Search results for "Europa."
showing 10 items of 1094 documents
Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase
1987
A 42-year-old woman had a 10-year history of external ophthalmoplegia, malabsorption resulting in chronic malnutrition, muscle atrophy and polyneuropathy. Computer tomography revealed hypodensity of her cerebral white matter. A metabolic disturbance consisted of lactic acidosis after moderate glucose loads with increased excretion of hydroxybutyric and fumaric acids. Post-mortem studies revealed gastrointestinal scleroderma as the morphological manifestation of her malabsorption syndrome, ocular and skeletal myopathy with ragged red fibers, peripheral neuropathy, vascular abnormalities of meningeal and peripheral nerve vessels. Biochemical examination of the liver and muscle tissues reveale…
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation
2018
Abstract Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is a rare and severe autosomal recessive disorder. We report on an adult female patient whose clinical findings during childhood were not recognized as CIPA. There was neither complete anhidrosis nor a recognizable sensitivity to heat. Tumorlike swellings of many joints and skeletal signs of Charcot neuropathy developed in adolescence which, together with a history of self-mutilation, led to a clinical suspicion of CIPA confirmed by identification of a novel homozygous variant c.1795G > T in the NTRK1 gene in blood lymphocytes. Both parents were hete…
Observational multicentric study on chronic sciatic pain: clinical data from 44 Italian centers.
2017
OBJECTIVE: To provide informa- tion on the clinical presentation of sciatic neu- ropathy and its management in a real-world set- ting, and to analyze the effects of a multimodal approach based on the association of physical and pharmacological therapy. PATIENTS AND METHODS: A multicentric ob- servational prospective study was conducted in 44 Italian tertiary centers specialized in Physical Medicine and Rehabilitation, Orthopedics, Neu- rology, Neurosurgery, and Rheumatology. To de- velop a shared management of LPB with sciat- ica, a dedicated clinical record was proposed to collect data about diagnosis, treatment, and outcomes. Pain, disability, and quality of life were recorded trough vali…
Main posterior watershed zone of the choroid
1989
The main posterior watershed zone of the choroid is located between the nasal edge of the optic disc and the fovea and represents the area situated between the territories supplied by the temporal and nasal posterior ciliary arteries. In the fluorescein angiographies of 800 normal subjects a watershed zone was not observed in 33.1% due to technical reasons and in 22.3% due to the simultaneous filling of the peripapillar and macular choriocapillaris. In the remaining 44.6% the watershed zone was well outlined: it was straddling the optic disc in about half of these cases and involved the temporal half of the optic disc and the close choroid in the other half. Very rarely the watershed zone i…
Evaluation of carpal tunnel syndrome in patients with polyneuropathy
1997
The difference between the median nerve latency to the second lumbrical muscle and the ulnar nerve latency to the second interosseous muscle (L-I DIFF) was tested in a prospective study to discriminate whether prolonged distal motor latency of the median nerve in patients with polyneuropathy (PNP) reflects an additional carpal tunnel syndrome (CTS). We investigated 92 patients (107 hands) with CTS, 30 patients (34 hands) with PNP, 22 patients (27 hands) with CTS and coexisting PNP (PNP+CTS), and 77 controls (87 hands). L-I DIFF was significantly prolonged in both the CTS and PNP+CTS patients as compared to PNP patients and controls. It proved to be the most specific test to differentiate be…
Isolated infiltrative endometriosis of the sciatic nerve: a report of three patients.
2007
Objective: To report that isolated endometriosis of the sciatic nerve without further manifestation of endometriosis does exist. Design: We describe our technique of laparoscopic neurolysis of the sciatic nerve and the sacral plexus. Setting: Department of Gynecology and Obstetrics, St. Elisabeth Hospital, affiliated with the University of Cologne, Cologne, Germany. Patient(s): Three female patients with isolated endometriotic infiltration of the endopelvic portion of the sciatic nerve. Intervention(s): Elective laparoscopic neurolysis of the sciatic nerve with removal of endometriosis. Main Outcome Measure(s): Disparition of pain in the patients and histologic information of the endometrio…
Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study.
2003
Summary: Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency of α-galactosidase A. Affected patients experience debilitating neuropathic pain and have premature mortality due to renal failure, cardiovascular disease or cerebrovascular complications. The disease may be X-linked dominant, since most females heterozygous for Fabry disease are affected clinically. We evaluated the safety, efficacy and pharmacokinetics of agalsidase alfa (Replagal) administered intravenously to female patients with Fabry disease in an open-label, single-centre study. Fifteen severely affected patients received agalsidase alfa at 0.2 mg/kg every other week for up to 55 weeks. Ag…
Myasthenia gravis associated with Charcot-Marie-Tooth neuropathy: report of a case
1992
We report the case of a 24 year old woman who developed myasthenia gravis in the course of a mild form of Charcot-Marie-Tooth neuropathy. We describe the clinical manifestations together with the neurophysiological, pathological, serological findings and response to therapy and discuss the unusual association in the light of the relevant literature. © 1992 Masson Italia Periodici S.r.l.
FOREWORD a Musicologie sans frontières/Muzikologija bez granice/Musicology without frontiers. Essays in Honour of Stanislav Tuksar
2010
La vita e l'opera di Stanislav Tuksar e il suo contributo alla musicologia internazionale. In particolare gli studi di estetica della musica e di storiografia, nonché il suo lavoro di editor della "International Review of the Aesthetics and Sociology of Music" e i saggi importanti sul rapporto tra le culture nazionali e il cosmopolitismo nell'Europa centrale, in relazione alla Croazia e agli Slavi del Sud dal sedicesimo al diciannovesimo secolo.
Mitogenomics of the Olive Seed Weevil, Anchonocranus oleae Marshall and Implications for Its Phylogenetic Position in Curculionidae
2022
Anchonocranus oleae Marshall (Coleoptera: Curculionidae) is a seed-feeding weevil native to southern Africa; its larvae are known to develop in the fruits of the African Wild Olive and, more rarely, cultivated olives. The species has been mainly found in the Western Cape province of South Africa, but it has remained in relative obscurity because it does not seem to represent a current threat to commercial olive production. As part of an ongoing effort to produce baseline genetic data for olive-associated entomofauna in South Africa, we generated reference DNA barcodes for A. oleae collected from wild and cultivated olives and sequenced its mitogenome for assessment of the phylogenetic posit…