Review
Clinical Neurology
Stephane Mathis, Fanny Duval, Antoine Soulages, Guilhem Sole, Gwendal Le Masson
Summary: Ataxia is a frequent symptom in neurological cases with various causes. Sensory ataxia is often observed in conditions affecting the central and peripheral nervous systems. Main causes of ataxic neuropathies can be identified by examining the location of lesions and the timing of their occurrence in peripheral neuropathy cases.
JOURNAL OF NEUROLOGY
(2021)
Review
Geriatrics & Gerontology
Kam Chun Ho, Preeti Gupta, Eva K. Fenwick, Ryan E. K. Man, Alfred T. L. Gan, Ecosse L. Lamoureux
Summary: This article presents a systematic review on the relationships between sensory impairments (vision, hearing, smell, and taste) and sarcopenia and its associated components. The review suggests a potential association between single or multiple sensory impairments and sarcopenia, especially for vision, hearing, and smell. Further prospective studies are needed to better understand the relationship between sensory impairment and sarcopenia.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2022)
Article
Geriatrics & Gerontology
Alessandro Morandi, Marco Inzitari, Cristina Udina, Neus Gual, Miriam Mota, Elena Tassistro, Anita Andreano, Antonio Cherubini, Simona Gentile, Enrico Mossello, Alessandra Marengoni, Anna Olive, Francesc Riba, Domingo Ruiz, Elisabet de Jaime, Giuseppe Bellelli
Summary: This study investigated the association between sensory deficits and delirium, finding a link between bi-sensory impairment and delirium, while visual or hearing impairment alone did not show a significant association with delirium. Routine screening and specific interventions are recommended for optimal management of sensory impairments in patients with delirium.
JOURNAL OF THE AMERICAN MEDICAL DIRECTORS ASSOCIATION
(2021)
Article
Neurosciences
Christina S. Dintica, Amaia Calderon-Larranaga, Davide Liborio Vetrano, Weili Xu
Summary: This study examined the relationship between sensory impairment and dementia, and whether social network and leisure activity could moderate this association. The results showed that dual impairment in hearing and vision was associated with a higher risk of dementia. However, having a richer social network and engaging in stimulating activities could help mitigate this risk in older adults with dual impairment.
JOURNAL OF ALZHEIMERS DISEASE
(2023)
Article
Geriatrics & Gerontology
Hongguo Rong, Xiao Wang, Xiaozhen Lai, Weijie Yu, Yutong Fei
Summary: The study found that both short and long sleep duration were associated with a higher risk of visual and hearing impairments. Women and individuals over the age of 60 were more sensitive to short sleep duration and had a higher risk of sensory impairments.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Geriatrics & Gerontology
Alexander Pabst, Jonathan Baer, Susanne Roehr, Margrit Loebner, Luca Kleineidam, Kathrin Heser, Andre Hajek, Carolin van Der Leeden, Birgitt Wiese, Wolfgang Maier, Matthias C. Angermeyer, Martin Scherer, Michael Wagner, Hans-Helmut Konig, Steffi G. Riedel-Heller
Summary: The study found that hearing impairment is associated with an increased incidence of all-cause dementia in older adults, while visual impairment is not. There is no significant interaction between hearing impairment and visual impairment.
JOURNAL OF THE AMERICAN GERIATRICS SOCIETY
(2021)
Article
Clinical Neurology
Chelsea Liu, Niranjani Nagarajan, Lama Assi, Kening Jiang, Danielle S. Powell, Emily Pedersen, Lori Rosman, Dillan Villavisanis, Michelle C. Carlson, Bonnielin K. Swenor, Jennifer A. Deal
Summary: There is variation in methods used to assess sensory impairment in studies measuring cognitive function among older adults. Standardized protocols are needed to ensure equitable inclusion of study participants.
ALZHEIMERS & DEMENTIA
(2022)
Article
Geriatrics & Gerontology
Nicole M. Armstrong, Camila Vieira Ligo Teixeira, Colby Gendron, Willa D. Brenowitz, Frank R. Lin, Bonnelin Swenor, Jennifer A. Deal, Eleanor M. Simonsick, Richard N. Jones
Summary: This study found that objectively measured dual sensory impairment (DSI) is associated with increased risk of mobility difficulty and activities of daily life (ADL) difficulty. DSI is associated with a higher risk of incident mobility and ADL difficulty, while single sensory impairments, such as vision impairment or hearing impairment, are not associated with these outcomes.
JOURNAL OF THE AMERICAN GERIATRICS SOCIETY
(2022)
Article
Psychiatry
Milou A. Buijk, Rene F. Lauw, Jan Adriaan F. Coebergh, Ouarda Bouachmir, Mascha M. J. Linszen, Jan Dirk Blom
Summary: Musical hallucinations typically do not involve delusions, but sometimes patients develop secondary delusions and lack insight. This study found that cognitive impairment may contribute to these symptoms, and antipsychotic medications can have a positive effect. However, further research is needed to understand the underlying mechanism and develop effective treatment methods.
FRONTIERS IN PSYCHIATRY
(2023)
Article
Genetics & Heredity
Khurram Liaqat, Shabir Hussain, Anushree Acharya, Abdul Nasir, Thashi Bharadwaj, Muhammad Ansar, Sulman Basit, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal
Summary: This study reports a new likely pathogenic variant in the PSAP gene that causes atypical Gaucher disease in a Pakistani family with prelingual profound sensorineural hearing impairment, vestibular dysfunction, hepatosplenomegaly, kyphosis, and thrombocytopenia.
Article
Geriatrics & Gerontology
Kouki Tomida, Sangyoon Lee, Seongryu Bae, Keitaro Makino, Ippei Chiba, Kenji Harada, Osamu Katayama, Masanori Morikawa, Hiroyuki Shimada
Summary: This study found that dual sensory impairment (DSI) may restrict various activities and narrow the mobility of older adults' life space. Prevention of DSI may be an important factor for community-dwelling older adults to maintain a more active lifestyle.
Letter
Otorhinolaryngology
Virgil K. DeMario, Alexander S. Kim, Jennifer A. Deal, Bonnielin K. Swenor, Carrie L. Nieman
Summary: This study examines hearing testing and hearing aid use among older adults with dual sensory impairment compared with individuals with hearing loss alone in a US-based nationally representative sample.
JAMA OTOLARYNGOLOGY-HEAD & NECK SURGERY
(2022)
Article
Geriatrics & Gerontology
Xinyu Zhang, Yueye Wang, Wei Wang, Wenyi Hu, Xianwen Shang, Huan Liao, Yifan Chen, Katerina V. Kiburg, Yu Huang, Xueli Zhang, Shulin Tang, Honghua Yu, Xiaohong Yang, Mingguang He, Zhuoting Zhu
Summary: This study investigated the impact of single and/or dual sensory impairment on the risk of mortality in a large UK population, with findings indicating a higher risk of mortality for individuals with dual sensory impairment.
Article
Green & Sustainable Science & Technology
Chung Shing Chan, Kwo Fung Shek, Dora Agapito
Summary: This paper compares the sensory experience creation process between visitors with hearing impairment and general visitors in Hong Kong Wetland Park. The findings suggest significant differences in experienced tactile sense, interactions with other visitors, and feelings of attachment to the park between visitors with hearing impairment and general visitors.
Article
Ecology
Chung-Shing Chan, Kwo Fung Shek, Dora Agapito
Summary: This study investigates the multi-sensory experience of visitors with hearing impairment in Hong Kong Wetland Park. The results show that tactile experience is relatively rich for the participants compared to other non-visual senses. A combination of different stimuli, with visual, auditory, and tactile elements being prominent, can be found in the park.
LANDSCAPE AND URBAN PLANNING
(2022)
Article
Genetics & Heredity
Mariko Okubo, Satoru Noguchi, Tomonari Awaya, Motoyasu Hosokawa, Nobue Tsukui, Megumu Ogawa, Shinichiro Hayashi, Hirofumi Komaki, Madoka Mori-Yoshimura, Yasushi Oya, Yuji Takahashi, Tetsuhiro Fukuyama, Michinori Funato, Yousuke Hosokawa, Satoru Kinoshita, Tsuyoshi Matsumura, Sadao Nakamura, Azusa Oshiro, Hiroshi Terashima, Tetsuro Nagasawa, Tatsuharu Sato, Yumi Shimada, Yasuko Tokita, Masatoshi Hagiwara, Katsuhisa Ogata, Ichizo Nishino
Summary: Dystrophinopathy is a disease caused by alterations in the DMD gene. In this study, a combined laboratory and computational analysis approach was used to identify disease-causing genomic variants and regulatory mechanisms underlying abnormal DMD transcript generation in genetically undiagnosed patients. Abnormal DMD transcripts were detected in the majority of cases, with exonization of intronic sequences, exon skipping, aberrant splicing, polyadenylation, and transcription termination identified as the underlying mechanisms. The findings of this study have important implications for therapeutic options for patients with Dystrophinopathy.
Editorial Material
Cardiac & Cardiovascular Systems
Angelo Auricchio
Article
Clinical Neurology
Kenichiro Taira, Madoka Mori-Yoshimura, Toshiyuki Yamamoto, Yasushi Oya, Ichizo Nishino, Yuji Takahashi
Summary: This study compared the swallowing function and muscle magnetic resonance imaging data between dysphagic patients with inclusion body myositis (IBM) with cricopharyngeal bar (CPB) (IBM-CPB(+), n=17) and IBM patients without CPB (IBM-CPB(-), n=28). The study found that IBM-CPB(+) patients were older at diagnosis, had more frequent obstruction-related dysphagia, stronger knee extension, and less intramuscular fatty infiltration in limb muscles compared to IBM-CPB(-) patients. These findings provide valuable information on the clinical heterogeneity of IBM and the subset of IBM-CPB(+) patients.
NEUROMUSCULAR DISORDERS
(2023)
Article
Cell Biology
Yuko Ohnuki, Shigeaki Suzuki, Akinori Uruha, Munenori Oyama, Shingo Suzuki, Jerzy K. Kulski, Ichizo Nishino, Takashi Shiina
Summary: Immune-mediated necrotizing myopathy (IMNM) is an autoimmune myositis characterized by muscle weakness, elevated creatine kinase levels, myofiber necrosis, and the presence of certain autoantibodies. This study investigated the association between IMNM and specific HLA alleles, and found that DRB1*08:03 was strongly associated with IMNM in adult patients. Subgroup analysis also identified higher risk alleles for collagen disease in adult patients (C*03:04) and for juvenile patients with anti-HMGCR antibody-positive IMNM (B*13:01 and C*03:04). These findings contribute to a better understanding of the HLA genetic background and features of IMNM.
Editorial Material
Religion
Benjamin Harrison
ECCLESIASTICAL LAW JOURNAL
(2023)
Article
Genetics & Heredity
Kodai Kume, Takashi Kurashige, Keiko Muguruma, Hiroyuki Morino, Yui Tada, Mai Kikumoto, Tatsuo Miyamoto, Silvia Natsuko Akutsu, Yukiko Matsuda, Shinya Matsuura, Masahiro Nakamori, Ayumi Nishiyama, Rumiko Izumi, Tetsuya Niihori, Masashi Ogasawara, Nobuyuki Eura, Tamaki Kato, Mamoru Yokomura, Yoshiaki Nakayama, Hidefumi Ito, Masataka Nakamura, Kayoko Saito, Yuichi Riku, Yasushi Iwasaki, Hirofumi Maruyama, Yoko Aoki, Ichizo Nishino, Yuishin Izumi, Masashi Aoki, Hideshi Kawakami
Summary: In this study, it was found that repeat expansion in LRP12 causes both ALS and OPDM, with the length of the repeat determining the specific phenotype. The presence of phosphorylated TDP-43 in iPS cell-derived motor neurons in LRP12-ALS replicated the pathological hallmark of ALS. Additionally, distinct differences in RNA foci and Muscleblind-like 1 aggregates were observed between LRP12-ALS and LRP12-OPDM.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Clinical Neurology
Jantima Tanboon, Rasha El Sherif, Michio Inoue, Mariko Okubo, Edoardo Malfatti, Ichizo Nishino
Article
Clinical Neurology
Jantima Tanboon, Michio Inoue, Shinya Hirakawa, Hisateru Tachimori, Shinichiro Hayashi, Satoru Noguchi, Naoko Okiyama, Manabu Fujimoto, Shigeaki Suzuki, Ichizo Nishino
Summary: This study aimed to describe ASS antibody-specific myopathology and evaluate the diagnostic utility of myofiber HLA-DR expression. The results showed that HLA-DR expression can help support ASS diagnosis and suggest the involvement of IFN-gamma in the pathogenesis of ASS.
Article
Clinical Neurology
Kazuki Yamada, Hiroaki Yaguchi, Megumi Abe, Kaede Ishikawa, Daiki Tanaka, Yuki Oshima, Akihiko Kudo, Hisashi Uwatoko, Shinichi Shirai, Ikuko Takahashi-Iwata, Masaaki Matsushima, Ichizo Nishino, Ichiro Yabe
CLINICAL NEUROLOGY AND NEUROSURGERY
(2023)
Article
Clinical Neurology
Atsushi Terayama, Keisuke Yoshikawa, Toru Michiura, Kanako Fujii, Rino Inada, Yoshiyuki Mitsui, Ichizo Nishino, Yoshitaka Nagai
Summary: This article reports a rare case of a 77-year-old woman with coexistence of myasthenia gravis (MG) and myositis. The patient presented with mild fatigable muscle weakness and diplopia. Serum creatine kinase was elevated and antibodies to acetyl-choline receptor (AChR), titin, and voltage-gated potassium channel 1.4 (Kv 1.4) were positive. Electromyography and nerve stimulations confirmed neuromuscular junction disorder. Muscle biopsy revealed clusters of histiocyte along the fascicles invading into endomysium.
CLINICAL NEUROLOGY AND NEUROSURGERY
(2023)
Editorial Material
Dentistry, Oral Surgery & Medicine
Paul Abbott, Hani Nazzal
DENTAL TRAUMATOLOGY
(2023)
Article
Medicine, General & Internal
Asami Munekane, Yutaka Ohsawa, Mariko Okubo, Taiji Nagai, Hirotake Nishimura, Ichizo Nishino, Yoshihide Sunada
Summary: We report a case of a patient diagnosed with Becker muscular dystrophy complicated with immune-mediated necrotizing myopathy. The patient showed elevated levels of serum anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody. Treatment with oral glucocorticoid and methotrexate partially improved the muscle weakness. Accurate diagnosis is crucial for therapeutic decisions in these cases.
Editorial Material
Psychology, Educational
Carmel Cefai
INTERNATIONAL JOURNAL OF EMOTIONAL EDUCATION
(2023)
Review
Biochemical Research Methods
Chiara Martinello, Emanuele Panza, Antonio Orlacchio
Summary: Investigating the shared pathogenetic mechanisms underlying different subtypes of HSP is crucial for understanding the disease and developing effective treatments. By examining disease-causing gene products and their associated functional pathways, new therapeutic targets can be identified, leading to potential advancements in HSP diagnosis and treatment.
EXPERT REVIEW OF PROTEOMICS
(2023)
Letter
Cardiac & Cardiovascular Systems
Yuji Nagatomo, Saeko Yoshizawa, Yasushi Oya, Ichizo Nishino
EUROPEAN HEART JOURNAL-CASE REPORTS
(2023)
