Sex influences clinical phenotype in valosin-containing protein mutations: A case family report and systematic literature review.

Objective: Mutations in the valosin-containing protein (VCP) gene cause autosomal dominant multisystem proteinopathy 1 (MSP1), characterized by a variable combination of inclusion body myopathy (IBM), Paget's disease of bone (PDB), and frontotemporal dementia (FTD). Here we report a novel VCP missense mutations in an Italian family with FTD as the prevalent manifestation and compare our results with those described in the literature.

Methods: We described the clinical, molecular, and imaging data of the studied family.

Epidemiology of amyotrophic lateral sclerosis in the north east Tuscany in the 2018-2021 period.

Background: The incidence of Amyotrophic Lateral Sclerosis (ALS) varies among different geographical areas and seems to increase over time. This study aimed to examine the epidemiologic data of ALS in the north-east Tuscany and compare the results with those of similar surveys.

Methods: Data from ALS cases diagnosed in Florence and Prato Hospitals were prospectively collected from 1st June 2018 to 31st May 2021.

Impaired Vagal Activity in Long-COVID-19 Patients.

Long-COVID-19 refers to the signs and symptoms that continue or develop after the “acute COVID-19” phase. These patients have an increased risk of multiorgan dysfunction, readmission, and mortality. In Long-COVID-19 patients, it is possible to detect a persistent increase in D-Dimer, NT-ProBNP, and autonomic nervous system dysfunction.

Radiological differences between chronic thromboembolic pulmonary disease (CTEPD) and chronic thromboembolic pulmonary hypertension (CTEPH).

Objectives: The aim of this study was to describe the radiological features of chronic thromboembolic pulmonary disease (CTEPD), not yet systematically described in the literature. Furthermore, we compared vascular scores between CTEPD and chronic thromboembolic pulmonary hypertension (CTEPH) patients, trying to explain why pulmonary hypertension does not develop at rest in CTEPD patients.

Methods: Eighty-five patients (40 CTEPD, 45 CTEPH) referred to our centre for pulmonary endarterectomy underwent dual-energy computed tomography pulmonary angiography (DE-CTPA) with iodine perfusion maps; other 6 CTEPD patients underwent single-source CTPA.

Endovascular Exclusion of Aortobronchial Fistula and Distal Anastomotic Aneurysm after Extra-Anatomic Bypass for Aortic Coarctation.

The treatment of choice for aortic coarctation in adults remains open surgical repair. Aortobronchial fistula is a rare but potentially fatal late sequela of surgical correction of isthmic aortic coarctation via the interposition of a graft. The endovascular treatment of aortobronchial fistula is still under discussion because of its high risk for infection, especially if the patient has a history of cardiovascular prosthetic implantation.

Patient dose during carotid artery stenting with embolic-protection devices: evaluation with radiochromic films and related diagnostic reference levels according to factors influencing the procedure.

Purpose: To measure the maximum entrance skin dose (MESD) on patients undergoing carotid artery stenting (CAS) using embolic-protection devices, to analyze the dependence of dose and exposure parameters on anatomical, clinical, and technical factors affecting the procedure complexity, to obtain some local diagnostic reference levels (DRLs), and to evaluate whether overcoming DRLs is related to procedure complexity.

Materials And Methods: MESD were evaluated with radiochromic films in 31 patients (mean age 72 ± 7 years). Five of 33 (15 %) procedures used proximal EPD, and 28 of 33 (85 %) procedures used distal EPD.

Th17 cells in multiple sclerosis express higher levels of JAK2, which increases their surface expression of IFN-γR2.

IFN-β inhibits the expansion of Th17 cells in active multiple sclerosis (AMS), and this might contribute to improve the clinical symptoms. The effectiveness of this inhibition, however, requires intact IFN-γ signaling in T cells. In this study, we report that both mRNA and cell surface expression of the signaling chain of the IFN-γ receptor (IFN-γR2) and its cognate tyrosine kinase JAK2 are enhanced in peripheral blood Th17 cells and clones from patients with AMS compared with those with inactive multiple sclerosis (IMS) or healthy subjects (HS).

Synergistic antitumor activity of sorafenib in combination with epidermal growth factor receptor inhibitors in colorectal and lung cancer cells.

Purpose: Cancer cell survival, invasion, and metastasis depend on cancer cell proliferation and on tumor-induced angiogenesis. We evaluated the efficacy of the combination of sorafenib and erlotinib or cetuximab.

Experimental Design: Sorafenib, erlotinib, and cetuximab, alone or in combination, were tested in vitro in a panel of non-small cell lung cancer (NSCLC) and colorectal cancer cell lines and in vivo in H1299 tumor xenografts.

Advances in imaging of new targets for pharmacological intervention in stroke: real-time tracking of T-cells in the ischaemic brain.

Background And Purpose: T-cells may play a role in the evolution of ischaemic damage and repair, but the ability to image these cells in the living brain after a stroke has been limited. We aim to extend the technique of real-time in situ brain imaging of T-cells, previously shown in models of immunological diseases, to models of experimental stroke.

Experimental Approach: Male C57BL6 mice (6-8 weeks) (n= 3) received a total of 2-5 x 10(6) carboxyfluorescein diacetate succinimidyl ester (CFSE)-labelled lymphocytes from donor C57BL6 mice via i.

Concurrent intra-arterial carboplatin administration and radiation therapy for the treatment of advanced head and neck squamous cell carcinoma: short term results.

Background: The aim of the present study was to evaluate the survival, efficacy and safety of a modified RADPLAT-like protocol using carboplatin instead of cisplatin.

Methods: Fifty-six patients with primary head and neck squamous cell carcinoma received 4 cycles of intra-arterial carboplatin (350 mg/m2 per cycle every 2 weeks), with concurrent three-dimensional conformal radiation therapy.

Results: Two major and 4 minor complications were observed.

beta(3) Integrin subunit mediates the bone-resorbing function exerted by cultured myeloma plasma cells.

alpha(v)beta(3) integrin was investigated in multiple myeloma in relation to the in vitro osteoclast-like activity of malignant plasma cells. Myeloma cells from patients with skeleton involvement overexpressed alpha(v)beta(3) and produced erosion pits on bone substrates, whereas this effect was not observed by cells from patients with no evidence of bone disease. We therefore explored the alpha(v)beta(3) transcriptional pathway in the bone-resorbing cells.

Transhepatic arterial chemoembolization with oxaliplatin-eluting microspheres (OEM-TACE) for unresectable hepatic tumors.

Background: While conventional transhepatic arterial chemoembolization (TACE) is accepted worldwide as an effective treatment for patients with unresectable hepatocellular carcinoma (HCC), its use in other hepatic tumors is not supported by randomized studies. Preliminary results have shown that new drug-eluting microspheres (DEM) seem to optimize TACE procedures. The aim of this study was to evaluate the capability of HepaSphere to load oxaliplatin and their pharmacokinetic outcome.

Human interleukin 17-producing cells originate from a CD161+CD4+ T cell precursor.

We demonstrate that CD161 is a highly up-regulated gene in human interleukin (IL) 17 T helper cell (Th17) clones and that all IL-17-producing cells are contained in the CD161(+) fraction of CD4(+) T cells present in the circulation or in inflamed tissues, although they are not CD1-restricted natural killer T cells. More importantly, we show that all IL-17-producing cells originate from CD161(+) naive CD4(+) T cells of umbilical cord blood, as well as of the postnatal thymus, in response to the combined activity of IL-1 beta and IL-23. These findings implicate CD161 as a novel surface marker for human Th17 cells and demonstrate the exclusive origin of these cells from a CD161(+)CD4(+) T cell progenitor.

Synergistic anti-proliferative and pro-apoptotic activity of combined therapy with bortezomib, a proteasome inhibitor, with anti-epidermal growth factor receptor (EGFR) drugs in human cancer cells.

The proteasome plays a pivotal role in the turnover of regulatory transduction proteins induced by activated cell membrane growth factor receptors. The epidermal growth factor receptor (EGFR) pathway is crucial in the development and progression of human epithelial cancers. Proteasome inhibition may sensitize human cancer cell lines to EGFR inhibitors.

Myocardial strain analysis in a doxorubicin-induced cardiomyopathy model.

The aim of our study was to determine if strain (S) and strain rate (SR) imaging are more sensitive indices with respect to standard echocardiographic parameters to assess cardiac function in an experimental model of doxorubicin (DOX)-induced cardiomyopathy. DOX was administered intraperitoneally 4x/wk at the dose of 1.25 mg/kg/d over four weeks in Wistar rats (n = 26).

Double stenting procedure and coil embolization in a patient with carotid stenosis and incidental ipsilateral intracranial aneurysm. A case report and dosimetric evaluation.

We describe a case of incidental detection of an intracranial left ICA wide-necked aneurysm during digital subtraction angiography performed to assess a sub-occlusive and calcified stenosis in the extracranial portion of the same artery. Angioplasty and stenting of ICA stenosis, plus intracranial stent deployment across the aneurysm neck was performed during the same procedure. Aneurysm coil embolization was postponed to a further session one month later.

A study on maximum skin dose in cerebral embolization procedures.

Background And Purpose: It is essential to measure the skin dose of radiation received by patients during interventional neuroradiologic procedures performed under fluoroscopic guidance, such as embolization of cerebral aneurysms, which is regarded as a high-dose interventional radiology procedure. In this study, we report a method for evaluating maximum skin dose (MSD), an ideal marker of radiation-induced effects, based on an innovative use of radiochromic films.

Materials And Methods: Forty-eight procedures were studied in 42 patients undergoing embolization of cerebral aneurysms.

Radiochromic films for improved evaluation of patient dose in liver interventions.

Purpose: To investigate a method for evaluation of the maximum skin dose (MSD) of radiation in patients undergoing interventional radiology procedures in the liver.

Materials And Methods: Transarterial chemoembolization, transarterial embolization, portal vein embolization, and biliary interventions were the procedures considered in this study. Ninety procedures in 70 patients were studied.

Characterization of focal liver lesions with a new ultrasound contrast agent using continuous low acoustic power imaging: comparison with contrast enhanced spiral CT.

Purpose: To evaluate the concordance of the enhancement patterns of a new ultrasound contrast agent (SonoVue) with those obtained with dual-phase contrast-enhanced spiral CT (CE-CT) in the characterization of focal liver lesions (FLLs).

Materials And Methods: Sixty-two patients with focal liver lesions discovered at ultrasound and also studied with CECT underwent contrast-enhanced ultrasound using continuous low acoustic power imaging after receiving a 2.4 ml bolus of the new US contrast agent SonoVue, consisting of a dispersion of sulphur hexafluoride microbubbles.

Three microsurgical courses in Catania.

The utilization of microsurgical techniques in the surgical disciplines is now accepted worldwide, and many surgeons should receive the opportunity of learning these techniques. To meet this requirement, microsurgical courses have been organized and comprise both theoretical aspects and, especially, practical demonstrations. A one-week course usually allows attending surgeons to get familiar with magnification and to perform microvascular anastomoses, vasovasostomy, tubal reconstruction, sciatic nerve suture, and end-to-side portacaval shunt, a useful exercise before dealing with rodent organ transplantation.

Calibration of papillotomy in the surgical treatment of papillary stenosis: the "little train".

Although laparoscopic and endoscopic surgery have brought about an indisputable revolution in biliary surgery, many surgeons still prefer open surgery for lithiasis of the common bile duct, and if it is associated with a papillary pathology, they perform a papillotomy. However, great controversy regarding the site, modalities, and extension of the papillary section has now developed among surgeons. Our technique is not original; however, we do propose a "calibration" of the papillotomy, carried out by constructing a "little train" made up of several consecutive Nélatons of increasing caliber to identify the sphincter fibers and to obtain sections proportionate to the size of the bile duct.

Photon emission from normal and tumor human tissues.

Photon emission in the visible and near ultraviolet range by samples of human tissue removed during surgery has been measured by means of a low noise photomultiplier coupled to a data acquisition system. The results show that among the 25 analyzed samples the 9 from normal tissues had an emission rate of the order of some tens of photons/cm2 min, while most of the 16 tumor tissue samples had a very much higher rate.

Aztreonam versus gentamicin for short-term prophylaxis in biliary and gastric surgery.

Short-term antibiotic prophylaxis was studied in 80 patients undergoing biliary or gastric surgery. The patients were randomized to receive 1 g of aztreonam or 80 mg of gentamicin intravenously 30 minutes before surgery and 8 and 16 hours after surgery. Of samples taken from the abdominal cavity for bacteriologic study, 53% were culture positive.

Colorectal surgery: short-term prophylaxis with clindamycin plus aztreonam or gentamicin.

A randomized study was conducted to compare the effectiveness of aztreonam plus clindamycin with that of gentamicin plus clindamycin for prophylaxis of infection following colorectal surgery. A total of 138 patients undergoing elective colorectal surgery were randomized to treatment with clindamycin (600 mg) plus either aztreonam (1 g) or gentamicin (80 mg) 30 minutes before and 8 and 16 hours after surgery. The study included 122 patients (88.