Annals of Medicine and Surgery最新文献

{"title":"Role of gut microbiota in the pathogenesis of metabolic syndrome: an updated comprehensive review from mechanisms to clinical implications.","authors":"Ajeet Singh, Amogh Verma, Saad Ashraf, Danish Sarfraz Sheikh, Hamza Irfan, Rumaisa Riaz, Fnu Venjhraj, Shehdev Meghwar, Ravesh Kumar, Muhammad Daoud Tariq, Hafiz Muhammad Hamza, Areeba Ahsan, Prakasini Satapathy","doi":"10.1097/MS9.0000000000003656","DOIUrl":"10.1097/MS9.0000000000003656","url":null,"abstract":"<p><p>Modern studies have linked gut microbiota to metabolic syndrome - a condition linked to obesity, characterized by insulin resistance, dyslipidemia, hyperglycemia, and hyperlipidemia. The gut microbiota, influenced by diet, plays a pivotal role in metabolic syndrome, affecting energy absorption, metabolism, and immune responses. Dysbiosis disrupts energy metabolism and immune responses contributing to metabolic endotoxemia, leading to insulin resistance and systemic inflammation. Key metabolites like short-chain fatty acids and bile acids, modulate insulin sensitivity and metabolic pathways. Therapeutic strategies involving probiotics and prebiotics show potential in managing diabetes and cardiovascular diseases by targeting lipid metabolism, inflammation, and atherosclerosis. However, challenges in therapy standardization and regulatory approval remain. Continued research on gut microbiota's role in metabolic syndrome could lead to innovative, personalized treatment and prevention strategies based on individual metabolic profiles. The review aims to elucidate the underlying mechanisms that influence metabolic health and cardiovascular function. It seeks to synthesize current research findings, highlighting the role of microbial composition, diversity, and metabolic byproducts in the modulation of host metabolism and cardiovascular outcomes.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 9","pages":"5851-5861"},"PeriodicalIF":1.6,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401419/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144991402","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}

{"title":"Atzumi for migraine: a new era of needle-free dihydroergotamine delivery.","authors":"Areeba Aamir Ali Basaria, Santosh Sah, Hansa Ratnani, Ismat Fatima, Hermann Yokolo","doi":"10.1097/MS9.0000000000003652","DOIUrl":"10.1097/MS9.0000000000003652","url":null,"abstract":"<p><p>Migraine continues to affect a large portion of the population and remains difficult to treat effectively in many cases, especially when gastrointestinal symptoms interfere with medication absorption. Atzumi, a dihydroergotamine mesylate nasal powder, recently received U.S. Food and Drug Administration approval and represents a promising alternative. It uses a unique powder-based delivery system aimed at improving absorption and consistency of effect. Data from both early pharmacokinetic testing and a long-term safety study suggest that it works quickly and is generally well tolerated. Patients experienced meaningful relief, often without needing backup medications, and side effects were reported infrequently.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 9","pages":"6228-6230"},"PeriodicalIF":1.6,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401432/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144991226","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}

{"title":"Undifferentiated inflammatory arthritis in a tuberculosis-positive patient: a diagnostic and therapeutic challenge - a case report.","authors":"Pukar Gupta, Prakriti Katwal, Pradeep Adhikari, Sitaram Katwal, Roshni Thapa, Nishchal Regmi, Ram Narayan Kurmi, Sarina Gurung","doi":"10.1097/MS9.0000000000003647","DOIUrl":"10.1097/MS9.0000000000003647","url":null,"abstract":"<p><strong>Background: </strong>In clinical practice, some cases gently challenge our assumptions, reminding us that not everything is what it seems. This is the story of a young woman receiving treatment for tuberculosis who began showing signs that pointed beyond infection alone. It underlines how autoimmunity can surface in the shadows of another illness, demanding careful attention and an open mind.</p><p><strong>Case presentation: </strong>A 27-year-old woman receiving treatment for pulmonary tuberculosis presented to us with worsening joint pain, swelling, facial rash, and muscle weakness. She had trouble with basic movements like climbing stairs and noticed rashes over her face and knuckles. On examination, she had a malar rash and Gottron's papules, with noticeably weakness in her upper and lower limbs. Her lab results showed elevated ESR and a positive PM-Scl antibody; meanwhile, other autoimmune markers were negative. Her imaging revealed tenosynovitis and microvascular changes on capillaroscopy. She was then diagnosed with undifferentiated inflammatory arthritis, within the myositis spectrum <b>-</b> and was started on steroids and DMARDs while continuing her TB therapy.</p><p><strong>Discussion: </strong>This case highlights the challenges of diagnosing autoimmune disease in a patient already being treated for TB. In endemic areas, it is easy to blame new symptoms on infection alone, but her evolving clinical picture urged us to dig deeper. It reinforces the need for careful clinical judgment and teamwork when managing overlapping infectious and autoimmune conditions.</p><p><strong>Conclusion: </strong>For patients like her, timely recognition of autoimmune features <b>-</b> especially in the context of chronic infections <b>-</b> can change outcomes. Her journey highlights not only the complexity of medicine but also the value of listening closely, thinking broadly, and responding with a multidisciplinary approach.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 9","pages":"6135-6138"},"PeriodicalIF":1.6,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144991306","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}

{"title":"Bibliometric and visual analysis of overlooked fatigue in kidney transplantation: a narrative review.","authors":"Xinyi Zhu, Ruiting Zhu, Jing He, Hengchang Zhang, Haoming Qi, Buhao Chen, Ming Zhang, Runzong Gou, Yamin Zhu, Junya Mu, Shaohui Ma","doi":"10.1097/MS9.0000000000003657","DOIUrl":"10.1097/MS9.0000000000003657","url":null,"abstract":"<p><strong>Background: </strong>Fatigue significantly influences and predicts quality of life, social function, and graft survival after kidney transplantation. Accurate assessment and management of fatigue in kidney transplant recipients are vital, especially when planning treatment strategies and potential rehabilitation programs. However, there is no bibliometric report in this area.</p><p><strong>Methods: </strong>The Web of Science Core Collection for all original articles and reviews published in English on this topic was searched up from 1 January 1978 to 31 December 2023. A total of 719 articles meeting inclusion criteria were analyzed using bibliometric approaches.</p><p><strong>Results: </strong>The United States is the most influential country in this research area, with the Pennsylvania Commonwealth System of Higher Education being the most prolific institution. The Transplantation and American Journal of Transplantation emerged as the foremost in publishing articles in this field. The highest-frequency keywords were quality of life, kidney transplantation, chronic kidney disease, dialysis, and fatigue. Besides, important research topics included kidney transplantation, quality of life, dialysis, fatigue, and depression.</p><p><strong>Conclusions: </strong>Kidney transplant-related fatigue has been gradually concerned by scholars, with research focusing on its impact on quality of life, chronic kidney disease, dialysis, and depression. However, the current body of research remains largely descriptive, with limited studies on effective prevention and intervention strategies. Future research should prioritize the development of targeted interventions to address fatigue in kidney transplant recipients, incorporating multidisciplinary approaches involving clinical medicine, psychology, and rehabilitation. Promising strategies may include psychological therapies such as cognitive behavioral therapies, personalized exercise programs, and optimized medication management.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 9","pages":"5862-5869"},"PeriodicalIF":1.6,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401336/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144991224","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}

{"title":"Spontaneous recanalization after acute common carotid artery occlusion: a case report.","authors":"Xuming Huang, Guiyu Zhao, Ruoyi Zheng, Yanqin Fan, Liming Cao","doi":"10.1097/MS9.0000000000003636","DOIUrl":"10.1097/MS9.0000000000003636","url":null,"abstract":"<p><strong>Introduction and importance: </strong>Albeit rare, spontaneous recanalization after common carotid artery (CCA) occlusion is an important medical phenomenon, as it can lead to increased blood flow to the brain tissue, thereby improving cerebral perfusion. However, it also increases the risk of reperfusion injury and distal cerebral embolism.</p><p><strong>Case presentation: </strong>The patient was a 54-year-old man who presented with sudden right-sided limb weakness and speech impairment. Emergency computed tomography angiography (CTA) showed complete occlusion of the left CCA and internal carotid artery. CTA on day 1 indicated moderate-to-severe stenosis of the left CCA. Extensive low-density areas and hemorrhagic transformations were observed in the territory supplied by the left middle cerebral artery. Follow-up cranial CT on day 15 showed obvious hemorrhagic transformation following infarction. High-resolution magnetic resonance imaging of the carotid arteries on day 25 revealed no significant stenosis. The patient was given medications to improve circulation and antiplatelet aggregation, as well as lipid-lowering therapy. Follow-up cranial CT on day 37 showed significant absorption of the cerebral hemorrhage.</p><p><strong>Clinical discussion: </strong>This case report presents a rare spontaneous recanalization of acute CCA occlusion without thrombolysis or thrombectomy. Neurological deficits resolved completely following the delayed recanalization, challenging conventional understanding of intervention timelines. The case highlights potential thrombolytic-independent recanalization mechanisms.</p><p><strong>Conclusion: </strong>These findings raise questions about the optimal management approach in select common carotid artery occlusion cases and emphasize the importance of individualized treatment decisions based on real-time vascular imaging assessment. Early and rapid spontaneous recanalization can lead to a reperfusion injury; close monitoring and follow-up assessments are essential.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 9","pages":"6139-6142"},"PeriodicalIF":1.6,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401226/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144991437","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}

{"title":"Electroacupuncture therapy improves cognitive dysfunction after ischemic stroke in Sprague-Dawley rats by adjusting the lncRNA-MEG3/miR-4640-3p axis.","authors":"Yun Zhang, Shiqing Gao, Ling Lin, Yongbing Zheng","doi":"10.1097/MS9.0000000000003628","DOIUrl":"10.1097/MS9.0000000000003628","url":null,"abstract":"<p><strong>Background: </strong>Ischemic stroke (IS) is a common disease that can cause cognitive dysfunction. Electroacupuncture (EA) is an effective way to alleviate cognitive dysfunction, but its molecular regulatory mechanism is still unclear. Long noncoding RNA-MEG3 (MEG3) is an important factor in the incidence and progression of IS. Herein, we explored the mechanism of EA in IS.</p><p><strong>Methods: </strong>A middle cerebral artery occlusion (MCAO) model was established in Sprague-Dawley rats to simulate IS <i>in vivo</i>, followed by electroacupuncture (EA) therapy. AAV-control and AAV-MEG3 were injected into the lateral ventricle of rats. All rats except for the sham group underwent MCAO. EA was performed at Shenting and Baihui points for 30 min, once a day for 14 days. The MEG3 and miR-4640-3p levels in brains were measured by qRT-PCR. Dual-luciferase reporter analysis validated the relationship between MEG3 and miR-4640-3p. The Morris water maze test and the neurological function test were carried out. The pathological morphology of the brain tissue was evaluated by H&E staining. Apoptotic cells in brains were examined utilizing TUNEL staining. The contents of Bax, Bcl-2, caspase-3, and CytC were assessed by western blot.</p><p><strong>Results: </strong>EA treatment reduced the content of MEG3 but enhanced miR-4640-3p levels in MCAO rats. MEG3 was a sponge for miR-4640-3p. EA treatment alleviated cognitive dysfunction in MCAO rats by inhibiting MEG3. EA treatment reduced MCAO-induced neural damage and apoptosis by inhibiting MEG3.</p><p><strong>Conclusion: </strong>EA improved cognitive dysfunction in IS rats by adjusting the MEG3/miR-4640-3p axis, suggesting that EA may be an effective potential therapeutic strategy for improvement of cognitive dysfunction in IS. This study provided a more reliable experimental basis for clinical EA treatment of IS patients.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 9","pages":"5512-5521"},"PeriodicalIF":1.6,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401418/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144991177","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}

{"title":"A case of situs inversus totalis with sigmoid volvulus: a case report of a rare coexistence.","authors":"Shrestha Anmol Singh, Puspharaj Shrestha, Pahari Nabin, Singh Chandresh Kumar, Chhetri Sahas, Pahari Mukesh","doi":"10.1097/MS9.0000000000003651","DOIUrl":"10.1097/MS9.0000000000003651","url":null,"abstract":"<p><strong>Introduction: </strong>Situs inversus totalis is an uncommon congenital disease characterized by the full transposition of thoracic and abdominal organs. Sigmoid volvulus, an unusual but potentially catastrophic cause of major bowel obstruction, is rarely associated with Situs inversus.</p><p><strong>Case presentation: </strong>A 76-year-old male presented with abdominal pain and obstipation for 5 days. Clinical examination and imaging revealed signs of bowel obstruction and dextrocardia. Computed tomography (CT) scan abdomen confirmed sigmoid volvulus and situs inversus totalis. Emergency laparotomy revealed a 360-degree twisted, dilated sigmoid colon. Manual detorsion and excision of fibrous bands were performed. The patient recovered uneventfully.</p><p><strong>Clinical discussion: </strong>While sigmoid volvulus is a known surgical emergency, its diagnosis in situs inversus patients can be challenging due to reversed anatomical landmarks. Imaging plays a critical role in both diagnosis and surgical planning.</p><p><strong>Conclusion: </strong>Awareness of reversed anatomy in situs inversus is crucial for prompt diagnosis and successful surgical management acute abdominal conditions like volvulus.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 9","pages":"6193-6196"},"PeriodicalIF":1.6,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401335/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144991232","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}

{"title":"Poor sleep quality (PSQ) prevalence in patients with functional dyspepsia (FD): a systematic review and meta-analysis.","authors":"Rashmikaa Netyam, Singam Shashank, Chiranjeevee R Saravanan, Nikhil Deep Kolanu, Nanditha Karra, Sai Jahnu Sree Reddy Narla, Priyadarshi Prajjwal, Mohammed Dheyaa Marsool Marsool, Omniat Amir Hussin","doi":"10.1097/MS9.0000000000003616","DOIUrl":"10.1097/MS9.0000000000003616","url":null,"abstract":"<p><strong>Background: </strong>Functional dyspepsia (FD), a disease of the gastroduodenal tract, is one of the functional gastrointestinal disorders (FGID) characterized by postprandial fullness and epigastric pain not attributed to any underlying organic diseases. Sleep quality refers to individuals' satisfaction with their overall sleep, including sleep initiation, maintenance, duration, and feeling refreshed upon waking. Despite frequent associations between sleep disorders and FGID, comprehensive data on poor sleep quality (PSQ) in FD patients is lacking. Therefore, this study was conducted to investigate the occurrence of PSQ in patients with PSQ.</p><p><strong>Methods: </strong>PubMed, Scopus, and Web of Science were systematically searched to identify relevant literature. All studies reporting PSQ prevalence in FD patients or sufficient data to calculate it were included. Pooled prevalence was calculated for all studies, and an odds ratio was determined for studies with a healthy control group. Meta-regression and subgroup analyses assessed the moderating effects of different variables. Publication bias was examined using funnel plots and Egger's test p-value. The work has been reported in line with AMSTAR (Assessing the methodological quality of systematic reviews) Guidelines.</p><p><strong>Results: </strong>To the best of our knowledge, this is the first study that pooled the estimate of prevalence of patients with FD with PSQ. Based on 2138 FD patients, the pooled prevalence of poor sleep quality is 57.2% (95% CI: 37%-75.2%), <i>I</i> ² = 98.4%. The asymmetric funnel plot and Egger's test <i>P</i>-value indicated a significant publication bias for the pooled prevalence estimate. FD patients are at higher risk for poor sleep, with an odds ratio of 2.39 (95% CI: 1.86-3.06), <i>I</i> ² = 1.73%.</p><p><strong>Conclusion: </strong>Poor sleep is highly prevalent among FD patients, who are more susceptible to poor sleep than healthy individuals. The findings of the study should be interpreted with caution owing to the high heterogeneity and the publication bias observed for the pooled prevalence. Future research should standardize diagnostic parameters and investigate other confounding factors like anxiety and depression to achieve more accurate estimates.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 9","pages":"5936-5944"},"PeriodicalIF":1.6,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401232/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144991378","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}

{"title":"Fecal microbiota transplantation as a therapeutic modality for recurrent <i>Clostridioides difficile</i> infection: reviewing efficacy, safety, mechanisms of action, and outcomes.","authors":"Chukwuka Elendu, Eunice K Omeludike, Eunice T Aregbesola, Peace Mordi, George S Blewusi, Afeez O Ogidan, Nzubechukwu G Okeke, Babajide T Obidigbo, Abigail O Asini, Esther S Ubi, Paul O Etakewen, Chinobem A Amahalu, Rogers F Foncham, Lovert T Gana, Chinwe J Onwe, Ohikhuemi F Ojeabuo, Abiola O Ojo, Chigozie S Ikeaba, Nnamdi C Opara","doi":"10.1097/MS9.0000000000003649","DOIUrl":"10.1097/MS9.0000000000003649","url":null,"abstract":"<p><p>Recurrent <i>Clostridioides difficile</i> infection (rCDI) remains a significant global health challenge, characterized by high morbidity, substantial healthcare costs, and an increased risk of severe complications. <i>C. difficile</i>, a gram-positive, spore-forming bacterium, is the primary cause of healthcare-associated diarrhea. The pathogenesis of rCDI is closely tied to gut microbiota disruptions, often triggered by antibiotic use, immunosuppression, and prolonged hospital stays. While effective for initial episodes, standard antibiotic therapies paradoxically exacerbate microbiota dysbiosis, increasing the risk of recurrence. Approximately 20%-30% of patients experience a recurrence after the initial episode, with rates rising to 45%-65% in those with multiple episodes. Fecal microbiota transplantation (FMT) has arrived as a transformative therapy for rCDI, leveraging donor microbiota to restore gut homeostasis and suppress <i>C. difficile</i> colonization. Clinical trials consistently report success rates exceeding 80%, markedly surpassing outcomes with antibiotics. Innovations in delivery methods, including oral capsules, have enhanced FMT's accessibility and patient acceptability. However, concerns surrounding safety and standardization persist. Adverse events, such as gastrointestinal discomfort and rare cases of multidrug-resistant organism transmission, underscore the need for stringent donor screening protocols. Emerging evidence reveals complex mechanisms underpinning FMT's efficacy, including restoring microbial diversity, bile acid metabolism, and short-chain fatty acid production. Long-term benefits, such as sustained microbiota stability, and potential applications in other conditions, including inflammatory bowel disease and metabolic disorders, are promising but require further validation. Addressing challenges in donor selection, regulatory oversight, and personalized approaches will be critical to optimizing FMT as a safe and effective therapeutic strategy for rCDI.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 9","pages":"5829-5850"},"PeriodicalIF":1.6,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144991330","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}

{"title":"Acquired hemophilia a in a female with minimal change disease and hypothyroidism: a rare case report.","authors":"Bishal Budha, Abhishek Chapagain, Dibij Adhikari, Satish Bajracharya, Dhiraj Poudel, Rajan Budha, Subodh Adhikari, Raman Kumar Gurmaita","doi":"10.1097/MS9.0000000000003645","DOIUrl":"10.1097/MS9.0000000000003645","url":null,"abstract":"<p><strong>Introduction: </strong>Juvenile amyotrophic lateral sclerosis (J-ALS) is extremely rare neurodegenerative motor neuron disorder that begins in early childhood or adolescence, before the age of 25 years old. It is characterized by gradual disease progression with comparison to adult-onset ALS and is often linked to genetic mutations.</p><p><strong>Case presentation: </strong>A 16-years-old female presented with long history of generalized weakness since age of 10 years, followed by bilateral sensorineural hearing loss, bulbar symptoms, and limb spasticity. Neurological examination revealed upper motor neuron signs in upper limbs, lower motor neuron signs in lower limbs, and bulbar involvement. Nerve conduction test was normal however, MRI showed early degenerative changes, and diagnosed with J-ALS after careful evaluation. She was started on Riluzole. Despite ICU care and supportive interventions including PEG and tracheostomy, she succumbed to respiratory failure.</p><p><strong>Discussion: </strong>Rarity, atypical presentation, and finical constraints can delay diagnosis of J-ALS. However, early diagnosis after careful evaluation of clinical symptoms, medical history, electrophysiological and imaging studies followed by prompt treatment with Riluzole and supportive interventions can help prolong survival and improve quality of life.</p><p><strong>Conclusion: </strong>J-ALS is a rare motor neuron disease which possess immense diagnostic challenges, can exhibit relentless progression over short period of time with time.</p>","PeriodicalId":8025,"journal":{"name":"Annals of Medicine and Surgery","volume":"87 9","pages":"6168-6172"},"PeriodicalIF":1.6,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401356/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144990889","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}