Medical Reports最新文献_第2页

Eagle's syndrome: A case report on rare sequela following head and neck radiotherapy 头颈部放射治疗后罕见后遗症1例

Medical Reports Pub Date : 2025-05-29 DOI: 10.1016/j.hmedic.2025.100267

Samreen Zaheer, Aditi Agrawal, Nida Asif, Mohammad Akram

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Basal cell ameloblastoma: A rare variant with a comprehensive literature review 基底细胞成釉细胞瘤：一种罕见的变异，文献综述

Medical Reports Pub Date : 2025-05-28 DOI: 10.1016/j.hmedic.2025.100258

Nikita Kashyap , Sudipta Rakshit , S. Aravindan , S. Srihari

引用次数: 0

A case report on isolated dysphagia: An uncommon presentation of myasthenia gravis 孤立性吞咽困难1例：重症肌无力的罕见表现

Medical Reports Pub Date : 2025-05-27 DOI: 10.1016/j.hmedic.2025.100262

Mazen Farhat , Jessy Fadel , Karam Karam , Elias Fiani , Ihab I. El Hajj

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Traumatic prevertebral emphysema: Report of 5 cases 外伤性椎前肺气肿5例报告

Medical Reports Pub Date : 2025-05-25 DOI: 10.1016/j.hmedic.2025.100257

Shafi Ahmed , Upal Chowdhury , Raihana Ahmed , Rivu Raj Chakraborty

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Pediatric CML progression to blast crisis: A case report and review 儿童慢性粒细胞白血病进展到爆炸危机：一个病例报告和回顾

Medical Reports Pub Date : 2025-05-25 DOI: 10.1016/j.hmedic.2025.100260

Abdul Moiz, Zayed Mohiyuddin, Azan E Bilal Maqbool

{"title":"Pediatric CML progression to blast crisis: A case report and review","authors":"Abdul Moiz, Zayed Mohiyuddin, Azan E Bilal Maqbool","doi":"10.1016/j.hmedic.2025.100260","DOIUrl":"10.1016/j.hmedic.2025.100260","url":null,"abstract":"<div><h3>Background</h3><div>Chronic Myeloid Leukemia (CML) is a rare malignancy among children, having an incidence of 1 in a million. It is driven by the Philadelphia chromosome, resulting in the BCR-ABL1 fusion gene. Pediatric cases typically present in the chronic phase and are managed with tyrosine kinase inhibitors (TKIs) like imatinib. However, some cases progress to blast crisis, leading to life-threatening complications such as ARDS as in our case.</div></div><div><h3>Case discussion</h3><div>We report the case of a 14-year-old female with previously undiagnosed chronic myeloid leukemia (CML), who presented with acute symptoms including bleeding gums, fever, cough, jaundice, and respiratory distress. She had a 1.5-year history of progressive fatigue, abdominal pain, and weight loss, managed symptomatically without definitive diagnosis. On admission, she was found to be in blast crisis with a WBC count of 31.3 × 10⁹/L and > 20 % blasts. Imaging revealed hepatosplenomegaly and features of ARDS. Bone marrow biopsy confirmed CML with Philadelphia chromosome positivity. She was treated in the ICU with Imatinib, hydroxyurea, antibiotics, oxygen therapy, and transfusions. Her condition stabilized after three weeks, and she was discharged for follow-up and continued therapy.</div></div><div><h3>Conclusion</h3><div>This case highlights the rarity of chronic myeloid leukemia (CML) in pediatric patients, which can present with severe symptoms and life-threatening complications like ARDS. Physicians should maintain a high suspicion for underlying malignancy in children with unexplained progressive illness, as early detection and intervention are critical for preventing fatal outcomes.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"13 ","pages":"Article 100260"},"PeriodicalIF":0.0,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144134170","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

Presentation of clinical features of microcephalic primordial dwarfism associated with a rare variant in the DNMT3A gene and synchronous epiglottic and esophageal cancers 与DNMT3A基因罕见变异相关的小头型原始侏儒症的临床特征和同步会声和食道癌

Medical Reports Pub Date : 2025-05-23 DOI: 10.1016/j.hmedic.2025.100259

Iole Ribizzi-Akhtar , Shaolei Lu , Maania Naseem

{"title":"Presentation of clinical features of microcephalic primordial dwarfism associated with a rare variant in the DNMT3A gene and synchronous epiglottic and esophageal cancers","authors":"Iole Ribizzi-Akhtar , Shaolei Lu , Maania Naseem","doi":"10.1016/j.hmedic.2025.100259","DOIUrl":"10.1016/j.hmedic.2025.100259","url":null,"abstract":"<div><div>Microcephalic primordial dwarfism (MPD) has been associated with germline gain-of-function of DNMT3A which is a gene encoding for a DNA methyltransferase 3 alpha, involved in epigenetic regulation, especially during embryonic development (Tenorio et al., 2020 [1]). Somatic variants in DNMT3A have been widely studied in different types of tumors, including acute myeloid leukemia, hematopoietic and lymphoid cancers. This report describes the case of a 37-year-old male with clinical features of MPD and heterozygous for a variant in the DNMT3A gene, c.911_913del:p.(Ser304del) in exon 8, who presented with severe weight loss and dysphagia and found with two synchronous distinct masses in the epiglottis and upper esophagus. Endoscopy guided biopsies of the epiglottic mass showed a poorly differentiated squamous cell carcinoma (SCC), and esophageal biopsy was consistent with a well to moderately differentiated SCC with keratinization. Next Generation sequence analysis (NGS) of both cancers showed overlapping pathways involving TP53 and MUTYH and similar PD-L1 combined positive score (CPS). The patient was treated with palliative radiation according to the Quad Shot regimen on the epiglottic and esophageal masses. Unfortunately, he deteriorated rapidly, and the family decided to transition to hospice care. This is the first case of a patient with clinical features of MPD and heterozygous for an in-frame deletion of DNMT3A, developing two synchronous cancers.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"13 ","pages":"Article 100259"},"PeriodicalIF":0.0,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144169488","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

An unusual case of doxycycline-induced pancreatitis 强力霉素引起的罕见胰腺炎一例

Medical Reports Pub Date : 2025-05-21 DOI: 10.1016/j.hmedic.2025.100256

Chloe Lahoud, Michel Al Achkar, Toni Habib, Tanvi Lather, Mara Lagzdins

引用次数: 0

Crohn's disease associated with Takayasu arteritis: Case report 克罗恩病合并高须动脉炎1例报告

Medical Reports Pub Date : 2025-05-20 DOI: 10.1016/j.hmedic.2025.100252

Maria Luiza de Andrade , Vivian de Souza Menegassi , Monique Kowalski Schmitz , Camila Marques de Valois Lanzarin

引用次数: 0

Plasmablastic Lymphoma of maxilla in an HIV-negative, immunocompetent patient: A case report on unusual occurrence hiv阴性、免疫功能正常患者发生上颌骨浆母细胞淋巴瘤1例

Medical Reports Pub Date : 2025-05-19 DOI: 10.1016/j.hmedic.2025.100253

Mohd Zulkimi Roslly , Anis Suhana Hashim

引用次数: 0

Atraumatic Isolated Peroneal Compartment Syndrome: A Case Report 非外伤性孤立性腓骨筋膜室综合征1例

Medical Reports Pub Date : 2025-05-19 DOI: 10.1016/j.hmedic.2025.100255

Mahmoud Abdullah Elmahy , Isam Sami Moghamis , Amgad M. Elshoeibi , Mohamed Khalaf , Salahuddeen Abdelsalam , Nasser Mehrab Khan , Abdulmoeen Baco

{"title":"Atraumatic Isolated Peroneal Compartment Syndrome: A Case Report","authors":"Mahmoud Abdullah Elmahy , Isam Sami Moghamis , Amgad M. Elshoeibi , Mohamed Khalaf , Salahuddeen Abdelsalam , Nasser Mehrab Khan , Abdulmoeen Baco","doi":"10.1016/j.hmedic.2025.100255","DOIUrl":"10.1016/j.hmedic.2025.100255","url":null,"abstract":"<div><div>Acute compartment syndrome (ACS) is a surgical emergency that is frequently brought on by trauma and is characterized by increased pressure inside a closed osteofascial compartment. However, because of its unusual presentation and absence of acute trauma, atraumatic ACS, especially when isolated to the peroneal compartment, is uncommon and challenging to identify. We describe a case of a 24-year-old man who had no prior history of direct trauma and who presented with atraumatic left leg discomfort and swelling after physical activity. At another hospital, muscle cramps were initially diagnosed, but as symptoms worsened, additional testing was necessary. Physical examination showed a hard lateral compartment, loss of dorsiflexion, and decreased feeling over the dorsum and lateral portions of the foot. Laboratory investigations showed increased creatinine kinase (CK) and myoglobin levels. No bone pathology was visible in the radiographic imaging. Surgical decompression via fasciotomy revealed necrotic peroneal muscles and a hematoma collection. The patient underwent staged debridement and wound management, eventually achieving wound closure and functional recovery with physiotherapy. Six-month follow-up showed restored muscle power. This case emphasizes the importance of considering ACS in atraumatic leg pain and swelling, particularly when CK levels are elevated.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"13 ","pages":"Article 100255"},"PeriodicalIF":0.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144106994","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