Similarly, we were consistently able to isolate the periatrial white matter that forms the sagittal stratum (SS), with no clear distinction among SS layers. Arcuate fascicle and superior longitudinal fascicle were isolated only at the late stage of development without a reliable description of their entire course. The results of our study demonstrated that, although white matter is mostly unmyelinated among fetal human brains, cadaveric dissection can be performed with consistent results. Furthermore, the stepwise development of the associational fiber tracts strengthens the hypothesis that anatomy and function run in parallel, and higher is the cognitive functions subserved by an anatomical structure, later the development of the fascicle. Further histological-anatomical-DWI investigations are required to appraise and explore this topic.

Autophagy-related protein LC3 and Beclin-1 in the first trimester of pregnancy.

Autophagy is a degradation process that acts in response to environmental stressors. Recently, autophagy has been detected in normal term, preeclamptic and intrauterine growth-restricted placentas. The object of this work was to investigate the presence of autophagy in first trimester voluntary interruption of pregnancy placental villi by the expression of autophagy-related proteins, light chain 3 (LC3), and Beclin-1. In first trimester placental villi laser scanning confocal microscopy (LSCM) analysis revealed LC3 and Beclin-1 immunoreactivity prevalently located in villous cytotrophoblasts. Using LSCM, LC3, and Beclin-1 were localized to the cytoplasm of the trophoblast layer in human full-term placentas. Beclin-1 expression and LC3 activation were confirmed by western blotting. These data emphasize that autophagy activation is different among cytotrophoblasts and syncytiotrophoblasts depending on the gestational age and thus we speculate that autophagy might play a prosurvival role throughout human pregnancy.

Clear cell adenocarcinoma of the base of the tongue: a case report and review of the literature.

Clear cell adenocarcinoma is an extremely rare tumor of the head and neck region. We report a case of a 75-year-old Caucasian woman with a 10-day history of hemoptysis but with no pain or other significant symptoms. A head and neck computed tomography scan with contrast medium showed an irregular, soft-tissue-like, irregularly enhanced lesion of the base of the tongue extending to its posterolateral portion. The tumor reached the lateral wall of the oropharynx, which showed a nonhomogeneous aspect. The patient underwent resection of the tumor via a conservative transmandibular approach. A clear cell adenocarcinoma of the base of the tongue is rarely a primary malignant lesion; it is more frequently a secondary lesion from a metastatic renal tumor. Because of this neoplasm's relatively slow growth rate and low incidence of metastasis or local recurrence, the gold standard of treatment is complete excision of the tumor with a sufficient tumor-free margin.

CXC chemokine receptor 4 immunodetection in the follicular variant of papillary thyroid carcinoma: comparison to galectin-3 and hector battifora mesothelial cell-1.

BACKGROUND: The cytological discrimination between benign and malignant follicular-patterned lesions of the thyroid can represent a diagnostic challenge, even for experienced pathologists. We evaluated the diagnostic use of protein expression of CXC chemokine receptor 4 (CXCR4) and galectin-3 (gal-3) that were found to be upregulated in papillary thyroid carcinoma compared to normal thyroid and of mesothelial cell surface protein recognized by monoclonal antibody Hector Battifora Mesothelial cell (HBME)-1 in thyroid tumors. METHODS: Expression of CXCR4, HBME-1, and gal-3 was examined immunohistochemically in total of 100 aspirates of thyroid lesions, categorized as benign (n = 22), indeterminate lesion (n = 43), suspicious of papillary thyroid carcinoma (n = 10), or malignant (n = 25) by preoperative cytology. RESULTS: Expression of each individual marker was significantly associated with malignancy (p < 0.0001), although the sensitivity of detection ranged from 56% for gal-3 to 94% for HBME-1. When focusing on the indeterminate lesions, only CXCR4 and HBME-1 expression was associated with malignancy; moreover, these two markers either used individually or in combination showed good values of diagnostic accuracy (88.4% and 90.7%, respectively). Further, the combination of CXCR4 plus HBME-1 or the simultaneous use of all the three markers provided absolute value of sensitivity and negative predictive value in the same group of lesions. CONCLUSIONS: An immunohistochemical panel, including CXCR4, could be useful in the differential diagnosis between benign and malignant well-differentiated follicular-patterned thyroid lesions.