Impact of comorbid allergic diseases on health-related quality of life of Hong Kong schoolchildren.

BACKGROUND: Studies on the relationship between childhood allergic disease and health-related quality of life (HRQOL) have mostly been confined to a single allergic condition. Therefore, a composite allergic score (CAS) was derived to assess the accumulated effect of eczema, asthma, and allergic rhinitis on HRQOL in Hong Kong schoolchildren. METHODS: Parents of grade one/two or grade eight/nine schoolchildren completed a questionnaire assessing the prevalence and severity of eczema (POEM), asthma (C-ACT/ACT), and allergic rhinitis (VAS) and schoolchildren's HRQOL (PedsQL). Three rounds of recruitment were conducted. A total of 19 primary and 25 secondary schools agreed to participate. RESULTS: Data from 1140 caregivers of grade one/two schoolchildren and 1048 grade eight/nine schoolchildren were imputed and analyzed. The proportion of female respondents were lower in grade one/two (37.7%) but higher in grade eight/nine (57.3%). 63.8% of grade one/two and 58.1% of grade eight/nine schoolchildren reported having at least one allergic disease. In general, greater disease severity was significantly associated with lower HRQOL. After controlling for age, gender, and allergic comorbidity in hierarchical regressions, CAS significantly predicted all HRQOL outcomes in both grade one/two and grade eight/nine schoolchildren. Female grade eight/nine schoolchildren reported lower HRQOL outcomes. CONCLUSION: Composite allergic score may be a practical tool to evaluate allergic comorbidity and the effectiveness of treatments targeting common pathological mechanisms of allergic diseases. Non-pharmaceutical approaches should be considered, especially for patients with more than one allergic disease and greater severity.

Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria.

INTRODUCTION: Variegate porphyria (VP; OMIM 176200) is one of the acute hepatic porphyrias, and it is characterized by the partial deficiency of protoporphyrinogen oxidase (PPOX). The unusual homozygous variant with mutations on both alleles of PPOX is distinguished with general heterozygous VP by several typical points such as severe defect in PPOX enzyme activity, early onset of photosensitivity before puberty, and skeletal deformity. MATERIAL AND METHOD: In this study, we describe a very rare case of autosomal recessive form of true homozygous VP found in a Chinese patient with consanguineous parents. Sanger sequencing of the PPOX gene showed a novel homozygous variant located at the first base of exon 8 of the gene, i.e., NM_000309.3c.808G > T. To investigate aberrant splicing induced by the mutant, wild-type exon 8 and mutant exon 8 were expressed in pET01 vector as minigene in cultured-cells and analyzed by RT-PCR. RESULTS: The wildtype PPOX showed an expected band in the gel electrophoresis after RT-PCR. The PPOX c.808G > T only showed a band similar to the band size of the vector only control. This result suggested c.808G > T mutant is an exonic mutation inducing aberrant splicing of pre-mRNA of the PPOX gene. CONCLUSION: This study showed a very rare case of homozygous VP with autosomal recessive homoallelic pattern. In comparison with previous cases of homozygous VP presenting brachydactyly, it is notable that our patient did not have any skeletal deformities.

Cupping Therapy May be Harmful for Eczema: A PubMed Search.

Eczema is a common childhood atopic condition and treatment is with emollients, topical corticosteroids, and avoidance of possible triggers. S. aureus colonization is a common complication. As there is no immediate cure, many parents seek alternative therapies that claim unproven therapeutic efficacy. We report a girl with long history of treatment noncompliance. After practicing a long period of dietary avoidance and supplementation, the grandparents took her to an alternative medicine practitioner. Following cupping therapy and acupuncture, the child developed blistering and oozing over her back the next day, which rapidly evolved to two large irregular-edge deep ulcers. She was treated with intravenous antibiotics and received multidisciplinary supportive intervention. Using search words of "cupping," "eczema," and "atopic dermatitis," only two reports were found on PubMed. Therapeutic efficacy was claimed but not scientifically documented in these reports. Childhood eczema is an eminently treatable atopic disease. Extreme alternative therapy seems not to be efficacious and may even be associated with serious undesirable sequelae. Physicians should be aware of various alternative treatment modalities and be prepared to offer evidence-based advice to the patients with eczema and their families.