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Article ; Online: Characteristics of hearing impairment in patients with trisomy 18.

Tamaki, Shoko / Iwatani, Sota / Katsunuma, Sayaka / Otsu, Masahide / Yoshimoto, Seiji

American journal of medical genetics. Part A

2023 Volume 194, Issue 1, Page(s) 107–110

MeSH term(s)	Humans ; Trisomy 18 Syndrome/complications ; Trisomy 18 Syndrome/diagnosis ; Trisomy 18 Syndrome/genetics ; Hearing Loss/diagnosis ; Hearing Loss/genetics ; Down Syndrome ; Trisomy/genetics
Language	English
Publishing date	2023-07-26
Publishing country	United States
Document type	Letter
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63358
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Zs.A 1376/A: Show issues

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Article ; Online: Cellular recognition and patterning in sensory systems.

Togashi, Hideru / Katsunuma, Sayaka

Experimental cell research

2017 Volume 358, Issue 1, Page(s) 52–57

Abstract: Cells dissociated from various tissues of vertebrate embryos preferentially reaggregate with cells from the same tissue when they are mixed together. This tissue-specific recognition process in vertebrates is mainly mediated by a family of cell adhesion ... ...

Abstract	Cells dissociated from various tissues of vertebrate embryos preferentially reaggregate with cells from the same tissue when they are mixed together. This tissue-specific recognition process in vertebrates is mainly mediated by a family of cell adhesion molecules because of their specific binding properties. Recent studies have revealed that two families of adhesion molecules, nectins and cadherins, are associated with each other, and these associations provide cells with the differential adhesive affinities required for cellular recognition and complex cellular pattern formations during development. This review provides an overview of recent findings regarding the cooperative functions of nectins and cadherins, as well as a discussion of the molecular basis underlying these functions.
MeSH term(s)	Animals ; Cadherins/metabolism ; Cell Adhesion/physiology ; Cell Adhesion Molecules/metabolism ; Cell Communication/physiology ; Humans ; Morphogenesis/physiology ; Nectins ; Vertebrates/metabolism
Chemical Substances	Cadherins ; Cell Adhesion Molecules ; Nectins
Language	English
Publishing date	2017-09-01
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	1493-x
ISSN	1090-2422 ; 0014-4827
ISSN (online)	1090-2422
ISSN	0014-4827
DOI	10.1016/j.yexcr.2017.04.005
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Zs.A 563: Show issues

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Article ; Online: Corrigendum: Influences of Orogastric and Nasogastric Tubes on Sucking Pressure during Bottle Feeding in Immature Infants.

Komatsu, Takeshi / Furukawa, Tatsuya / Kobayashi, Daisuke / Iwatani, Sota / Yoshimoto, Seiji / Yamashita, Toshihiko / Endo, Yumi / Katsunuma, Sayaka / Otsu, Masahide / Nibu, Ken-Ichi

The Kobe journal of medical sciences

2023 Volume 69, Issue 1, Page(s) S1

Abstract: This corrects the article in Kobe J Med Sci. 2023 May 31; 69(1): E25-E32. ...

Abstract	This corrects the article in Kobe J Med Sci. 2023 May 31; 69(1): E25-E32.
Language	English
Publishing date	2023-09-25
Publishing country	Japan
Document type	Periodical Index ; Published Erratum
ZDB-ID	840671-6
ISSN	1883-0498 ; 0023-2513
ISSN (online)	1883-0498
ISSN	0023-2513
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Zs.A 193: Show issues

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Article ; Online: Influences of Orogastric and Nasogastric Tubes on Sucking Pressure during Bottle Feeding in Immature Infants.

Komatsu, Takeshi / Furukawa, Tatsuya / Kobayashi, Daisuke / Iwatani, Sota / Yoshimoto, Seiji / Yamashita, Toshihiko / Endo, Yumi / Katsunuma, Sayaka / Otsu, Masahide / Nibu, Ken-Ichi

The Kobe journal of medical sciences

2023 Volume 69, Issue 1, Page(s) E25–E32

Abstract: Orogastric (OG) and nasogastric (NG) tubes have been reported to delay breastfeeding initiation and affect respiratory function. However, the effects of feeding tubes on sucking pressure have not been well studied. Fourteen preterm infants were enrolled ... ...

Abstract	Orogastric (OG) and nasogastric (NG) tubes have been reported to delay breastfeeding initiation and affect respiratory function. However, the effects of feeding tubes on sucking pressure have not been well studied. Fourteen preterm infants were enrolled in this study, and their sucking pressures during bottle feeding with an OG tube, NG tube, and without any tube were measured. Sucking pressure significantly increased after changing the OG tube to an NG tube (p = 0.044). However, sucking pressure showed no significant differences after changing the feeding method from an NG tube to oral intake. Thus, NG tubes are superior to OG tubes in terms of sucking pressure.
MeSH term(s)	Female ; Infant, Newborn ; Humans ; Infant ; Bottle Feeding ; Infant, Premature ; Breast Feeding
Language	English
Publishing date	2023-05-31
Publishing country	Japan
Document type	Journal Article
ZDB-ID	840671-6
ISSN	1883-0498 ; 0023-2513
ISSN (online)	1883-0498
ISSN	0023-2513
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Zs.A 193: Show issues

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Article ; Online: Genetic background in late-onset sensorineural hearing loss patients.

Uehara, Natsumi / Fujita, Takeshi / Yamashita, Daisuke / Yokoi, Jun / Katsunuma, Sayaka / Kakigi, Akinobu / Nishio, Shin-Ya / Nibu, Ken-Ichi / Usami, Shin-Ichi

Journal of human genetics

2021 Volume 67, Issue 4, Page(s) 223–230

Abstract: Genetic testing for congenital or early-onset hearing loss patients has become a common diagnostic option in many countries. On the other hand, there are few late-onset hearing loss patients receiving genetic testing, as late-onset hearing loss is ... ...

Abstract	Genetic testing for congenital or early-onset hearing loss patients has become a common diagnostic option in many countries. On the other hand, there are few late-onset hearing loss patients receiving genetic testing, as late-onset hearing loss is believed to be a complex disorder and the diagnostic rate for genetic testing in late-onset patients is lower than that for the congenital cases. To date, the etiology of late-onset hearing loss is largely unknown. In the present study, we recruited 48 unrelated Japanese patients with late-onset bilateral sensorineural hearing loss, and performed genetic analysis of 63 known deafness gene using massively parallel DNA sequencing. As a result, we identified 25 possibly causative variants in 29 patients (60.4%). The present results clearly indicated that various genes are involved in late-onset hearing loss and a significant portion of cases of late-onset hearing loss is due to genetic causes. In addition, we identified two interesting cases for whom we could expand the phenotypic description. One case with a novel MYO7A variant showed a milder phenotype with progressive hearing loss and late-onset retinitis pigmentosa. The other case presented with Stickler syndrome with a mild phenotype caused by a homozygous frameshift COL9A3 variant. In conclusion, comprehensive genetic testing for late-onset hearing loss patients is necessary to obtain accurate diagnosis and to provide more appropriate treatment for these patients.
MeSH term(s)	Genetic Background ; Hearing Loss/genetics ; Hearing Loss, Sensorineural/genetics ; Humans ; Pedigree ; Phenotype
Language	English
Publishing date	2021-11-26
Publishing country	England
Document type	Journal Article
ZDB-ID	1425192-9
ISSN	1435-232X ; 1434-5161
ISSN (online)	1435-232X
ISSN	1434-5161
DOI	10.1038/s10038-021-00990-2
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Zs.A 201: Show issues

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Article ; Online: Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome.

Masuda, Masatsugu / Kanno, Ayako / Nara, Kiyomitsu / Mutai, Hideki / Morisada, Naoya / Iijima, Kazumoto / Morimoto, Noriko / Nakano, Atsuko / Sugiuchi, Tomoko / Okamoto, Yasuhide / Masuda, Sawako / Katsunuma, Sayaka / Ogawa, Kaoru / Matsunaga, Tatsuo

Scientific reports

2022 Volume 12, Issue 1, Page(s) 969

Abstract: Some patients have an atypical form of branchio-oto-renal (BOR) syndrome, which does not satisfy the diagnostic criteria, despite carrying a pathogenic variant (P variant) or a likely pathogenic variant (LP variant) of a causative gene. P/LP variants ... ...

Abstract	Some patients have an atypical form of branchio-oto-renal (BOR) syndrome, which does not satisfy the diagnostic criteria, despite carrying a pathogenic variant (P variant) or a likely pathogenic variant (LP variant) of a causative gene. P/LP variants phenotypic indices have yet to be determined in patients with typical and atypical BOR syndrome. We hypothesized that determining phenotypic and genetic differences between patients with typical and atypical BOR syndrome could inform such indices. Subjects were selected from among patients who underwent genetic testing to identify the cause of hearing loss. Patients were considered atypical when they had two major BOR diagnostic criteria, or two major criteria and one minor criterion; 22 typical and 16 atypical patients from 35 families were included. Genetic analysis of EYA1, SIX1, and SIX5 was conducted by direct sequencing and multiplex ligation-dependent probe amplification. EYA1 P/LP variants were detected in 25% and 86% of atypical and typical patients, respectively. Four EYA1 P/LP variants were novel. Branchial anomaly, inner ear anomaly, and mixed hearing loss were correlated with P/LP variants. Development of refined diagnostic criteria and phenotypic indices for atypical BOR syndrome will assist in effective detection of patients with P/LP variants among those with suspected BOR syndrome.
MeSH term(s)	Branchio-Oto-Renal Syndrome/genetics ; Female ; Homeodomain Proteins/genetics ; Humans ; Intracellular Signaling Peptides and Proteins/genetics ; Male ; Nuclear Proteins/genetics ; Pedigree ; Phenotype ; Protein Tyrosine Phosphatases/genetics
Chemical Substances	Homeodomain Proteins ; Intracellular Signaling Peptides and Proteins ; Nuclear Proteins ; SIX1 protein, human ; SIX5 protein, human ; EYA1 protein, human (EC 3.1.3.48) ; Protein Tyrosine Phosphatases (EC 3.1.3.48)
Language	English
Publishing date	2022-01-19
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-022-04885-w
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Article ; Online: Effect of intranasal administration of neurotrophic factors on regeneration of chemically degenerated olfactory epithelium in aging mice.

Fukuda, Yuriko / Katsunuma, Sayaka / Uranagase, Atsuhiro / Nota, Jumpei / Nibu, Ken-Ichi

Neuroreport

2018 Volume 29, Issue 16, Page(s) 1400–1404

Abstract: In the mammalian olfactory epithelium (OE), neurogenesis continues throughout the lifetime, by replacing olfactory receptor neurons (ORNs) lost by normal turnover in the postnatal period. However, this ability decreases with age and/or because of various ...

Abstract	In the mammalian olfactory epithelium (OE), neurogenesis continues throughout the lifetime, by replacing olfactory receptor neurons (ORNs) lost by normal turnover in the postnatal period. However, this ability decreases with age and/or because of various toxic factors. To date, no effective treatment for olfactory dysfunction' especially because of aging, is available in clinical practice. Here, we examined the effects of intranasal administration of fibroblast growth factor-2 and insulin-like growth factor-1 in gelatin hydrogel on the degenerated OE of aging mice induced by methimazole administration. These topical treatments led to increases in the number of olfactory marker protein-positive cells, which identified mature ORNs, resulting in the increased thickness of OE. These results indicate that both fibroblast growth factor-2 and insulin-like growth factor-1 promote the proliferation of basal cells and differentiation of immature ORNs into mature ORNs in the degenerated OE of aging mice. These agents might be promising candidates for the treatment of degenerated OE of aging humans.
MeSH term(s)	Administration, Intranasal ; Aging ; Animals ; Fibroblast Growth Factor 2/administration & dosage ; GAP-43 Protein/metabolism ; Gene Expression Regulation/drug effects ; Insulin-Like Growth Factor I/administration & dosage ; Male ; Mice ; Nerve Degeneration/chemically induced ; Nerve Degeneration/drug therapy ; Olfactory Marker Protein/metabolism ; Olfactory Mucosa/pathology ; Regeneration/drug effects
Chemical Substances	GAP-43 Protein ; Olfactory Marker Protein ; Omp protein, mouse ; insulin-like growth factor-1, mouse ; Fibroblast Growth Factor 2 (103107-01-3) ; Insulin-Like Growth Factor I (67763-96-6)
Language	English
Publishing date	2018-08-21
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1049746-8
ISSN	1473-558X ; 0959-4965
ISSN (online)	1473-558X
ISSN	0959-4965
DOI	10.1097/WNR.0000000000001125
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Zs.A 3118: Show issues

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Article: A High Risk of Missing Congenital Cytomegalovirus-Associated Hearing Loss through Newborn Hearing Screening in Japan.

Minami, Shujiro Bando / Yamanobe, Yoshiharu / Nakano, Atsuko / Sakamoto, Hirokazu / Masuda, Sawako / Takiguchi, Tetsuya / Katsunuma, Sayaka / Sugiuchi, Tomoko / Morita, Noriko / Kaga, Kimitaka / Matsunaga, Tatsuo

Journal of clinical medicine

2021 Volume 10, Issue 21

Abstract: It remains unclear to what extent newborn hearing screening (NHS) detects congenital cytomegalovirus (cCMV)-associated sensorineural hearing loss (SNHL) in Japan. This study aimed to clarify the NHS results and audiological characteristics of patients ... ...

Abstract	It remains unclear to what extent newborn hearing screening (NHS) detects congenital cytomegalovirus (cCMV)-associated sensorineural hearing loss (SNHL) in Japan. This study aimed to clarify the NHS results and audiological characteristics of patients with cCMV-associated SNHL. A total of 541 individuals with unilateral or bilateral hearing loss of unknown etiology were examined for cCMV infection. cCMV infection was defined by the presence of CMV DNA in the dried umbilical cord detected using real-time quantitative PCR. NHS results and audiological data were retrospectively obtained from medical records. Forty-four cases (8.1%) were positive for cCMV infection. Of them, 33 cases underwent NHS and 13 cases (39.4%) passed NHS bilaterally. The pure-tone audiograms of 21 patients were obtained. There were seven cases of unilateral SNHL, five cases of asymmetric bilateral SNHL, and nine cases of symmetric bilateral SNHL. cCMV-related hearing loss is highly heterogeneous, and there is a high risk of missing this condition through NHS.
Language	English
Publishing date	2021-10-29
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm10215056
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Article ; Online: Investigation of the hearing levels of siblings affected by a single GJB2 variant: Possibility of genetic modifiers.

Hosoya, Makoto / Fujioka, Masato / Nara, Kiyomitsu / Morimoto, Noriko / Masuda, Sawako / Sugiuchi, Tomoko / Katsunuma, Sayaka / Takagi, Akira / Morita, Noriko / Ogawa, Kaoru / Kaga, Kimitaka / Matsunaga, Tatsuo

International journal of pediatric otorhinolaryngology

2021 Volume 149, Page(s) 110840

Abstract: Objective: Variants in GJB2 can cause autosomal recessive deafness (DFNB1). There is evidence for genotype-phenotype correlations of GJB2 variants; however, several genotypes can cause varying levels of hearing loss likely attributable to differences in ...

Abstract	Objective: Variants in GJB2 can cause autosomal recessive deafness (DFNB1). There is evidence for genotype-phenotype correlations of GJB2 variants; however, several genotypes can cause varying levels of hearing loss likely attributable to differences in genetic or environmental background. As siblings share approximately 50% of their genetic background and usually have a common environmental background, analysis of phenotypes of siblings with a specific GJB2 variant may reveal factors relevant to phenotypic variation. There have been no previous analyses of differences in hearing among siblings carrying a single GJB2 genotype. Here, we investigated hearing differences between siblings with a single GJB2 variant, which can cause various levels of hearing loss. Methods: We examined hearing levels in 16 pairs of siblings homozygous for the c.235delC variant of GJB2. Differences in hearing acuity between sibling pairs were detected by auditory evaluation. Results: Average differences in acoustic threshold >30 dB were observed between five pairs of siblings, whereas the remaining 11 pairs had average threshold values within approximately 10 dB of one another. Hearing loss varied from moderate to profound. Conclusion: Our results indicate that auditory acuity associated with homozygosity for GJB2 c.235delC can vary in degree; however, in approximately 70% of younger siblings, it was approximately the same as that in the first child, despite a diverse spectrum of hearing loss among different families. These results suggest that differences in genetic background may modify the phenotype associated with homozygous GJB2 c.235delC.
MeSH term(s)	Connexin 26/genetics ; Connexins/genetics ; Deafness ; Hearing ; Humans ; Mutation ; Siblings
Chemical Substances	Connexins ; Connexin 26 (127120-53-0)
Language	English
Publishing date	2021-07-12
Publishing country	Ireland
Document type	Journal Article
ZDB-ID	754501-0
ISSN	1872-8464 ; 0165-5876
ISSN (online)	1872-8464
ISSN	0165-5876
DOI	10.1016/j.ijporl.2021.110840
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Zs.A 1507: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Three-year prospective study on olfaction of patients with Parkinson's disease.

Fujio, Hisami / Inokuchi, Go / Kuroki, Shunsuke / Tatehara, Shun / Katsunuma, Sayaka / Kowa, Hisamoto / Nibu, Ken-Ichi

Auris, nasus, larynx

2019 Volume 47, Issue 5, Page(s) 899–904

Abstract: Objective: We conducted a 3-year prospective study on olfaction of patients with Parkinson's disease (PD) in order to examine the severity and frequency of smell disorder in PD using odor identification test, Open Essence (OE) and to verify the validity ...

Abstract	Objective: We conducted a 3-year prospective study on olfaction of patients with Parkinson's disease (PD) in order to examine the severity and frequency of smell disorder in PD using odor identification test, Open Essence (OE) and to verify the validity of olfactory tests as a predictor of cognitive symptom onset of PD. Patients and methods: We conducted a prospective study by performing an annual examination over a 3-year period. For 56 cases diagnosed with PD by the Department of Neurology at our hospital, OE and Jet Stream Olfactometry (JSO) were performed to assess the olfactory function, and Mini-Mental-State Examination (MMSE) was conducted to measure cognitive impairment. Results: At the beginning, 56 cases were examined, of which 42 remained to be followed up for 3 years. Based on the results of baseline, we found a correlation between OE and the average cognitive thresholds of JSO, but did not find any correlation between OE and MMSE. OE (median 4.0→4.0) and the average cognitive thresholds of JSO (median 2.2→1.6)　decreased after 3 years, and MMSE (median 29→29) also declined, but not significantly. At the 3rd year, 6 cases with MMSE score of 23 or less were identified as suspected dementia and 36 cases with more than 24 points were defined as an invariant group. In order to distinguish these two groups, OE scores of baselines were evaluated with a combination of 12 odors. Sensitivity 1.0 and specificity 0.722 were obtained and the sensitivity+specificity value (1.722) was the highest when the number of correct answers was 4 or less using an odor combination of lumber, menthol, Japanese orange, gas for household use, Hinoki cypress and condensed milk. Conclusion: When the number of correct answers of 6 odors (lumber, menthol, Japanese orange, gas for household use, Hinoki cypress and condensed milk) is 4 or less in patients with PD, there is a possibility that MMSE declines in 3 years.
MeSH term(s)	Aged ; Aged, 80 and over ; Dementia/diagnosis ; Dementia/etiology ; Female ; Humans ; Male ; Mental Status and Dementia Tests ; Middle Aged ; Olfaction Disorders/etiology ; Parkinson Disease/complications ; Parkinson Disease/physiopathology ; Parkinson Disease/psychology ; Prospective Studies ; Sensitivity and Specificity ; Smell/physiology
Language	English
Publishing date	2019-09-08
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	604552-2
ISSN	1879-1476 ; 0385-8146
ISSN (online)	1879-1476
ISSN	0385-8146
DOI	10.1016/j.anl.2019.08.008
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