BMJ Case Reports最新文献

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AAC selection through dynamic assessment for a child with intellectual disability. 通过动态评估为智障儿童选择辅助器具。
IF 0.6
BMJ Case Reports Pub Date : 2025-02-11 DOI: 10.1136/bcr-2024-260363
Krupa Venkatraman, Darshanaa Harikrishnan, Sunandha Shree Sriramachandran
{"title":"AAC selection through dynamic assessment for a child with intellectual disability.","authors":"Krupa Venkatraman, Darshanaa Harikrishnan, Sunandha Shree Sriramachandran","doi":"10.1136/bcr-2024-260363","DOIUrl":"https://doi.org/10.1136/bcr-2024-260363","url":null,"abstract":"<p><p>This study presents a contemporary assessment method for selecting the appropriate augmentative and alternative communication (AAC) system for children with intellectual disabilities (IDs). This involves using dynamic assessment (DA) to identify the optimal AAC system that can improve a child's communication abilities. DA uncovers a child's capacity to acquire new skills with specific modifications and prompts. This approach was used to select the AAC systems appropriate for a boy in his middle childhood with communication impairment secondary to ID. Three AAC scenarios were gradually introduced to the child during the assessment, and the task with which it was presented (high-tech, low-tech conventional pictures and low-tech communication book with photographs) was gradually modified. The assessment outcome revealed two essential modifications to the AAC system that facilitated the child's functional communication. Despite the increasing popularity of advanced AAC systems, practical challenges such as accessibility, stimulus relevance and usability persist. Hence, it is crucial to consider a method such as DA to select the appropriate AAC system, considering the communication needs, language level and cognitive ability of children with ID.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143397887","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
Effective conservative management of delayed pancreatic injury.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-10 DOI: 10.1136/bcr-2024-262944
Amir Obeid, Dan Hershko, Abd El Karim Darawshy, Bassam Abu Wasel
{"title":"Effective conservative management of delayed pancreatic injury.","authors":"Amir Obeid, Dan Hershko, Abd El Karim Darawshy, Bassam Abu Wasel","doi":"10.1136/bcr-2024-262944","DOIUrl":"https://doi.org/10.1136/bcr-2024-262944","url":null,"abstract":"<p><p>Pancreatic injuries due to blunt abdominal trauma are rare and present significant diagnostic and management challenges. This case report discusses the conservative management of a young patient with a traumatic pancreatic body transection following a motor vehicle accident, emphasizing the importance of a multidisciplinary approach and demonstrating the potential for successful non-operative management in select cases.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143389911","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
Systemic lupus erythematosus unmasked: intestinal pseudo-obstruction as the first presentation.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-10 DOI: 10.1136/bcr-2024-263491
Dandi Kranthi, Debabrata Banerjee, Amol Dahale, Abhijeet Bhausaheb Karad
{"title":"Systemic lupus erythematosus unmasked: intestinal pseudo-obstruction as the first presentation.","authors":"Dandi Kranthi, Debabrata Banerjee, Amol Dahale, Abhijeet Bhausaheb Karad","doi":"10.1136/bcr-2024-263491","DOIUrl":"https://doi.org/10.1136/bcr-2024-263491","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) is an autoimmune inflammatory condition with a varied clinical presentation. It can involve multiple organ systems and has the potential to impact any part of the gastrointestinal tract. Intestinal pseudo-obstruction (IPO) is a rare yet severe gastrointestinal manifestation of SLE. Two-thirds of SLE patients with IPO present with concomitant hydroureteronephrosis. This report details the case of a young woman who presented with IPO as the initial manifestation of SLE. The presence of proteinuria with bilateral hydroureteronephrosis in this patient with IPO prompted a trail of investigations that led to the diagnosis of SLE. This diagnosis mitigated the need for surgery, as the patient responded to immunosuppressive therapy.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143389914","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
Ureterohydronephrosis due to a menstrual cup.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-10 DOI: 10.1136/bcr-2024-262035
Clara Maarup Prip, Lotte Kaasgaard Jakobsen
{"title":"Ureterohydronephrosis due to a menstrual cup.","authors":"Clara Maarup Prip, Lotte Kaasgaard Jakobsen","doi":"10.1136/bcr-2024-262035","DOIUrl":"10.1136/bcr-2024-262035","url":null,"abstract":"<p><p>Menstrual cups are increasingly used to control menstrual bleeding. Complication rates are sparsely described, but some serious complications have been reported. We present a rare case of ureterohydronephrosis due to a menstrual cup. A woman in her 30s presented with intermittent flank pain and occasional haematuria. CT urography showed a menstrual cup placed in the right side of the vagina in close proximity to the ureteral ostium together with ureterohydronephrosis. After removal of the menstrual cup, there was a complete regression of symptoms and ultrasonic regression of the ureterohydronephrosis. More awareness should be made, both among menstrual cup users and clinicians, about presenting symptoms and how to choose the correct shape, size, and insertion method to avoid complications.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11831059/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143389917","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
Gyrate atrophy with vitreous haemorrhage: a rare combination.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-08 DOI: 10.1136/bcr-2024-262960
Divyansh Rughwani, Sohini Mandal, Madhushmita Mahapatra, Srikanta Kumar Kumar Padhy
{"title":"Gyrate atrophy with vitreous haemorrhage: a rare combination.","authors":"Divyansh Rughwani, Sohini Mandal, Madhushmita Mahapatra, Srikanta Kumar Kumar Padhy","doi":"10.1136/bcr-2024-262960","DOIUrl":"https://doi.org/10.1136/bcr-2024-262960","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143373765","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
Uterine rupture following motor vehicle collision: possible seatbelt induced lesions.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-08 DOI: 10.1136/bcr-2024-259988
Sara Sousa, Nuno Simões Costa, Alexandre Valentim Lourenço
{"title":"Uterine rupture following motor vehicle collision: possible seatbelt induced lesions.","authors":"Sara Sousa, Nuno Simões Costa, Alexandre Valentim Lourenço","doi":"10.1136/bcr-2024-259988","DOIUrl":"https://doi.org/10.1136/bcr-2024-259988","url":null,"abstract":"<p><p>Road traffic accidents rank among the leading non-obstetric causes of maternal and fetal death. We present a case of a motor vehicle collision involving a pregnant woman at term. In the initial evaluation, the patient was haemodynamically unstable and had an extensive abdominal haematoma. Abdominal ultrasound revealed fetal death and a significant quantity of intra-abdominal free fluid. An emergent exploratory laparotomy was performed, confirming a transverse uterine rupture, significant haemoperitoneum, and a dead fetus in the peritoneal cavity. Additional injuries included right infundibulopelvic ligament haematoma, rectus abdominis muscle section, dorsal vertebral body fracture and rib and ileopubic branch fractures. Uterine repair and right adnexectomy were performed. Despite fetal death, the patient survived, and the uterus and left adnexa were preserved.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143373773","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
Giant cell carcinoma resembling the lung in the ovary: challenges and treatment approaches.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-08 DOI: 10.1136/bcr-2024-264290
Divya Panyam Vuppu, Neethu Puthalon Kunnath, Indu R Nair, Jameera Nasser
{"title":"Giant cell carcinoma resembling the lung in the ovary: challenges and treatment approaches.","authors":"Divya Panyam Vuppu, Neethu Puthalon Kunnath, Indu R Nair, Jameera Nasser","doi":"10.1136/bcr-2024-264290","DOIUrl":"https://doi.org/10.1136/bcr-2024-264290","url":null,"abstract":"<p><p>Giant cell carcinoma (GCC) resembling the lung in the ovary is a rare and aggressive tumour with no established standard treatment options. In this case, a postmenopausal woman in her 50s with hypothyroidism underwent surgery for a left ovarian mass. Due to dense adhesions to the sigmoid colon, the procedure was abandoned, and she was referred to our centre. Imaging showed a necrotic pelvic mass involving adjacent organs, omental nodules and para-aortic lymphadenopathy. Her initial biopsy showed an undifferentiated carcinoma with giant cells, resembling GCC of the lung, which was confirmed by immunohistochemistry. Three cycles of carboplatin and paclitaxel reduced the tumour, enabling successful interval debulking surgery. The patient completed three more cycles and has been recurrence-free for 18 months. In this case, the use of neoadjuvant chemotherapy likely contributed to better disease control, facilitating a complete resection during the interval surgery.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143373762","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
Diagnostic work-up of an incidental ultra-rare tumour, epithelioid haemangioendothelioma, in a Danish diagnostic centre.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-08 DOI: 10.1136/bcr-2024-262235
Line Brink Lolk-Ottosen, Rasmus Birkholm Grønnemose, Peter Thye-Rønn
{"title":"Diagnostic work-up of an incidental ultra-rare tumour, epithelioid haemangioendothelioma, in a Danish diagnostic centre.","authors":"Line Brink Lolk-Ottosen, Rasmus Birkholm Grønnemose, Peter Thye-Rønn","doi":"10.1136/bcr-2024-262235","DOIUrl":"https://doi.org/10.1136/bcr-2024-262235","url":null,"abstract":"<p><p>In this case report we present a woman in her late 40s with dual clinical presentation. First, the patient presented to general practice with muscular symptoms over months, including pain and a palpable mass in her right leg. Then acute cerebral symptoms appeared that required emergency hospitalisation. MRI scan of the head, chest X-ray, upper-body <sup>18</sup>F-FDG-PET/CT and CT scan were indicative of both a benign meningioma and malignant lung metastases. Subsequent diagnostic work-up at our diagnostic centre led to the final diagnosis; epithelioid haemangioendothelioma, with the primary site in the right leg and lung metastases, an ultra-rare type of cancer.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143373760","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
Idiopathic retrograde duodenojejunal intussusception in a patient with multiple congenital anomalies.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-08 DOI: 10.1136/bcr-2024-260339
Liana Mae Jajurie Lobo, Marc Paul Jose Lopez, Jan Miguel Deogracias, Michael Geoffrey Lee Lim
{"title":"Idiopathic retrograde duodenojejunal intussusception in a patient with multiple congenital anomalies.","authors":"Liana Mae Jajurie Lobo, Marc Paul Jose Lopez, Jan Miguel Deogracias, Michael Geoffrey Lee Lim","doi":"10.1136/bcr-2024-260339","DOIUrl":"https://doi.org/10.1136/bcr-2024-260339","url":null,"abstract":"<p><p>This is a case of a woman in her late 20s with multiple musculoskeletal congenital anomalies presenting with a 1 week history of right lower quadrant abdominal pain. She was received dehydrated at the emergency department with a soft, non-tender abdomen. After resuscitation, CT imaging showed evidence of retrograde duodenojejunal intussusception. The patient eventually required a jejunal resection as intervention.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143373766","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
Infantile hypophosphatasia: a rare aetiology of recurrent pneumonia.
IF 0.6
BMJ Case Reports Pub Date : 2025-02-08 DOI: 10.1136/bcr-2024-261831
Nikita Diwan, Areesha Alam, Nishant Verma
{"title":"Infantile hypophosphatasia: a rare aetiology of recurrent pneumonia.","authors":"Nikita Diwan, Areesha Alam, Nishant Verma","doi":"10.1136/bcr-2024-261831","DOIUrl":"https://doi.org/10.1136/bcr-2024-261831","url":null,"abstract":"<p><p>We report a rare case of infantile hypophosphatasia associated with recurrent pneumonia, a condition with few similar cases documented globally. Clinical exome sequencing identified a heterozygous mutation in the alkaline phosphatase (<i>ALPL</i>) gene (c.69_74del; p.Glu23_Lys24del), the first such case reported in India and classified as 'likely pathogenic'. Its causality remains unproven due to limited evidence, including the absence of in vitro studies and pedigree analysis. Phenotypic variability may be influenced by factors such as incomplete penetrance, variable expressivity and environmental or epigenetic modifiers. This case highlights a rare but important cause of recurrent pneumonia in infants. Despite treatment, the child succumbed to severe pneumonia within 2 months. Clinicians should consider infantile hypophosphatasia in cases of recurrent pneumonia, motor delay, seizures, severe malnutrition and persistently low serum alkaline phosphatase. Further genetic and functional studies are needed to validate genotype-phenotype correlations and improve disease management.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143373767","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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