Katsumi Horiuchi
Hokkaido University
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Featured researches published by Katsumi Horiuchi.
Clinical Genetics | 2005
Hirotaka Fujioka; Tadashi Ariga; Katsumi Horiuchi; Makoto Otsu; Hiroharu H. Igawa; Kunihiro Kawashima; Yuhei Yamamoto; Tsuneki Sugihara; Yukio Sakiyama
Human GLI3 gene mutations have been identified in several phenotypes of digital abnormality such as Greig cephalopolysyndactyly syndrome, Pallister–Hall syndrome, preaxial polydactyly type‐IV (PPD‐IV) and postaxial polydactyly. However, the different phenotypes resulting from GLI3 mutations have not yet been properly defined. We have experienced two types of digital abnormality without other complicating developmental defects; a family with foot PPD‐IV with syndactyly of the third and fourth fingers, and four sporadic cases with biphalangeal thumb polydactyly (PPD‐I). The genes responsible for syndactyly of the third and fourth fingers (syndactyly type‐I) and PPD‐I have not yet been identified; we therefore examined the involvement of the GLI3 gene in these subtypes of digital abnormality. We found a non‐sense mutation in the GLI3 gene in the family with foot PPD‐IV accompanied with hand syndactyly of the third and fourth fingers, but no mutations were detected in the GLI3 gene in the four other cases with PPD‐I alone. Thus, the phenotype of foot PPD‐IV accompanied with hand syndactyly of the third and fourth fingers may result from a GLI3 mutation, whereas the PPD‐I phenotype alone is not caused by GLI3 gene defect. These results will help to define the phenotypic spectrum of GLI3 morphopathies, which have been recently proposed.
Journal of Craniofacial Surgery | 2007
Toshihiko Hayashi; Satoru Sasaki; Akihiko Oyama; Kunihiro Kawashima; Katsumi Horiuchi; Mol William; Yuhei Yamamoto
Treacher Collins syndrome (TCS) is a congenital, craniofacial disorder affecting the development of structures derived from the first and second branchial arches. The associated clinical features and their severity are variable. Therefore, we reasoned that objective assessment of the clinical features and their severity in TCS is necessary to plan the treatment and to evaluate the outcome. We hereby propose a new grading system for Treacher Collins syndrome (TCS). Since 1978, 16 patients have been diagnosed with TCS. Eleven out of the 16 TCS patients, for whom we were able to estimate the severity of the clinical features in each region, and to make an objective assessment of the therapeutic outcomes, were selected. By allocating points according to the degree of severity of the clinical features in each region, then summing them up and categorizing them, we classified the overall clinical features into 3 grades. The severity increases from grades I to III. In summary, there were 3 patients of grade I, 4 patients of grade II and 4 patients of grade III. Distinctive differences regarding the degree of severity of the clinical features were clearly observed between each grade. We propose a new TCS grading system and applied it to 11 patients. We believe that this system may be useful for planning treatment and to evaluate the outcome in TCS patients.
American Journal of Medical Genetics Part A | 2005
Katsumi Horiuchi; Tadashi Ariga; Hirotaka Fujioka; Kunihiro Kawashima; Yuhei Yamamoto; Hiroharu Igawa; Tsuneki Sugihara; Yukio Sakiyama
Treacher Collins Syndrome (TCS) (OMIM 154500) is a congenital, craniofacial disorder inherited as an autosomal dominant trait. The responsible gene for TCS, TCOF1, was mapped to 5q32‐33.1 and identified in 1996. Since then, TCOF1 mutations in patients with TCS have been reported from Europe, North and South America, however, no TCS cases from an Asian country have been molecularly characterized. Here we report mutational analysis for 11 Japanese patients with TCS for the first time, and have identified TCOF1 mutations in 9 of them. The mutations detected were various, but most likely all the mutations are predicted to result in a truncated gene product, known as treacle. One mutation frequently reported was included in our cases, but no missense mutations were detected. These findings are similar to those for the previous studies for TCS in other races. We have speculated about the molecular mechanisms of the mutations in most cases. Collectively, we have defined some of the characteristic molecular features commonly observed in TCS patients, irrespective of racial difference.
American Journal of Medical Genetics Part A | 2004
Katsumi Horiuchi; Tadashi Ariga; Hirotaka Fujioka; Kunihiro Kawashima; Yuhei Yamamoto; Hiroharu Igawa; Yukio Sakiyama; Tsuneki Sugihara
Treacher Collins syndrome (TCS) is caused by mutations in TCOF1 of the nonsense, small deletion, and small insertion types, which most likely result in haploinsufficiency. We report a novel de novo nonsense mutation 2731C → T, resulting in Arg911Stop, which truncates the protein. Our patient had the classic findings of TCS, but with documented craniosynostosis, choanal atresia, and esophageal regurgitation.
American Journal of Medical Genetics Part A | 2005
Hirotaka Fujioka; Tadashi Ariga; Minako Yoda; Masaya Ohsaki; Katsumi Horiuchi; Makoto Otsu; Tsuneki Sugihara; Yukio Sakiyama
Hirotaka Fujioka, Tadashi Ariga,* Minako Yoda, Masaya Ohsaki, Katsumi Horiuchi, Makoto Otsu, Tsuneki Sugihara, and Yukio Sakiyama Department of Plastic Surgery, Hokkaido University Graduate School of Medicine, Hokkaido, Japan Department of Pediatrics, Hokkaido University Graduate School of Medicine, Hokkaido, Japan Research Group of Human Gene Therapy, Hokkaido University Graduate School of Medicine, Hokkaido, Japan Department of Plastic Surgery, Bibai Rousai Hospital, Hokkaido, Japan Department of Pediatrics, Hakodate City Hospital, Hokkaido, Japan
International Journal of Clinical Oncology | 2007
Arata Tsutsumida; Hiroshi Furukawa; Yuhei Yamamoto; Katsumi Horiuchi; Tetsunori Yoshida; Hidehiko Minakawa; Satoru Fujii; Naoki Murao; Hiroaki Kuwahara; Toshiyuki Minamimoto; Hirotaka Fujioka; Taisuke Sakamoto; Toyohiro Honma
BackgroundIn Japan, elective lymph node dissection (ELND) has been the standard treatment for patients with possible nodal melanoma. Sentinel node biopsy (SNB) has now replaced ELND, not only in Japan but also worldwide. The objective of this study was to compare the interim outcomes of SNB and ELND.MethodsA retrospective study was conducted among patients with clinically node-negative disease treated at our institute with either SNB (n = 30) or ELND (n = 72).ResultsThe background was similar in the two groups. Nodal metastases were found in 40.0% of patients in the SNB group, but in only 26.4% in the ELND group (P = 0.173). The median follow-up was 31.5 months for the SNB group and 82 months for the ELND group. The incidence of locoregional recurrence and distant metastasis in the SNB group was 10.0% and 16.7%, respectively, and for the ELND group the incidence was 5.6% and 31.9%, respectively. The 3-year disease-free survival rate was similar in the two groups (P = 0.280), and the 3-year disease-free survival rates for node-positive patients were also similar in the two groups (P = 0.90), as were the 3-year disease-free survival rates for node-negative patients (P = 0.193).ConclusionThis interim result in a Japanese melanoma population with clinically node-negative disease demonstrated that SNB identified more nodal micrometastases than ELND. This increase in accurate staging likely resulted from the reliable identification of the lymph node field by lymphoscintigraphy, as well as the more detailed pathologic examination of the nodes removed in SNB. It is quite reasonable to perform SNB instead of ELND in this population.
Journal of Burn Care & Research | 2017
Ryuji Shichinohe; Yuhei Yamamoto; Kunihiro Kawashima; Chu Kimura; Kentaro Ono; Katsumi Horiuchi; Tetsunori Yoshida; Naoki Murao; Toshihiko Hayashi; Emi Funayama; Akihiko Oyama; Hiroshi Furukawa
Early excision and skin grafting is the principle treatment for a burned hand although there are occasions when it cannot be done such as severe general condition, delayed consultation, and the lack of a definitive assessment of burn depth. This study analyzes the factors that affected function after a delayed excision and skin graft for hands with a deep dermal burn. This study retrospectively evaluated 43 burned hands that required a delayed excision and split-thickness skin graft on the dorsal side. Cases were required to only have split-thickness skin grafting from the dorsum of the hand and fingers distally to at least the proximal interphalangeal joint at least 8 days after the injury. The hands were divided into two functional categories: Functional category A, normal or nearly normal joint movements, and functional category B, abnormal joint movements. Demographic data were assessed statistically by a univariate analysis following a multiple regression analysis by a stepwise selection. A significant difference was observed between the groups in the number of days from grafting to complete wound healing of the graft site and with or without an escharotomy in the analysis. These parameters were statistically significant predictors of functional category B. The functional outcome of a burned hand after a delayed excision and split-thickness skin graft on the dorsal side became degraded depending on the number of days from grafting to complete wound healing. Cases that underwent an escharotomy also showed deterioration in function.
Skin Cancer | 2008
Ryuji Shichinohe; Katsumi Horiuchi; Masayuki Osawa; Kunihiro Kawashima; Tetsunori Yoshida; Akio Takada; Toshinao Takeuchi; Testuri Matsumura
62歳男性。初診の半年前から右母指爪下に白色調の病変と周囲の発赤を自覚した。前医で爪の開窓および病変の掻爬処置を受けたが病変の再発を認め, 悪性腫瘍を疑われ当科を紹介された。初診時に右母指爪甲の表面は粗槌で中央部に爪甲欠損部を認め, 爪甲欠損部の中枢側に大きさ6×5mmの淡褐色の腫瘤が透見された。単純エックス線写真では右母指末節骨の骨破壊像が認められ, 右上腕内側には弾性硬の皮下腫瘤が触知された。爪下の腫瘍を切除し, 皮膚欠損部は人工真皮で被覆し, 二期的に分層植皮術を行い再建した。病理組織では有棘細胞様の胞体の広い細胞がカップ状に増殖し, 内腔に角化物を容れた像が認められ爪下ケラトアカントーマと診断した。
International Journal of Clinical Oncology | 2007
Arata Tsutsumida; Hiroshi Furukawa; Yuhei Yamamoto; Katsumi Horiuchi; Tetsunori Yoshida; Satoru Fujii
The introduction of the sentinel node (SN) concept by Morton et al. made it possible to determine the status of the regional node basin with a minimally invasive procedure, and SN biopsy (SNB) has evolved as the accepted regional node staging method; approximately 80% of patients with high-risk melanoma are thus spared the morbidity associated with elective lymph node dissection (ELND). Complete lymph node dissection (CLND) is recommended for the approximately 20% of patients with tumor-positive SNB; the frequency of non-SN metastases in the CLND specimen in SN-positive patients has been shown to be approximately 15% to 20%. We evaluated the value of a subsequent CLND for a Japanese population of melanoma patients with positive SNB at our institute. We performed lymphatic mapping and SNB, using Tchuman serum albumin or phytate colloid and blue dye. SN metastases were identifi ed histopathologically in 11 patients and all these patients underwent CLND. Table 1 shows the clinicopathological results, which included sex, age, location of the primary lesion, tumor thickness, ulceration, and the maximum distance of melanoma cells from the margin of the SN capsule as a histopathological parameter of tumor burden in the SNs (Fig. 1). Of the 11 patients with positive SNs, 10 (91%) had no further positive nodes confi rmed by CLND, and the mean maximum depth of the melanoma cells from the capsule in the SNs in these 10 patients (0.83 mm; range, 0.3–2.5 mm) was small; only 1 patient, with a primary lesion of 5.0-mm thickness, had one positive non-SN – the maximum depth of the melanoma cells in the SNs in this patient was 5 mm. It is suggested, in this preliminary report of a Japanese population, that most patients with positive SNs did not have non-SN metastases and had a minimum tumor burden in the SNs. Recent studies have supported our results, showing that only approximately 15% to 20% of patients with tumor-positive SNs have additional non-SN metastases in the same nodal basin. This translates into potentially making the majority of SN-positive patients free of nodal disease by performing only SNB. These results raised questions regarding the necessity of routinely performing CLND in all patients with tumor-positive SNs. Recently, some investigators have examined clinical and pathological factors that might identify subgroups of patients whose disease is confi ned to the SN. It has been suggested that the tumor burden, in terms of the micromorphometric features in SNs, is a predictor of nonSN-positivity. More recently, a multiinstitutional study was undertaken by Wong et al., who showed that the disease-specifi c survival of patients who underwent only SNB was, statistically, not signifi cantly worse than that of patients who underwent CLND, and there was no signifi cant difference in disease-specifi c survivals between these two groups. This study will be followed by the Multicenter Selective Lymphadenectomy Trial (MSLT)-II, which is the second multicenter international phase III randomized trial to determine whether SN-positive patients require anything more than SNB.
Microsurgery | 2003
Yuhei Yamamoto; Katsumi Horiuchi; Satoru Sasaki; Mitsuru Sekido; Hiroshi Furukawa; Akihiko Oyama; Kazuyoshi Yajima; Tsuneki Sugihara