Journal of investigative medicine high impact case reports最新文献

{"title":"Delayed Diagnosis of Partial Anomalous Pulmonary Venous Return in an Adult With Pulmonary Hypertension.","authors":"Sathish Krishnan, Sashi Adigopula, Nitesh Gadeela","doi":"10.1177/23247096251326474","DOIUrl":"10.1177/23247096251326474","url":null,"abstract":"<p><p>Partial anomalous pulmonary venous return (PAPVR) involving the left upper lobe pulmonary vein is an exceptionally rare congenital anomaly that, if untreated, can lead to pulmonary hypertension (PH). Its nonspecific clinical presentation often results in delayed diagnosis. We report the case of a 58-year-old woman who initially presented with progressive dyspnea and was diagnosed with group III pulmonary hypertension attributed to obstructive lung disease. Two years later, she returned with similar symptoms after discontinuing diuretic therapy. Further evaluation uncovered a previously undetected anomalous left pulmonary vein draining into the left innominate vein. This case highlights the diagnostic challenges of PAPVR, its role in contributing to PH, and the critical need for high clinical suspicion and comprehensive evaluation in patients with unexplained pulmonary hypertension.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251326474"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11915243/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143649213","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":"Blue Sclera to Brittle Bones: A Rare Case of Osteogenesis Imperfecta With Dentinogenesis Imperfecta and Nephrocalcinosis.","authors":"Saad Hayat, Ahmad Roshan Mayan, Malik Wz Khan, Qazi Jawad Hayat","doi":"10.1177/23247096251334237","DOIUrl":"https://doi.org/10.1177/23247096251334237","url":null,"abstract":"<p><p>Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility. Its association with dentinogenesis imperfecta (DI) is well documented, but the concurrent presentation with nephrocalcinosis is uncommon and poorly understood. We documented the case of an 18-year-old male presenting with a triad of OI, DI, and nephrocalcinosis. The patient exhibited characteristic features including blue sclera, multiple fractures, dental abnormalities, bowing of long bones, a short stature, and biochemical evidence of altered calcium metabolism. Genetic testing revealed mutations in COL1A1, confirming the diagnosis of OI Type I. This case highlights the importance of comprehensive evaluation in OI patients, emphasizing the need for dental and renal assessment. The presence of nephrocalcinosis in OI demands further investigation into the mechanisms of calcium dysregulation in disorders of these kinds.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251334237"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12033654/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144008511","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 Omental Neuroendocrine Tumor Discovered Incidentally: Case Report.","authors":"Masataka Taki, Toshikatsu Nitta, Ryutaro Kubo, Aki Yoshiyama, Hidero Yoshimoto, Masatsugu Ishii, Takashi Ishibashi, Atsushi Takeshita","doi":"10.1177/23247096241299286","DOIUrl":"10.1177/23247096241299286","url":null,"abstract":"<p><p>Neuroendocrine cells are distributed throughout the body's organs, though neuroendocrine neoplasms are primarily documented in the gastrointestinal tract and pancreas, with rare occurrences elsewhere. Herein, we report a case of primary neuroendocrine tumor of the omentum (omental NET) that was incidentally detected as an omental mass during preoperative screening for colorectal cancer. The patient, a 66-year-old woman, with abdominal pain and decreased oral intake, leading to a diagnosis of obstructive colorectal cancer with a large, 55 mm, mass around the gastropyloric region, which was discontinuous with the gastrointestinal tract. After the placement of a colonic stent at the site of the ascending colon cancer to decompress the colon, a laparoscopic right hemicolectomy was performed, simultaneously excising the mass. Postoperative pathology revealed a neuroendocrine tumor (NET). Subsequent examinations detected no other lesions of suspected primary disease and postoperative somatostatin scintigraphy found no other lesions, establishing a diagnosis of omental NET. The rarity of omental NETs is attributable to the absence of neuroendocrine cells in the omentum. Moreover, solid tumors originating primarily from the omentum are very rare, making preoperative diagnosis difficult; therefore, postoperative pathology should be utilized. We presented a very rare case of omental NET, previously reported only once in the literature, and believe that complete resection with minimal invasiveness should be performed for treatment of this malignancy. In addition, we emphasize the need for continued patient follow-up.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096241299286"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11938437/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692648","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 Rare Culprit or an Elusive Culprit in Disguise? Unraveling Wild-Type ATTR Cardiac Amyloidosis in Heart Failure With Reduced Ejection Fraction.","authors":"Jose Loayza Pintado, Taiwo Ajani, Daniela Hernandez, Everardo Cobos","doi":"10.1177/23247096251345712","DOIUrl":"10.1177/23247096251345712","url":null,"abstract":"<p><p>Cardiac amyloidosis (CA) is a rare disorder caused by the deposition of abnormal proteins called amyloid in the myocardium, leading to dysfunction. The 2 most common forms of amyloidosis are AL (light chain) and ATTR (transthyretin). Diagnosing amyloidosis is challenging, especially in its early stages, due to its nonspecific symptoms and overlap with other conditions. Recent studies suggest that the incidence of wild-type transthyretin amyloidosis is rising, likely due to improved diagnostic techniques and an aging population. We present the case of a 72-year-old male with lower extremity edema, progressive shortness of breath, and worsening renal function. He had a significant medical history, including hypertension, small lymphocytic lymphoma, coronary artery disease, diabetes, and chronic kidney disease. Physical examination revealed orthostatic hypotension and peripheral neuropathy. Imaging showed restrictive cardiomyopathy with reduced ejection fraction. Laboratory tests confirmed anemia and proteinuria, while a bone marrow biopsy ruled out AL amyloidosis. A Tc-99m pyrophosphate scan confirmed the diagnosis of ATTR CA. ATTR often presents with multi-organ involvement, complicating diagnosis. This patient's coexisting conditions, including orthostatic hypotension and renal failure, may have been aggravated by amyloidosis. Misdiagnosis between AL and ATTR can lead to inappropriate treatments, making accurate diagnosis crucial. ATTR requires transthyretin stabilizers and symptom management, while AL needs chemotherapy. Treatment of amyloidosis must be individualized, as autonomic dysfunction, arrhythmias, and renal involvement require careful management. Early diagnosis and differentiation are essential for appropriate treatment and improved outcomes in patients with multi-organ involvement.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251345712"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126662/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144191900","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":"Premature Coronary Artery Disease Presenting as STEMI in a Teenager.","authors":"Morni Modi, Paul Ndunda, Kalgi Modi","doi":"10.1177/23247096251313985","DOIUrl":"10.1177/23247096251313985","url":null,"abstract":"<p><p>An 18-year-old teenager with significant atherosclerotic cardiovascular disease (ASCVD) risk factors developed acute chest pain. His electrocardiogram showed inferior ST-segment elevations. Emergent coronary angiogram revealed complete thrombotic occlusion of the right coronary artery. He underwent stenting of the culprit lesion with complete clinical recovery and resolution of his electrocardiographic abnormalities secondary to myocardial infarction.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251313985"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11760119/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143039577","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":"Suspected Transient Ischemic Attack Related to Dysfunctional Quadricuspid Aortic Valve.","authors":"Arun Katwaroo, Jessica Kawall, Priya Ramcharan, Valmiki Seecheran, Rajeev Seecheran, Nafeesah Ali, Shari Khan, Naveen Anand Seecheran","doi":"10.1177/23247096251313625","DOIUrl":"10.1177/23247096251313625","url":null,"abstract":"<p><p>We describe a 30-year-old Caribbean-Black woman with a clinical presentation suggestive of a transient ischemic attack (TIA) with no conventional cerebrovascular risk factors, albeit with a newly diagnosed quadricuspid aortic valve (QAV) with moderate aortic regurgitation (AR). Although QAV is a recognized congenital cardiac defect, its association with TIA remains elusive. This case highlights the importance of considering potential atypical etiologies, such as QAV, in the evaluation and management of young patients presenting with cerebrovascular events.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251313625"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755524/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006748","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":"Cerebral Septic Emboli: A Unique Complication of <i>Clostridium septicum-</i>Induced Myonecrosis.","authors":"Lily Xu, Iyawnna Hazzard, Faith Sumandea, Yui Seo, Ardavan Afrasiabi","doi":"10.1177/23247096251342027","DOIUrl":"10.1177/23247096251342027","url":null,"abstract":"<p><p>Nontraumatic clostridial myonecrosis infections are predominantly caused by <i>Clostridium septicum</i>. Most patients have an underlying gastrointestinal malignancy. This case presents a rare association of spontaneous clostridial myonecrosis preceding cerebral septic emboli with underlying invasive colorectal adenocarcinoma. A 60-year-old male with a history of hypertension, diabetes, and a family history of colon cancer presented to the emergency room with worsening left-sided chest pain radiating to his left shoulder. Extensive workup revealed elevated D-dimer, troponin, C-reactive protein, white blood cell count, and creatinine phosphokinase. Due to his clinical signs, symptoms, elevated white count, and further decompensation, he was started on antibiotics for sepsis. Physical exam revealed left upper extremity (LUE) crepitus consistent with imaging of innumerable soft tissue gas collections along the LUE. Incision, drainage, and myomectomy were performed due to concerns of myositis and necrotizing infection. Muscle biopsy revealed myonecrosis, and subsequent samples were positive for <i>C. septicum</i>. Postoperative pressor support and several sessions of surgical debridement were required. He continued to deteriorate and developed left-sided paralysis. Computed tomography head revealed several white matter infarcts indicative of septic emboli. The patient slowly recovered neurologically after switching to central nervous system-penetrating antibiotics. Months later, a colonoscopy revealed cecal adenocarcinoma. This case features a unique course of spontaneous <i>C. septicum</i> infection. There are high mortality rates, and previous studies report an association with colorectal malignancies. Therefore, preventative and diagnostic evaluations are imperative with a confirmed <i>C. septicum</i> infection. To our knowledge, this is the first case reported of cerebral septic emboli secondary to spontaneous myonecrosis with <i>C. septicum</i>, highlighting a unique burden of emboli-induced neurological deficits.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251342027"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126657/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144191901","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 Rare Case of <i>Brevibacterium luteolum</i> Bacteremia in a Patient With Acute Promyelocytic Leukemia.","authors":"Lefika Bathobakae, Mansi Patel, Mohita Jariwala, Shaimaa Elshaarawy, Simi Philip, Basil Taha, Jin S Suh","doi":"10.1177/23247096251347409","DOIUrl":"https://doi.org/10.1177/23247096251347409","url":null,"abstract":"<p><p>The <i>Brevibacterium</i> genus is a group of nonmotile, catalase-positive, and aerobic bacteria that form part of the skin flora. <i>Brevibacterium</i> species are an emerging opportunistic bacteria with an unknown pathogenic potential; hence, further research is needed. Most <i>Brevibacterium</i> bacteremia cases have been treated successfully with vancomycin, but there is still no consensus on the duration of treatment or the removal of the infected hardware. We describe a unique case of <i>Brevibacterium luteolum</i> bacteremia in a geriatric male patient undergoing chemotherapy for acute promyelocytic leukemia.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251347409"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144275126","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}

{"title":"An Unusual Presentation of Bullous Skin Lesions During Pregnancy.","authors":"Stanley C Jordan, Bonnie Balzer, Susane Morrison, Allison Truong, Ananth Karumanchi","doi":"10.1177/23247096251347403","DOIUrl":"https://doi.org/10.1177/23247096251347403","url":null,"abstract":"<p><p>Here, we present a 33-years-old pregnant female who at 27-weeks gestation developed an unusual rash on her left knee after a spider bite. The rash rapidly became systemic requiring admission and treatment with high-dose steroids. Patient rapidly developed complications of steroid therapy and saw no benefits in reducing the activity of the rash of symptoms of itching. A repeat biopsy showed linear fluorescence along the dermal epidermal junction with C3 (strong) and IgG (weak) suggestive of pemphigus gestationis (PG). After balancing concerns for the health of the mother and risk for disease transmission to the child, we decided to treat the patient with high-dose intravenous immunoglobulin (IVIg). This resulted in rapid remission of disease and delivery of a healthy child without evidence of PG at 36-weeks gestation. A discussion of the mechanism(s) of action of IVIg that were salutary in this case is presented. Importantly, we discuss the likely benefits of IVIg in saturation of the Fc-receptor neonatal IgG recycling and preservation system in accelerating the degradation of pathogenic IgGs and the inhibitory of effects of IVIg on C3 activation which was the predominant immunoreactant in skin biopsy. The patient recovered completely after the fourth monthly IVIg infusion and continues to do well.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251347403"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144275127","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}

{"title":"<i>Cryptococcus neoformans</i> Meningoencephalitis in a Young Immunocompetent Patient.","authors":"Michael Ke, Neeki Ettefagh, Ahmet Semih Topbas, Mehdi Kazemi","doi":"10.1177/23247096251334235","DOIUrl":"10.1177/23247096251334235","url":null,"abstract":"<p><p>Cryptococcal meningitis is mainly seen in immunocompromised patients, but in recent years, there has been an increase in cases involving patients with no known immunodeficiencies. These patients have symptomatic presentations that range from indolent and mild to typical and severe. We present a case of cryptococcal meningitis in an immunocompetent young patient with a chronic headache. The patient underwent imaging which showed diffuse leptomeningeal enhancement and a lumbar puncture which confirmed <i>Cryptococcus neoformans</i>. She underwent guideline-based treatment for cryptococcal meningitis and improved clinically. Cryptococcal meningitis should be considered in immunocompetent patients who present with typical signs of symptoms of meningitis, particularly chronic headaches and altered mental status.</p>","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"13 ","pages":"23247096251334235"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035003/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144027051","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}