Casa Sollievo della Sofferenza

About: Casa Sollievo della Sofferenza is a healthcare organization based out in San Giovanni Rotondo, Italy. It is known for research contribution in the topics: Population & Cancer. The organization has 2234 authors who have published 6183 publications receiving 239811 citations. The organization is also known as: Home for Relief of the Suffering.

Transthoracic ultrasound in the assessment of pleural and pulmonary diseases: use and limitations

Abstract: Interest in transthoracic ultrasound (US) procedures increased after the availability of portable US equipment suitable for use at the patient’s bedside. It is possible to detect space-occupying lesions of the pleura, pleural effusion, focal or diffuse pleural thickening and subpleural lesions of the lung, even in emergency settings. Transthoracic US is useful as a guidance system for thoracentesis and peripheral lesion biopsy, where it minimises the occurrence of pneumothorax and haemorrhage. Transthoracic US imaging is strongly influenced by physical interaction of the ultrasonic beam at the tissue/air interface, which gives rise to reverberations classified as simple (A-line), “comet tail” and “ring down”(B-line) artifacts. Although these artifacts can be suggestive of a disease condition, they are essentially imaging errors present even in normal subjects and in empty-pleura post-pneumonectomy patients. In order to clarify some confusion and to report on the state of the art, we present a review of the literature on transthoracic US in diseases of the pleura and peripheral lung regions and our own clinical experience over 3 decades. The review focuses on quality assurance procedures and their value in diagnostic imaging and patient monitoring and warns against possible inappropriate indications and misleading information. Thoracic US is much more than “fishing for the moon in the well”.

The 13C-urea breath test as a predictor of intragastric bacterial load and severity of Helicobacter pylori gastritis

Abstract: Background: The urea breath test (UBT) has been proposed as the most accurate test for diagnosing Helicobacter pylori infection. The aim of this work was to evaluate the accuracy of the UBT and to compare the results with histologic and endoscopic findings in H. pylori infected patients. Methods: One-hundred-and-seventy-two consecutive dyspeptic outpatients were studied by means of endoscopy (with histology and culture), UBT (75 mg 13C-urea), and serology. Gastritis was classified in accordance with the Sydney criteria. In H. pylori positive patients, the bacterial load was assessed semiquantitatively, the number of bacteria in histologic specimens being counted. UBT results were expressed either as percentage cumulative dose of 13CO2 excreted at 1 h (CD60) or delta over baseline at 30' (DOB30). Results

Primary Hyperparathyroidism and the Presence of Kidney Stones Are Associated with Different Haplotypes of the Calcium-Sensing Receptor

Abstract: Introduction: Three single-nucleotide polymorphisms in the calcium-sensing receptor gene (CASR) encoding the missense substitutions A986S, R990G, and Q1011E have been associated with normal variation in extracellular calcium homeostasis, both individually and in haplotype combination. The aim of this study was to examine haplotype associations in primary hyperparathyroidism (PHPT). PatientsandMethods:PatientswithsporadicPHPT(n237)were recruited from endocrine clinics and healthy controls (n 433) from a blood donor clinic, and levels of serum calcium, albumin, and PTH were measured. In PHPT patients, urinary calcium/creatinine clearances and bone mineral density at spine and femoral neck were measured and the presence of kidney stones and vertebral fractures identified. The CASR single-nucleotide polymorphisms were haplotyped by allele-specific sequencing.

Genetic Association and Altered Gene Expression of Mir-155 in Multiple Sclerosis Patients

Abstract: Multiple sclerosis (MS) is a complex autoimmune disease of the central nervous system characterized by chronic inflammation, demyelination, and axonal damage. As microRNA (miRNA)-dependent alterations in gene expression in hematopoietic cells are critical for mounting an appropriate immune response, miRNA deregulation may result in defects in immune tolerance. In this frame, we sought to explore the possible involvement of miRNAs in MS pathogenesis by monitoring the differential expression of 22 immunity-related miRNAs in peripheral blood mononuclear cells of MS patients and healthy controls, by using a microbead-based technology. Three miRNAs resulted >2 folds up-regulated in MS vs controls, whereas none resulted down-regulated. Interestingly, the most up-regulated miRNA (mir-155; fold change = 3.30; P = 0.013) was previously reported to be up-regulated also in MS brain lesions. Mir-155 up-regulation was confirmed by qPCR experiments. The role of mir-155 in MS susceptibility was also investigated by genotyping four single nucleotide polymorphisms (SNPs) mapping in the mir-155 genomic region. A haplotype of three SNPs, corresponding to a 12-kb region encompassing the last exon of BIC (the B-cell Integration Cluster non-coding RNA, from which mir-155 is processed), resulted associated with the disease status (P = 0.035; OR = 1.36, 95% CI = 1.05–1.77), suggesting that this locus strongly deserves further investigations.

Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies

Abstract: Transcription factors operate in developmental processes to mediate inductive events and cell competence, and perturbation of their function or regulation can dramatically affect morphogenesis, organogenesis, and growth. We report that a narrow spectrum of amino-acid substitutions within the transactivation domain of the v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF), a leucine zipper-containing transcription factor of the AP1 superfamily, profoundly affect development. Seven different de novo missense mutations involving conserved residues of the four GSK3 phosphorylation motifs were identified in eight unrelated individuals. The distinctive clinical phenotype, for which we propose the eponym Ayme-Gripp syndrome, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth. Disease-causing mutations were demonstrated to impair proper MAF phosphorylation, ubiquitination and proteasomal degradation, perturbed gene expression in primary skin fibroblasts, and induced neurodevelopmental defects in an in vivo model. Our findings nosologically and clinically delineate a previously poorly understood recognizable multisystem disorder, provide evidence for MAF governing a wider range of developmental programs than previously appreciated, and describe a novel instance of protein dosage effect severely perturbing development.