Nagoya Journal of Medical Science最新文献_第2页

Biomechanical characteristics of high- and low-frequency trunk acceleration upon gait initiation related to balance ability in community-dwelling elderly people: a cross-sectional study. 社区老年人高低频躯干加速与平衡能力相关的步态启动的生物力学特征：一项横断面研究。

IF 0.9 4区医学

Nagoya Journal of Medical Science Pub Date : 2025-05-01 DOI: 10.18999/nagjms.87.2.329

Masahiro Nishimura, Yasushi Uchiyama

{"title":"Biomechanical characteristics of high- and low-frequency trunk acceleration upon gait initiation related to balance ability in community-dwelling elderly people: a cross-sectional study.","authors":"Masahiro Nishimura, Yasushi Uchiyama","doi":"10.18999/nagjms.87.2.329","DOIUrl":"10.18999/nagjms.87.2.329","url":null,"abstract":"Although trunk acceleration during walking is widely used as a measure of stability, few studies have focused on sensitive postural control in community-dwelling elderly people to detect components related to balance ability during gait initiation. This study aimed to clarify the biomechanical characteristics of movement and sensitive postural control related to balance ability, focusing on high- and low-frequency components of trunk acceleration during gait initiation. Healthy older participants were divided into two groups (high-performance older people [Older(H)], n = 11; age, 76.2 ± 3.3 years, and low-performance older people [Older(L)], n = 17; age, 75.8 ± 3.2 years) based on the Timed Up and Go Test time related to balance ability while walking at their chosen speed. Trunk acceleration data were obtained from an accelerometer on the L3-4 level spinous process. The gait velocity was measured at the first step using a motion capture system. The acceleration data were separated into high- and low-frequency components, and the root mean square was calculated. The level of significance was set at 5%. For the high-frequency component, the root mean square of acceleration in Older(L) was significantly lower than that of Older(H) in the mediolateral direction (p = 0.019) and correlated with gait velocity (r = 0.415; p < 0.001). For the low-frequency component, the root mean square of acceleration in Older(L) was significantly lower than that of Older(H) in the vertical (p = 0.034) and anteroposterior direction (p = 0.039). The results suggest that low- and high-frequency components of trunk acceleration can reveal biomechanical characteristics in community-dwelling elderly people.","PeriodicalId":49014,"journal":{"name":"Nagoya Journal of Medical Science","volume":"87 2","pages":"329-338"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12320296/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144790524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Reproducibility and validity of a food frequency questionnaire for nutrient intakes in the study areas of large-scale cohort studies in Japan. 日本大规模队列研究研究区域营养摄入食物频率问卷的可重复性和有效性。

IF 0.9 4区医学

Nagoya Journal of Medical Science Pub Date : 2025-05-01 DOI: 10.18999/nagjms.87.2.237

Chiho Goto, Nahomi Imaeda, Kenji Wakai, Tae Sasakabe, Nobuaki Michihata, Isao Oze, Akihiro Hosono, Mako Nagayoshi, Naoko Miyagawa, Etsuko Ozaki, Hiroaki Ikezaki, Hinako Nanri, Rie Ibusuki, Sakurako Katsuura-Kamano, Kiyonori Kuriki, Yuri Yaguchi, Ayako Kurihara, Keitaro Matsuo

{"title":"Reproducibility and validity of a food frequency questionnaire for nutrient intakes in the study areas of large-scale cohort studies in Japan.","authors":"Chiho Goto, Nahomi Imaeda, Kenji Wakai, Tae Sasakabe, Nobuaki Michihata, Isao Oze, Akihiro Hosono, Mako Nagayoshi, Naoko Miyagawa, Etsuko Ozaki, Hiroaki Ikezaki, Hinako Nanri, Rie Ibusuki, Sakurako Katsuura-Kamano, Kiyonori Kuriki, Yuri Yaguchi, Ayako Kurihara, Keitaro Matsuo","doi":"10.18999/nagjms.87.2.237","DOIUrl":"10.18999/nagjms.87.2.237","url":null,"abstract":"The Japan Multi-Institutional Collaborative Cohort Study, the Yamagata Molecular Epidemiological Cohort Study, and the Tsuruoka Metabolomics Cohort Study use a 47-item food frequency questionnaire (FFQ) developed in central Japan in 2004. We applied regression analyses to estimate nutrient intakes in the FFQ. The regression equations, however, may not be so robust and may vary among areas, even in Japan. We aimed to evaluate the reproducibility and validity of the FFQ over an expanded area of Japan. Healthy volunteers aged 34-70 years from 13 areas of Japan provided 12-day weighed dietary records (WDRs) and completed two FFQs over 1 year. We evaluated reproducibility and validity by comparing the intakes of 27 nutrients between the two FFQs and the first FFQ (FFQ1) and WDRs, respectively. Spearman's rank correlation coefficients (SRs) between estimates from the FFQs and WDRs were calculated and corrected for intra-individual variation in the WDRs. Intakes of the selected nutrients estimated from the two FFQs were equivalent. The median energy-adjusted SRs between FFQ1 and the second FFQ were 0.66 for both men and women. Regarding validity adjusted for within-individual variation, energy-adjusted SRs for WDRs vs FFQ1 ranged from 0.13 (thiamin) to 0.79 (alcohol) for men, and the median was 0.35. The energy-adjusted SRs ranged from 0.20 (protein) to 0.71 (alcohol) for women, and the median was 0.43. The FFQ demonstrated high reproducibility and moderate validity, which suggests that it is appropriate to clarify associations between diet and health and/or disease among adults in Japan.","PeriodicalId":49014,"journal":{"name":"Nagoya Journal of Medical Science","volume":"87 2","pages":"237-253"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12320297/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144790436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Unraveling the enigma of mental disorders: a genetics-first approach and the role of mouse models based on rare disease-susceptible genome variants. 解开精神障碍之谜：遗传学优先的方法和基于罕见疾病易感基因组变异的小鼠模型的作用。

IF 0.9 4区医学

Nagoya Journal of Medical Science Pub Date : 2025-05-01 DOI: 10.18999/nagjms.87.2.196

Reon Kondo, Daisuke Mori, Hiroaki Wake, Norio Ozaki

{"title":"Unraveling the enigma of mental disorders: a genetics-first approach and the role of mouse models based on rare disease-susceptible genome variants.","authors":"Reon Kondo, Daisuke Mori, Hiroaki Wake, Norio Ozaki","doi":"10.18999/nagjms.87.2.196","DOIUrl":"10.18999/nagjms.87.2.196","url":null,"abstract":"Mental disorders are a major global cause of disability that involve significant disturbances in thinking, emotional regulation, or behavior. The pathogenesis of these illnesses is complicated by their obscure nature and lack of biological markers. A genetics-first approach has been proposed to address this complexity. This approach associates clinical phenotypes with disease-susceptible genomic variants, such as copy number variations and single nucleotide variants. These rare variants significantly affect disease development and are thus crucial for assessing the effects of specific variants on disease and in determining the underlying biological mechanisms. In particular, mouse models that reflect these variants are instrumental in defining the causal relationships between genetic variants and disease-relevant phenotypes. Recent studies have highlighted the importance of sensory information processing in humans and mice. Advanced technologies that are valuable in unraveling the neural circuit mechanisms of these phenotypes include optogenetics and in vivo 2-photon imaging. Furthermore, mouse models can guide the integration of findings from patients and induced pluripotent stem cells, supporting a multidimensional approach to understanding the pathophysiology of mental disorders. In this review, we briefly discuss the utility of mouse models in a genetics-first approach to elucidate the pathophysiology of mental disorders. We also present examples of our mouse models based on rare disease-susceptible variants.","PeriodicalId":49014,"journal":{"name":"Nagoya Journal of Medical Science","volume":"87 2","pages":"196-210"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12320339/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144790438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Long non-coding RNA taurine upregulated 1 regulates the progression of head and neck cancer. 长链非编码RNA牛磺酸上调1调控头颈癌的进展。

IF 0.9 4区医学

Nagoya Journal of Medical Science Pub Date : 2025-05-01 DOI: 10.18999/nagjms.87.2.211

Kohei Nioka, Norihisa Ichimura, Shohei Ikutomi, Hideharu Hibi

{"title":"Long non-coding RNA taurine upregulated 1 regulates the progression of head and neck cancer.","authors":"Kohei Nioka, Norihisa Ichimura, Shohei Ikutomi, Hideharu Hibi","doi":"10.18999/nagjms.87.2.211","DOIUrl":"10.18999/nagjms.87.2.211","url":null,"abstract":"Taurine upregulated 1 (TUG1), whose function is associated with tumor development, is a relatively new long non-coding RNA. TUG1 is overexpressed in multiple types of cancers. However, in head and neck squamous cell carcinoma (HNSCC), the behavior of TUG1 has not yet been completely elucidated. Therefore, we aimed to clarify the function of TUG1 in HNSCC and develop a novel therapeutic target. We analyzed the expression levels of TUG1 in patients with HNSCC using The Cancer Genome Atlas dataset and human oral keratinocytes, and five HNSCC cell lines (HSC-4, Sa3, HSQ-89, SAS, and Ca9-22) through quantitative reverse-transcription polymerase chain reaction. The biological role of TUG1 in HNSCC was investigated using cell growth and migration assays with antisense oligonucleotides in Ca9-22 and SAS cell lines. TUG1 target genes were identified via microarray analysis. The TUG1 expression level was considerably higher in tumor than in normal tissues, and the same result was observed in human oral keratinocytes and all HNSCC cell lines. TUG1 knockdown dramatically inhibited cell proliferation and migration. Furthermore, we identified nemo-like kinase, which may change in tandem with TUG1 expression. Our findings indicate the possibility for targeting the TUG1-nemo-like kinase axis as a novel approach for the treatment of HNSCC.","PeriodicalId":49014,"journal":{"name":"Nagoya Journal of Medical Science","volume":"87 2","pages":"211-219"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12320279/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144790533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Environmental intervention for two cases of non-tuberculous mycobacterial disease. 环境干预对2例非结核分枝杆菌病的影响。

IF 0.9 4区医学

Nagoya Journal of Medical Science Pub Date : 2025-05-01 DOI: 10.18999/nagjms.87.2.351

Yuka Kodama, Chiyako Oshikata, Kosuke Terada, Yuga Yamashita, Ryo Nakadegawa, Hinako Masumitsu, Yuto Motobayashi, Reeko Osada, Hirokazu Takayasu, Nami Masumoto, Takeshi Kaneko, Naomi Tsurikisawa

{"title":"Environmental intervention for two cases of non-tuberculous mycobacterial disease.","authors":"Yuka Kodama, Chiyako Oshikata, Kosuke Terada, Yuga Yamashita, Ryo Nakadegawa, Hinako Masumitsu, Yuto Motobayashi, Reeko Osada, Hirokazu Takayasu, Nami Masumoto, Takeshi Kaneko, Naomi Tsurikisawa","doi":"10.18999/nagjms.87.2.351","DOIUrl":"10.18999/nagjms.87.2.351","url":null,"abstract":"Non-tuberculous Mycobacterium avium complex (MAC) disease is caused by inhalation of water or soil dust containing MAC bacteria. Treatment of MAC disease should include not only drug treatment, usually a three-drug regimen consisting of a macrolide, ethambutol, and a rifamycin, but also environmental intervention. However, there is no standardized approach to environmental evaluation or remediation of potentially harmful exposures from potting soils in home or workplace environments for patients with non-tuberculous mycobacterial infection. We present two patients with MAC disease who were positive for anti-MAC antibodies but had no culturable mycobacteria in sputum. One patient discontinued gardening, and the other patient moved her many indoor plants outside. Both patients subsequently had decreased sputum, and subsequent chest computed tomography showed decreased ground-glass opacities, consolidation, and small nodules. Environmental intervention may therefore be sufficient treatment for mild MAC disease.","PeriodicalId":49014,"journal":{"name":"Nagoya Journal of Medical Science","volume":"87 2","pages":"351-359"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12320278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144790530","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A case of innominate artery aneurysm in a pregnant woman treated by endovascular stent grafting. 血管内支架植入术治疗孕妇无名动脉瘤1例。

IF 0.9 4区医学

Nagoya Journal of Medical Science Pub Date : 2025-05-01 DOI: 10.18999/nagjms.87.2.374

Noriko Yura, Hiromasa Kira, Yoshitsugu Chigusa, Masahide Kawatou, Nozomi Kubo, Maya Komatsu, Masahito Takakura, Haruta Mogami, Kenji Minatoya, Masaki Mandai

{"title":"A case of innominate artery aneurysm in a pregnant woman treated by endovascular stent grafting.","authors":"Noriko Yura, Hiromasa Kira, Yoshitsugu Chigusa, Masahide Kawatou, Nozomi Kubo, Maya Komatsu, Masahito Takakura, Haruta Mogami, Kenji Minatoya, Masaki Mandai","doi":"10.18999/nagjms.87.2.374","DOIUrl":"10.18999/nagjms.87.2.374","url":null,"abstract":"Innominate artery aneurysms are rare, accounting for only 0.26% of all aneurysms. Although usually asymptomatic, they carry a significant risk of rupture, which can be fatal, making timely diagnosis and treatment essential. There is limited literature on the management of innominate artery aneurysms during pregnancy, and no established treatment guidelines exist. In this case, a 42-year-old multigravida woman was diagnosed with an innominate artery aneurysm four years prior to pregnancy. Genetic panel testing ruled out inherited connective tissue disorders, including Marfan syndrome. The aneurysm measured 24 × 36 mm and possessed a saccular configuration. At 23 weeks of gestation, due to the high risk of rupture, the patient underwent successful endovascular stent grafting without complications. Later, the patient developed preeclampsia and fetal growth restriction, necessitating an emergency cesarean section at 33 weeks. A female infant was delivered, and both mother and neonate were discharged without further complications. Open surgical intervention with cardiopulmonary bypass is the standard therapeutic approach for innominate artery aneurysms. However, maternal and fetal mortality rates associated with cardiopulmonary bypass during pregnancy are high. This case suggests that although innominate artery aneurysms during pregnancy are exceedingly rare, endovascular repair with stent grafting may be a viable treatment option to avoid the serious maternal and fetal risks associated with aneurysm rupture or open surgical repair.","PeriodicalId":49014,"journal":{"name":"Nagoya Journal of Medical Science","volume":"87 2","pages":"374-379"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12320280/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144790522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

High-dose-rate surface mold with tumor translucency brachytherapy for a 103-year-old patient with skin cancer, dementia, tremor, and kyphosis: a case report. 高剂量率表面霉菌伴肿瘤半透明近距离放射治疗103岁伴有皮肤癌、痴呆、震颤和脊柱后凸的患者一例报告。

IF 0.9 4区医学

Nagoya Journal of Medical Science Pub Date : 2025-05-01 DOI: 10.18999/nagjms.87.2.360

Masataka Nakai, Ken Yoshida, Tadayuki Kotsuma, Yuji Takaoka, Hironori Akiyama, Kentaro Ozawa, Eiichi Tanaka

{"title":"High-dose-rate surface mold with tumor translucency brachytherapy for a 103-year-old patient with skin cancer, dementia, tremor, and kyphosis: a case report.","authors":"Masataka Nakai, Ken Yoshida, Tadayuki Kotsuma, Yuji Takaoka, Hironori Akiyama, Kentaro Ozawa, Eiichi Tanaka","doi":"10.18999/nagjms.87.2.360","DOIUrl":"10.18999/nagjms.87.2.360","url":null,"abstract":"Cancer treatment for centenarians can be challenging. High-dose-rate surface mold brachytherapy is a non-invasive, radical treatment modality for surface cancer. Further, it is used for patients who cannot remain at rest or have poor posture. We performed this treatment on a 103-year-old female patient with forehead skin cancer, dementia, tremors, and kyphosis since radical surgery and external beam radiotherapy were not feasible. A custom-made surface mold with tube applicators was developed with vinyl sheet and silicone. The vinyl sheet was utilized to enable tumor visualization through the mold and to confirm the tumor position relative to the mold. The mold with tumor translucency was fixed to the tumor surface, and the radioisotope (Ir-193) was sent remotely through tube applicators for irradiation. The planning-aim doses were 48 Gy in eight fractions. The positional relationship between the mold and the tumor was confirmed similarly during irradiation by checking them through the vinyl sheet before and after irradiation. We treated the patient, although she was in constant motion during irradiation. The local tumor was well-controlled without any metastatic disease evidence. The tumor disappeared before her eventual death 11 months post-treatment. No serious adverse events were reported during the follow-up period. Our results indicate that high-dose-rate surface mold with tumor translucency brachytherapy is an effective cancer treatment for centenarians with dementia, tremors, and kyphosis.","PeriodicalId":49014,"journal":{"name":"Nagoya Journal of Medical Science","volume":"87 2","pages":"360-367"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12320356/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144790531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Comparative outcomes of in-situ fixation and fixation after reduction in geriatric patients with severe valgus-impacted femoral neck fractures: a retrospective multicenter (TRON group) study. 一项回顾性多中心（TRON组）研究：严重外翻冲击型股骨颈骨折的老年患者复位后原位固定和固定的比较结果

IF 0.9 4区医学

Nagoya Journal of Medical Science Pub Date : 2025-05-01 DOI: 10.18999/nagjms.87.2.295

Tatsuya Nobori, Yasuhiko Takegami, Katsuhiro Tokutake, Hiroaki Nakashima, Kenichi Mishima, Masanori Okamoto, Nobuyuki Okui, Shiro Imagama

{"title":"Comparative outcomes of in-situ fixation and fixation after reduction in geriatric patients with severe valgus-impacted femoral neck fractures: a retrospective multicenter (TRON group) study.","authors":"Tatsuya Nobori, Yasuhiko Takegami, Katsuhiro Tokutake, Hiroaki Nakashima, Kenichi Mishima, Masanori Okamoto, Nobuyuki Okui, Shiro Imagama","doi":"10.18999/nagjms.87.2.295","DOIUrl":"10.18999/nagjms.87.2.295","url":null,"abstract":"The objective of this study was to evaluate and compare the clinical and radiographic outcomes between in situ fixation and fixation after reduction of severe valgus-impacted femoral neck fractures in patients aged 65 years or older. This was a multicenter retrospective study of 561 patients who underwent open reduction and internal fixation for femoral neck fracture. From this population, we selected patients aged 65 years and older with severe valgus-impacted femoral neck fractures characterized by a Garden alignment index greater than 15 degrees compared to that on the non-injury side. After exclusion criteria were applied, the study included 92 patients who were categorized into two groups: in situ fixation group (n = 56) and fixation after reduction group (n = 36). Our analysis covered patient demographics, surgical details, postoperative complications, radiographic evaluations, Numeric Rating Scale for pain, and Parker's Mobility Score for clinical outcomes. Bone union was achieved in all patients. The incidence of avascular necrosis was consistent between the groups. Patients in the reduction group reported lower Numeric Rating Scale scores (mean: 0 vs 2, p = 0.003) and higher Parker's Mobility Score scores (mean: 7 vs 6, p = 0.009) compared with the in situ group. Radiographically, the reduction group showed significantly lower femoral neck shortening (mean: 4.75 mm vs 5.75 mm, p = 0.049) and a reduced length of cannulated cancellous screw backout (mean: 3.4 mm vs 5.4 mm, p = 0.007) at the final follow-up. Fixation after reduction for severe valgus-impacted femoral neck fractures in patients aged 65 and above appears to be a safe and effective approach.","PeriodicalId":49014,"journal":{"name":"Nagoya Journal of Medical Science","volume":"87 2","pages":"295-304"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12320319/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144790526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Factors associated with decline in activities of daily living in home-based medical care. 与家庭医疗服务中日常生活活动减少有关的因素。

IF 0.9 4区医学

Nagoya Journal of Medical Science Pub Date : 2025-02-01 DOI: 10.18999/nagjms.87.1.173

Masaaki Nagae, Hiroyuki Umegaki, Hitoshi Komiya, Kazuhisa Watanabe, Yosuke Yamada

引用次数: 0

16p13.11 microduplication with growth retardation and developmental disorders: a case report and literature review. 16p13.11微复制伴生长迟缓和发育障碍1例报告并文献复习。

IF 0.9 4区医学

Nagoya Journal of Medical Science Pub Date : 2025-02-01 DOI: 10.18999/nagjms.87.1.144

Daisuke Watanabe, Hideaki Yagasaki, Hiromune Narusawa, Takeshi Inukai

{"title":"16p13.11 microduplication with growth retardation and developmental disorders: a case report and literature review.","authors":"Daisuke Watanabe, Hideaki Yagasaki, Hiromune Narusawa, Takeshi Inukai","doi":"10.18999/nagjms.87.1.144","DOIUrl":"https://doi.org/10.18999/nagjms.87.1.144","url":null,"abstract":"Short stature and growth retardation is a common condition in children. Genetic variations are responsible for many cases of short stature of unknown etiology. In particular, pathogenic copy number variants (CNVs) have been found in 10%-16% of children with unexplained short stature. This paper reports on a 5-year-old Japanese girl with both growth retardation and developmental delay associated with a 16p13.11 microduplication. Although the patient's mother also carries this microduplication, she did not show growth retardation and developmental delay. These cases illustrate the diverse phenotypic manifestations of 16p13.11 microduplication. Consequently, we conducted the literature review of 274 cases associated with this duplication revealed neurological disorders in approximately 70% of cases, 15.3% of these cases were associated with short stature. Diagnosis of 16p13.11 microduplication remains challenging due to its diverse symptomatology and elusive genotype-phenotype correlations. Comprehensive genetic evaluation is crucial for patients presenting with short stature and developmental disorders, underscoring the need for further investigation into the 16p13.11 microduplication to clarify its specific role and implications.","PeriodicalId":49014,"journal":{"name":"Nagoya Journal of Medical Science","volume":"87 1","pages":"144-149"},"PeriodicalIF":0.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12003995/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0