3,142 research outputs found
Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease
No full textManagement of Anderson-Fabry disease (AFD) is contentious, particularly regarding enzyme replacement therapy (ERT). We report results of a Delphi consensus panel on AFD management
Different outcome in isovaleric acidemia might be related to unsatisfactory diet compliance
No full textThe issue of diet compliance in isovaleric acidemia is widely debated in this report
Successful pregnancy and breastfeeding in a woman with mucopolysaccharidosis type I while receiving laronidase enzyme replacement. therapy
No full textThe authors describe the first mother-infant pair to complete an on-going, prospective, open-label, Phase 4 trial (ALIU) UU3, NCT00418821) determining the safety of laronidase enzyme replacement therapy (ERT) in pregnant women with mucopolysaccharidosis type I (MPS I) and their breastfed infants. The mother, a 32-year-old with attenuated MPS I (Scheie syndrome), received laronidase for three years and continued treatment throughout her second pregnancy and while lactating. A healthy 2.5 kg male was delivered by elective cesarean section at 37 weeks. He was breastfed for three months. No laronidase was detected in breast milk. The infant never developed anti-laronidase IgM antibodies, never had inhibitory antibody activity in a cellular uptake assay, and always had normal urinary glycosaminoglycan (GAG) levels. No drug-related adverse events were reported. At 2.5 years of age, the boy is healthy with normal growth and development. In this first prospectively monitored mother-infant pair, laronidase during pregnancy and breastfeeding was uneventful
Influence of β-carotene on lysosomal hydrolases and their natural substrates in major salivary glands of hamsters treated with 7,12-dimethylbenzanthracene (DMBA)
No full textWe evaluated the effects of β-carotene, a precursor of vitamin A, on the activity of some lysosomal hydrolases and on the levels of their natural substrates in hamster major salivary glands during experimental oral 7,12-dimethylbenzanthracene (DMBA) carcinogenesis. Sixty-four hamsters (Cricetus auratus) were divided into four groups-group 1: untreated control; group 2: DMBA was painted three times a week in the left buccal pouch; group 3: β-carotene was painted three times a week in the left buccal pouch; group 4: DMBA and β-carotene were painted alternatively in the left buccal pouch. After 16 weeks, the animals were sacrificed and the activities of some lysosomal hydrolases and their natural substrates in the major salivary glands were measured. β-Carotene when administered topically in DMBA treated animals (group 4) reduced the levels of the majority of enzymes and substrates closer to those of the untreated control group, thus outlining a mild protective effect of β-carotene towards the DMBA carcinogenic stress. Nevertheless, the presence of some enzymes which responded negatively to the combined administration of DMBA and β-carotene suggests the necessity for future studies on the effect of β-carotene at different concentrations, the systemic administration and the possibility to combine the topical β-carotene administration with other chemopreventive drugs. © 2004 Elsevier Inc. All rights reserved
Urinary excretion of glycosaminoglycans in patients with isolated nocturnal enuresis or combined with diurnal incontinence
No full textOBJECTIVE:
To determine variations in the amount of glycosaminoglycans (GAGs) excreted by patients with nocturnal enuresis and/or diurnal incontinence.
PATIENTS, SUBJECTS AND METHODS:
The study included 27 patients (aged 5-15 years) with nocturnal enuresis and/or diurnal incontinence, and 27 healthy age-matched children. Their urinary GAG excretion was assessed over 24 h using the sodium tetraborate-carbazole method.
RESULTS:
Patients with nocturnal enuresis and/or diurnal incontinence had higher mean values of urinary GAG excretion than age-matched controls. There were significant differences in GAG excretion between those with nocturnal enuresis and diurnal incontinence and those with nocturnal enuresis alone.
CONCLUSIONS:
GAG excretion in patients with nocturnal enuresis and/or diurnal incontinence was significantly higher than in normal children, suggesting that measuring urinary GAGs may be useful in evaluating physiopathological conditions of the bladder wall, and hence in monitoring potential damage in the bladder mucosa
Influence of β-carotene on lysosomal hydrolases and their natural substrates in major salivary glands of hamsters treated with 7,12-dimethylbenzanthracene (DMBA)
No full textWe evaluated the effects of P-carotene, a precursor of vitamin A, on the activity of some lysosomal hydrolases and on the levels of their natural substrates in hamster major salivary glands during experimental oral 7,12-dimethylbenzanthracene (DMBA) carcinogenesis. Sixtyfour hamsters (Cricetus auratus) were divided into four groups-group 1: untreated control; group 2: DMBA was painted three times a week in the left buccal pouch; group 3: beta-carotene was painted three times a week in the left buccal pouch; group 4: DMBA and beta-carotene were painted alternatively in the left buccal pouch. After 16 weeks, the animals were sacrificed and the activities of some lysosomal hydrolases and their natural substrates in the major salivary glands were measured. beta-Carotene when administered topically in DMBA treated animals (group 4) reduced the levels of the majority of enzymes and substrates closer to those of the untreated control group, thus outlining a mild protective effect of beta-carotene towards the DMBA carcinogenic stress. Nevertheless, the presence of some enzymes which responded negatively to the combined administration of DMBA and beta-carotene suggests the necessity.for future studies on the effect of beta-carotene at different concentrations, the systemic administration and the possibility to combine the topical beta-carotene administration with other chernopreventive drugs. (C) 2004 Elsevier Inc. All rights reserved
Variations on the Author
No full text“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Linear atrophoderma of Moulin
No full textFirstly described by Moulin et al. in 1992 in 5 patients
[1], LAM is a distinct clinical entity characterized by
acquired atrophic bandlike skin lesions that often show
hyperpigmentation and always follow the lines of Blaschko.
No preceding infl ammation is noted, but a transient
infl ammatory stage is perhaps often unrecognized, and
there is no induration or scleroderma. Usually the condition
begins in childhood or adolescence, and there is
no evidence of any long-term progression. Histopathologically,
an irregular moderate hyperpigmentation of the
lower part of the epidermis is found, along with a few
perivascular lymphocytes in the dermis and slight thickening
of the collagen bundles, as in our case [2]. The
existence of LAM is controversial in its possible clinical
overlap with linear scleroderma or morphea. Nevertheless,
this latter is characterized by one or more linear
streaks of progressive induration that can extend through
the dermis, subcutaneous tissue, and muscle to the underlying
bone, causing signifi cant deformities [3]. The
lack of autoantibodies, such as ANA, found in 73% of
adult patients with linear scleroderma and the chronic and
unvaried course make this diagnosis unlikely in our patient,
leading to the more compatible diagnosis of LAM
[4]. The cause and pathogenesis of this disorder remain unclea
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