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A Tomitaka

Publications and source records attributed to A Tomitaka.

9 recordsLinked to original sources

Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome.

BACKGROUND: Germline missense mutations in the GJB2 gene that encodes connexin-26 (Cx26) have recently been found to be the cause of the keratitis-ichthyosis-deafness (KID) syndrome. OBJECTIVES: To define the GJB2 mutations in three Japanese patients with KID syndrome. METHODS: Genomic DNA was extracted from peripheral blood and used to amplify the GJB2 gene. Direct sequencing and endonuclease digestion were used for mutation analysis and DNA-based diagnosis. RESULTS: We identified two heterozygous mis-sense mutations (D50Y, D50N) in the GJB2 gene in three Japanese patients with KID syndrome. All mutations were located on the first extracellular domain of Cx26. CONCLUSIONS: These data expand the GJB2 mutation database and show that a dominant mutation of Cx26 can cause KID syndrome in Japanese patients.

Adult↗

Immunoreactivity of VR1 on epidermal keratinocyte of human skin.

We demonstrated the immunoreactivity of the receptor proteins, VR1, ion channels associated with pain sensation, on the epidermis of the human skin. Immunohistochemistry using antiserum against VR1 derived peptide showed immunoreactivity on the keratinocytes cell membrane of the human epidermis and cultured keratinocytes. The blocking peptide of the antiserum reduced the immunoreactivity on the epidermis. RT-PCR assay of cultured human keratinocyte also showed expression of VR1 mRNA. These results suggest the existence of VR1-like protein in epidermal keratinocytes of human skin.

Adult↗

Rapid contamination of the environments with varicella-zoster virus DNA from a patient with herpes zoster.

Patients with zoster are considered to be less contagious than varicella patients because their infection is localised. It is not known, however, when and for how long a spread of varicella-zoster virus (VZV) from a zoster patient begins and continues and the extent of virus spread from the patient. The polymerase chain reaction (PCR) was used to detect VZV DNA in samples obtained from the hands and throat of a patient with zoster and from her room environments including surfaces of the back of a chair, the door handle, the table and the air conditioner filter. VZV DNA was detected on the surfaces of the back of the seat and the table and in peripheral blood mononuclear cells (PBMCs) and serum on Day 4 of the illness. VZV DNAemia persisted for 4 days until Day 7 of the illness. It was also detected in samples collected from throat and the air conditioner filter on Days 6 and 7 of the illness respectively. All of the surfaces, that were examined in her home environment, were contaminated with VZV DNA by Day 7 of the illness. The present study showed rapid and wide spread of VZV DNA in the environment even from a patient with zoster.

Adult↗

[Four cases with latex allergy followed by anaphylaxis to chestnut].

It is well known that patients with latex allergy have cross-reactions to various fruits, which is called a latex fruit syndrome. We report four cases with latex allergy followed by anaphylaxis to chestnut. They are all nurses of our hospital, who has personal history of atopic diseases. There were varieties in the methods of processing chestnut, presence of epicutaneous contact to chestnut, and clinical courses among the cases. All cases had positive skin prick test reactions while only two cases showed specific IgEs measured with AlaSTAT to chestnut. This fact suggests that we have to warn the risk of anaphylaxis even if one had not shown a serum specific IgE. We could follow the clinical courses and study specific IgEs to chestnut and latex in the two cases for more than two years. The titer of specific IgE was increased in the one, who could not avoid eating chestnut and contact to latex, while it was decreased in the other who could avoid the exposure to the antigens. Hevein is one of the panallergens among latex and related fruits. We studied specific IgEs to hevein on these four cases and 12 normal controls. The results showed that the former had significantly higher values of sIgEs to hevein compared to the latter (p < 0.05). We conclude that a patient with latex allergy has a high risk of contact urticaria or even anaphylaxis to the related fruits such as chestnut so that we recommend the patient with latex allergy to avoid them.

Adult↗

[30 cases of occupational latex allergy].

We experienced 30 patients with occupational latex allergy (LA) in a 4-year period between 1995 and 1998 in Fujita Health University Hospital. All of them were medical personnel. We studied clinical symptoms and the clinical relevance of latex specific IgE and skin test (prick test and use test) in 30 cases. As a result, skin test result was most related of the diagnosis and the severity of LA. The average of the duration to decide LA diagnosis was 21.2 months. The reasons of the delayed diagnosis were that they were left and treated as an unexplained urticaria or asthma. Therefore, we have to warn about LA to the medical personnel who are frequently exposed to latex in Japan.

Adult↗