Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report

Koyama, Shingo; Okabe, Yuma; Suzuki, Yuya; Igari, Ryosuke; Sato, Hiroyasu; Iseki, Chifumi; Tanji, Kazuyo; Suzuki, Kyoko; Ohta, Yasuyuki

doi:10.1186/s12883-022-02711-4

Cited by 3 publications

(3 citation statements)

References 20 publications

(33 reference statements)

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“…The second mutation was c.1420C>T (p.Arg474Trp), and these 2 sites are uncommon in Chinese individuals. Notably, c.1214G>A [9–12] and c.1420C>T [13–15] have been previously reported.…”

Section: Discussionmentioning

confidence: 99%

Cerebrotendinous xanthomatosis with tremor as the main manifestation: A case report

Zhao,

Han,

Tao

et al. 2024

Medicine

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Introduction: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid metabolism disorder. It is caused by a defect in the sterol-27-hydroxylase gene, leading to the deposition of cholesteryl and bile alcohol in large amounts, causing a variety of clinical manifestations; however, tremor as the main manifestation of CTX has not been reported. Patient’s concerns and clinical findings: Herein, we report a 27-year-old woman, who developed head and body tremors at the age of 12 years. Many hospitals misdiagnosed her condition as idiopathic tremor and Parkinson disease, with a poor curative effect. Primary diagnosis and intervention: We diagnosed her with CTX and treated with chenodeoxycholic acid and clonazepam. Conclusion: The patient’s condition considerably improved. This case could help avoid misdiagnosis and mistreatment in clinical practice.

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“…The second mutation was c.1420C>T (p.Arg474Trp), and these 2 sites are uncommon in Chinese individuals. Notably, c.1214G>A [9–12] and c.1420C>T [13–15] have been previously reported.…”

Section: Discussionmentioning

confidence: 99%

Cerebrotendinous xanthomatosis with tremor as the main manifestation: A case report

Zhao,

Han,

Tao

et al. 2024

Medicine

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“…Abbreviations: TDP-43, TAR DNA-binding protein 43. Next-generation sequencing technologies have now revealed gene mutations in patients without a family history [10,11] and genetic testing is being more widely used in the diagnosis of neurological diseases [12]. Of particular importance are compound heterozygous mutations.…”

Section: Importance Of Early Diagnosis In Perry Diseasementioning

confidence: 99%

Perry Disease: Bench to Bedside Circulation and a Team Approach

Mishima,

Yuasa-Kawada,

Fujioka

et al. 2024

Biomedicines

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With technological applications, especially in genetic testing, new diseases have been discovered and new disease concepts have been proposed in recent years; however, the pathogenesis and treatment of these rare diseases are not as well established as those of common diseases. To demonstrate the importance of rare disease research, in this paper we focus on our research topic, Perry disease (Perry syndrome). Perry disease is a rare autosomal dominant neurodegenerative disorder clinically characterized by parkinsonism, depression/apathy, weight loss, and respiratory symptoms including central hypoventilation and central sleep apnea. The pathological classification of Perry disease falls under TAR DNA-binding protein 43 (TDP-43) proteinopathies. Patients with Perry disease exhibit DCTN1 mutations, which is the causative gene for the disease; they also show relatively uniform pathological and clinical features. This review summarizes recent findings regarding Perry disease from both basic and clinical perspectives. In addition, we describe technological innovations and outline future challenges and treatment prospects. We discuss the expansion of research from rare diseases to common diseases and the importance of collaboration between clinicians and researchers. Here, we highlight the importance of researching rare diseases as it contributes to a deeper understanding of more common diseases, thereby opening up new avenues for scientific exploration.

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“…Artificial neural networks (ANNs) and support vector machines (SVMs) are the two commonly utilized classification techniques in the literature [22][23][24]. Many other studies related to gastrointestinal diseases such as polyp, colon, and capsule endoscopy have been conducted in the literature [25][26][27][28][29][30].…”

Section: Literature Reviewmentioning

confidence: 99%

Efficient Gastrointestinal Disease Classification Using Pretrained Deep Convolutional Neural Network

et al. 2023

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Gastrointestinal (GI) tract diseases are on the rise in the world. These diseases can have fatal consequences if not diagnosed in the initial stages. WCE (wireless capsule endoscopy) is the advanced technology used to inspect gastrointestinal diseases such as ulcerative-colitis, polyps, esophagitis, and ulcers. WCE produces thousands of frames for a single patient’s procedure for which manual examination is tiresome, time-consuming, and prone to error; therefore, an automated procedure is needed. WCE images suffer from low contrast which increases inter-class and intra-class similarity and reduces the anticipated performance. In this paper, an efficient GI tract disease classification technique is proposed which utilizes an optimized brightness-controlled contrast-enhancement method to improve the contrast of the WCE images. The proposed technique applies a genetic algorithm (GA) for adjusting the values of contrast and brightness within an image by modifying the fitness function, which improves the overall quality of WCE images. This quality improvement is reported using qualitative measures, such as peak signal to noise ratio (PSNR), mean square error (MSE), visual information fidelity (VIF), similarity index (SI), and information quality index (IQI). As a second step, data augmentation is performed on WCE images by applying multiple transformations, and then, transfer learning is used to fine-tune a modified pre-trained model on WCE images. Finally, for the classification of GI tract disease, the extracted features are passed through multiple machine-learning classifiers. To show the efficacy of the proposed technique in the improvement in classification performance, the results are reported for the original dataset as well as the contrast-enhanced dataset. The results show an overall improvement of 15.26% in accuracy, 13.3% in precision, 16.77% in recall rate, and 15.18% in F-measure. Finally, a comparison with the existing techniques shows that the proposed framework outperforms the state-of-the-art techniques.

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Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report

Cited by 3 publications

References 20 publications

Cerebrotendinous xanthomatosis with tremor as the main manifestation: A case report

Cerebrotendinous xanthomatosis with tremor as the main manifestation: A case report

Perry Disease: Bench to Bedside Circulation and a Team Approach

Efficient Gastrointestinal Disease Classification Using Pretrained Deep Convolutional Neural Network

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