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FLAVIA CICUTTINI GFUEME BARO GEOFFREY LITTLEJOHN 《Journal of Medical Imaging and Radiation Oncology》1990,34(2):177-180
A case of cord compression, secondary to Paget's disease, and responding to medical therapy is presented. The role of current imaging techniques in this condition is discussed. 相似文献
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Immunohistochemical evidence suggests intrinsic regulatory activity of human eccrine sweat glands 总被引:1,自引:0,他引:1
CARLO ZANCANARO FLAVIA MERIGO CATERINA CRESCIMANNO SIMONETTA ORLANDINI ANTONIO OSCULATI 《Journal of anatomy》1999,194(3):433-444
Immunohistochemistry of normal eccrine sweat glands was performed on paraffin sections of human skin. Immunoreactivity (ir) for neuron specific enolase, S100 protein (S100), regulatory peptides, nitric oxide synthase type I (NOS-I) and choline-acetyltransferase (ChAT) was found in small nerve bundles close to sweat glands. In the glands, secretory cells were labelled with anticytokeratin antibody. Using antibodies to S100, calcitonin gene-related peptide (CGRP) and substance P (SP) a specific distribution pattern was found in secretory cells. Granulated (dark) and parietal (clear) cells were immunopositive for CGRP, and S100 and SP, respectively. Immunoreactivity was diffuse in the cytoplasm for CGRP and S100, and peripheral for SP. Myoepithelial cells were not labelled. Electron microscopy revealed electron dense granules, probably containing peptide, in granulated cells. Using antibodies to NOS-I and ChAT, ir was exclusively found in myoepithelial cells. Immunoreactivity for the atrial natriuretic peptide was absent in sweat glands. These results provide evidence for the presence of both regulatory peptides involved in vasodilation and key enzymes for the synthesis of nitric oxide and acetylcholine in the secretory coil of human sweat glands. It is suggested that human sweat glands are capable of some intrinsic regulation in addition to that carried out by their nerve supply. 相似文献
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LORENZO MAGGI FRANCO SALERNO CINZIA BRAGATO SIMONA SAREDI FLAVIA BLASEVICH ELIO MACCAGNANO BARBARA PASANISI CESARE DANESINO MARINA MORA LUCIA MORANDI 《Acta myologica》2013,32(2):85-90
The adult-onset form of Pompe disease had a wide clinical spectrum, ranging from asymptomatic patients with increased CK to muscle cramps and pain syndrome or rigid-spine syndrome. In addition clinical severity and disease progression are greatly variable. We report on a family with 3 siblings characterized by an unusual adult-onset Pompe disease including dysphagia and weakness of tongue, axial and limb-girdle muscles, in association with atypical globular inclusions in muscle fibres. Our study confirms the great clinical and histological variability of adult-onset Pompe disease and further supports the need of careful evaluation of bulbar function in patients affected by this pathology.Key words: Pompe disease, globular inclusions, bulbar symptomsGlycogen storage disease type II (Pompe disease or acid maltase deficiency) is a rare autosomal recessive muscular disorder characterized by deficiency of acidalfa glucosidase (GAA), determining accumulation of glycogen in the lysosomes, mainly in cardiac and skeletal muscle cells. Typical phenotypes of glycogenosis type II include the severe classic infantile form, characterized by severe muscle weakness and hypertrophic cardiomyopathy, almost invariably fatal by 12 months, a "non-classic" form presenting between 1 and 2 years of age and the lateonset form, presenting at any time after the age of 1 year, including juvenile and adult-onset subtypes, which are considered as part of a continuous clinical spectrum (1). In particular the adult-onset form presents with slowly progressive proximal lower limb and/or paraspinal muscle weakness, often followed by restrictive respiratory failure, which could be life-threatening, as it is in infants and children (2). However the clinical spectrum of adultonset form is wide, ranging from asymptomatic patients with increased CK to muscle cramps and pain syndrome or rigid-spine syndrome (2, 3). Furthermore clinical severity and disease progression is greatly variable.We report on a family with 3 siblings with an unusual adult-onset Pompe disease clinically characterized by weakness of bulbar, axial and limb-girdle muscles in association with atypical histopathological changes. 相似文献
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DANIELE SEIPEL FLAVIA LIMA RIBEIRO‐Gomes MICHELLE WILLMEN BARCELOS ANDR VILLAA RAMALHO MILTON M. KANASHIRO THEREZA LIBERMAN KIPNIS ANDREA CRISTINA VETO ARNHOLDT 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2009,117(9):672-680
Toxoplasma gondii is an obligate intracellular parasite that is able to disseminate into deep tissues and cross biological barriers, reaching immunoprivileged sites such as the brain and retina. The parasite is able to infect macrophages and dendritic cells and use them for dispersal throughout the body, but the activation state of those cells is unknown. We investigated the ability of human and murine cells from monocytic/macrophage lineages that had not previously been exposed to inflammatory cytokines to up‐regulate co‐stimulatory and adhesion molecules upon infection. Toxoplasma gondii‐infected human monocytes (freshly isolated and THP1 lineage) were unable to up‐regulate CD86, CD83, CD40 or CD1a. CD80 expression increased in infected cells but expression of l ‐selectin and β2 integrin was unaltered. We evaluated the ability of infected macrophages from wild type C57/BL/6 or CD14?/? mice to migrate in 8 μm transwells. Infected cells from CD14?/? mice were more likely to de‐adhere than infected cells from wild type mice but they did not show any increase in migratory ability. The non‐stimulatory profile of these infected cells may contribute to parasite spread throughout the lymphatic circulation in the initial phases of infection. 相似文献
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F. CICUTTINI MB BS G. O. LITTLEJOHN MD FRACP Senior Lecturer 《Journal of paediatrics and child health》1989,25(1):21-24
Abstract The clinical features of 60 female adolescents (mean age 15 ± 0.3 years) presenting consecutively to a rheumatologist are reviewed. Thirty-five per cent met criteria for well-defined chronic pain syndromes, 19 having fibrositis syndrome and two having a reflex sympathetic dystrophy syndrome. Other diagnoses were inflammatory arthritis (30%), anterior knee pain syndromes (13.3%), tendinitis (8.3%) and miscellaneous conditions (13.3%). The high prevalence of chronic pain syndromes in this patient group is highlighted and an approach to management is suggested. 相似文献
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WIM J.E.P. LAMMERS FLAVIA RAVELLI MARCELLO DISERTORI RENZO ANTOLINI FRANCESCO FURLANELLO MAURITS A. ALLESSIE 《Journal of cardiovascular electrophysiology》1991,2(5):375-387
Variations in Atrial Flutter Cycle Length. Introduction : The purpose of this investigation was to study the mechanisms responsible for small variations in atrial flutter cycle lengths. Methods and Results : In a study group of 11 patients with common atrial flutter, atrial electrograms were recorded from an intraesophageal lead together with a surface lead (V1). Upon the onset of the QRS complex, atrial flutter intervals consistently increased by an average of 1.8% (SD± 0.9; P <0.01) and subsequently decreased by 2.1% (SD ± 0.8; P <0.01) before returning to the average flutter rate. Carotid sinus massage, which temporally prevented ventricular activation, markedly reduced the variations in atrial flutter intervals. Ventricular pacing at different rates clearly demonstrated that the pattern in atrial flutter intervals was coupled to the moment of ventricular contraction. The hypothesis was formulated that these periodic variations in atrial flutter intervals following a ventricular contraction were caused by the influence of stretch of the atrial myocardium on the conduction properties of a circulating impulse in the atrium. The secondary decrease in flutter rate could be explained if a partial excitable gap is assumed between head and tail of the circus movement. This hypothesis was tested in a simulation study, which revealed that the alternation in intervals as found in patients could only be reproduced if the excitable gap in the circus movement was partially excitable. Conclusion : In conclusion, the analysis of variations in atrial flutter cycle lengths points to a mechanism of circus movement with a partially excitable gap in common atrial flutter. 相似文献
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FLAVIA CORTESI FLAVIA GIANNOTTI TERESA SEBASTIANI SARA PANUNZI DONATELLA VALENTE 《Journal of sleep research》2012,21(6):700-709
Although melatonin and cognitive–behavioural therapy have shown efficacy in treating sleep disorders in children with autism spectrum disorders, little is known about their relative or combined efficacy. One hundred and sixty children with autism spectrum disorders, aged 4–10 years, suffering from sleep onset insomnia and impaired sleep maintenance, were assigned randomly to either (1) combination of controlled‐release melatonin and cognitive–behavioural therapy; (2) controlled‐release melatonin; (3) four sessions of cognitive–behavioural therapy; or (4) placebo drug treatment condition for 12 weeks in a 1 : 1 : 1 : 1 ratio. Children were studied at baseline and after 12 weeks of treatment. Treatment response was assessed with 1‐week actigraphic monitoring, sleep diary and sleep questionnaire. Main outcome measures, derived actigraphically, were sleep latency, total sleep time, wake after sleep onset and number of awakenings. The active treatment groups all resulted in improvements across all outcome measures, with moderate‐to‐large effect sizes from baseline to a 12‐week assessment. Melatonin treatment was mainly effective in reducing insomnia symptoms, while cognitive–behavioural therapy had a light positive impact mainly on sleep latency, suggesting that some behavioural aspects might play a role in determining initial insomnia. The combination treatment group showed a trend to outperform other active treatment groups, with fewer dropouts and a greater proportion of treatment responders achieving clinically significant changes (63.38% normative sleep efficiency criterion of >85% and 84.62%, sleep onset latency <30 min). This study demonstrates that adding behavioural intervention to melatonin treatment seems to result in a better treatment response, at least in the short term. 相似文献
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MARIA CRISTINA ROSATELLI VALERIA FAA ALESSANDRA MELONI FLAVIA FIORENZA RENZO GALANELLO DANIELA GASPERINI GIOVANNI AMENDOLA† ANTONIO CAO 《British journal of haematology》1995,90(2):483-485
Summary. This study describes the clinical phenotype of the C?→? T mutation at position – 92 of the β-globin gene. Excluding two cases with HbA2 levels within the range of the /3-thalassaemia carrier state, heterozygotes for this mutation showed normal or borderline red blood cells count, Hb levels, MCV, MCH and HbA2 values, and unbalanced globin chain synthesis. Compound heterozygotes for the - 92 C → T mutation and a β° thalassaemia mutation (β°39) (two cases) or severe β-thalassaemia (p+ IVSII nt 745) (two cases) developed thalassaemia intermedia. According to these characteristics, the –92 promoter mutation should be added to the list of silent β-thalassaemias. 相似文献