Nerve ultrasound in Friedreich's Ataxia: enlarged nerves as a biomarker of disease severity.

OBJECTIVE: In Friedreich's ataxia research, the focus is on discovering treatments and biomarkers to assess disease severity and treatment effects. Our study examines high-resolution nerve ultrasound in these patients, seeking correlations with established clinical markers of disease severity. METHOD: Ten patients with Friedreich's Ataxia underwent a comprehensive clinical assessment with established scales (SARA, FARS, mFARS, INCAT, ADL 0-36, IADL). Additionally, they underwent nerve conduction studies and high-resolution nerve ultrasound. Quantitative evaluation of nerve cross-sectional area, conducted at 24 nerve sites using high-resolution nerve ultrasound, was compared with data obtained from 20 healthy volunteers. RESULTS: All the patients had a severe sensory axonal neuropathy. High-resolution nerve ultrasound showed significant increase, in cross sectional area, of median and ulnar nerves at the axilla and arm. The cumulative count of affected nerve sites was directly associated with clinical disability, as determined by SARA, FARS, mFARS, ADL 0-36, and INCAT score, while displaying an inverse correlation with IADL. CONCLUSIONS: Our study shows that high-resolution ultrasound reveals notable nerve abnormalities, primarily in the upper limbs of patients diagnosed with Friedreich's Ataxia. The observed correlation between these nerve abnormalities and clinical disability scales indicates the potential use of this technique as a biomarker for evaluating disease severity and treatment effects. SIGNIFICANCE: Nerve Ultrasound is a potential biomarker of disease severity in Friedreich's Ataxia.

[Algorithm for assessment of exposure to asbestos]. / Proposta di algoritmo per la valutazione stimata dell'esposizione lavorativa ad amianto.

There is no universally approved method in the scientific literature to identify subjects exposed to asbestos and divide them in classes according to intensity of exposure. The aim of our work is to study and develope an algorithm based on the findings of occupational anamnestical information provided by a large group of workers. The algorithm allows to discriminate, in a probabilistic way, the risk of exposure by the attribution of a code for each worker (ELSA Code--work estimated exposure to asbestos). The ELSA code has been obtained through a synthesis of information that the international scientific literature identifies as the most predictive for the onset of asbestos-related abnormalities. Four dimensions are analyzed and described: 1) present and/or past occupation; 2) type of materials and equipment used in performing working activity; 3) environment where these activities are carried out; 4) period of time when activities are performed. Although it is possible to have informations in a subjective manner, the decisional procedure is objective and is based on the systematic evaluation of asbestos exposure. From the combination of the four identified dimensions it is possible to have 108 ELSA codes divided in three typological profiles of estimated risk of exposure. The application of the algorithm offers some advantages compared to other methods used for identifying individuals exposed to asbestos: 1) it can be computed both in case of present and past exposure to asbestos; 2) the classification of workers exposed to asbestos using ELSA code is more detailed than the one we have obtained with Job Exposure Matrix (JEM) because the ELSA Code takes in account other indicators of risk besides those considered in the JEM. This algorithm was developed for a project sponsored by the Italian Armed Forces and is also adaptable to other work conditions for in which it could be necessary to assess risk for asbestos exposure.

Sigmoidorectal intussusception in adults: a case report.

A 75-year-old women was admitted to our hospital due to anal bleeding from 5 days. At clinical examination abdomen was soft but tenderness in the lower quadrants, where a soft, mobile, round mass measuring 10 cm in diameter was palpable. CT scan demonstrated the presence of sigmoido-rectal intussusception. The patient underwent emergency anterior resection of rectum with stapled termino-terminal colo-rectal anastomosis. Postoperative course was uneventful and the patient was discharged 7 days after the operation. Histopathological examination demonstrated a tubular adenoma with low grade dysplasia, 1,2 cm in diameter, located in the distal sigmoid colon. Intussusception is a rather common pediatric condition that rarely presents in adults. Adults intussusception represents 5% of all cases of intussusception. In children it is usually primary and benign, and pneumatic or hydrostatic reduction of the intussusception is sufficient to treat the condition in 80% of patients. In contrast a demonstrable etiology is found in 70% to 90% of cases in adults, and approximately 40%-50% of them are caused by malignant neoplasms. Surgical intervention is necessary in all cases of intussusception in adults. Due to the low incidence and the rare consideration given to this condition among adults the preoperative diagnosis can be difficult, especially in emergency cases. Abdominal CT provides the most accurate diagnostic rate for intestinal intussusception.

[Meta-analysis of respiratory function of workers exposed to asbestos]. / Meta-analisi sulla funzionalità respiratoria nei lavoratori esposti ad amianto.

The monitoring of health conditions in workers exposed to asbestos for prolonged periods is a problematic issue. The Occupational Health physician being required to carry out his activity of prevention of the medical consequences and protection of the workers can use various instruments among which there is the evaluation of lung function. We have performed a meta-analysis on the scientific evidence on this matter in order to identify significant alterations of the lung function parameters in subjects professionally exposed to asbestos compared with controls. By the means of a bibliographic search and the application of selected inclusion and exclusion criteria, we identified 21 articles presenting data from controlled studies. Our results show that the number of controlled trials is very small compared to the totality of studies performed on this matter (1 to 70 ratio) and that the number of the subjects included in the majority of the analyzed studies is oddly divided in the experimental and control group. For this and other reasons the analyzed studies are very heterogeneous. Despite these difficulties, the meta-analysis evidences that some parameters of respiratory functioning are more likely to be influenced by asbestos exposure taking into account the smoking habit and that other parameters are sinergically influenced by both asbestos exposure and smoking. Our meta-analysis points out the necessity to define a common methodology about the technical and operatives procedures in the evaluation of the effects on lung function measures determined by an occupational exposure to asbestos and a thorough examination of the intensity of abnormality levels that could allow using the values obtained from the above mentioned measures in a discriminating diagnostic way.

Carbohydrate-induced thermogenesis in liver cirrhosis: glucose vs. fructose.

Reduced thermic response after a glucose load has been reported in liver cirrhosis. To determine the mechanism and the site of this phenomenon, the effects of glucose and fructose on energy expenditure (EE) were measured in seven well-nourished cirrhotic patients and in six healthy control subjects. EE and fuel utilization were measured via indirect calorimetry for 3 h after oral glucose or fructose administration (1 g/kg body wt). After a glucose load, plasma glucose and insulin concentrations were higher in cirrhotic patients than in control subjects (p < 0.05). During the glucose trial, the cumulative incremental changes in EE over the 3-h measurement period were lower (p < 0.01) in patients than in the control subjects (0.98 +/- 0.13 vs. 1.70 +/- 0.23 kJ.kg-1.3 h-1). After fructose ingestion, the cumulative changes in the EE of control subjects (1.76 +/- 0.24 kJ.kg-1.3 h-1) and cirrhotic patients (1.59 +/- 0.15 kJ.kg-1.3 h-1) were similar. In cirrhotic patients, the EE increase after fructose was higher than after glucose (p < 0.05). After glucose and fructose ingestion, no difference was observed between the carbohydrate oxidation in cirrhotic patients and that in control subjects, and lipid oxidation was suppressed to the same extent in both groups. We conclude that glucose-induced thermogenesis is impaired in liver cirrhosis, whereas fructose can normalize the thermic response. Because fructose is chiefly metabolized in the liver, these findings suggest that extrahepatic tissues are the site of defective thermogenesis in liver cirrhosis.