ABSTRACT
INTRODUCTION: McArdle disease, or glycogen storage disease type V (GSD 5), is a rare metabolic myopathy linked to an autosomal recessive myophosphorylase deficiency. CASE REPORT: We report the case of a 17-year-old male patient who was referred to the emergency department for the management of acute inflammatory low back pain, without traumatic context, associated with an increase of CK at 66,336 UI/L (N<192UI/L) and a CRP at 202mg/L. The immunological assessment was negative and the spinal MRI showed images in favor of necrotizing fasciitis affecting the erector spinae muscles, among others. Faced with the description of difficulties in practicing physical activities since childhood and a non-ischaemic forearm exercise test showing no elevation in lactacidemia, genetic tests were carried out, finding two heterozygous variants in the PYGM gene: c.1963G>A (p.Glu655Lys) class 5 and c.2178-1G>A class 4, confirming the diagnosis of McArdle disease. DISCUSSION: GSD 5 is a disease characterized essentially by muscular fatigability during exercise. The case reported here is original in the clinical circumstances leading to the diagnosis, i.e., inaugural acute low back pain with rhabdomyolysis. This symptomatology had already been described before, but in a patient whose diagnosis was already known. Spinal MRI showed non-specific muscle inflammation and necrosis. Muscle biopsy only found necrosis but no pathological elements typical of the diagnosis. If the symptoms are suggestive, it may be preferable to directly perform a non-ischaemic forearm exercise test, in order to go directly to molecular genetic analysis. There is no specific curative treatment of GSD 5. However, some measures can be implemented to limit the symptoms, such as learning physical exercises, limiting intense efforts and adopting dietary recommendations.
Subject(s)
Glycogen Storage Disease Type V , Low Back Pain , Humans , Glycogen Storage Disease Type V/diagnosis , Glycogen Storage Disease Type V/complications , Glycogen Storage Disease Type V/genetics , Male , Low Back Pain/etiology , Low Back Pain/diagnosis , Adolescent , Acute DiseaseABSTRACT
Seasonal variations of solar UVB (285-320 nm) and UVA (320-400 nm) were measured in three sites in Syria (33-37 N degrees) for 2 y: 1992-1993. UVB measurements were performed using polysulphone films and Robertson-Berger meters, while UVA measurements were done by a UVA intensity meter. Two sets of measurements were carried out: 1) Maximal daily doses 3 times per week (every other day); and 2) Diurnal variations from sunrise to sunset, every 1 h, twice per month (every fortnight).
Subject(s)
Neoplasms, Radiation-Induced/etiology , Ultraviolet Rays , Humans , Membranes, Artificial , Neoplasms, Radiation-Induced/epidemiology , Polymers , Seasons , Skin Neoplasms/etiology , Sulfones , Syria/epidemiologyABSTRACT
The red-shift of furocoumarin action spectra, compared with their absorption spectra, has been investigated. An action spectrum for 8-methoxypsoralen (8-MOP) monoadduct formation in the yeast Candida albicans has been determined. The yeast cells were initially exposed to sublethal doses of monochromatic UVA at different wavelengths. Monoadduct formation was monitored by growth inhibition induced, after washing out any unbound 8-MOP, by re-irradiation with a constant second (non-lethal) dose of 330 nm radiation. A comparison between this action spectrum and the absorption spectrum of the dark complex of 8-MOP and DNA was made. In addition, the action spectra of monoadduct formation of five monofunctional compounds including a coumarin derivative have been determined. These action spectra were compared with their respective DNA dark complex absorption spectra. In general, the peaks of the furocoumarin DNA dark complexes show a red-shift when compared with the free furocoumarin molecule and the action spectra show peaks which correspond with the peaks of the dark complexes. Such data indicate that the DNA dark complex is the chromophore for growth inhibition in yeast rather than the free furocoumarin. The similarity of the 8-MOP monoadduct formation action spectrum and 8-MOP action spectra suggests that spectral dependence for the photobiological effects (including the red-shift) is dependent on monoadduct formation rather than, as previously suggested by several authors, crosslink formation. The action spectrum for the coumarin derivative 4-methyl N-ethylpyrrolo (3,2-g) coumarin (PCNEt) correlated well with the free molecule absorption spectrum rather than DNA dark complex indicating that the free molecule is the chromophore.(ABSTRACT TRUNCATED AT 250 WORDS)
Subject(s)
Candida albicans/drug effects , DNA, Fungal/drug effects , Furocoumarins/pharmacology , Methoxsalen/pharmacology , Ultraviolet Rays , Candida albicans/growth & development , Candida albicans/radiation effects , DNA, Fungal/radiation effects , Dose-Response Relationship, RadiationABSTRACT
With the aim of finding new photoactive compounds that may reduce the side effects of 8-methoxypsoralen photochemotherapy we report on some photophysical, photochemical and photobiological properties of recently synthesized pyrrolocoumarins, in particular 4-methyl-N-ethyl-pyrrolo[3,2-g]coumarin (PCNEt) which has an absorption maximum in the UV-A (320-400 nm). Laser (347 nm) flash photolysis studies showed triplet transients that were quenched by O2 and by ground state PCNEt. Singlet minus triplet spectra were broad (350-550 nm) and, at 700 nm, indicated solvated electron and radical production. PCNEt complexes with DNA in the dark and photobinds to thymine but does not form DNA cross-links. PCNEt was phototoxic in yeast with an action spectrum similar to its absorption spectrum. PCNEt showed photohaemolytic activity but was not phototoxic on guinea pig skin. These data suggest that PCNEt may photosensitize via several mechanisms: direct DNA photobinding, photodynamic action, or photoproduction of radicals.