Executive functions in intellectual disabilities: A comparison between Williams syndrome and Down syndrome

Executive functions are a set of high cognitive abilities that control and regulate other functions and behaviors and are crucial for successful adaptation. Deficits in executive functions are frequently described in developmental disorders, which are characterized by disadaptive behavior. However, executive functions are not widely examined in individuals with intellectual disability. The present study is aimed at evaluating the etiological specificity hypotheses pertaining to executive functions by comparing individuals with intellectual disability of different etiology, as Williams syndrome and Down syndrome, on different aspects of executive functions. To this aim a battery evaluating attention, short-term and working memory, planning, categorization, shifting and inhibition, was administered to 15 children, adolescents and adults with Williams syndrome, to 15 children, adolescents and adults with Down syndrome and to 16 mental-age-matched typically developing children. The two groups with intellectual disability showed impairment in a set of executive functions, as auditory sustained attention, visual selective attention, visual categorization and working memory, and preserved visual sustained attention, auditory selective attention and visual inhibition. However, a distinctive profile has been found between the two syndromic groups on other executive functions. While participants with Down syndrome were poor in shifting and verbal aspects of memory and inhibition, those with Williams syndrome were poor in planning. The specific weakness and straights on executive functions may support the etiological specificity hypothesis accounting for distinctive cognitive development syndrome-specific.     

Predicting financial deficits from a standard neuropsychological assessment: preliminary evidence in mild cognitive impairment

Neurological Sciences - Patients with mild cognitive impairment (MCI) might experience difficulties in numerical and financial abilities of daily living that compromise their autonomy. The aim of...     

Laparoscopic ICG-guided RALPPS procedure for HCC on cirrhosis with 3D reconstruction implementation: a case report

We present a fully laparoscopic partial RALPPS (radiofrequency-assisted liver partition with portal vein ligation for staged hepatectomy) on a cirrhotic 71-year...     

TAS1R3 and TAS2R38 Polymorphisms Affect Sweet Taste Perception: An Observational Study on Healthy and Obese Subjects

Background: The inter-individual differences in taste perception find a possible rationale in genetic variations. We verified whether the presence of four different single nucleotide polymorphisms (SNPs) in genes encoding for bitter (TAS2R38; 145G > C; 785T > C) and sweet (TAS1R3; −1572C > T; −1266C > T) taste receptors influenced the recognition of the basic tastes. Furthermore, we tested if the allelic distribution of such SNPs varied according to BMI and whether the associations between SNPs and taste recognition were influenced by the presence of overweight/obesity. Methods: DNA of 85 overweight/obese patients and 57 normal weight volunteers was used to investigate the SNPs. For the taste test, filter paper strips were applied. Each of the basic tastes (sweet, sour, salty, bitter) plus pure rapeseed oil, and water were tested. Results: Individuals carrying the AV/AV diplotype of the TAS2R38 gene (A49P G/G and V262 T/T) were less sensitive to sweet taste recognition. These alterations remained significant after adjustment for gender and BMI. Moreover, a significant decrease in overall taste recognition associated with BMI and age was found. There was no significant difference in allelic distribution for the investigated polymorphisms between normal and overweight/obese patients. Conclusions: Our findings suggest that overall taste recognition depends on age and BMI. In the total population, the inter-individual ability to identify the sweet taste at different concentrations was related to the presence of at least one genetic variant for the bitter receptor gene but not to the BMI.     

Preliminary Study of the Mural Paintings of Sotterra Church in Paola (Cosenza,Italy)

A multi-analytical approach was employed to study wall paintings located in the Sotterra church at Paola, in the province of Cosenza, Italy. The site is an underground church (hence the name of Sotterra, which means “under the earth”) rediscovered in the second half of the 19th century, during the building works of the Madonna del Carmine church on the same area. This underground church preserves valuable mural paintings having different styles. The construction’s dating and overlapped modifications made until the site was abandoned is also debated. A wall painting, depicting “The Virgin” as part of the “Annunciation and the Archangel Gabriel” present on the opposite side of the apse, was selected and investigated using both in situ and laboratory-based analysis. Preliminarily, the non-destructive investigations involved several analytical techniques (IR imaging, UV-Induced Visible Fluorescence, and X-ray Fluorescence analyses) that provided mapping and characterization of pictorial layers and first data about deterioration phenomena. On the basis of this information, a more in-depth study was conducted on micro-fragments aimed at characterizing the stratigraphy and to identify the artist’s technique. Cross-sections were analysed using polarized optical microscopy and electron scanning microscopy coupled with energy-dispersive X-ray spectroscopy to obtain morphological and chemical information on the selected pictorial micro-fragments of the wall painting. The results allowed to characterize the pigments and provide better readability of the whole figure, revealing details that are not visible to the naked eye, important for future historical-artistic and conservative studies. The results represent the first step of a systematic archaeometric research aimed at supporting the ongoing historical-stylistic studies to distinguish the different building phases hypothesized for this religious site which remained buried for three centuries.     

Coexistence of primary central nervous system lymphoma and primary breast lymphoma: Clinical presentation,imaging features,and treatment management

The presence of synchronous dual hematological diseases is an uncommon finding. We report an unusual case of coexistence of primary central nervous system lymphoma and primary breast lymphoma without systemic involvement in an immunocompetent patient. To our knowledge a similar case has not yet been reported in the literature. We especially focus on presenting the imaging features, the associated clinical findings and treatment management of each entity, with the aim of raising awareness on these two rare types of lymphomas and the possibility of their coexistence.     

Selective targeted delivery of TNFalpha to tumor blood vessels

We sought to enhance the selective toxicity of tumor necrosis factor alpha (TNFalpha) to permit its systemic use in cancer therapy. Because ligand-targeted therapeutics have proven successful in improving the selective toxicity of drugs, we prepared a fusion protein (L19mTNFalpha) composed of mouse TNFalpha and a high-affinity antibody fragment (L19 scFv) to the extradomain B (ED-B) domain of fibronectin, a marker of angiogenesis. L19mTNFalpha was expressed in mammalian cells, purified, and characterized. L19mTNFalpha was an immunoreactive and biologically active homotrimer. Radiolabeled L19mTNFalpha selectively targeted tumor neovasculature in tumor-bearing mice, where it accumulated selectively and persistently (tumor-to-blood ratio of the percentage of injected dose per gram [%ID/g] of 700, 48 hours from injection). L19mTNFalpha showed a greater anticancer therapeutic activity than both mTNFalpha and TN11mTNFalpha, a control fusion protein in which an antibody fragment, irrelevant in the tumor model used, substituted for L19. This activity was further dramatically enhanced by its combination with melphalan or the recently reported fusion protein L19-IL2. In conclusion, L19mTNFalpha allows concentrating therapeutically active doses of TNFalpha at the tumor level, thus opening new possibilities for the systemic use of TNFalpha in cancer therapy.     

Atti SUN -Laparoscopic management of sacral neurinoma causing hydronephrosis

We report the case of a sacral neurinoma, which presented with mild hydronephrosis, due to compression of the right ureter, in a 71-yr old woman admitted to our hospital with recurrent urinary tract infections. CT and MRI detected a 4 x 4 cm mass pressing on the right ureter at the sacral level, in continuity with the second sacral foramen. Given this finding, the mass was thought to be of presumable neurogenic origin. In order to both reach a conclusive diagnosis and relieve the compression of the ureter, a laparoscopic resection of the mass was performed. Surgery was successful and the pathologic examination revealed a sacral Antoni A neurinoma. Neurinomas, also called Schwannomas, are uncommon benign nerve sheath tumors arising from Schwann cells. Their diagnosis can be extremely difficult due to their aspecific symptoms and the lack of pathognomonic characteristics on imaging exams. Therefore, histopathologic evaluation is essential in establishing the diagnosis. Surgical resection seems to be the best approach, both for diagnostic and therapeutic purposes.