Satomi Okano

P0339 Unmasking the faces of Severe Colitis: A data-driven approach to defining Ulcerative Colitis phenotypes and predicting clinical outcomes

Amirah Etchegaray, Naeman Goetz, Satomi Okano, Günter Härtel et autres

Abstract Background The clinical heterogeneity of acute Ulcerative Colitis (UC) poses a notable challenge to effective risk stratification and timely intervention. Existing severity indices derived in the 20th century may be obfuscated by the effects of novel therapeutics and fail to capture …

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P1236 Incidence and prevalence of complicated inflammatory bowel disease in Queensland, Australia: a population-based data linkage study

George Tambakis, Satomi Okano, Günter Härtel, Raman Kumar et autres

Abstract Background Inflammatory bowel disease (IBD), including ulcerative colitis (UC), Crohn’s disease (CD) represents a spectrum of chronic inflammatory conditions affecting the gastrointestinal tract. Whilst some patients experience a benign disease course, others develop complicated IBD characterised by frequent hospitalisations and surgery. …

au (code pays fourni par la source)

P0465 Impact of Body Mass Index and Obesity on CRP as a Predictor of Steroid Failure in Acute Severe Ulcerative Colitis: An Exploratory Analysis

Naeman Goetz, Satomi Okano, Günter Härtel, George Tambakis et autres

Abstract Background Baseline C-reactive protein (CRP) is a well-established biomarker for assessing corticosteroid response in acute severe ulcerative colitis (ASUC). With 56% of Australian inflammatory bowel disease (IBD) patients classified as overweight or obese, understanding how excess adiposity influences treatment response is …

au (code pays fourni par la source)

ATP1A3 potentially causes hereditary spastic paraplegia: A case report of a patient presenting with lower limb spasticity and intellectual disability

Satomi Okano, Yoshio Makita, Yuki Ueda, Akie Miyamoto et autres

Sodium/potassium (Na+/K+) ATPase is a heteromeric protein complex responsible for maintaining the Na+/K+ electrochemical gradient across the neuronal plasma membrane. The α3 isoform of the Na+/K+ ATPase, encoded by ATP1A3, acts as a rescue pump and is predominantly present in the neurons …

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High Technical Success Rate of Endoscopic Balloon Dilatation Reduces Surgical Requirement for Patients With Stricturing Crohn’s Disease

Emily Lim, Maxter Thai, Yoon‐Kyo An, Peter J Hendy et autres

Background: Endoscopic balloon dilatation (EBD) is an alternative therapy to avoid or delay surgery in stricturing Crohn’s disease (CD); however, certain factors determining outcomes remain poorly defined, and conflicting evidence exists in current studies. In one of the largest cohorts to date, …

au, gb, nz (code pays fourni par la source)

Questionnaire survey on sleep habits of 3-year-old children in Asahikawa City: Comparison between 2005 and 2020

Satomi Okano, Araki Akiko, Kayano Kimura, Ikue Fukuda et autres

jp (code pays fourni par la source)

GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy

Satomi Okano, Yoshio Makita, Akie Miyamoto, Genya Taketazu et autres

The X-linked human glutamate receptor subunit 3 (GRIA3) gene (MIM *305915, Xq25) encodes ionotropic α amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA)-type glutamate receptor subunit 3, which mediates postsynaptic neurotransmission. Variants in this gene can cause a variety of neurological disorders, primarily reported in male patients. …

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Wisconsin syndrome with brain volume laterality: a case report and review of the literature

Satomi Okano, Yoshio Makita, Kayano Kimura, Ikue Fukuda et autres

BACKGROUND: Wisconsin syndrome is a congenital anomaly caused by a 3q interstitial deletion. It is associated with characteristic facies and developmental delays. Only 33 cases with a deletion estimated to be in the associated region 3q25 have been reported. CASE REPORT: We …

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Severe gastrointestinal symptoms caused by a novel DDX3X variant

Satomi Okano, Akie Miyamoto, Yoshio Makita, Genya Taketazu et autres

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Ramelteon treatment for sleep disturbance in children with attention-deficit/hyperactivity disorder

Hajime Tanaka, Satomi Okano, Kimura Kayano, Ikue Fukuda et autres

Life-threatening muscle complications of COL4A1-related disorder

Satomi Okano, Sorachi Shimada, Ryosuke Tanaka, Akie Okayama et autres

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Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

Satomi Okano, Yoshio Makita, Akihiro Katada, Yasuaki Harabuchi et autres

Abstract Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Here, we report a 12-year-old female patient with typical USH1. Targeted panel sequencing revealed compound heterozygous variants of the Cadherin 23 …

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