Case Reports in Medicine最新文献

{"title":"Atypical Presentation of Amyloidosis in a Female Patient with Muscle Weakness.","authors":"Raziyeh Lashkari,&nbsp;Maryam Loghman,&nbsp;Leila Aghaghazvini,&nbsp;Hiva Saffar,&nbsp;Bentolhoda Ziaadini,&nbsp;Reza Shahriarirad,&nbsp;Mohammad Nekooeian,&nbsp;Mohammad Nejadhosseinian,&nbsp;Majid Alikhani","doi":"10.1155/2023/1553163","DOIUrl":"https://doi.org/10.1155/2023/1553163","url":null,"abstract":"<p><p>Muscle involvement represents a well-recognized but rare manifestation of amyloidosis. Here, we report a 40-year-old female who presented with muscle weakness, musculoskeletal pain, and proteinuria, which was eventually diagnosed as myopathic amyloidosis based on muscle biopsy results. A multidisciplinary approach appears to be the cornerstone of the diagnostic work up for recognizing the unusual amyloid myopathy.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2023 ","pages":"1553163"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118899/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9756687","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":"\"Extreme Nephroptosis\": A Kidney in the Inguinal Hernia.","authors":"Dmytro Shchukin,&nbsp;Vladyslav Demchenko,&nbsp;Andrii Arkatov,&nbsp;Roman Stetsyshyn,&nbsp;Gennadii Khareba,&nbsp;Vladyslav Bielov","doi":"10.1155/2023/1439919","DOIUrl":"https://doi.org/10.1155/2023/1439919","url":null,"abstract":"<p><p>We present an extremely rare case of renal ptosis from the normal orthotopic position into the cavity of inguinal hernia in a 93-year-old male patient. The following clinical case was accompanied by renal insufficiency, which was associated with the obstruction of the right ureter in the hernial sac and the stenosis of the left renal artery. The differential diagnosis between nephroptosis and dystopic kidney was based on MDCT scan images, which demonstrated the length of the right renal artery to be more than 20 cm. The patient underwent percutaneous nephrostomy through the right inguinal area and was successfully followed up for two years. We also analyzed six similar clinical cases described in the literature. This disease has, thus far, been observed exclusively in elderly men with long-standing and large inguinal hernias. The most frequent complications in these patients include ureteral strangulation in the area of the hernial gate and renal failure.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2023 ","pages":"1439919"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10435303/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10050597","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":"Acute Abdominal Pain as a Result of an Isolated Left Ovarian Vein Thrombosis.","authors":"Abhay Setia,&nbsp;Farzin Adili,&nbsp;Karl Ludwig,&nbsp;Joerg Herold","doi":"10.1155/2023/9528088","DOIUrl":"https://doi.org/10.1155/2023/9528088","url":null,"abstract":"<p><p>Ovarian vein thrombosis (OVT) is a rare thromboembolic condition. It involves the right ovarian vein in 70-80% of cases. The risk factors for the development of OVT are pregnancy or puerperium, hormone therapy with estrogen, recent surgery or hospitalization, malignancy, pelvic inflammatory diseases, thrombophilia and idiopathic OVT. We present a rare case of left OVT in a young, non-pregnant woman in her 30 s. A high degree of suspicion is necessitated in patients with the triad of young-middle-aged female, pain abdomen in lower quadrant and hematuria to diagnose OVT. Contrast enhanced computer tomography (CT-venography) is the diagnostic modality of choice. The patient was initially treated with low molecular weight heparin and then switched to direct oral anticoagulants. At 6-monthsfollow-up the patient was free from any symptoms.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2023 ","pages":"9528088"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10148740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9768459","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":"Managing Follicular Lymphoma in the Elderly Population.","authors":"Jiao Jie Cherie Tan,&nbsp;Yuen Lei Sze,&nbsp;Clarice Choong Shi Hui","doi":"10.1155/2023/1038934","DOIUrl":"https://doi.org/10.1155/2023/1038934","url":null,"abstract":"<p><p>Follicular lymphoma (FL) is one of the most commonly diagnosed types of indolent non-Hodgkin lymphoma (NHL). The median age of diagnosis for FL is 65 years old. Although the median life expectancy after diagnosis is approximately 10 years, the incurable disease has a high risk of transformation. This case report focuses on an 80-year-old patient diagnosed with low-grade follicular lymphoma which subsequently transformed leading to the patient's eventual demise as the patient took on the palliative intent. This case report aims to highlight the importance of clinical markers or prognostic factors to identify patients, specifically the elderly population who are at risk of transformation to aggressive forms when their FL remains at stage I-II phases. Currently, elderly patients with FL tend to be quickly dismissed with curative intent with chemotherapy, given their age and comorbidities, despite forming the majority of the population with follicular lymphoma. Age more than 60 years old has been shown to be one of the most powerful yet poor prognostic features in follicular lymphoma international prognostic index (FLIPI)-the main scoring system used for FL. Hence, further studies are required to look into the tailoring treatment for elderly patients with follicular lymphoma after risk stratifying them with appropriate clinical and prognostic markers.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2023 ","pages":"1038934"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9836818/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9099345","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":"Pathological Correlation of a Cardiac Mass with Multimodality Imaging.","authors":"Sumit Sohal,&nbsp;Farida A Tanko,&nbsp;Esad Vucic,&nbsp;Sergio Waxman,&nbsp;Suresh Gupta,&nbsp;Billie Fyfe-Kirschner","doi":"10.1155/2023/7352934","DOIUrl":"https://doi.org/10.1155/2023/7352934","url":null,"abstract":"<p><p>Cardiac masses are rarely encountered in clinical practice and can lead to severe hemodynamic consequences. In addition to clinical cues, noninvasive modalities can play an important role in characterization of these masses and therefore their diagnosis and management planning. Here in this case report, we describe the use of various forms of noninvasive imaging techniques to narrow the differential diagnosis and form an operative plan for a cardiac mass later identified as a benign myxoma originating from the right ventricle on histological examination.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2023 ","pages":"7352934"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10129422/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9363393","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":"<i>DNAH11</i> and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature.","authors":"Fatemeh Sodeifian,&nbsp;Noosha Samieefar,&nbsp;Sepideh Shahkarami,&nbsp;Elham Rayzan,&nbsp;Simin Seyedpour,&nbsp;Meino Rohlfs,&nbsp;Christoph Klein,&nbsp;Delara Babaie,&nbsp;Nima Rezaei","doi":"10.1155/2023/8436715","DOIUrl":"https://doi.org/10.1155/2023/8436715","url":null,"abstract":"<p><strong>Background: </strong>Primary ciliary dyskinesia (PCD), also known as the immotile-cilia syndrome, is a clinically and genetically heterogeneous syndrome. Improper function of the cilia causes impaired mucociliary clearance. Neonatal respiratory distress, rhinosinusitis, recurrent chest infections, wet cough, and otitis media are respiratory presentations of this disease. It could also manifest as infertility in males as well as laterality defects in both sexes, such as situs abnormalities (Kartagener syndrome). During the past decade, numerous pathogenic variants in 40 genes have been identified as the causatives of primary ciliary dyskinesia. <i>DNAH11</i> (dynein axonemal heavy chain 11) is a gene that is responsible for the production of cilia's protein and encodes the outer dynein arm. Dynein heavy chains are motor proteins of the outer dynein arms and play an essential role in ciliary motility. <i>Case Presentation</i>. A 3-year-old boy, the offspring of consanguineous parents, was referred to the pediatric clinical immunology outpatient department with a history of recurrent respiratory tract infections and periodic fever. Furthermore, on medical examination, situs inversus was recognized. His lab results revealed elevated levels of erythrocyte sedimentation rate (ESR) and C reactive protein (CRP). Serum IgG, IgM, and IgA levels were normal, while IgE levels were elevated. Whole exome sequencing (WES) was performed for the patient. WES demonstrated a novel homozygous nonsense variant in <i>DNAH11</i> (c.5247G > A; p. Trp1749Ter).</p><p><strong>Conclusion: </strong>We reported a novel homozygous nonsense variant in <i>DNAH11</i> in a 3-year-old boy with primary ciliary dyskinesia. Biallelic pathogenic variants in one of the many coding genes involved in the process of ciliogenesis lead to PCD.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2023 ","pages":"8436715"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10154638/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9486195","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":"Association of <i>CYP2C9∗3</i> and <i>CYP2C8∗3</i> Non-Functional Alleles with Ibuprofen-Induced Upper Gastrointestinal Toxicity in a Saudi Patient.","authors":"Amina M Bagher","doi":"10.1155/2023/6623269","DOIUrl":"https://doi.org/10.1155/2023/6623269","url":null,"abstract":"<p><p>Ibuprofen is a non-steroidal anti-inflammatory drug (NSAID) widely used to alleviate pain and inflammation. Although it is generally considered safe, common adverse drug reactions of ibuprofen include stomach pain, nausea, and heartburn. It can also cause gastrointestinal (GI) bleeding, especially in individuals with a history of GI ulcers or bleeding disorders. Ibuprofen is predominantly metabolized by the cytochrome P450 (CYP) enzymes CYP2C9 and CYP2C8. Individuals carrying the <i>CYP2C9</i>∗<i>3</i> or <i>CYP2C8</i>∗<i>3</i> non-functional alleles have reduced enzyme activities resulting in elevated ibuprofen plasma concentrations and half-life. We presented a case of a 31-year-old Saudi female patient with a history of rheumatoid arthritis (RA) who had taken ibuprofen at 600 mg twice daily for eight weeks. The patient presented to the emergency department with symptoms including nausea, vomiting, severe abdominal pain, and black tarry stools. An emergency esophagogastroduodenoscopy was performed on the patient, which revealed a deep bleeding ulcer measuring 1 × 1 cm in the antrum of the stomach. Laboratory investigations indicated anemia (hemoglobin: 7.21 g/dL and hematocrit: 22.40 g/dl). The patient received intravenous proton pump inhibitors and a packed red blood cell transfusion. Genetic analysis revealed that the patient was a carrier of <i>CYP2C9</i>∗<i>3 and CYP2C8</i>∗<i>3</i> variant alleles, indicating that the patient is a poor metabolizer for both enzymes. The patient's symptoms improved over the subsequent days, and she was discharged with instructions to avoid NSAIDs. This is the first reported Saudi patient homozygous for <i>CYP2C9</i>∗<i>3 and CYP2C8</i>∗<i>3</i> variant alleles, which led to ibuprofen-induced upper GI toxicity. This case demonstrates the importance of contemplating <i>CYP2C9</i> and CYP2C8 genetic variations when administrating NSAIDs like ibuprofen. Careful assessment of the risks and benefits of NSAID therapy in each patient and consideration of alternative pain management strategies must be conducted when appropriate.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2023 ","pages":"6623269"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10382241/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9906732","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":"Recurrent Strokes in a Woman with a History of Thrombotic Thrombocytopenic Purpura.","authors":"Ijele Adimora,&nbsp;Bingnan Zhang,&nbsp;Modupe Idowu","doi":"10.1155/2023/7070189","DOIUrl":"https://doi.org/10.1155/2023/7070189","url":null,"abstract":"<p><p>Thrombotic thrombocytopenic purpura (TTP) is a microangiopathy characterized by mechanical hemolytic anemia, resulting in end-organ damage. We describe a case of TTP which presented as an ischemic stroke. The patient presented with stroke as the primary manifestation of TTP despite a normal platelet count and mildly elevated lactate dehydrogenase level (LDH). The patient underwent two transfusions of fresh frozen plasma (FFP), and ADAMTS13 levels confirmed the diagnosis of TTP after discharge. This case demonstrates the importance of maintaining a high index of suspicion for TTP in the setting of normal laboratory values and reveals the many atypical manifestations of TTP.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2023 ","pages":"7070189"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10412150/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10332197","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":"Antithrombin Deficiency Is Associated with a Novel Homozygous Detrimental Mutation in <i>SERPINC1</i> Gene in a Saudi Female.","authors":"Sana Alqarni,&nbsp;Baraah Alqarni,&nbsp;Abdulrahman Alsultan","doi":"10.1155/2023/8872346","DOIUrl":"https://doi.org/10.1155/2023/8872346","url":null,"abstract":"<p><p>Antithrombin (AT) deficiency is a blood disorder associated with an increased tendency to form thrombosis. Hereditary AT deficiency is frequently caused by mutations in <i>SERPINC1</i> gene. It is usually inherited as an autosomal dominant with variable penetrance. Homozygous pathogenic mutations in this gene are extremely rare. We present a case of a 7-year-old female who presented at age of 4 years with massive cerebral sinus venous thrombosis. Thrombophilia workup showed a low AT level of 30%. Targeted genetic sequencing of <i>SERPINC1</i> revealed a novel pathogenic homozygous mutation c.1320C>G p. (Phe440Leu). The patient was managed initially with unfractionated heparin with AT replacement using fresh frozen plasma and was later switched to only low-molecular-weight heparin. There was no recurrence or new thrombosis with 3 years of follow-up.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2023 ","pages":"8872346"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10139800/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9763069","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":"Splenic Lymphangioma Mimicking Lymphomatous Involvement: A Case Report with Review of the Literature.","authors":"Neda Soleimani,&nbsp;Fatemeh Pouraminaee,&nbsp;Mohammad Hossein Anbardar,&nbsp;Ali Bahador,&nbsp;Benyamin Rahimi,&nbsp;Sahand Mohammadzadeh,&nbsp;Fatemeh Aghakhaninejad,&nbsp;Mohammad Farahmand,&nbsp;Mahsa Hasani","doi":"10.1155/2023/9969213","DOIUrl":"https://doi.org/10.1155/2023/9969213","url":null,"abstract":"<p><p>Lymphangioma is a benign malformation of lymphatic vessels usually found in the head and neck areas or axilla. They may involve visceral organs with a lower percentage. Splenic lymphangioma is a rare tumor. This disease is often seen in children but may be diagnosed incidentally in adults. Most patients are asymptomatic, but in large and multifocal lesions, the patient may have some nonspecific symptoms such as abdominal pain, abdominal distention, nausea, vomiting, and loss of appetite. Physical examination may show no specific findings or detect palpable masses. The preoperative diagnosis of splenic lymphangioma is challenging. Histopathological evaluation and sometimes immunohistochemistry tests can result in a definitive diagnosis. In this study, we present an 18-year-old man, with Burkitt's lymphoma who underwent laparotomy and total splenectomy as a result of cystic lesions discovered accidentally during imaging with the final diagnosis of splenic lymphangioma after histopathological evaluation.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2023 ","pages":"9969213"},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10299890/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9735367","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}