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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Rheumatology international 19 (2000), S. 165-169 
    ISSN: 1437-160X
    Keywords: Key words Raynaud's phenomenon ; Nerve conduction velocity ; Carpal tunnel syndrome ; Systemic sclerosis ; Polyneuropathy ; Median nerve
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A prospective study of upper limb nerve conduction velocity was performed in 39 subjects (9 males, 30 females, mean age 46.8 years) with idiopathic Raynaud's phenomenon (RP) and 18 patients (3 males, 15 females, mean age 49.9 years) with RP secondary to systemic sclerosis (SS). Five subjects with idiopathic RP (13%) showed slowing of sensory conduction velocity (SCV) of the distal median nerve, associated with delayed distal motor latency (DML) of the same nerve in three patients, without clinical signs or symptoms of carpal tunnel syndrome (CTS). Three patients with secondary RP (17%) had reduction of SCV of the distal median nerve, associated with increased DML of the same nerve in one and with clinically silent slowing of SCV of the ulnar nerve in two (11%). Mean distal SCVs of the median nerve were significantly lower and mean DMLs were significantly higher in both groups with respect to a control group. Mean distal conduction of the ulnar nerve was significantly slower only in the group with secondary RP. No slowing was observed in the proximal part of any nerve. It seems likely that patients with idiopathic RP have slowing of conduction in the distal part of the median nerve, along the carpal tunnel. Since slowing does not occur in all parts of the nerves of the hand, it cannot be related to acral vasomotor disturbances, but to local or systemic factors. In contrast, patients with secondary RP had slowing of median and ulnar nerve conduction velocity, presumably related to subclinical distal peripheral neuropathy. A nerve conduction study of the hand could be useful in cases of suspected secondary origin of RP. In idiopathic RP, slowing of conduction may only affect the median nerve, whereas in secondary RP it may affect other nerves of the hand.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1433-0350
    Keywords: Saethre-Chotzen syndrome ; EEG ; Seizures ; CT scan ; MRI
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Saethre-Chotzen syndrome is a form of acrocephalosyndactyly with autosomal dominant inheritance, characterized by craniosynostosis, facial asymmetry, palpebral ptosis, deviated nasal septum, partial cutaneous syndactyly, and various skeletal abnormalities. We studied in detail the neurological, EEG, and neuroradiological features of a group of 11 (6 male, 5 female) patients with Saethre-Chotzen syndrome. Four subjects were affected by seizures; they had paroxysmal EEG abnormalities, and gross neuroimaging revealed destructive brain lesions or malformations. Our findings suggest that CNS involvement in Saethre-Chotzen syndrome might be more severe than previously reported and support the wider use of neurophysiological and neuroimaging techniques in the study of children with this syndrome.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Chichester : Wiley-Blackwell
    Biological Mass Spectrometry 16 (1988), S. 285-288 
    ISSN: 1052-9306
    Keywords: Chemistry ; Analytical Chemistry and Spectroscopy
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Notes: Organic acidurias are a wide group of inherited metabolic diseases, sometimes with acute neonatal symptoms and life risk in the newborn. The clinical features are often not specific, but the pattern of urinary organic acids is diagnostic. Correct identification of metabolites and timely response are fundamental in this kind of work. Capillary gas chromatography/mass spectrometry (GC/MS) is now the reference method for separation, identification and quantification of organic acids. The analysis of urinary extracts (extraction is described in the text) is routinely carried out on an HP 5988A GC/MS system. Mass spectra are compared with a dedicated library and full spectra retrieved from positive samples. A new and interesting perspective is opened by infrared spectroscopy coupled with capillary GC. The method allows remarkable informations, complementary to mass spectra, on molecular structure. The sensitivity of equipment used for infrared (HP 5965 IRD) permits the use of the same capillary columns and analytical conditions for both GC/MS and GC/Fourier transform infrared. Our preliminary results show that the infrared detector can be used in organic acid analysis and can be useful, too, in identification of unknown metabolites, when mass spectral data are not sufficient.
    Additional Material: 5 Ill.
    Type of Medium: Electronic Resource
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