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15 резултата
Waste nitrogen excretion via amino acid acylation: benzoate and phenylacetate in lysinuric protein intolerance.
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Benzoate and phenylacetate improve prognosis in inherited urea cycle enzyme deficiencies by increasing waste nitrogen excretion as amino acid acylation products. We studied metabolic changes caused by these substances and their pharmacokinetics in a biochemically different urea cycle disorder,
An inhaled phosphodiesterase 4 inhibitor E6005 suppresses pulmonary inflammation in mice.
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Chronic obstructive pulmonary disease (COPD) is a progressive lung disease associated with significant morbidity and mortality. Although several oral phosphodiesterase 4 (PDE4) inhibitors have been developed for the treatment of COPD, their use has been restricted because of side effects including
[Late-onset type ornitine transcarbamirase deficiency (OTCD) with fulminant onset following a fatal prognosis].
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A 16-year-old man was admitted to our hospital with nausea, general fatigue, and consciousness disturbance along with extreme hyperammoniemia eight days after the onset of symptoms. Familial history and the high concentration of orotic acid in urine lead us to a diagnosis of OTCD. We immediately
Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature.
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BACKGROUND
Ornithine transcarbamylase deficiency is the most common hereditary urea cycle defect. It is inherited in an X-linked manner and classically presents in neonates with encephalopathy and hyperammonemia in males. Females and males with hypomorphic mutations present later, sometimes in
Molecular and technical aspects on the interaction of serum albumin with multifunctional food preservatives.
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Synthetic food preservatives like sodium acetate (SA), sodium benzoate (SB), potassium sorbate (PS) and Butyl paraben (BP) have been widely used in food and pharmacy industries. One of the toxicological aspects of food additives is evaluation of their interaction with serum proteins such as albumin.
Sex steroids possess distinct stimulus properties in female and male mice.
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Very few studies have investigated the aversive properties of sex steroids in animals. We studied these properties by testing oestradiol-3-benzoate, testosterone-propionate and progesterone in a conditioned taste aversion set-up, in intact female and male mice. Oestradiol-3-benzoate induced a taste
Urinary excretion of angiotensin I, II, arginine vasopressin and oxytocin in patients with anaphylactoid reactions.
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Human urine samples, purified on octadecasilyl-silica cartridges, contained immunoreactive angiotensin I, II, arginine vasopressin and oxytocin. The daily excretion of these peptides in healthy volunteers was 190.00 +/- 38.43 (n = 12), 17.48 +/- 3.09 (n = 12), 63.43 +/- 14.84 (n = 8) and 13.52 +/-
[Abrupt onset and rapid deterioration in the course of congenital ornithine transcarbamylase deficiency: a case report].
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We report a 17-year-old female case of ornithine transcarbamylase (OTC) deficiency who died of brain edema due to hyperammonemic attack. The patient had a brother with OTC deficiency who had died of hyperammonemia at 17 years of age. She firstly had a symptom of headache, nausea, vomiting and
[Ornithine transcarbamylase deficiency in adolescence and adulthood: first manifestation with life-threatening decompensation].
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BACKGROUND
Ornithine transcarbamylase (OTC) deficiency is the most frequent innate disorder of the urea cycle and is X-chromosome linked. The disease normally manifests itself shortly after birth and is fatal when untreated. Due to the different expression and X-chromosomal inheritance the
Taste genetics and gastrointestinal symptoms experienced in chronic kidney disease.
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OBJECTIVE
It is unknown what causes uraemic symptoms in renal disease. Chronic kidney disease (CKD) patients are known to have increased levels of urea, sodium, potassium and phosphate in their saliva compared with those without renal disease. The present cross-sectional study investigated
A Case of Atypical Adult Presentation of Urea Cycle Disorder.
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Antipruritic effect of the topical phosphodiesterase 4 inhibitor E6005 ameliorates skin lesions in a mouse atopic dermatitis model.
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Phosphodiesterase (PDE) 4 inhibition is a well-known anti-inflammatory mechanism, but the development of PDE4 inhibitors has been hampered by side effects such as nausea and emesis. Local delivery of a PDE4 inhibitor to the site of inflammation may overcome these issues. The purpose of this study
[Effectiveness of FUT-175, protease inhibitor, as an anticoagulant to hemodialysis].
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(6-Amidino-2-naphthyl 4-guanidino benzoate) dimethanesulfonate (FUT-175), a protease inhibitor, has been reported to be an effective anticoagulant during hemodialysis without heparin. The anticoagulant activity of FUT-175 is also reported to be short. We applied FUT-175 to 33 patients who were
[Systemic adverse reactions with ivermectin treatment of scabies].
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BACKGROUND
Scabies is a common parasitic infestation and is very difficult to eradicate from institutions. Ivermectin is used extensively thanks to its efficacy and ease of use through oral administration; it was approved for the treatment of scabies in humans in 2001 in France. Most of the adverse
[A case of late-onset carbamoyl phosphate synthetase I deficiency, presenting periodic psychotic episodes coinciding with menstrual periods].
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Carbamoyl phosphate synthetase I deficiency (CPSID) is a rare metabolic disorder affecting the first enzymatic step of urea cycle. We report clinical manifestations of a female case of late-onset CPSID in Japan. An 18-year-old girl was admitted to emergency room due to acute comatose state. Her
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