Article
Biochemistry & Molecular Biology
Maria Giulia Tullo, Emanuele Cerulli Irelli, Francesca Caramia, Gianmarco Tessari, Carlo Di Bonaventura, Rosaria Turchetta, Anna Teresa Giallonardo, Giovanna Palumbo, Simona Bianchi, Francesca Atturo, Marcella Nebbioso, Patrizia Mancini, Cecilia Guariglia, Fiorina Giona
Summary: Gaucher disease (GD) is a continuum of phenotypes with variable neurological and sensory involvement. This study found abnormalities in the nervous system, cognitive impairment, psychiatric disturbances, and sensory abnormalities in GD patients. The findings support the concept of GD as a spectrum of disease subtypes, highlighting the importance of periodic monitoring of cognitive, motor, mood, sleep, and sensory abnormalities in all GD patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Sheng-Peng Diao, Yang-Sha Zhuang, Ye-Qing Huang, Zhi-Hua Zhou, Ai-Qun Liu, Ming-Fan Hong
Summary: This study investigated the risk factors for neurological symptoms in patients with purely hepatic Wilson's disease (WD). It was found that insufficient doses of PCA and ZG, as well as the inferior efficacy of copper-chelating agents, were closely associated with the development of neurological symptoms in these patients. Close monitoring of the patient's medical status and copper excretion efficacy is necessary during anti-copper treatment.
Article
Immunology
Christiana Franke, Caroline Ferse, Jakob Kreye, S. Momsen Reincke, Elisa Sanchez-Sendin, Andrea Rocco, Mirja Steinbrenner, Stefan Angermair, Sascha Treskatsch, Daniel Zickler, Kai-Uwe Eckardt, Rick Dersch, Jonas Hosp, Heinrich J. Audebert, Matthias Endres, J. Christoph Ploner, Harald Pruess
Summary: The study on critically ill COVID-19 patients presenting with unexplained neurological symptoms found that all patients showed anti-neuronal autoantibodies in serum or CSF, which may be related to clinical symptoms, particularly hyperexcitability. Several underlying autoantigens and their potential molecular mimicry with SARS-CoV-2 still need further identification.
BRAIN BEHAVIOR AND IMMUNITY
(2021)
Review
Chemistry, Medicinal
Macarena Martinez-Bailen, Francesca Clemente, Camilla Matassini, Francesca Cardona
Summary: Pharmaceutical chaperones (PCs) are small compounds that can bind and stabilize misfolded proteins, helping them regain their native conformation and biological activity. They are especially beneficial in treating lysosomal storage disorders (LSDs) caused by genetic mutations. However, despite the importance of the GCase enzyme in treating LSDs and neurological disorders, no PC for this enzyme has been approved for market use. This review highlights the efforts made in the past 7 years to identify new PCs for the GCase enzyme, with a focus on glycomimetic-based compounds.
Article
Genetics & Heredity
Patrick Deegan, Aneal Khan, Jose Simon Camelo, Julie L. Batista, Neal Weinreb
Summary: The GRAF score is a tool that, when combined with bone density and other modifiable, non-GD-specific risk factors (such as smoking, alcohol intake, frailty), informs physicians and previously untreated GD1 patients about the risk of future fractures after starting imiglucerase, regardless of potential switch to alternative ERT or substrate reduction therapy. The GRAF score can also help predict the extent to which fracture risk increases with further delay in treatment initiation.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Health Care Sciences & Services
Sarah P. Maxwell, Chris Brooks, Connie L. McNeely, Kevin C. Thomas
Summary: Public health reports have limited information on the psychological and neurological symptoms of tick-borne diseases (TBDs). This study compares official public health information, case reports, medical literature, and self-reported symptoms, and finds that there is a need for improved diagnosis and communication regarding the wide range of associated symptoms. The study shows that patients' self-reported symptoms align with medical and case reports, highlighting the importance of revising the approach to TBD diagnosis.
Review
Biochemistry & Molecular Biology
Makaila L. Furderer, Ellen Hertz, Grisel J. Lopez, Ellen Sidransky
Summary: Deficiency of acid beta-glucocerebrosidase activity due to mutations in GBA1 causes Gaucher disease (GD). GD patients exhibit a wide range of symptoms, from asymptomatic adults to severe neurodegeneration. GBA1 variants are also important risk factors for several common Lewy body disorders (LBDs). Further neuropathological examinations in GD are needed to understand disease-specific patterns and mechanisms.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Oncology
Helga E. Laszlo, Edward Seward, Ruth M. Ayling, Jennifer Lake, Aman Malhi, Clare Stephens, Kathy Pritchard-Jones, Donna Chung, Allan Hackshaw, Michael Machesney
Summary: The study found that using FIT as a tool to rule out CRC comes with a certain miss rate, but combining it with other indicators such as anemia and abdominal pain can reduce the risk of missing cases. FIT can help concentrate medical resources on the most at-risk CRC patients, but further research on safety netting is needed before incorporating FIT triage into the diagnostic pathway.
BRITISH JOURNAL OF CANCER
(2022)
Article
Virology
Kalina Shishkova, Raina Gergova, Elena Tasheva, Stoyan Shishkov, Ivo Sirakov
Summary: The study aimed to investigate the presence of high-risk HPV genotypes in patients with periodontitis and a pronounced clinical picture. Significant differences were found in HPV positive results between the periodontitis positive group and the control group. The presence of high-risk HPV genotypes, associated with periodontitis-causing bacteria, was confirmed.
Article
Clinical Neurology
Kaiden Jobin, Meng Wang, Sane du Plessis, Noah D. Silverberg, Chantel T. Debert
Summary: This study found an association between functional neurological disorder (FND) and post-concussion symptoms, as well as symptoms of depression and anxiety in patients with persistent post-concussion symptoms (PPCS). Screening for FND should be conducted in PPCS patients and somatic-focused interventions should be included in their treatment approach.
NEUROREHABILITATION
(2023)
Article
Rehabilitation
Debasish Jena, Jagannatha Sahoo, Apurba Barman, Anil Gupta, Vikas Patel
Summary: This study investigated the prevalence of musculoskeletal and neurological pain symptoms among hospitalized COVID-19 patients. It found that pain symptoms are common manifestations of COVID-19, with generalized myalgia, headache, and low back pain being the most common symptoms. The study also revealed an association between pain symptoms and disease severity, male sex, higher body mass index, and a history of addiction.
AMERICAN JOURNAL OF PHYSICAL MEDICINE & REHABILITATION
(2022)
Article
Medicine, General & Internal
Jina Yeo, Inpyeong Hwang, Chul-Ho Sohn, Eunyoung Emily Lee, Soon-Tae Lee, Eun Bong Lee, Jin Kyun Park
Summary: This study suggests that PV-associated antiphospholipid syndrome (APS) may be a distinct extra-criteria manifestation of APS, characterized by long-segmental diffuse stenosis of cerebral and cervical arteries. It should be considered in relatively young patients with neurological symptoms and positive antiphospholipid antibodies.
FRONTIERS IN MEDICINE
(2022)
Article
Neurosciences
Gretel Sanabria-Diaz, Manina Maja Etter, Lester Melie-Garcia, Johanna M. M. Lieb, Marios-Nikos Psychogios, Gregor Hutter, Cristina Granziera
Summary: This study assessed the cortical gray matter volume, thickness, and surface area in SARS-CoV-2 infected patients with neurological symptoms. The findings suggest that viral-triggered inflammation leads to neurotoxic damage in certain cortical areas during the acute phase of the infection.
FRONTIERS IN NEUROSCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Lucie Dupuis, Margaux Chauvet, Emmanuelle Bourdelier, Michael Dussiot, Nadia Belmatoug, Caroline Le Van Kim, Arnaud Chene, Melanie Franco
Summary: Gaucher disease is a condition characterized by glucocerebrosidase deficiency, leading to the accumulation of sphingolipids in macrophages. This study demonstrates that red blood cells in Gaucher disease are more susceptible to phagocytosis by macrophages, which contributes to phenotypic modifications in macrophages and the formation of Gaucher-like cells.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Alexander Rau, Nils Schroeter, Ganna Blazhenets, Andrea Dressing, Lea Walter, Elias Kellner, Tobias Bormann, Hansjorg Mast, Dirk Wagner, Horst Urbach, Cornelius Weiller, Philipp T. Meyer, Marco Reisert, Jonas A. Hosp
Summary: Using diffusion microstructure imaging, researchers found widespread interstitial oedema in subacute COVID-19 inpatients, which is associated with cognitive impairment and changes in brain metabolism.
Article
Biotechnology & Applied Microbiology
Torayuki Okuyama, Yoshikatsu Eto, Norio Sakai, Kimitoshi Nakamura, Tatsuyoshi Yamamoto, Mariko Yamaoka, Toshiaki Ikeda, Sairei So, Kazunori Tanizawa, Hiroyuki Sonoda, Yuji Sato
Summary: The study demonstrated that pabinafusp alfa is a potentially effective treatment for both the central and peripheral symptoms of MPS-II patients, with the ability to cross the blood-brain barrier to reach the central nervous system. In the 52-week clinical trial, the drug showed relatively good efficacy and safety profiles.
Article
Pediatrics
Haruo Shintaku, Toshihiro Ohura, Masaki Takayanagi, Shigeo Kure, Misao Owada, Yoichi Matsubara, Makoto Yoshino, Yoshiyuki Okano, Tetsuya Ito, Torayuki Okuyama, Kimitoshi Nakamura, Masafumi Matuo, Fumio Endo, Hiroyuki Ida
Summary: The importance of sapropterin hydrochloride for the treatment of tetrahydrobiopterin-responsive hyperphenylalaninemia is highlighted, with recommendations to diagnose through tetrahydrobiopterin administration tests instead of relying on phenotype or blood phenylalanine levels. Treatment with sapropterin hydrochloride is feasible for all ages in cases of tetrahydrobiopterin-responsive hyperphenylalaninemia, and further investigation is needed despite reported efficacy and safety in preventing maternal phenylketonuria.
PEDIATRICS INTERNATIONAL
(2021)
Article
Clinical Neurology
Tomoko Kashiki, Jun Kido, Ken Momosaki, Shouichirou Kusunoki, Shiro Ozasa, Keiko Nomura, Atsuko Imai-Okazaki, Tomoko Tsuruoka, Kei Murayama, Yasutoshi Koga, Kimitoshi Nakamura
Summary: MTDPS-12A is characterized by severe hypotonia from birth due to a mutation in ANT1, and status epilepticus could cause encephalopathy in these patients. Reduce energy requirement on cardiac muscle and brain may be a treatment strategy for MTDPS-12A patients. Seizure management and preventive treatment of status epilepticus are considered important for maintaining neurodevelopmental outcomes.
BRAIN & DEVELOPMENT
(2022)
Article
Endocrinology & Metabolism
Jun Kido, Shirou Matsumoto, Johannes Haeberle, Yukihiro Inomata, Mureo Kasahara, Seisuke Sakamoto, Reiko Horikawa, Akihiro Tanemura, Hideaki Okajima, Tatsuya Suzuki, Kimitoshi Nakamura
Summary: Liver transplantation is effective for long-term survival and prevention of recurrent hyperammonemia in UCDs patients. However, it has limited effect on improving neurodevelopmental outcomes, especially for patients with severe disease, as hyperammonemia at the onset time can significantly impact the brain. Patients with ASSD may have a higher chance of survival without cognitive impairment if they receive early LT despite having severe neonatal hyperammonemia.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Genetics & Heredity
Jun Kido, Shirou Matsumoto, Tetsuya Ito, Shinichi Hirose, Kaori Fukui, Kanako Kojima-Ishii, Yuichi Mushimoto, Shinobu Yoshida, Mika Ishige, Norio Sakai, Kimitoshi Nakamura
Summary: Urea cycle disorders are inherited metabolic diseases that result in hyperammonemia and brain damage. A nationwide study in Japan from 2000 to 2018 provided insights into the diagnosis, treatments, and outcomes of UCD patients, revealing the impact on growth and social life of patients in Japan.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2021)
Article
Transplantation
Masayoshi Hamaguchi, Rieko Sakamoto, Kensaku Kohrogi, Takahiro Yamashita, Keishiro Furuie, Tadashi Anan, Kimitoshi Nakamura
Summary: Immuno-thrombocytopenic purpura is a potential complication after liver transplant, with therapy usually involving corticosteroids, intravenous immunoglobulin, and immunosuppressive drugs like cyclosporine and rituximab. Switching from tacrolimus to cyclosporine may lead to complete remission in some cases of intractable immuno-thrombocytopenic purpura.
EXPERIMENTAL AND CLINICAL TRANSPLANTATION
(2021)
Article
Endocrinology & Metabolism
Jun Kido, Johannes Haberle, Keishin Sugawara, Toju Tanaka, Masayoshi Nagao, Takaaki Sawada, Yoichi Wada, Chikahiko Numakura, Kei Murayama, Yoriko Watanabe, Kanako Kojima-Ishii, Hideo Sasai, Kiyotaka Kosugiyama, Kimitoshi Nakamura
Summary: This study investigates the clinical manifestations, medical therapy, and long-term outcome in 222 Japanese patients with citrin deficiency. The results show that patients with citrin deficiency have an increased risk for low weight and length at birth, and citrullinemia patients have an increased risk for growth impairment during adolescence. Liver transplantation has shown positive outcomes in a small number of patients.
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Article
Pediatrics
Masanori Iwai, Hidetaka Yoshimatsu, Tetsuo Naramura, Hiroko Imamura, Tomomi Nakamura, Rieko Sakamoto, Takeshi Inoue, Kenichi Tanaka, Shirou Matsumoto, Kimitoshi Nakamura, Hiroshi Mitsubuchi
Summary: This study investigated the relationship between serum procalcitonin (PCT) and C-reactive protein (CRP) levels and the severity of postnatal respiratory conditions in preterm neonates. The results showed that serum PCT levels were associated with the severity of respiratory conditions in preterm neonates.
PEDIATRIC PULMONOLOGY
(2022)
Editorial Material
Pediatrics
Yuya Kinoshita, Ken Momosaki, Shirou Matsumoto, Kei Murayama, Kimitoshi Nakamura
PEDIATRICS INTERNATIONAL
(2022)
Article
Immunology
Yusuke Miyashita, Takanobu Yoshida, Yuriko Takagi, Hirotake Tsukamoto, Ken Takashima, Takahisa Kouwaki, Katsunari Makino, Satoshi Fukushima, Kimitoshi Nakamura, Hiroyuki Oshiumi
Summary: The study found that EV miR-92a-2-5p levels in serum were negatively correlated with adverse reactions after COVID-19 vaccination, while EV miR-148a levels were associated with specific antibody titers. This suggests that circulating EV miRNAs could serve as biomarkers for vaccine efficacy and adverse reactions.
Article
Biology
Yusuke Miyashita, Takahisa Kouwaki, Hirotake Tsukamoto, Masaaki Okamoto, Kimitoshi Nakamura, Hiroyuki Oshiumi
Summary: TICAM-1 acts as a negative regulator in IL-17A-mediated inflammatory responses by inhibiting the interaction between IL-17RA and Act1.
LIFE SCIENCE ALLIANCE
(2022)
Article
Clinical Neurology
Yoshihiko Saito, Kimitoshi Nakamura, Tokiko Fukuda, Hideo Sugie, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino
Summary: This study investigated the prevalence of Pompe disease in Japan and concluded that it is less prevalent compared to neighboring countries. Muscle biopsy was found to be an accurate method for diagnosing the disease.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Hematology
Mao Shimizu, Hideki Fujii, Keiji Kono, Kentaro Watanabe, Shunsuke Goto, Kandai Nozu, Kimitoshi Nakamura, Shinichi Nishi
Summary: This study did not identify any Fabry disease patients among male hemodialysis patients in Awaji Island, Japan, despite some patients having a family history of kidney and cardiovascular diseases. Although a few patients had low levels of alpha-galactosidase A activity, none of them tested positive in secondary screening.
THERAPEUTIC APHERESIS AND DIALYSIS
(2022)
Article
Genetics & Heredity
Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Shirou Matsumoto, Tomoyuki Shimazu, Yuki Matsushita, Takahito Inoue, Shinichi Hirose, Fumio Endo, Kimitoshi Nakamura
Summary: Gaucher disease is a genetic disorder classified into three types, with limited treatment options, especially for neurological symptoms. Japan has a higher number of patients with neurological symptoms, but newborn screening is not widely performed. The frequency of GD diagnosis through NBS is higher than previously estimated in Japan, and the future of NBS for GD in Japan looks promising.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2022)
Article
Pediatrics
Tetsuo Naramura, Hiroko Imamura, Hidetaka Yoshimatsu, Kaname Hirashima, Shinji Irie, Takeshi Inoue, Kenichi Tanaka, Hiroshi Mitsubuchi, Kimitoshi Nakamura, Masanori Iwai
Summary: This study found that serum procalcitonin levels in preterm neonates are influenced by respiratory failure, and have a better predictive value for bacterial infections compared to high-sensitivity C-reactive protein.
