Journal of investigative medicine high impact case reports最新文献

Multivalvular endocarditis is a rare and potentially fatal complication that can occur in people who inject drugs. Currently, there are few cases that have been studied or reported in literature. A complication of this manifestation that worsens prognosis and treatment is the distribution of septic emboli throughout the body which highlights the dissemination of the infection. There are no specific guidelines on the treatment of multivalvular endocarditis, but its complexity can present challenges in administering medical and surgical treatment. In this case of a 37-year-old man with infective endocarditis of 3 valves, a comprehensive work-up found septic emboli in the lungs, kidneys, ribs, spine, and brain with ophthalmologic involvement that resulted in visual impairment. This case highlights important complications that can occur with septic emboli and management of these issues using a multidisciplinary approach including the treatment of substance use disorder.

Macrophage activation syndrome (MAS) is a form of secondary hemophagocytic lymphohistiocytosis (HLH) when it occurs in the context of rheumatologic disorders. HLH is a rare and potentially life-threatening syndrome characterized by excessive immune system activation. It is mainly seen in children and can be genetic based or related to infections, malignancies, rheumatologic disorders, or immunodeficiency syndromes. MAS can present with nonspecific symptoms, leading to a delay in diagnosis. This report describes a case of a 64-year-old female with marginal zone lymphoma and systemic lupus erythematosus who presented with a purpuric rash and acute kidney injury. She underwent a kidney biopsy and was diagnosed with MAS. This case highlights the importance of promptly recognizing MAS's symptoms and signs, allowing timely diagnosis and early therapeutic intervention. This potentially fatal condition tends to respond well to rapid treatment initiation with corticosteroids and to address the underlying condition.

Plasmacytoma is a rare plasma cell dyscrasia that grows in bones or soft tissues such as the pharynx. Soft tissue plasmacytomas are rare, and a higher burden has been reported in the upper aero-digestive tract, often manifesting as hoarseness, dysphagia, or odynophagia. Due to their rarity, extramedullary plasmacytomas (EMPs) have unknown prognostic factors, and guidelines for optimal management are still lacking. However, radiation therapy and surgery have been used with positive outcomes. Herein, we describe a unique case of plasmacytoma of the pharyngeal tissue in a male patient with a history of HIV disease. The patient completed 28 sessions of radiation therapy, resulting in an improvement in his throat pain and hoarseness. Given the patient's age and lack of traditional risk factors for head and neck cancers, his hoarseness and odynophagia proved to be a diagnostic conundrum. Although infrequent, soft tissue plasmacytomas should be considered in the differential diagnosis of head and neck tumors.

The antemortem diagnosis of secondary cardiac involvement by lymphoma remains suboptimal. Prognosis is worse with delayed diagnosis as the tumor burden increases with the multicompartment participation. Chemotherapy may improve survival, but there is a risk of mortality due to treatment-related complications, such as myocardial rupture and fatal arrhythmias. Modified chemotherapy regimens may prevent such complications, but the data are limited. We report the case of a 72-year-old woman diagnosed with diffuse large B-cell lymphoma with cardiac involvement, where early diagnosis prevented cardiac complications from the disease and its treatment as well. The aim of this case report is to highlight the fact that cardiac involvement in lymphoma is frequent and can be easily missed, leading to complications. Treatment requires an individualized approach.

Infectious esophagitis (IE) is the leading cause of esophagitis, second only to gastroesophageal reflux disease. Infectious esophagitis is typically observed in immunocompromised individuals due to neutropenia, HIV/AIDS, solid organ malignancies, cancer-directed therapy, or chronic steroid use. The most common causes of IE are herpes simplex virus (HSV), cytomegalovirus (CMV), and Candida albicans. Acute bacterial esophagitis is exceedingly rare, particularly in immunocompetent patients. Herein, we describe a unique case of acute streptococcal esophagitis in a male patient with no pertinent medical history. The patient's substernal chest pain and odynophagia resolved after antibiotic treatment.

Complete and precise knowledge of the neck anatomy and its eventual anomalies is crucial while performing a safe thyroid and parathyroid surgery. Embryo-genetic malformations of the IV branchial arch can lead to an uncommon anatomical alteration known as non-recurrent inferior laryngeal nerve. Its prevalence varies between 0.7% for the dextral branch and 0.04% for the sinistral. In these cases, the inferior laryngeal nerve branches originate directly from the cervical vagus nerve, entering the larynx without hooking, on the right side around the subclavian artery or on the left around the aortic arch. The presence of a non-recurrent laryngeal nerve is challenging, due to the increased risks of iatrogenic damage to the nerve, which results in hoarseness, dysphagia, glottal obstruction, vocal cords palsy, and serious airway impairment. We present the case of a 58-year-old woman. The patient was admitted to our department for a nodule classified as Bethesda IV in the right thyroid lobe. Through the use of intraoperative neuromonitoring (IONM), surgeons detected intraoperatively a non-recurrent laryngeal nerve. A subsequent computed tomography scan confirmed an anomalous right subclavian artery branching from the left aortic arch, the Lusoria Artery. Anatomical variants represent pitfalls in this case and an accurate knowledge of the neck region is imperative while performing thyroid surgery. Devices such as IONM are useful for detecting abnormalities that may lead to iatrogenic damages.

Paclitaxel plus carboplatin is the most common regimen for the treatment of ovarian cancer. While generally effective, these chemotherapy agents can cause adverse events such as myelotoxicity, nausea, vomiting, and rarely, hepatotoxicity. Paclitaxel is associated with mild elevations in serum aminotransferase levels, but significant hepatotoxicity is uncommon, particularly in patients without prior liver disease. We present a patient with ovarian cancer who developed significant elevation of serum aminotransferases up to 12 times the upper limit of normal after the first cycle of paclitaxel plus carboplatin chemotherapy. Extensive evaluations excluded other potential causes of liver injury and the diagnosis of paclitaxel-induced liver injury was confirmed. The patient was treated with liver protective medications and a reduced dose of paclitaxel (135 mg/m²) for subsequent cycles. Her liver function tests stabilized within 2 to 3 times the upper limit of normal, allowing continuation of chemotherapy and achieving a favorable outcome.

Gastric cancer ranks as the fifth leading cause of global cancer incidences, exhibiting varied prevalence influenced by geographical, ethnic, and lifestyle factors, as well as Helicobacter pylori infection. The ATM gene on chromosome 11q22 is vital for genomic stability as an initiator of the DNA damage response, and mutations in this gene have been associated with various cancers. Poly ADP-ribose polymerase (PARP) inhibitors, such as olaparib, have shown efficacy in cancers with homologous recombination repair deficiencies, notably in those with ATM mutations. Here, we present a case of a 66-year-old patient with germline ATM-mutated metastatic gastric cancer with very high CA 19-9 (48 000 units/mL) who demonstrated an exceptional response to the addition of olaparib to chemo-immunotherapy and subsequent olaparib maintenance monotherapy for 12 months. CA 19-9 was maintained at low level for 18 months. Despite the failure of a phase II clinical trial on olaparib in gastric cancer (NCT01063517) to meet its primary endpoint, intriguing findings emerged in the subset of ATM-mutated patients, who exhibited notable improvements in overall survival. Our case underscores the potential clinical utility of olaparib in germline ATM-mutated gastric cancer and emphasizes the need for further exploration through larger clinical trials. Ongoing research and clinical trials are essential for optimizing the use of PARP inhibitors, identifying biomarkers, and advancing personalized treatment strategies for gastric cancer.

Cryptococcal meningitis (CM) is a severe and often fatal infection of the central nervous system that is caused by Cryptococcus spp. Cryptococcal meningitis mainly affects immunocompromised individuals such as those with AIDS, organ transplantation recipients, and those with conditions requiring prolonged immunosuppressive therapy. Infection typically begins with the inhalation of cryptococcal spores, often from bird droppings, which can remain dormant in the lungs and lymph nodes before disseminating to the central nervous system. Signs and symptoms include headache, nausea, and cognitive impairment, which can progress to severe neurological complications if not promptly treated. Even in the era of antifungal and antiretroviral therapies, CM remains a public health challenge with substantial morbidity and mortality. Although rare, sporadic cases of cryptococcal neoformans/gattii coinfection with Mycobacterium tuberculosis, Streptococcus pneumoniae, and Treponema pallidum have been reported in the literature. Herein, we describe an extremely rare case of fulminant meningitis due to herpes simplex virus (HSV)-2 and Cryptococcal neoformans coinfection. Our patient also had cryptococcemia, which is known to increase acute mortality rates in patients with CM.

Systemic lupus erythematosus (SLE) is an autoimmune disease targeting multiple organs through immune complexes. Pericarditis and pericardial effusions are often encountered; however, cases of biventricular failure are notably less common in the setting of SLE. We report a 43-year-old male patient presenting with cardiac tamponade with biventricular failure in SLE. Our patient with known SLE, not on medication, presented with exertional dyspnea. He had decreased heart sounds, jugular venous distention, and right-sided inspiratory crackles on physical examination. On further investigation, he was found to have a reduced ejection fraction (EF) of 10% to 15% and moderate pericardial effusion. He was treated with immunosuppressive therapy and goal directed medical theraphy (GDMT), with improvement in his EF to 58% 3 months later. This case demonstrates the importance of early recognition of SLE-induced tamponade and the vitality of prompt medical therapy to reduce any further cardiac deterioration.