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Resolving Water, Proteins, and Lipids from In Vivo Confocal Raman Spectra of Stratum Corneum through a Chemometric Approach

Development of this in vivo confocal Raman spectroscopic method enables the direct measurement of water, proteins, and lipids with depth resolution in ...

Beijing Children's Hospital

Hydroa vacciniforme-like cutaneous lymphoma is a rare type of Epstein-Barr virus-associated lymphoma. We analyze clinicopathologic features of seven Chinese child patients with hydroa vacciniforme-like cutaneous lymphoma and determine the pathogenic association of Epstein-Barr virus with this disorder. Clinical, histologic, and immunohistochemical features were reviewed. Skin lesions were subjected to Epstein-Barr virus-encoded RNA detection by in situ hybridization. Serologic assay and quantitation of Epstein-Barr virus DNA were performed. All seven patients presented with facial vesicles, papulovesicles, and atrophic scarring. Histologically, skin specimens showed epidermal blister formation, and dense lymphoid infiltration throughout the dermis and subcutaneous tissue. The infiltrate was composed of both small and large irregular lymphocytic cells expressing CD45RO or CD56. Tumor cells positive for Epstein-Barr virus-encoded RNA were detected in cutaneous infiltrates in all seven cases. Besides skin eruptions, all patients had systemic manifestations, such as intermittent fever, hepatosplenomegaly or lymph node enlargement. The amounts of Epstein-Barr virus DNA were increased in the peripheral blood in two detected cases, and antibody titers to Epstein-Barr virus revealed a chronic active Epstein-Barr virus infection in all cases. The diagnosis of hydroa vacciniforme-like cutaneous lymphoma was made. Four of seven patients were treated with interferon α intramuscularly, and the skin eruptions improved. Hydroa vacciniforme-like cutaneous lymphoma may present with severe facial edema, papulovesicular eruptions and permanent scars. The tumor cells often express natural killer- or T-cell markers. The disease is often preceded by chronic active Epstein-Barr virus infection.

Epstein-Barr virus-associated hydroa vacciniforme-like cutaneous lymphoma in seven Chinese children.

The major pathogens of hand, foot and mouth disease (HFMD) in Beijing, China from 2007 to 2009 were identified in this study. A total of 186 HFMD cases were included, and 136 cases (73%) were positive for enterovirus (EV). In 2007, 75% (27/36) were Coxsackievirus A16 (CA16) positive and 19% (7/36) were Enterovirus 71 (EV71) positive cases. However, EV71 was the predominant virus in 2008, when 56% (31/55) of the cases were positive for EV71 and 22% (12/55) were positive for CA16. In 2009, EV71 and CA16, with positive rates of 36% (16/45) and 29% (13/45), respectively, were still the major pathogens of HFMD. Phylogenetic analysis revealed that the dominant genotype of EV71 was C4, with co-circulation of genotype A in 2009. The prevalent cluster of the EV71 subgenotype C4 changed over time. A proposed new sublineage of EV71, C4a-2, was the predominant virus associated with the Beijing and nationwide HFMD outbreaks since 2008 and amino acid substitution, which possibly link to the central nervous system tropism of EV71, was found in genotype A viruses. Persistent surveillance of HFMD-associated pathogens is required for predicting potential emerging viruses and related disease outbreaks.

Phylogenetic analysis of Enterovirus 71 circulating in Beijing, China from 2007 to 2009.

Aberrant nucleic acids generated during viral replication are the main trigger for antiviral immunity, and mutations that disrupt nucleic acid metabolism can lead to autoinflammatory disorders. Here we investigated the etiology of X-linked reticulate pigmentary disorder (XLPDR), a primary immunodeficiency with autoinflammatory features. We discovered that XLPDR is caused by an intronic mutation that disrupts the expression of POLA1, which encodes the catalytic subunit of DNA polymerase-α. Unexpectedly, POLA1 deficiency resulted in increased production of type I interferons. This enzyme is necessary for the synthesis of RNA:DNA primers during DNA replication and, strikingly, we found that POLA1 is also required for the synthesis of cytosolic RNA:DNA, which directly modulates interferon activation. Together this work identifies POLA1 as a critical regulator of the type I interferon response.

DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.

Prevalence of atopic dermatitis (AD) is increasing worldwide. Up to date, there has been no face-to-face nation-wide study in China. We aim to explore the prevalence of clinical diagnosed AD in children aged 1-7 ys in China. Twelve metropolises were chosen from different areas of China. In each region, we selected 4-10 kindergartens and 2-5 vaccination clinics randomly. A complete history-taking and skin examination were performed by dermatologists. The definite diagnosis of AD and the severity were determined by two or three dermatologists. All criteria concerned in UK diagnosis criteria, characteristic presentation of AD and atypical manifestations were recorded in detail. A total of 13998 children from 84 kindergartens and 40 vaccination clinics were included. The prevalence of AD was 12.94% by clinical diagnosis of dermatologists overall, with 74.6% of mild AD. Comparatively, prevalence of AD based on UK diagnostic criteria was 4.76%. This is the first face-to-face nation-wide study in Chinese children aged 1-7 ys, revealing that the prevalence of AD in children is closer to that of wealthier nations.

Prevalence of Atopic Dermatitis in Chinese Children aged 1-7 ys.

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by varying degrees of oculocutaneous albinism, recurrent infections, and a mild bleeding tendency, with late neurologic dysfunction. This syndrome is molecularly characterized by pathognomonic mutations in the LYST (lysosomal trafficking regulator). Using whole genome sequencing (WGS) we attempted to identify novel mutations of CHS based on a family of CHS with atypical symptoms. The two patients demonstrated a phenotypic constellation including partial oculocutaneous albinism, frequency upper respiratory infection or a marginal intelligence, without bleeding tendency and severe immunodeficiency. WGS revealed two compound LYST mutations including a maternally inherited chr1:235969126G > A (rs80338652) and a novel paternally inherited chr1: 235915327A > AT, associated with autosomal recessive CHS. These two variants fall in the coding regions of LYST, resulting in premature truncation of LYST due to R1104X/N2535KfsX2 induced incomplete translation. Notably, the heterozygous carriers (i.e. parents) were unaffected. Our finding also reveals decreased plasma serotonin levels in patients with CHS compared with unaffected individuals for the first time. The present study contributes to improved understanding of the causes of this disease and provides new ideas for possible treatments.

Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.

Tuberous sclerosis complex (TSC) is a genetic disorder and facial angiofibromas are disfiguring facial lesions. The aim of this study was to analyze the clinical and genetic features of TSC and to assess the treatment of facial angiofibromas using topical sirolimus in Chinese children.

Tuberous Sclerosis Complex in 29 Children: Clinical and Genetic Analysis and Facial Angiofibroma Responses to Topical Sirolimus.

Chinese case of Nakajo-Nishimura syndrome with a novel mutation of the PSMB8 gene.

Confocal Raman has been widely used for measuring the water concentration profile inside skin to calculate clinical end points, such as stratum corneum thickness. In this article, multivariate curve resolution was applied to resolve the pure components contained in high frequency (2500-4000 cm) in vivo confocal Raman data. Three components were identified by comparing with reference spectra of materials in skin. These three components are water, protein, and lipid. The score values associated with these three components were transformed to mass ratio by leveraging the response factors for protein and lipid in a calibration model utilizing the pure material spectra. The concentration profiles for protein and lipid as a function of depth across the stratum corneum are utilized as new clinical end points. Results from an in vivo study with individuals who experience atopic dermatitis symptoms successfully demonstrated a statistical difference between Raman spectra from nonlesion and lesion skin sites. Trends in the depth profiles of the skin components are consistent with previous literature reports.

MCR Approach Revealing Protein, Water, and Lipid Depth Profile in Atopic Dermatitis Patients' Stratum Corneum via in Vivo Confocal Raman Spectroscopy.

Silvery Gray Hair: A Clue to Diagnosing Chédiak-Higashi Syndrome.

Café-au-lait spots, also known as café-au-lait macules (CALMs), are a common pigmentary disorder. Although various laser modalities have been used to treat CALMs, the efficacy of laser treatment in children differs from that in adults. We investigated the efficacy, safety, and clinical factors of the treatment of CALMs using Q-switched alexandrite laser (755 nm) therapy in children.

Treatment of Café-Au-Lait Spots Using Q-Switched Alexandrite Laser: Analysis of Clinical Characteristics of 471 Children in Mainland China.

It acknowledged that skin care is an important part of atopic dermatitis therapy. However, clinical evidences are limited for the best bathing practices, especially the skin health performance of cleansing products on children's atopic dermatitis skin.

Zigang Xu

Department of Dermatology

Beijing Children's Hospital

Resolving Water, Proteins, and Lipids from In Vivo Confocal Raman Spectra of Stratum Corneum through a Chemometric Approach

Zigang Xu

.css-o250i3{font-size:18px;font-family:Open Sans,sans-serif;line-height:21.6px;}Department of Dermatology

Beijing Children's Hospital

Resolving Water, Proteins, and Lipids from In Vivo Confocal Raman Spectra of Stratum Corneum through a Chemometric Approach

Department of Dermatology