We report a 6-day-old Japanese girl showing generalized erythroderma accompanied by yellowish,exfoliative scaling that was accentuated on the face and scalp.Histological analysis showed psoriasiform dermatitis with ac...We report a 6-day-old Japanese girl showing generalized erythroderma accompanied by yellowish,exfoliative scaling that was accentuated on the face and scalp.Histological analysis showed psoriasiform dermatitis with acanthotic epidermis and premature shedding of the stratum corneum.Measurement of trypsin-like hydrolytic activity in SC showed six-fold greater activity compared with age-matched controls.DNA analysis revealed two mutations,375delAT and 966insC,in exons5 and 11,respectively,of the SPINK5 gene.Although at 4 weeks the child was still too young to display characteristic hair abnormalities or atopic diathesis,we diagnosed Netherton syndrome based on enzyme assay and DNA analysis.展开更多
8-Hydroxydeoxyguanosine (8-OHdG) has been used to evaluate oxidative stress. The authors investigated urinary 8-OHdG levels in 72 patients with Parkinson d isease (PD) and in normal and disease control groups. The mea...8-Hydroxydeoxyguanosine (8-OHdG) has been used to evaluate oxidative stress. The authors investigated urinary 8-OHdG levels in 72 patients with Parkinson d isease (PD) and in normal and disease control groups. The mean urinary 8-OHdG i ncreased with the stage of PD and was not influenced by the current dose of DOPA . Our results suggest that urinary 8-OHdG is a potentially useful biomarker for evaluating the progression of PD.展开更多
We report a 6- month- old Japanese boy showing ichthyosis linearis circumflexa localized on the palms and soles. He showed bamboo hairs and aminoaciduria, and was positive for cow’ s milk and egg IgE antibodies by ra...We report a 6- month- old Japanese boy showing ichthyosis linearis circumflexa localized on the palms and soles. He showed bamboo hairs and aminoaciduria, and was positive for cow’ s milk and egg IgE antibodies by radioallergosorbent tests. Trypsin- like hydrolytic activity in the patient’ s lesional stratum corneum showed an activity seven times higher than that in age- matched controls. DNA analysis showed that the patient harboured the compound heterozygous mutations R790X and 1220+ 1 G → C in the SPINKS gene, compatible with the diagnosis of Netherton syndrome (NS). As the genotype/phenotype correlations in NS have not yet been fully clarified, the position of the premature termination codon in the SPINK5 gene may contribute to explain such a mild form of NS in our patient.展开更多
文摘We report a 6-day-old Japanese girl showing generalized erythroderma accompanied by yellowish,exfoliative scaling that was accentuated on the face and scalp.Histological analysis showed psoriasiform dermatitis with acanthotic epidermis and premature shedding of the stratum corneum.Measurement of trypsin-like hydrolytic activity in SC showed six-fold greater activity compared with age-matched controls.DNA analysis revealed two mutations,375delAT and 966insC,in exons5 and 11,respectively,of the SPINK5 gene.Although at 4 weeks the child was still too young to display characteristic hair abnormalities or atopic diathesis,we diagnosed Netherton syndrome based on enzyme assay and DNA analysis.
文摘8-Hydroxydeoxyguanosine (8-OHdG) has been used to evaluate oxidative stress. The authors investigated urinary 8-OHdG levels in 72 patients with Parkinson d isease (PD) and in normal and disease control groups. The mean urinary 8-OHdG i ncreased with the stage of PD and was not influenced by the current dose of DOPA . Our results suggest that urinary 8-OHdG is a potentially useful biomarker for evaluating the progression of PD.
文摘We report a 6- month- old Japanese boy showing ichthyosis linearis circumflexa localized on the palms and soles. He showed bamboo hairs and aminoaciduria, and was positive for cow’ s milk and egg IgE antibodies by radioallergosorbent tests. Trypsin- like hydrolytic activity in the patient’ s lesional stratum corneum showed an activity seven times higher than that in age- matched controls. DNA analysis showed that the patient harboured the compound heterozygous mutations R790X and 1220+ 1 G → C in the SPINKS gene, compatible with the diagnosis of Netherton syndrome (NS). As the genotype/phenotype correlations in NS have not yet been fully clarified, the position of the premature termination codon in the SPINK5 gene may contribute to explain such a mild form of NS in our patient.
