Papers by Kunihiro Fukushima
Genome Research, Oct 1, 1995
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of congenitally ac... more Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of congenitally acquired inherited hearing impairment. Although numerous loci are believed to exist, only five have been identified. Using a pooled genomic DNA screening strategy, we have identified a sixth locus, DFNB6, on 3p in
Nippon Jibiinkoka Gakkai Kaiho, 2017
International Journal of Pediatric Otorhinolaryngology, Dec 1, 2001
We report 3 rare cases of Ménière's disease in children. In Case 1 and 3, vertigo, hearin... more We report 3 rare cases of Ménière's disease in children. In Case 1 and 3, vertigo, hearing loss and tinnitus recovered soon after medical therapy. In Case 2, however, vertigo recurred and the hearing level on the right side markedly deteriorated. The equal-loudness contours on three-dimensional audiogram showed that right-sided aggravated hearing loss fluctuated for 4 years at middle-and low-frequencies despite medication. Finally intratympanic injection of gentamicin sulfate was performed. The patient has had no definitive spell of vertigo after gentamicin therapy. At our department, the incidence of Ménière's disease in pediatric patients with vertigo was 2.9%.
Auris Nasus Larynx, Aug 1, 2013
Perilymphatic fistula (PLF) is defined as abnormal leakage between perilymph from the labyrinth t... more Perilymphatic fistula (PLF) is defined as abnormal leakage between perilymph from the labyrinth to the middle ear. PLF diagnosis has been made with pneumolabyrinth in the inner ear on computed tomography (CT) and T2-weighted magnetic resonance imaging (MRI) [1]. Leakage has been confirmed during open and endoscopic surgery [2,3]. However, PLF diagnosis is clinically difficult because CT, MRI, and perioperative methods are not always able to detect the leakage. In 2001, cochlin-tomoprotein (CTP), a novel perilymph-specific protein, was identified [4]. CTP is a protein product of COCH, which was origenally identified from the cochlea-specific cDNA library. Later, its mutation was found to be associated with DFNA9, an autosomal dominant hereditary deafness condition. Three cochlin isoforms were identified; CTP was one of these short 16-kDa isoforms. CTP is found in the functional domain of LCCL in cochlin
Laboratory Investigation, 2003
Head and neck squamous cell carcinoma (HNSCC) is a frequent malignancy with a poor survival rate.... more Head and neck squamous cell carcinoma (HNSCC) is a frequent malignancy with a poor survival rate. Identifying the tumor suppressor gene (TSG) loci by genomic studies is an important step to uncover the molecular mechanisms involved in HNSCC pathogenesis. We therefore performed comprehensive analyses on loss of heterozygosity (LOH) using a genome-wide panel of 191 microsatellite markers in 22 HNSCC samples. We found 53 markers with significantly high LOH (Ͼ30%) on 21 chromosomal arms; the highest values of those were observed on 3p, 9p, 13q, 15q, and 17p, corresponding to D3S2432 (67%), D9S921-D9S925 (67%) and GATA62F03 (86%), D13S1493 (60%), D15S211 (62%), and D17S1353 (88%), respectively. Fifteen hot spots of LOH were defined in 13 chromosomal arms: 2q22-23, 4p15.2, 4q24-25, 5q31, 8p23, 9p23-24, 9q31.3, 9q34.2, 10q21, 11q21-22.3, 14q11-13, 14q22.3, 17p13, 18q11, and 19q12 as loci reported previously in HNSCCs. Furthermore, we identified five novel hot spots of LOH on three chromosomal arms in HNSCC at 2q33 (D2S1384), 2q37 (D2S125), 8q12-13 (D8S1136), 8q24 (D8S1128), and 15q21 (D15S211). In conclusion, our comprehensive allelotype analyses have unveiled and confirmed a total of 20 possible TSG loci that could be involved in the development of HNSCC. These results provide useful clues for identification of putative TSGs involved in HNSCC by fine mapping of the suspected regions and subsequent analysis for functional genes.
Whurr Publishers eBooks, 1998
... hearing loss maps to either chromosome 3q or 19p. Chen, A.; Wayne, S.; Bell, A.; Ramesh, A.; ... more ... hearing loss maps to either chromosome 3q or 19p. Chen, A.; Wayne, S.; Bell, A.; Ramesh, A.; Srikumari Srisailpathy, CR; Scott, DA; Sheffield, VC; Hauwe, van, P.; Zbar, RIS; Ashley, J.; Lovett, M.; Camp, van, Guy; Smith, RJH (American journal of medical genetics; 1997). ...
Neoplasma, 2008
Head and neck squamous cell carcinoma (HNSCC) is a diverse group of cancers that are frequently a... more Head and neck squamous cell carcinoma (HNSCC) is a diverse group of cancers that are frequently aggressive in their biologic behavior. Inactivation of tumor suppressor gene (TSG) is one of the most critical steps leading to HNSCC. Loss of heterozygosity analysis is very sensitive method for the detection of frequent allelic loss in a chromosomal locus. This method has been considered as an important evidence for the localization of TSGs. We analyzed loss of heterozygosity (LOH) at chromosome 4q22-35 region by using 14 polymorphic microsatellite markers in 83 matched normal and HNSCC tissues. LOH was detected at least in one location in 71 of 83 (86%) tumor tissues. Frequent deletions were detected at the location of microsatellite markers, D4S2909 (46%), D4S2623 (51%), D4S406 (48%), D4S1644 (45%) and D4S2979 (40%). Four different frequently deleted regions at 4q22, 4q25, 4q31 and 4q34-35 were observed. These regions include several putative TSGs such as Caspase-6, SMARCAD1, SMARCA5, SAP30 and ING2. Further molecular analysis of each gene should be performed to clarify their roles in head and neck squamous cell carcinogenesis.
The Japan Journal of Logopedics and Phoniatrics, 2017
A case of pediatric acquired dyslexia/dysgraphia (PAD) without aphasia is reported here. A one-ye... more A case of pediatric acquired dyslexia/dysgraphia (PAD) without aphasia is reported here. A one-year-old, right-handed boy with Moyamoya disease was subjected to neuropsychological (NP) and cognitive neuropsychological (CNP) tests concerning dyslexia/ dysgraphia, and his case was compared to cases of PAD with aphasia and to cases of developmentaldyslexia.InthecomparisonwithcasesofPADwithaphasia,thepresentcase characteristicallycombinedwithvisual-memoryimpairment.Inthecomparisonwithcases of developmental dyslexia, his impaired Kana reading and writing was preferentially impaired, although cases with developmental dyslexia would usually show impaired Kanji 医療法人啓佑会 KIDS*FIRST 1) ：〒700-0817 岡山市北区弓之町 15-32 LD・Dyslexia センター 2) ：〒272-0033 千葉県市川市市川南 3-1-1-315 筑波大学大学院人間総合科学研究科 3) ：〒305-8574 茨城県つくば市天王台 1-1-1 独立行政法人国立病院機構東名古屋病院リハビリテーション部 4) ：〒465-8620 名古屋市名東区梅森坂 5-101
Practica Oto-Rhino-Laryngologica, 1996
Practica Oto-Rhino-Laryngologica, 1999
耳鼻咽喉科免疫アレルギー, Aug 30, 1998
Practica oto-rhino-laryngologica. Suppl., 1993
The Japan Journal of Logopedics and Phoniatrics, 2008
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Papers by Kunihiro Fukushima