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Digital chairside workflow for CAD/CAM fibre post-and-core and provisional crown fabrication in a maxillary lateral incisor after root canal treatment. 根管治疗后上颌侧切牙CAD/CAM纤维桩核和临时冠制作的数字椅边工作流程。
IF 0.6
BMJ Case Reports Pub Date : 2025-10-05 DOI: 10.1136/bcr-2024-263865
Eduardo Mukai, Ha Lim Kim, Isabella Neme Ribeiro Dos Reis, Emily Viviane Freitas da Silva
{"title":"Digital chairside workflow for CAD/CAM fibre post-and-core and provisional crown fabrication in a maxillary lateral incisor after root canal treatment.","authors":"Eduardo Mukai, Ha Lim Kim, Isabella Neme Ribeiro Dos Reis, Emily Viviane Freitas da Silva","doi":"10.1136/bcr-2024-263865","DOIUrl":"https://doi.org/10.1136/bcr-2024-263865","url":null,"abstract":"<p><p>This report describes a fully digital chairside workflow for the metal-free reconstruction of a severely damaged maxillary lateral incisor within a single treatment session. After a root canal treatment, the post space was prepared and digitised. Subsequently, a computer-aided design/computer-aided manufacturing (CAD/CAM) chairside workflow was implemented to fabricate an individualised post-and-core using glass fibre-reinforced epoxy resin, together with a long-term provisional single crown (SC) made of polymethylmethacrylate. After adhesive luting of the post-and-core, the provisional SC was secured using an eugenol-free temporary cement.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145237980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Transcatheter aortic valve replacement for pure native aortic regurgitation. 经导管主动脉瓣置换术治疗单纯先天性主动脉反流。
IF 0.6
BMJ Case Reports Pub Date : 2025-10-05 DOI: 10.1136/bcr-2025-265514
Christina Gkotsoulia, Sarah Mauler-Wittwer, Dionysios Adamopoulos, Georgios Giannakopoulos, Hajo Müller, Stéphane Noble
{"title":"Transcatheter aortic valve replacement for pure native aortic regurgitation.","authors":"Christina Gkotsoulia, Sarah Mauler-Wittwer, Dionysios Adamopoulos, Georgios Giannakopoulos, Hajo Müller, Stéphane Noble","doi":"10.1136/bcr-2025-265514","DOIUrl":"https://doi.org/10.1136/bcr-2025-265514","url":null,"abstract":"<p><p>We report the case of a female patient in her 60s with advanced ovarian cancer and Trousseau's syndrome, who presented with a stroke. An unusual biphasic femoral flow led to transthoracic echocardiography that revealed a severe aortic regurgitation (AR) secondary to a prolapsed right coronary aortic valve leaflet. An initial echocardiography missed the diagnosis due to tachycardia. Transcatheter aortic valve replacement (TAVR) resulted in symptom improvement. She was readmitted 2 years later with prosthetic valve thrombosis, ultimately succumbing to oncological complications. This case highlights challenges in diagnosing AR and the potential role of TAVR in patients with native pure AR (NPAR). While TAVR for NPAR poses technical challenges, newer generation transcatheter heart valves (THVs) offer promising outcomes. The Acurate NEO 2 valve was successfully used in this case. TAVR with off-label THVs can be considered for selected NPAR patients, and we can expect increased utilisation of on-label devices when availability issues are solved.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145238118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rare clinical presentation of a child with four maxillary permanent incisors. 儿童上颌四恒切牙的罕见临床表现。
IF 0.6
BMJ Case Reports Pub Date : 2025-10-05 DOI: 10.1136/bcr-2025-265163
Harikishan Kanani, Rutuja Patil, Monika Khubchandani, Ramakrishna Yeluri, Nilima Thosar, Aakanxa Thakkar, Ruchika Pandey, Devyani Taori
{"title":"Rare clinical presentation of a child with four maxillary permanent incisors.","authors":"Harikishan Kanani, Rutuja Patil, Monika Khubchandani, Ramakrishna Yeluri, Nilima Thosar, Aakanxa Thakkar, Ruchika Pandey, Devyani Taori","doi":"10.1136/bcr-2025-265163","DOIUrl":"https://doi.org/10.1136/bcr-2025-265163","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145238074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
MOTA syndrome diagnosis following unexpected neonatal death. 新生儿意外死亡后MOTA综合征诊断。
IF 0.6
BMJ Case Reports Pub Date : 2025-10-05 DOI: 10.1136/bcr-2025-268083
Mohammed Saad Nabhan, Mohamed A Maher, Sathya Parthasarathy
{"title":"MOTA syndrome diagnosis following unexpected neonatal death.","authors":"Mohammed Saad Nabhan, Mohamed A Maher, Sathya Parthasarathy","doi":"10.1136/bcr-2025-268083","DOIUrl":"https://doi.org/10.1136/bcr-2025-268083","url":null,"abstract":"<p><p>The Manitoba Oculo-Tricho-Anal (MOTA) syndrome was first described in 1992. MOTA syndrome is a rare syndrome. MOTA syndrome has a clear genetic autosomal recessive inheritance pattern. The MOTA syndrome is related to FRAS1 (Fraser extracellular matrix complex subunit 1) related extracellular matrix 1 (FREM1) gene mutation, which can also cause genitourinary defects (including renal agenesis), nasal abnormalities and anorectal abnormalities. In our case, a pregnant woman whose fetus had been diagnosed during a routine mid-trimester ultrasound scan with unilateral renal agenesis and no other structural abnormalities delivered at 39 weeks by elective caesarean section. Unfortunately, the baby died shortly after delivery due to failed intubation. On post-mortem genetic analysis using whole genome sequencing, MOTA syndrome was diagnosed. Previous reports suggested that FREM1 mutations may contribute to upper airway malformations. This case highlights the need for genetic analysis to diagnose MOTA syndrome.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145238007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Management of Refractory Glaucoma in Chandler's variant of Iridocorneal Endothelial Syndrome. 钱德勒变型虹膜角膜内皮综合征难治性青光眼的治疗。
IF 0.6
BMJ Case Reports Pub Date : 2025-10-02 DOI: 10.1136/bcr-2025-266789
Aahan Shah, Mary Stephen, Archit Gupta, Subashini Kaliaperumal
{"title":"Management of Refractory Glaucoma in Chandler's variant of Iridocorneal Endothelial Syndrome.","authors":"Aahan Shah, Mary Stephen, Archit Gupta, Subashini Kaliaperumal","doi":"10.1136/bcr-2025-266789","DOIUrl":"https://doi.org/10.1136/bcr-2025-266789","url":null,"abstract":"<p><p>A woman in her late 30s presented with 20 days of severe diminution of vision in her right eye, accompanied by discomfort and headache. On presentation, intraocular pressure (IOP) was 50 mm Hg, and after 1 week of resumed therapy, it remained uncontrolled at 30 mm Hg.Gonioscopy revealed broad-based peripheral anterior synechiae and focal goniosynechiae. Slit lamp examination showed fine pigment on the posterior corneal surface without iris atrophy. Specular microscopy demonstrated markedly reduced traceable cell counts due to light scatter from a subclinical endothelial membrane and pigment, yet showed polymegathism and pleomorphism; pachymetry and slit lamp findings excluded corneal oedema. HSV (Herpes Simplex Virus) PCR was not performed due to cost constraints; corneal sensations were intact. A diagnosis of Chandler's variant ICE (IridoCornealEndothelial) syndrome with refractory glaucoma was made. The patient underwent trabeculectomy with mitomycin C, achieving IOP of 12 mm Hg. Learning points include the recognition of specular microscopy artefacts, reliance on clinical correlation and management challenges in resource-limited settings.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145224964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CACNA1A-associated epileptic encephalopathy triggered by minor trauma: importance of early diagnosis and appropriate treatment. 轻微外伤引发的cacna1a相关性癫痫性脑病：早期诊断和适当治疗的重要性
IF 0.6
BMJ Case Reports Pub Date : 2025-09-30 DOI: 10.1136/bcr-2025-267245
Arvinder Wander, Roshwanth A, Sameer Peer, Cheekatla Bhargavi Anuhya
{"title":"CACNA1A-associated epileptic encephalopathy triggered by minor trauma: importance of early diagnosis and appropriate treatment.","authors":"Arvinder Wander, Roshwanth A, Sameer Peer, Cheekatla Bhargavi Anuhya","doi":"10.1136/bcr-2025-267245","DOIUrl":"https://doi.org/10.1136/bcr-2025-267245","url":null,"abstract":"<p><p>This case describes a female toddler who presented with status epilepticus, altered sensorium and hemiparesis after a trivial trauma, initially raising suspicion for acute ischaemic stroke. However, genetic analysis identified a novel heterozygous CACNA1A mutation, confirming developmental and epileptic encephalopathy. The child was subsequently started on targeted therapy with flunarizine, acetazolamide and antiepileptic medications, which led to effective seizure control and neurological improvement. This case emphasises the need to consider CACNA1A-associated encephalopathy in children presenting with post-traumatic seizures and encephalopathy, as early diagnosis facilitates individualised treatment and may alter disease trajectory.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145205413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Headache and eye pain in a toddler: An unusual presentation of neuroblastoma. 幼儿头痛和眼痛：神经母细胞瘤的一种不寻常的表现。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-30 DOI: 10.1136/bcr-2025-267074
Ella Catherine Perrin, Sun H Choo
{"title":"Headache and eye pain in a toddler: An unusual presentation of neuroblastoma.","authors":"Ella Catherine Perrin, Sun H Choo","doi":"10.1136/bcr-2025-267074","DOIUrl":"https://doi.org/10.1136/bcr-2025-267074","url":null,"abstract":"<p><p>A boy in early childhood presented to the emergency department due to headache and eye pain. Blood pressure was not recorded with intake of vital signs. A CT head was obtained, which was negative. On return from CT, he was found to be in hypertensive emergency, with blood pressures of 190s/140s in all four extremities. A renal bladder ultrasound with Doppler showed a left retroperitoneal mass, and abdominal CT with contrast confirmed a mass consistent with a neuroblastoma. He was admitted to the PICU for blood pressure stabilisation and subsequently transferred to the oncology service where he was definitively diagnosed with neuroblastoma and started on chemotherapy. This case is an unusual presentation of a neuroblastoma as a hypertensive emergency. It highlights the importance of obtaining triage blood pressure for acute care paediatric patients and of creating a follow-up plan with families for abnormal readings and not prematurely attributing them to patient cooperation.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145205618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Peri-operative management considerations for localised upper tract urothelial carcinoma in the setting of Lynch syndrome. Lynch综合征背景下局限性上尿路上皮癌的围手术期处理。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-30 DOI: 10.1136/bcr-2025-265380
Lucia Notardonato, Ahsan Wahab, Natalie Reizine, Karine Tawagi
{"title":"Peri-operative management considerations for localised upper tract urothelial carcinoma in the setting of Lynch syndrome.","authors":"Lucia Notardonato, Ahsan Wahab, Natalie Reizine, Karine Tawagi","doi":"10.1136/bcr-2025-265380","DOIUrl":"https://doi.org/10.1136/bcr-2025-265380","url":null,"abstract":"<p><p>Lynch syndrome (LS)-associated upper tract urothelial cancer (UTUC) is an overall rare malignancy comprising only 5%-10% of all urothelial carcinomas. Given its rarity, specific management guidelines for LS-associated UTUC do not exist. The optimal peri-operative management of localised LS-UTUC remains unknown, and with future approvals, immunotherapy may allow for organ preservation. This report describes a case of localised LS-UTUC with prior history of stage I colon cancer. An initial attempt to obtain an insurance approval for pembrolizumab given LS and context of deficient mismatch repair was unsuccessful. She subsequently received neoadjuvant gemcitabine and split-dose cisplatin, leading to a complete pathological response, ypT0N0.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145205597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comprehensive overview of progressive familial intrahepatic cholestasis type 3 and the importance of pruritus as a diagnostic clue. 进行性家族性肝内胆汁淤积3型的综合综述及瘙痒作为诊断线索的重要性。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-30 DOI: 10.1136/bcr-2025-265416
Catarina Nunes, Luísa Ribeiro, Maria Torre, Cristina Gonçalves
{"title":"Comprehensive overview of progressive familial intrahepatic cholestasis type 3 and the importance of pruritus as a diagnostic clue.","authors":"Catarina Nunes, Luísa Ribeiro, Maria Torre, Cristina Gonçalves","doi":"10.1136/bcr-2025-265416","DOIUrl":"https://doi.org/10.1136/bcr-2025-265416","url":null,"abstract":"<p><p>This case report illustrates a rare case of progressive familial intrahepatic cholestasis type 3. Pruritus was the predominant symptom that led to the diagnosis of this condition in an otherwise healthy adolescent. The onset of symptoms can happen at any age, and the diagnosis may be delayed due to a lack of severe symptoms. Genetic testing confirms the diagnosis. Therapy with ursodeoxycholic acid is recommended, and other anti-pruritic medications can be adjuvant. Disease progression should be monitored.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145205604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Spontaneous tricuspid valve chordal rupture in infundibular pulmonic stenosis with bicuspid pulmonic valve. 伴有二尖瓣肺动脉瓣的小叶型肺动脉狭窄患者自发性三尖瓣索断裂。
IF 0.6
BMJ Case Reports Pub Date : 2025-09-30 DOI: 10.1136/bcr-2025-267569
Rupendra Nath Saha, Bhanu Duggal, Avinash Prakash, Raghuraj Chawla
{"title":"Spontaneous tricuspid valve chordal rupture in infundibular pulmonic stenosis with bicuspid pulmonic valve.","authors":"Rupendra Nath Saha, Bhanu Duggal, Avinash Prakash, Raghuraj Chawla","doi":"10.1136/bcr-2025-267569","DOIUrl":"https://doi.org/10.1136/bcr-2025-267569","url":null,"abstract":"<p><p>Both infundibular pulmonic stenosis with a bicuspid pulmonic valve and a spontaneously ruptured tricuspid valve are infrequent cardiac anomalies to come across in day-to-day cardiology practice. We are writing about a middle-aged woman who presented with a spontaneous rupture of the tricuspid valve chordae, most probably secondary to right ventricular pressure overload from an infundibular pulmonic stenosis with a bicuspid pulmonic valve. A successful surgical repair relieved her of her symptoms.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 9","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145205562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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