Clinical Case Reports最新文献_第2页

Proteomic analysis of serum from a MeCP2 patient reveals an arginine biosynthesis pathway affected by the p.Lys254* variant

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Clinical Case Reports Pub Date : 2024-11-29 DOI: 10.1002/ccr3.9503

Xiaoqin Gong, Tuanmei Wang, Anji Chen, Geng Ouyang, Mengmei Lv, Jianxin Gao, Baomei Yu, Min Wu, Huaxue Qi, Yunsu Zhu, Jinjin Dai, Jun He, Jiyang Liu, Xiangwen Peng

{"title":"Proteomic analysis of serum from a MeCP2 patient reveals an arginine biosynthesis pathway affected by the p.Lys254* variant","authors":"Xiaoqin Gong, Tuanmei Wang, Anji Chen, Geng Ouyang, Mengmei Lv, Jianxin Gao, Baomei Yu, Min Wu, Huaxue Qi, Yunsu Zhu, Jinjin Dai, Jun He, Jiyang Liu, Xiangwen Peng","doi":"10.1002/ccr3.9503","DOIUrl":"https://doi.org/10.1002/ccr3.9503","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Key Clinical Message</h3>\u0000 \u0000 <p>This study reports a Chinese male patient with a novel MeCP2 p.Lys254*variant. Upon birth, the patient presented with typical symptoms, such as abnormal electroencephalogram, immature sleep rhythm, hypotonia, feeding difficulties, pulmonary fluid accumulation, horizontal fissures in the lungs, hypoventilation, and heart defects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 \u0000 <p>MeCP2 is a gene located on the X chromosome and the main pathogenic gene responsible for Rett syndrome, which mainly occurs in females. Herein, we identified a male patient with a novel MeCP2 p.Lys254* variant through whole-exome sequencing, although both parents are wild type. Upon birth, the patient presented with typical symptoms, such as abnormal electroencephalogram, immature sleep rhythm, hypotonia, feeding difficulties, pulmonary fluid accumulation, horizontal fissures in the lungs, hypoventilation, and other symptoms. Period of breathing support, but also found that the boy had a heart defect and horizontal fissure in the lungs. Our discovery of a new spontaneous MeCP2 nonsense mutation enriches the understanding of Rett syndrome and provides a reference for its early diagnosis and treatment.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"12 12","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.9503","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142754172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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Moyamoya Disease and Carotid Web in a Young Adult With Ischemic Stroke: A Case Report

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Clinical Case Reports Pub Date : 2024-11-29 DOI: 10.1002/ccr3.9653

Sheng Zhuang, Jiaping Xu, Yongjun Cao, Jijun Shi

引用次数: 0

Genetic Analysis of 17q Terminal Partial Trisomy

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Clinical Case Reports Pub Date : 2024-11-29 DOI: 10.1002/ccr3.9611

Huiling Zheng, Lin Zheng, Zhi Huang, Guangping Li, Daili Tang, Xue Yang, Tian Tian

{"title":"Genetic Analysis of 17q Terminal Partial Trisomy","authors":"Huiling Zheng, Lin Zheng, Zhi Huang, Guangping Li, Daili Tang, Xue Yang, Tian Tian","doi":"10.1002/ccr3.9611","DOIUrl":"https://doi.org/10.1002/ccr3.9611","url":null,"abstract":"<p>Chromosomal trisomy syndrome is associated with diverse clinical phenotypes, including intellectual disability. Partial trisomy of the distal 17q is a rare anomaly with similar clinical features, including psychomotor and growth deficits, facial dysmorphism, and microcephaly. Here, we describe three patients from two unrelated families with terminal trisomy 17q. We performed G-banding karyotype and chromosomal microarray analyses. The child in Family 1 had a 31.3 Mb mosaic duplication on chromosome 17. Family 2 comprised dizygotic twins with a 263 kb deletion on chromosome 15 and a 9.2 Mb duplication on chromosome 17; however, normal karyotyping results were obtained for both parents. We also analyzed the genetic mechanisms underlying the occurrence of these chromosomal aberrations and summarized the literature describing known genotype–phenotype correlations. Given the rarity of partial trisomy of terminal 17q, these cases will provide new insights into the diagnosis of this condition and genotype–phenotype correlations, which can aid in the detection of such conditions and genetic counseling.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"12 12","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.9611","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142749311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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Unilateral Extragenital Lichen Sclerosus Following Blaschko's Lines

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Clinical Case Reports Pub Date : 2024-11-29 DOI: 10.1002/ccr3.9581

Li Wu, Huiying Wang, Ruzhi Zhang

引用次数: 0

Maxillary Sinusitis Following Orthognathic Surgery: Should It Be Considered Odontogenic Sinusitis?

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Clinical Case Reports Pub Date : 2024-11-29 DOI: 10.1002/ccr3.9654

Giorgio Imbrogno, Andrea Lorenzi, Roberto Borloni, Riccardo Scaini, Tiziano Testori, Giovanni Felisati, Alberto Maria Saibene, John R. Craig

{"title":"Maxillary Sinusitis Following Orthognathic Surgery: Should It Be Considered Odontogenic Sinusitis?","authors":"Giorgio Imbrogno, Andrea Lorenzi, Roberto Borloni, Riccardo Scaini, Tiziano Testori, Giovanni Felisati, Alberto Maria Saibene, John R. Craig","doi":"10.1002/ccr3.9654","DOIUrl":"https://doi.org/10.1002/ccr3.9654","url":null,"abstract":"<p>Maxillary sinusitis is a recognized complication following dental procedures, but its occurrence after orthognathic surgery, such as Le Fort osteotomies, remains less documented. This case report presents a 58-year-old female who developed unilateral maxillary sinusitis 23 years post-orthognathic surgery. The patient was asymptomatic, aside from occasional cacosmia, and was incidentally found to have sinus opacification on a computed tomography (CT) scan performed for implant-prosthetic rehabilitation. Nasal endoscopy revealed purulence and mucosal edema, prompting endoscopic sinus surgery (ESS). Intraoperatively, purulent material and fungal debris were removed from the maxillary sinus, confirming bacterial sinusitis with a concurrent fungal ball. <i>S. salivarius</i> and <i>Klebsiella</i> species were identified from the cultures. The patient's condition improved following the removal of both the sinus contents and the retained titanium plates and screws. This case underscores the potential for maxillary sinusitis to develop long after orthognathic surgery, particularly in the presence of retained dental hardware. It highlights the importance of thorough imaging and endoscopic evaluation in patients with a history of dental or facial surgeries presenting with sinonasal symptoms. Additionally, it raises questions about the role of retained hardware in the persistence or recurrence of infection and the possible association with fungal ball formation. The need for further research to establish guidelines for the management of sinusitis in such contexts, particularly regarding the removal of facial hardware, is emphasized.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"12 12","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.9654","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142754167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Dental Implications of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: A Comprehensive Case Report and Literature Review

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Clinical Case Reports Pub Date : 2024-11-29 DOI: 10.1002/ccr3.9670

Abdullah Faraj Alshammari, Ebtsam Abdullah Aledaili, Jawaher Saad Alrimali, Bander Mushawwah Alhamazani, Khlood Abdulkader Alkurdi

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Co-Trimoxazole-Induced Toxic Epidermal Necrolysis: A Case Report From Nepal

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Clinical Case Reports Pub Date : 2024-11-29 DOI: 10.1002/ccr3.9679

Sandesh Gaire, Suchit Thapa Chhetri

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Steroid-Induced Psychosis in a Child With Nephrotic Syndrome Secondary to Focal Segmental Glomerulosclerosis: A Case Report

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Clinical Case Reports Pub Date : 2024-11-29 DOI: 10.1002/ccr3.9642

Sushan Pokharel, Amrit Bhusal, Himal Bikram Bhattarai, Tek Nath Yogi, Prabha Bhandari, Deepti Pandit

{"title":"Steroid-Induced Psychosis in a Child With Nephrotic Syndrome Secondary to Focal Segmental Glomerulosclerosis: A Case Report","authors":"Sushan Pokharel, Amrit Bhusal, Himal Bikram Bhattarai, Tek Nath Yogi, Prabha Bhandari, Deepti Pandit","doi":"10.1002/ccr3.9642","DOIUrl":"https://doi.org/10.1002/ccr3.9642","url":null,"abstract":"<p>Corticosteroid-induced psychosis is rare and less reported in children compared to adults. However, psychosis is considered a severe adverse effect of corticosteroids in pediatric nephrotic syndrome. Steroid-induced psychosis is dose-dependent and should be treated by tapering the dose of steroids and usually initiating an atypical antipsychotic. A 13-year-old male child presented to the pediatrics outpatient department with complaints of anxiety, fearfulness, and seeing images of an old man crawling into his room and threatening to strangle him with a red rope, which led to decreased sleep. He was initiated on oral prednisolone 3 weeks ago after being diagnosed with nephrotic syndrome. A diagnosis of steroid-induced psychosis was made, and he was tapered on steroids over 6 weeks. He was then initiated on tacrolimus, quetiapine, and lorazepam and was discharged after a week. At follow-up in 4 weeks, his psychosis had resolved, and nephrotic syndrome was found to improve. Children on steroids should be closely monitored for psychotic symptoms over a prolonged duration. Although tapering the dose of steroids is the gold standard treatment of steroid-induced psychosis, cases like nephrotic syndrome demand the continuous use of an immunosuppressant. In such cases, tacrolimus has been found to be an effective alternative, although continuous monitoring for nephrotoxicity is necessary. Similarly, atypical antipsychotics (like quetiapine) are preferred for psychosis because of their lesser risk for extrapyramidal side effects compared to typicals. Parental counseling and informed consent are utmost for children on steroids or tacrolimus.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"12 12","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.9642","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142749307","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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Streptokinase-Induced Serum Sickness: A Case Report

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Clinical Case Reports Pub Date : 2024-11-29 DOI: 10.1002/ccr3.9650

Bibek Shrestha, Rebicca Pradhan, Pradeep Shrestha, Sudip Bastakoti

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A Comprehensive Case Report on Familial Multiple Lipomatosis

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Clinical Case Reports Pub Date : 2024-11-29 DOI: 10.1002/ccr3.9664

Fatima Ali Raza, Syed Abdullah Monawwer, Muhammad Husnain, Darja Golubeva, Laveeza Fatima, Md Ariful Haque

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