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Background Detection of brain-MRI T2/T2* gradient echo images (T2*GRE)-hypointensity can be compatible with iron accumulation and leads to a differential diagnosis work-up including neurodegeneration with brain iron accumulation (NBIA) and Wilson Disease. Idiopathic or secondary brain calcification can be also associated with neurological involvement and brain-MRI T2/T2*GRE-hypointensity. Hereditary hemochromatosis (HH), characterized by systemic iron loading, usually does not involve the CNS, and only sporadic cases of neurological abnormalities or brain-MRI T2/T2*GRE-hypointensity have been reported. Case presentation A 59-year-old man came to our observation after a diagnosis of HH carried out in another hospital 2 years before. First-level genetic test had revealed a homozygous HFE p.Cys282Tyr (C282Y) mutation compatible with the diagnosis of HFE-related HH, thus phlebotomy treatment was started. The patient had a history of metabolic syndrome, type-2 diabetes, autoimmune thyroiditis and severe chondrocalcinosis. Brain-MRI showed the presence of bilateral T2*GRE hypointensities within globus pallidus, substantia nigra, dentate nucleus and left pulvinar that were considered expression of cerebral siderosis. No neurological symptoms or family history of neurological disease were reported. Neurological examination revealed only mild right-sided hypokinetic-rigid syndrome. Vitamin D–PTH axis, measurements of serum ceruloplasmin and copper, and urinary copper were within the normal range. A brain computed tomography (CT) was performed to better characterize the suspected and unexplained brain iron accumulation. On the CT images, the hypointense regions in the brain MRI were hyperdense. DNA sequence analysis of genes associated with primary familial brain calcification and NBIA was negative. Conclusions This report highlights the importance of brain CT-scan in ambiguous cases of suspected cerebral siderosis, and suggests that HH patients with a severe phenotype, and likely associated with chondrocalcinosis, may display also brain calcifications. Further studies are needed to confirm this hypothesis. So far, we can speculate that iron and calcium homeostasis could be reciprocally connected within the basal ganglia.

Primary Sjögren’s syndrome (pSS) is a progressive autoimmune disease and is characterized by eye and mouth dryness due to lymphocytic infiltration in lacrimal and salivary glands leading to tissue destruction, but it can also present systemic manifestations including lung involvement. Respiratory manifestations in pSS have a prevalence of 9-20% and can be due to airway and/or lung parenchyma involvement, such as in particular in interstitial lung diseases like lymphocytic interstitial pneumonia (LIP). LIP is an inflammatory diffuse parenchymal lung disease, which is almost invariably associated with other conditions, such as autoimmune diseases and immunodeficiency states, and usually affects women with a mean age of 50 years. We described a case of patient with LIP who was referred to our Internal Medicine Unit and the diagnostic issues related to the patient age and comorbidities.

Background Portal vein thrombosis (PVT) is serious complication of liver cirrhosis (LC), especially in the presence of hepatocellular carcinoma (HCC). The liver plays a key role in homocysteine (Hcy) metabolism: mild hyperhomocysteinemia (HHcy) has been described in LC. HHcy is a risk factor for deep vein thrombosis. Methylen-tetrahydrofolate-reductase (MTHFR) C677T polymorphism is the commonest determinant of mild HHcy and has been involved also in cancer development. Aim To investigate a possible relation between HHcy, MTHFR status, HCC and PVT in patients affected by LC. Materials and methods 100 patients affected by LC, 38 with (PVT group, 24 with HCC) and 62 without PVT (LC group, 14 with HCC) sex-, age-, liver disease stage and etiology-matched were assessed for thrombophilia, smoking status, plasma Hcy, MTHFRC677T polymorphism and homocysteine-related vitamin status. Results A higher prevalence of HCC, HHcy and MTHFR TT status was observed in PVT group. No significant difference in vitamin status was observed between groups. Patients with HCC showed significantly higher plasma Hcy and higher prevalence of HHcy than patients without HCC. They had also higher prevalence of MTHFR TT status. In patients with TT status ( n = 11) and HCC, 10 had HHcy e 9 had PVT. Conclusions Mild HHcy is associated to LC may have a role in PVT development and assessment of plasma Hcy may be suggested in patients with LC (especially if complicated by HCC). Association between HCC and MTHFR TT status is intriguing, due the postulated role for this polymorphism in cancer: it may represent a possible link between HCC and PVT.

Acquired copper deficiency represents a rare cause of progressive myelopathy presenting with sensory ataxia and spastic gait. The time interval from neurological symptoms onset to diagnosis of myelopathy ranges from 2 months to several years in almost all cases, mimicking the clinical course of subacute combined degeneration due to vitamin B12 deficiency.A 60-year-old man, without any gastrointestinal symptoms, developed over the course of one week rapidly progressive gait imbalance, tingling and numbness in his feet and ascending lower limb weakness. Spine magnetic resonance imaging revealed hyperintensity involving cervical and dorsal posterior columns of spinal cord. Blood analysis revealed undetectable serum copper levels, low serum ceruloplasmin and positive serum Immunoglobulin A anti-tissue transglutaminase. Upper gastrointestinal endoscopy was performed revealing duodenal villous atrophy consistent with a malabsorption pattern. A gluten-free diet in association with intravenous then oral copper supplementation prompted sustained normalization of serum copper levels and progressive clinical improvement.We report a rare case of myelopathy induced by copper deficiency secondary to undiagnosed celiac disease, peculiarly presenting with a subacute onset. This case expands the neurological presentation and clinical course of myelopathy due to acquired copper deficiency. We suggest investigation of copper deficiency in patients presenting with subacute or even acute sensory ataxia and spastic gait. Detection of hypocupremia in patients without a previous history of gastric surgery should lead to diagnostic testing for celiac disease even in the absence of any obvious gastrointestinal symptoms.

Several industrial and research and development processes can possibly make use of Inductively Coupled Plasma (ICP) torches in the interaction with either a static or a rotating cylindrical substrate; like for high purity silica overcladding of preforms for optical fiber production, as well as in some calibration procedure for high precision measurement of physical properties of materials and, generally, in the frame of thermal treatment techniques, with or without chemical synthesis and deposition of materials. The investigation of thermo-fluid-dynamic phenomena in the downstream plasma region of interaction with the substrate is important in order to optimize these processes, also taking advantage of the many operating and geometric parameters intrinsic in the use of ICP plasmas. The interaction between cylindrical rods of different diameters (4, 8, 16 mm) and materials (stainless steel and quartz), placed at different distances (30 and 40 mm) from the exit region of an ICP torch operated in Ar at 13.56 MHz and 500 W at atmospheric pressure has been investigated using Schlieren Imaging (SI) with a Z-type setup; substrate temperature measurements have been obtained using infrared temperature sensors. Two different points of view of the same experimental set-up have been used for SI: one with the camera axis coaxial with the rod axis, while another one with the camera axis perpendicular to both rod and torch axis, as shown in Fig. 1. Hot-spot temperature on the surface of the substrate has been measured with infrared sensors (Optris LTCF1); results are compared with T distribution obtained with 3D simulation of the region where the substrate interacts with the impinging jet; axisymmetric 2D simulation of the volumetric region where plasma is generated has been used. Experimentally derived temperatures are also used to validate the simulation model and to “tune” it with the aim of choosing the best physical description of the turbulent phenomena occurring downstream the torch. Future studies will concern the analysis of substrate under rotation and/or translation.