Leukoencephalopathy as a rare complication of hepatitis C infection

Abstract We report the case of a 64-year-old female patient with hepatitis C infection (HCV), who developed Sj?gren’s disease and sensory peripheral neuropathy. Clinical conditions worsened over three years with central nervous system involvement characterised by transient third cranial nerve paresis and mild selective impairment of attention and memory. Brain magnetic resonance imaging showed diffuse periventricular and lobar white matter hyperintensity. Laboratory findings included mixed cryoglobulinaemia (type II), cryocrit 1.47%, low serum levels of complement C4 and high levels of rheumatoid factor, HCV 1b genotype, high HCV mRNA levels in serum and cerebrospinal fluid. Skin biopsy showed evidence of vasculitis. After one year of plasmapheresis, immunosuppressant therapy and occasional corticosteroid treatment, neurological symptoms improved, skin biopsy changed and inflammation parameters normalised, suggesting that neurological symptoms might be related to the high levels of mixed cryoglobulins.     

A novel type I factor X variant (factor X Cys350Phe) due to loss of a disulfide bond in the catalytic domain.

We report a novel mutation within the coagulation factor X (FX) that we have designated FX Padua 4. The phenotype and genotype of the proband and family members were studied. The proband was a child affected by a complex neurological syndrome who, after birth, experienced severe bleeding. The proband showed a laboratory pattern characterized by a severe reduction of FX activity and FX antigen, suggesting a true deficiency. Molecular analysis disclosed a new FX mutation localized in the catalytic domain responsible for a Cys350Phe substitution. The proband was homozygous for this mutation. The proband's mother and father showed a heterozygous pattern and had approximately one-half the normal FX activity and FX antigen. Residual purified FX Cys350Phe had an identical behavior to normal FX as showed by sodium dodecyl sulfate-polyacrylamide gel electrophoresis. Molecular modeling confirms that the mutation leads to the disruption of a disulfide bridge in the catalytic region of FX. Comparison with other topologically equivalent mutations in other vitamin K-dependent proteins suggests that this disruption could adversely affect protein folding/stability, accounting for the cross-reactive material negative phenotype.     

Copper and hepatocellular carcinoma

The presence of copper and copper-binding protein (CBP) within tumor cells was searched by histochemical methods (rhodanine, rubeanic acid and Shikata's orcein) in a group of 39 autopsies, all consecutive cases of hepatocellular carcinoma (HCC) associated with cirrhosis (HCC + C). In 2 cases, fibrolamellar carcinoma (FLC) not associated with cirrhosis was observed at surgery. Considerable amounts of copper and CBP were found within tumor cells only in the 2 FLC cases and in 1 HCC + C case, in a portion of the tumor showing FLC-like features. Copper-positive tumor cells had an oncocytic appearance, which was confirmed by ultrastructural examination. In 64% of the HCC + C cases (25 out of 39), copper and CBP deposits were found in nonneoplastic hepatocytes mainly distributed along the periphery of cirrhotic nodules. The present study indicates that the storage of copper inside tumor cells is a peculiarity of the FLC type of HCC with a close relationship to the oncocytic nature of neoplastic hepatocytes. The significance of copper deposits in nonneoplastic cirrhotic hepatocytes remains a matter for further investigations.     

The Effects of Task-Irrelevant Olfactory Information on the Planning and the Execution of Reach-to-Grasp Movements

Previous evidence indicates that, when reaching to grasp a target object, the presence of nontarget irrelevant information (i.e., distractor) presented either in the visual or olfactory modality determines significant interference effects on temporal parameters, such as reaction time and movement time, and on movement kinematics. While research on “visual” distractor has also revealed that such interference effects disappear when prior knowledge about the target is given to participants, this aspect for olfactory distractors has yet to be investigated. Therefore, here we asked participants to reach towards and grasp a small or a large visual target following the delivery of an odor evoking either a small or a large object. When the type of grasp evoked by the odor did not coincide with that for the visual target, interference effects were evident on reach duration and reaction time, but kinematics of hand shaping remained unaltered. This study demonstrates that, when participants knew in advance which object was the target, olfactory nontargets produced no interference effects on movement kinematics, but they did on key temporal measures, i.e., reaction time and reach duration. These findings are discussed in light of current theories put forward to explain the sensory processes underlying the control of action.     

Serum ferritin as a marker of potential biochemical iron overload in athletes.

OBJECTIVES: Beyond hematological manipulation, iron supplementation therapy is commonplace in athletes to counterbalance physiological or pathologic anemia and to prevent physiologic dysfunction. However, misuse of iron therapy, occasionally resulting in iron overload, is not free from metabolic risks. DESIGN: We planned to measure baseline serum ferritin concentration in sedentary individual and athletes. SETTING: The Institute of Clinical Biochemistry of the Verona University. PARTICIPANTS Serum ferritin was measured in 60 male healthy sedentary controls, 80 amateur road cyclists, 42 male professional cross-country skiers, and 88 professional male road cyclists. ASSESSMENT OF RISK FACTORS: The biochemical iron overload was ascertained by measuring baseline serum ferritin concentration as a reliable approach that mirrors the total body iron content. MAIN OUTCOME MEASUREMENTS: The concentration of serum ferritin in healthy controls was 112 +/- 78 ng/mL, whereas that of amateur cyclists, professional skiers, and professional cyclists was 127 +/- 76 ng/mL (P = 0.185), 183 +/- 130 ng/mL (P = 0.001), and 332 +/- 218 ng/mL (P < 0.001), respectively. RESULTS: Both categories of professional athletes showed significantly increased concentrations of serum ferritin, whereas the concentration of amateur cyclists was comparable to that of healthy sedentary controls. CONCLUSIONS: Professional endurance athletes have serum ferritin concentrations that are 2-fold to 3-fold higher than those of matched sedentary individuals and amateur athletes, exceeding the threshold for the diagnosis of biochemical iron overload and unveiling potential metabolic risks.     

Thermal care of functional dyspepsia based on bicarbonate-sulphate-calcium water: a sequential clinical trial

Drug treatment of functional dyspepsia is often unsatisfactory.We assessed the efficacy of a bicarbonate-sulphate-calcium thermalwater cycle of 12 days, in patients with functional dyspepsia.Patients with functional dyspepsia were sent by their generalpractitioners to 12 days of treatment with thermal water, 200–400ml in the morning, at temperature of 33°C (91.4 F) and wereevaluated on a strict intention to treat basis. Four efficacyendpoints were analyzed as follows: (i) reduction of the globalsymptoms score, (ii) reduction of intensity to a level not interferingwith everyday activities, (iii) specific efficacy on ulcer-likeor dysmotility-like dyspepsia and (iv) esophageal or abdominal-associatedsymptoms. Statistical significance was reached for all threeprimary outcomes after the first 29 consecutive patients. Thermalwater reduced the global symptom score, reduced intensity ofsymptoms to a level not interfering with everyday activity,but was unable to completely suppress all symptoms. A paralleleffect emerged for ulcer-like and dyspepsia-like subgroups.The effect on heartburn and abdominal symptoms was not significant,suggesting a specific effect of the water on the gastric andduodenal wall. The Roma II criteria identify a natural kindof dyspepsia that improves with thermal water. Ulcer-like anddysmotility-like are not therapeutically distinguishable subgroups.Patients with dominant esophageal or abdominal symptoms shouldreceive a different therapy. Sequential methods are very effectivefor the evaluation of traditional care practices and shouldbe considered preliminary and integrative to randomized controlledtrials in this context.     

Nodular fasciitis of the male breast: a case report

A case of nodular fasciitis is reported that involved the breast parenchyma of a 40-year-old man. The differential diagnosis of nodular fasciitis in the male breast mainly includes fibromatosis and myofibroblastoma. However, other benign and malignant spindle cell lesions of the breast, such as pseudoangiomatous stromal hyperplasia and especially spindle cell metaplastic carcinoma and fibrosarcoma, may enter the differential. The classic histomorphologic features and immunohistochemical findings are helpful in arriving at the correct diagnosis. The patient underwent a total excision of the lesion and is free of disease after 14 months. To our knowledge, this is the first reported case of a lesion of this type in the male breast.     

Acute Toxicity of Ammonia,Nitrite and Nitrate to Shrimp <Emphasis Type="Italic">Litopenaeus vannamei</Emphasis> Postlarvae in Low-Salinity Water

Shrimp farming in low salinities waters is an alternative to increasing production, and counteracting disease problems in brackish and marine waters. However, in low-salinity waters, toxicity of nitrogen compounds increases, and there is no available data of its acute toxicity in shrimp postlarvae. This study determined the acute toxicity of ammonia, nitrite and nitrate in Litopenaeus vannamei postlarvae in 1 and 3 g/L salinity, as well as the safety levels. The LC₅₀ confirms that nitrite is more toxic than ammonia and nitrate in low salinity waters, and that its toxicity increases with a decrease in salinity. The safe levels estimated for salinities of 1 and 3 g/L were 0.54 and 0.81 mg/L for total ammonia–N, 0.17 and 0.25 mg/L for NO₂–N, and 5.6 and 21.5 mg/L for NO₃–N, respectively.