Mitochondrial function and mitochondrial DNA in a series of 64 patients suspected of having mitochondrial myopathy

Biochemical results concerning 64 patients suspected of mitochondrial myopathies are presented. Four clinical groups were studied including 21 encephalomyopathies, 42 ocular myopathies, 8 isolated myopathies and 3 cardiomyopathies. In 26 cases, the coexistence of a normal mitochondrial DNA and a mutated mitochondrial DNA (heteroplasmy) was found (19 simple deletions, 4 multiple deletions and 3 punctual mutations) and all cases presented with ocular disorders (excepted 2 cases with MERRF). Furthermore, 1 complex I deficiency (1 ocular myopathy), 1 complex IV deficiency (1 adult encephalomyopathy type Leigh), 3 complexes I + IV deficiencies (2 cases with a cardiomyopathy and 1 familial MELAS) and 2 pyruvate (1 adult from of Leigh's encephalomyopathy) dehydrogenase deficiencies (clinically and genetically different) did not show evidence of mitochondrial DNA mutation.     

Mortality study of asbestos cement workers

The present study describes cause-specific mortality of asbestos cement workers in the Emilia Romagna region of Italy. The cohort included workers in ten factories, most of which started operating between 1955 and 1965. Asbestos, mainly chrysotile, constituted 10%–20% of the dry component of the mixture. Crocidolite range between 5% and 50% of total asbestos. Asbestos concentrations up to 44 ff/cc were reported prior to 1975, while in recent years they have usually been below 0–1 ff/cc. The cohort included 3341 workers who had at some time been employed in the ten factories under study. Their mortality experience was compared with that of the population resident in Emilia Romagna. Vital status was ascertained at 1989. Seventy-three subjects were lost to followup (2.2%). Mortality from all causes and from all types of cancer was increased in the cohort. Malignant neoplasms of the respiratory tract showed a significant increase (SMR: 134; 90% confidence interval: 101–175; 40 observed) due to lung cancer (SMR: 124; 90% confidence interval: 91–166; 33 observed) and neoplasms of the pleura, mediastinum, and other parts of the respiratory tract (SMR: 602; 90% confidence interval 237–1267; 5 observed). The discrepancy between observed and expected mortality mainly concerned subjects with at least 20 years of employment in the factories. Five more cases of histologically confirmed mesothelioma occurred after the end of follow-up.     

High-dose infliximab prophylaxis in endotoxin-induced uveitis.

PURPOSE: The aim of this study to analyze the preventive effect of high-dose infliximab in endotoxin-induced uveitis (EIU) in rabbits. METHODS: An experimental study was conducted on 64 rabbits. Salmonella typhimurium lipopolysaccharide endotoxin was intravitreally injected. Infliximab was intravenously (i.v.) injected 24 h before the intravitreal injection (20 mg/kg). The animals were randomly assigned to five groups: group A, saline intravitreal injection; group B, Infliximab i.v. group C, infliximab + saline; group D, intravitreal endotoxin and group E, infliximab i.v. + intravitreal endotoxin. With two masked observers, a microscopic examination of aqueous humor (cells, tumor necrosis factor [TNF] alpha) and aqueous protein level were performed 24 h after an endotoxin injection and 48 h after an infliximab infusion. RESULTS: Infliximab treatment, at a dose of 20 mg/kg, significantly improved all the parameters. Inflammatory cell infiltration was significantly reduced in the iris, ciliary body, and anterior chamber (U Mann-Whitney test, P = 0.01). Associated with a lower level of TNF-alpha and protein exudate in aqueous humor (U Mann-Whitney test, P = 0.01). CONCLUSIONS: Infliximab, at a dose of 20 mg/kg, is effective in the prophylaxis of the EIU.     

Increased incidence of gap junctional coupling between spinal motoneurones following transient blockade of NMDA receptors in neonatal rats

Neonatal rat motoneurones are electrically coupled via gap junctions and the incidence of this coupling declines during postnatal development. The mechanisms involved in this developmental regulation of gap junctional communication are largely unknown. Here we have studied the role of NMDA receptor-mediated glutamatergic synaptic activity in the regulation of motoneurone coupling. Gap junctional coupling was demonstrated by the presence of graded, short latency depolarising potentials following ventral root stimulation, and by the transfer of the low molecular weight tracer Neurobiotin to neighbouring motoneurones. Sites of close apposition between the somata and/or dendrites of the dye-coupled motoneurones were identified as potential sites of gap junctional coupling. Early postnatal blockade of the NMDA subtype of glutamate receptors using the non-competitive antagonist dizocilpine maleate (MK801) arrested the developmental decrease in electrotonic and dye coupling during the first postnatal week. These results suggest that the postnatal increase in glutamatergic synaptic activity associated with the onset of locomotion promote the loss of gap junctional connections between developing motoneurones.     

Symptomatic reversible duodenal compression due to iatrogenic retroperitoneal hematoma

Selective serotonin reuptake inhibitors are frequently employed to treat depression. However, although rarely, coagulation abnormalities have been described following the use of these compounds, and these effects appear to be enhanced by simultaneous use of nonsteroidal anti-inflammatory drugs. We describe a case of reversible symptomatic duodenal compression caused by a retroperitoneal hematoma after ingestion of sertraline and nimesulide.     

Carbon dioxide laser salvage surgery after radiotherapy failure in T1 and T2 glottic carcinoma.

OBJECTIVES: Recurrent glottic carcinoma after radiotherapy (RT) may be managed by open neck or endoscopic surgery. The impact of endoscopic treatment with CO(2) laser for recurrent glottic carcinoma after RT is reported. METHODS: We present the oncologic and vocal outcomes of a retrospective study based on a series of 16 patients with rT1 and rT2 glottic carcinoma who were endoscopically managed between February 1995 and December 1999 after RT failure. All patients were males with a mean age of 68.7 years (range, 50 to 87 years). Before RT, the lesions had been staged as T1 N0 in 11 patients and T2 N0 in 5, and after RT as rT1 N0 in 12 and rT2 N0 in 4. According to the European Laryngological Society classification, a total of 9 transmuscular, 3 total, and 4 extended cordectomies were performed. Mean follow-up was 45 months (range, 9 to 79 months). RESULTS: Endoscopic salvage surgery was successful in 14 patients. One of them developed a second recurrence and was definitively cured with an additional endoscopic procedure. Two of the 16 patients had recurrent disease after salvage laser surgery and died due to progression of disease. Ultimate local control with laser alone at 3 years was 87.1%, according to the Kaplan-Meier method. Laryngeal preservation was obtained in all survivors after endoscopic rescue surgery. Voice analysis showed a clear correlation between the amount of vocal cord tissue resected and decrease of the vocal outcome. CONCLUSIONS: The present series indicates that selected recurrences after primary RT for T1 and T2 glottic carcinoma are eligible for endoscopic salvage surgery with oncologic results comparable to those with open neck procedures but with a lower complication rate and a favorable functional outcome.     

Sleep complaints and their relation with drug treatment in patients suffering from Parkinson's disease.

The aim of this research was to quantify sleep problems in patients suffering from Parkinson's disease by means of the new Parkinson's Disease Sleep Scale (PDSS) and to correlate such problems with the possible influence of current drug treatment. A total of 70 patients (36 men and 34 women) with a diagnosis of Parkinson's disease were enrolled. Their mean age was 69.7 +/- 8.2 years, and duration of disease was 7.4 +/- 4.8 years. All patients completed the PDSS and the Unified Parkinson's Disease Rating Scale (UPDRS Parts I-IV). Drug consumption and doses were registered. The mean score on the PDSS scale was 109.23 +/- 19.75 and on the UPDRS III scale was 25.24 +/- 11.35. The lowest scores were obtained in Item 3 (sleep fragmentation): 5.53 (2.46); and in Item 8 (nocturia): 5.75 (2.91). There was a weak correlation between the PDSS and UPDRS III (cc = -0.355, P = 0.003), PDSS and UPDRS I (cc = -0.272, P = 0.02), and PDSS and UPDRS IV (cc = -0.416, P < 0.001). Motor conditions, mental state, and drug complications influence sleep quality. Although this effect was significant, it was not of a great magnitude. Dopaminergic drugs did not increase daytime sleepiness. As a whole, sleep quality in patients who took dopaminergic agonists did not differ from that of patients who took levodopa in monotherapy.     

Age-related changes in the turnover rates of D1-dopamine receptors in the retina and in distinct areas of the rat brain

The steady-state density and the turnover rates of D₁-dopamine receptors were investigated in the striatum, nucleus accumbens, substantia nigra, and retina of adult (3-month-old) and aged (23-month-old) rats. The turnover rates were measured by monitoring the repopulation kinetics of D₁-dopamine receptors labeled with [³H]-SCH 23390 after the irreversible inactivation induced by a single dose of N-ethoxycarbonyl-2-ethoxy-1,2-dihydroquinoline (EEDQ, 10 mg/kg, s.c.). In all the neural tissues examined, the repopulation of D₁ dopamine receptors could be adequately described by a theoretical model that assumes a constant rate of receptor production (i.e. zero order) and a rate of degradation that is dependent on the receptor density at any time (i.e. first order). The results obtained indicate that the reduction in the density of D₁-dopamine receptors in the striatum, nucleus accumbens and substantia nigra of aged rats is the result of a larger decrease in the receptor production rate (−44 to −60%) than in the receptor degradation rate (−21 to −46%). By contrast, the production rate of D₁-dopamine receptors in the retina of aged rats remains unchanged, whilst the degradation rate is reduced by 25%. This results in an age-related increase in the density of D₁-dopamine receptors in the rat retina.     

Chronic peritoneal dialysis in paediatrics: Experience of a national registry

The results of the first 3 year' collaboration of the Italian Registry of Paediatric Chronic Peritoneal Dialysis (CPD) (1986–1988) are presented. This Registry acquired data on the majority of the paediatric patients treated with CPD in Italy, thus providing a national picture in a field where few nationwide surveys are available. Patients of less than 15 years of age at the start of dialysis were enrolled and clinical data collected until the age of 19 years. The number of nephrological paediatric centres participating in the Registry increased from 7 in 1986 to 11 in 1988. The total number of patients on CPD was 70 and the percentage of dialysed children treated with CPD ranged from 40.2% to 43.6%. Data on 89 peritoneal catheters were collected: during 1417 dialysis-months 70 catheter-related complications were observed (1:20.8 dialysis-months); actuarial catheter survival was 92.7% at 6 months, 84.8% at 1 year and 68.8% at 2 years. The incidence of peritonitis changed from 1 episode every 10.9 patient-months in 1986 to 1 every 19.8 in 1988. Abdominal hernias were the other main clinical complication observed. The survival of patients was 92.5% at 3 years, while the technique survival at the same time was 84%.