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.

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.

While renal cell carcinoma (RCC) is often linked to smoking, obesity, and hypertension, hereditary forms also account for about 3% of RCC cases. Notably, NCCN guidelines identify 7 major hereditary syndromes associated with an increased RCC risk. Inherited mutations in DNA repair genes, such as ATM, BRCA, and TP53, significantly increase the risk of various cancers. Biallelic pathogenic mutations in ATM cause Ataxia-Telangiectasia (A-T) syndrome, while heterozygous germline pathogenic ATM mutations, present in about 1% of the population, also elevate cancer risk. RCC has not traditionally been associated with germline pathogenic ATM mutations, only limited retrospective analyses have identified such mutations. This case report presents a 68-year-old woman with a germline pathogenic ATM mutation (c.8786+1 G>A) who developed high-risk clear cell RCC followed by an acquired somatic VHL mutation in RCC and a 3-cm serous cystadenoma, illustrating the double-hit phenomenon. Her brother, who shares the same germline pathogenic mutation, was diagnosed with pancreatic cancer and prostate cancer. This case highlights the potential use for enhanced screening protocols for RCC in patients who have germline pathogenic ATM mutations and the importance of research in targeted treatments for tumors driven by dual genetic mechanisms. Increased awareness and vigilant screening for RCC are crucial in managing hereditary cancer syndromes effectively.

Jehovah's Witnesses is a Christian denomination widely recognized for their steadfast refusal of blood transfusions, even when facing severe anemia. We describe a unique case of a 42-year-old Jehovah's Witness woman with severe iron deficiency anemia. She necessitated surgical correction of a malpositioned gastric band within the context of a complex necrotizing aspiration pneumonia secondary to esophageal obstruction. Medical management of this severe anemia has been a challenge as traditional approaches, like a blood transfusion, are not possible. Instead, a multifaceted approach has been described with intravenous iron infusions, recombinant human erythropoietin, vitamin B₁₂, folate, and vitamin C administration. We emphasize the lack of consensus on guideline protocols regarding management of severe anemia for Jehovah's Witness patients and the subsequent need for more investigation into that matter. It also underscores the significance of respecting patient autonomy through close collaboration between patients and their health care providers to ensure effective patient-centered care.

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.

Nocardia pyomyositis in immunocompetent patients is a rare occurrence. The diagnosis may be missed or delayed with the risk of progressive infection and suboptimal or inappropriate treatment. We present the case of a 48-year-old immunocompetent firefighter diagnosed with pyomyositis caused by Nocardia brasiliensis acquired by direct skin inoculation from gardening activity. The patient developed a painful swelling on his right forearm that rapidly progressed proximally and deeper into the underlying muscle layer. Ultrasound imaging of his right forearm showed a 7-mm subcutaneous fluid collection with surrounding edema. Microbiologic analysis of the draining pus was confirmed to be N brasiliensis by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight (MALDI-TOF) Mass Spectrometry. After incision and drainage deep to the muscle layer to evacuate the abscess and a few ineffective antibiotic options, the patient was treated with intravenous ceftriaxone and oral linezolid for 6 weeks. He was then de-escalated to oral moxifloxacin for an additional 4 months to complete a total antibiotic treatment duration of 6 months. The wound healed satisfactorily and was completely closed by the fourth month of antibiotic therapy. Six months after discontinuation of antibiotics, the patient continued to do well with complete resolution of the infection. In this article, we discussed the risk factors for Nocardia in immunocompetent settings, the occupational risks for Nocardia in our index patient, and the challenges encountered with diagnosis and treatment. Nocardia should be included in the differential diagnosis of cutaneous infections, particularly if there is no improvement of "cellulitis" with traditional antimicrobial regimens and the infection extends into the deeper muscle tissues.

Neuroleptic malignant syndrome (NMS) is a severe adverse reaction associated with neuroleptic or antipsychotic drugs. This case report discusses a 43-year-old man with a history of bipolar disorder and polysubstance abuse who presented with altered mental status, autonomic dysfunction, and muscular rigidity. The patient had recently started on ziprasidone, a second-generation antipsychotic, leading to an atypical presentation of NMS. Unlike classic findings associated with NMS induced by first-generation antipsychotics, this case lacked high fever, lead pipe rigidity, or elevated creatine kinase levels greater than 1000 on initial presentation. The delay in diagnosis was attributed to the milder symptoms and absence of typical findings, resulting in extensive diagnostic workup and interventions. The patient responded positively to treatment with lorazepam based on the Woodbury severity stage guidelines. This case underscores the complexity of diagnosing NMS induced by second-generation antipsychotics and highlights the need for awareness and tailored treatment approaches for atypical presentations.

Skin lesions in chronic lymphocytic leukemia (CLL) have been reported in between 4% and 20% of patients with CLL and are a rare entity compared with T-cell leukemia. They can present mainly as leukemic cutis or, frequently, as secondary lesions such like urticaria, itching, pyoderma gangrenosum, cutaneous vasculitis, Sweet's syndrome, and erythroderma. We report on an adult patient who developed a skin lesion of forearms and hands, leading to the discovery of isolated cutaneous CLL after two biopsies. Isolated CLL cutaneous location is very rare and may be diagnosed late, as in the case of our patient. A better knowledge of the course of the illness and rapid diagnosis of this CLL cutis leukemia will enhance the therapeutic efficacy of the disease.

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.

Mediastinal mature cystic teratomas are rare benign germ cell tumors that predominantly affect children. Despite their low incidence, they present unique diagnostic and management challenges. Early recognition and appropriate surgical intervention are crucial for optimal outcomes. This case report aims to highlight the importance of prompt diagnosis and management of mediastinal mature cystic teratomas in pediatric patients. We present the case of a 10-year-old female patient who presented with persistent chest pain and dyspnea. Imaging studies, including a chest X-ray and contrast-enhanced chest CT scan, revealed a large, well-circumscribed anterior mediastinal mass with calcifications. The patient underwent a right thoracotomy, resulting in the excision of a 6 × 5 × 5 cm mature cystic teratoma. Histopathological examination confirmed the diagnosis. The patient had an uneventful recovery and was discharged in stable condition. Mediastinal mature cystic teratomas pose diagnostic challenges due to their nonspecific symptoms and heterogeneous imaging characteristics. Differential diagnosis includes other mediastinal masses containing fat and calcifications. Surgical excision is the preferred treatment, although complete removal can be challenging due to adhesions to neighboring structures. Close follow-up is necessary to monitor for recurrence and complications. Mediastinal mature cystic teratomas are rare tumors with variable clinical presentations. Early detection and surgical intervention are crucial for optimal outcomes. These tumors should be included in the list of differential diagnoses for mediastinal masses in pediatric patients.