Biochemical and molecular aspects of human mitochondrial respiratory chain disorders.
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Electron Transport Complex II↗
Biomedical subjects
A Toscano
Publications and source records attributed to A Toscano.
Peripheral neuropathy in amyotrophic chorea-acanthocytosis.
We investigated involvement of the peripheral nervous system in 6 patients with amyotrophic chorea-acanthocytosis. Electromyographic and neurographic findings, and pathological changes as demonstrated by examination of biopsy specimens of muscle and sural nerve indicate that most patients had an axonal sensorimotor polyneuropathy with more pronounced involvement of the distal portion of the nerves. Results obtained in one patient raised the question of an anterior horn cell disorder.
Acanthocytes↗
Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA.
Analysis of mitochondrial DNA (mtDNA) in muscle and blood from 72 patients with mitochondrial myopathy showed that 30 had major deletions of a variable proportion of muscle mtDNA. All of these 30 patients presented with progressive external ophthalmoplegia and limb weakness, and 8 had the additional features of the Kearns-Sayre syndrome. Of the 42 patients without detectable muscle mtDNA deletions, 10 had progressive external ophthalmoplegia and limb weakness, 2 had the Kearns-Sayre syndrome, 11 had limb weakness without extraocular involvement, and 19 had multisystem disorders predominantly affecting the central nervous system. Only 2 patients with mtDNA deletions had clinically affected relatives, compared with 10 of those without deletions. In the 4 patients with polarographic defects exclusively involving complex I (NADH coenzyme Q reductase), the deleted protein-coding genes were confined to those for complex I subunits. Thirteen other patients with apparently identical deletions had variable clinical and biochemical features. Immunoblots of complex I polypeptides from patients with deletions were either indistinguishable from controls or showed only a mild generalized decrease in all identifiable subunits.
Adult↗
Prevalence survey of major neurological disorders in Sicily. Results of a pilot study.
A pilot study on the prevalence of neurological disorders in Sicily was carried out with a protocol never previously used in Italy. A screening questionnaire was administered to 1,601 subjects of a community, designed to identify patients with cerebrovascular diseases, epilepsy, extrapyramidal syndromes, peripheral neuropathies, migraine and intracranial neoplasms. Of 262 subjects who were identified as likely to be suffering from neurological illness, 248 (94.6%) were examined by a neurologist. Of these, 8.9% were found to be normal, 46.8% were suffering from non-neurological diseases, 44.3% had one or more neurological diseases (prevalence of 6.8%). This pilot study proved to be a good starting-point for a future major survey.
Adolescent↗
Effect of ACTH4-10 on nerve fiber regeneration after sciatic nerve crush in rabbits: an electrophysiological and morphological study.
Crush of sciatic nerve in rabbits supported by morphologic and electrophysiologic data was used to evaluate the effects of ACTH4-10 on nerve fiber regeneration. Treated animals showed a statistically significant higher regeneration rate than did control rabbits. Fiber density and mean diameters of myelinated nerve fibers were measured in semithin nerve sections at 1 and 3 cm distal from the crushed point at three different time points. Nerve fiber density results were higher in ACTH4-10-than in vehicle-treated rabbits. This difference showed an unequivocal trend and attained a statistically significant level in the sections 3 cm distal from the crush. ACTH4-10 seemed therefore to have a beneficial effect on nerve fiber regeneration.
Adrenocorticotropic Hormone↗
Comparative analysis of autonomic and somatic dysfunction in chronic uraemia.
The relationship between autonomic dysfunction and peripheral somatic neuropathy was investigated in uraemics. The battery of autonomic tests included R-R interval variation test, deep breathing, Valsalva manoeuvre, heart rate and blood pressure responses to standing, and sustained handgrip. Maximum conduction velocity along sensory and motor fibres of the posterior tibial nerve was measured. An impairment of parasympathetic reflexes was more frequent than a sympathetic damage, but with no relationship to the degree of electrophysiological disturbances. Cardiovascular autonomic dysfunction and somatic neuropathy in uraemia result to be two different entities in incidence and perhaps in pathogenesis.
Adult↗
[Fissure sealants. 3 years experience in the E.S.M.D.L. oral hygiene course. Preliminary results].
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Adolescent↗
Cardiovascular reflex tests. Assessment of age-adjusted normal range.
To assess the relationship between aging and autonomic control of heart rate and blood pressure, cardiovascular reflex tests were performed in 70 healthy volunteers in the age range 25-71 years. R-R interval variation, heart rate change with deep breathing, 30/15 ratio and blood pressure response to standing appeared significantly declining with age. For each test we calculated the P0.99 and P0.01 confidence limits for individual observations. On the other hand, Valsalva ratio and the blood pressure response to sustained handgrip appeared to be unrelated to age. These results suggest that there is an age-dependent degradation of the mechanisms involved in the cardiovascular reflexes. The assessment of age-adjusted normal values improves the criteria for delineating abnormal from normal results in individual testing of autonomic function.
Adult↗
[Calcium and endocrine pancreas secretion. II. Effects of an infusion of calcium on insulin and glucagon secretion induced by intravenous administration of glucose].
IRI, IRG and blood glucose levels after I.V.G.T.T. in normal subjects were not significantly modified when I.V.G.T.T. was repeated during a prolonged calcium infusion (15 mg/Kg body weight per 90'). The Authors advance the hypothesis that no closed relationships exist between serum calcium levels and insulin secretion, in these experimental conditions; with regard to glucagon secretion, further experiences are of course required namely during alpha-cell stimulation.
Adult↗
Age and gender effects on the diagnostic power of the DST.
Among 365 major and 158 minor depressive inpatients, the dexamethasone suppression test (DST) yielded an overall diagnostic sensitivity of 50%, a specificity of 85%, and a confidence level of 88%. Age was significantly correlated with the post-dexamethasone cortisol levels in the whole sample (r = 0.11; P less than 0.01); however, this low relationship disappeared when all subgroups defined by gender or diagnostic were considered. Gender did not appear to influence DST results; however, among the patients between 30 and 39 years, the diagnostic performance of the DST was significantly lower among female as compared to male patients, suggesting possible interferences with endocrine variables.
Adult↗
Anatomic patterns of conotruncal defects associated with deletion 22q11.
PURPOSE: Patients with cardiovascular malformations (CVMs) and deletion 22q11 from our series were studied in order to (1) analyze the association with dysmorphic features and noncardiac anomalies, (2) identify specific cardiac patterns and the distinctive association with additional CVMs. METHODS: From 1993 to 2000, 931 patients with CVM (95 with a clinical diagnosis of DiGeorge/velocardiofacial syndrome (DG/VCFS), 208 with different genetic syndromes, 628 without dysmorphic features) underwent accurate cardiac assessment, clinical and phenotypical examination, and screening for deletion 22q11 by fluorescence in situ hybridization (FISH). RESULTS: Deletion 22q11 was detected in 88 of the total patients, and in 87 of the 95 patients with a clinical diagnosis of DG/VCFS. Only one patient among the 628 without dysmorphic features had deletion 22q11. Conotruncal heart defects were the most common CVMs, often presenting in association with additional anomalies in four areas of the cardiovascular system: (1) the aortic arch can be right sided, cervical, double, and the subclavian artery can be aberrant, (2) the pulmonary arteries can present discontinuity, diffuse hypoplasia, discrete stenosis, defect of arborization and major aortopulmonary collateral arteries (MAPCA), (3) the infundibular septum can be malaligned, hypoplastic, or absent, (4) the semilunar valves can be bicuspid, severely dysplastic, insufficient, or stenotic. CONCLUSION: In subjects with deletion 22q11 CVM is virtually always associated with one or more noncardiac anomalies. Deletion 22q11 is exceptionally rare in children with nonsyndromic CVMs. Specific patterns of CVMs are observed in patients with deletion 22q11, including (1) anomalies of the aortic arch, (2) anomalies of the pulmonary arteries and of the pulmonary blood supply, (3) defects of the infundibular septum, (4) malformations of the semilunar valves. These additional CVMs may influence the surgical treatment of these patients.
Abnormalities, Multiple↗
[The immunopathology of type I diabetes mellitus].
The onset of type I diabetes is preceded by a prodromic phase during which, despite the absence of symptoms, the beta-cell mass decreases as a result of an autoimmune process. In this review we discuss the importance of environmental and genetic factors, and abnormalities of humoral and cellular immunity in the development of autoimmune process toward pancreatic beta cells. The resulting immunological network involves monocytes activation, interleukin-1 secretion, T-lymphocyte activation, secretion of interleukin-2 and other lymphokines which activate cytotoxic cells to induce beta-cell lysis.
Autoimmune Diseases↗
A new case of Ullrich's disease.
A new case of congenital, hypotonic-sclerotic muscular dystrophy is presented. The patient showed congenital hyperlaxity and looseness of distal joints, muscle weakness, and spur-like protrusion of the calcaneus. Afterwards rapid progressive contractures of both knees and hip joints developed. Muscle biopsies revealed unequivocal dystrophic abnormalities and small atrophic fibers with numerous foldings of basal lamina suggestive of a neurogenic lesion. The disease presents clinical variability but the diagnosis is possible when a newborn shows: no dominant family history, slender body, marked distal joint laxity and hyperflexibility, proximal joint contractures and normal or slightly increased serum enzymes.
Child, Preschool↗
Autonomic nervous system dysfunction in chronic uraemics on haemodialysis.
A battery of cardiovascular reflex tests were performed in 35 patients with chronic renal failure on intermittent haemodialysis. An impairment of parasympathetic control was found isolated (14%) or combined with a damage of sympathetic control of cardiovascular system (26%). Moreover, maximum conduction velocity along sensory and motor fibres of posterior tibial nerve was measured in 21 patients. Autonomic dysfunction and somatic neuropathy did not appear strictly related.
Adult↗
Hypokalemic myopathy in pseudohyperaldosteronism induced by fluoroprednisolone-containing nasal spray.
A man who was using 9-alpha-fluoroprednisolone-containing nasal spray preparation for allergic rhinitis developed a pseudohyperaldosteronism and an acute hypokalemic myopathy. Muscle biopsy changes included variation in fiber size with preserved type 2a fibers, necrosis, phagocytosis and regeneration. This factitious mineralocorticoid excess syndrome, induced by uncontrolled use of intranasally administered steroid, should be considered among the various causes of hypokalemic myopathy.
Administration, Intranasal↗
Uremic vagal neuropathy: has parathyroid hormone a pathogenetic role?
Cardiac vagal reflexes were investigated in 19 dialysis patients, with the aim of verifying whether parathyroid hormone, proposed as an important uremic neurotoxin, plays a role in the development of uremic vagal neuropathy. The results indicate that parasympathetic control of heart function is frequently impaired in uremics. Plasma parathyroid hormone levels were significantly correlated with the time on dialysis. However, a correlation between autonomic disturbances and plasma parathyroid hormone concentrations was not found in this study.
Adult↗
Ultrasound biomicroscopy and corneal endothelium in Nd:YAG-laser iridotomy.
BACKGROUND AND OBJECTIVE: Thirty eyes affected by angle-closure glaucoma that had undergone YAG-laser iridotomy were studied to evaluate variations of central anterior chamber depth, width of the angle, and loss of endothelial cells after laser treatment. PATIENTS AND METHODS: These parameters were determined before and after iridotomy: endothelial cell count using a "non-contact" specular biomicroscope, and anterior chamber depth and angle width using ultrasound biomicroscopy (UBM). The width of the iridotomy and the distance of the iridotomy from the scleral spur and from the corneal endothelium were also measured by UBM, after laser treatment. RESULTS: Results confirmed that, after iridotomy, there is not a significant variation in the central depth of the anterior chamber: it goes from 2.02 mm pre-laser to 2.07 +/- 0.38 mm post-laser. There is, however, a statistically significant increase in the angle (P < .001), which goes from 10.69 +/- 8.88 degrees (0.109 +/- 0.07 mm) to 21.03 +/- 11.28 degrees (0.183 +/- 0.09 mm). The mean dimension of the iridotomies was 0.46 +/- 0.13 mm. The mean endothelial cell count was 55.8 +/- 4.08 cells per linear millimeter before laser treatment and 47.01 +/- 5.39 cells per linear millimeter afterward (P <.001). CONCLUSION: This study confirms that YAG-laser iridotomy leads to a reduction in the average endothelial cell density. The loss of these cells is inversely proportional to the distance of the iridotomy from the endothelium and the scleral spur.
Anterior Chamber↗