Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the extremities and caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene. We screened 14 unrelated families or sporadic cases for mutation in the full coding sequence of this gene. Eight novel heterozygous mutations of ADAR1 and four known mutations were identified, including four missense mutations (p.R26K, p.Y1192D, p.R916Q, p.R1155W), six frameshift mutations (p.N205fsX217, p.V211fsX217, p.V404fsX417, p.I914fsX927, p.L1053fsX1076, p.L1070fs1092), and two nonsense mutations (p.R474X, p.R1096X). Interestingly, we failed to detect any mutations of ADAR1 in one family. Including our data, there are now 93 different mutations reported in 105 independent patients that we have tabulated. From the review of clinical features in these reports, we found that the same mutation could lead to different phenotypes even in the same family and did not establish a clear correlation between genotypes and phenotypes. Finally this study is useful for functional studies of the protein and to define a diagnostic strategy for mutation screening of the ADAR1 gene.
ABSTRACT. Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant cutaneous disorder, characterized by a mixture of hyperpigmented and hypopigmented macules mostly on the dorsal portions of the extremities. Pathogenic mutations have been identified in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene. We studied a Chinese family that included four affected individuals with DSH phenotypes. PCR and direct sequencing were carried out to detect the entire coding region and exon-intron boundaries of the DSRAD gene. A novel nucleotide c.3002G>T missense mutation in the exon 11 of the DSRAD gene was detected in the proband and his father. This information expands the database on DSRAD gene mutations associated with DSH.
Spectrum sensing is one of the key tasks in cognitive radio. This paper proposes a fast two-step energy detection (FED) algorithm for spectrum sensing via improving the sampling process of conventional energy detection (CED). The algorithm adaptively selectsN-point or 2N-point sampling by comparing its observed energy with prefixed double thresholds, and thereby is superior in sampling time and detection speed. Moreover, under the constraint of constant false alarm, this paper optimizes the thresholds from maximizing detection probability point of view. Theoretical analyses and simulation results show that, compared with CED, the proposed FED can achieve significant gain in detection speed at the expense of slight accuracy loss. Specifically, within high signal-to-noise ratio regions, as much as 25% of samples can be reduced.
to UVA exposure. Treatment fluence was 0.20 J, with an increase of 0.20 J per treatment as tolerated. Topical therapy included pimecrolimus cream nightly and sodium sulfacetamide cleanser twice daily. After 13 treatments with PUVA, she reached a dose of 2.6 J per treatment with excellent repigmentation of the affected areas (Fig. 2).Three months after discontinuation of PUVA therapy, the patient had a mild recurrence of the hypopigmentation of the eyebrow area and topical PUVA was restarted twice weekly resulting in excellent repigmentation. PUVA therapy was slowly tapered and finally discontinued after 5 months. Two years later, she was doing well, with normal pigmentation of the previously affected areas.Despite adequate control of inflammation, post-inflammatory hypopigmentation from seborrheic dermatitis can be a vexing problem, particularly in patients with darker skin types. Current treatment strategies for post-inflammatory hypopigmentation include topical corticosteroids and immunomodulators, cosmetic cover-ups, topical or oral PUVA, narrow band ultraviolet B and excimer lasers. 1-5 Topical PUVA therapy has been used for postinflammatory hypopigmentation because of pityriasis versicolor and pityriasis alba. However, to our knowledge, the use of topical PUVA specifically for post-inflammatory hypopigmentation secondary to seborrheic dermatitis has not been previously reported. Further, larger studies using topical PUVA should be performed to determine the true efficacy of this treatment modality. References1 Halder RM, Richards GM. Management of dyschromias in ethnic skin. Dermatol Ther, 2004; 17: 151-157. 2 High WA, Pandya AG. Pilot trial of 1% pimecrolimus cream in the treatment of seborrheic dermatitis in African American adults with associated hypopigmentation.
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