Journal of investigative medicine high impact case reports最新文献

Light-chain multiple myeloma (LCMM) is a rare subtype of plasma cell neoplasm, usually linked to kidney involvement and lytic bone lesions. However, case presents as osseus tumors are very uncommon. A 63-year-old male patient complained of persistent rib pain. Computed tomographic imaging showed an isolated bone tumor in the eighth rib. Further positron emission tomography-computed tomographic scan revealed multiple lytic bone lesions in other areas. Biopsy of the rib lesion confirmed the presence of plasma cells producing kappa light chains. The patient received 4 cycles of daratumumab, bortezomib, lenalidomide, and dexamethasone treatments, resulting in significant improvement. Reviewing literatures, osseus tumor with osteosclerotic lesions has been rarely described in LCMM, underlining the challenge in diagnosis and stressing the importance of considering LCMM in the differential diagnosis of bone tumors.

This case series explores the association between tirzepatide-assisted weight loss and the development of foot drop due to peroneal nerve neuropathy, a phenomenon known as slimmer's paralysis. Two cases are presented of patients who experienced rapid weight loss after initiation of tirzepatide therapy and within 6 to 8 months developed bilateral foot drop. As providers, we have more medications than ever to assist patients in their weight loss journeys, but both of these cases are reminders of the risks of rapid weight loss and the need to monitor therapy closely for patients on tirzepatide and similar medications.

Cases of vulvovaginitis caused by Cryptococcus genus are exceedingly uncommon, with only a handful of instances having been described for this causative species. This report describes a rare case of vulvovaginitis suspected to be caused by Cryptococcus victoriae in a 58-year-old woman residing in an urban area of Hanoi city, Vietnam. The patient with a 10-year history of depression and type 2 diabetes mellitus was admitted to the hospital due to vulvar itching and vaginal discharge. Vaginal swabs confirmed the presence of a yeast infection by direct microscopic examination with 10% KOH and culture on CHROMagar Candida. The yeast was identified as C victoriae using genetic sequencing tools. The patient's treatment plan involved topical clotrimazole and a daily oral dose of 200 mg of itraconazole for 7 days. This comprehensive treatment approach resulted in the patient's full recovery. This is the first reported case of vulvovaginitis attributed to C victoriae in humans worldwide.

Gastrointestinal amyloidosis is a rare condition commonly found in the setting of systemic AL amyloidosis. Amyloid can deposit throughout the gastrointestinal tract and the resulting symptoms vary depending on the site of deposition. Gastrointestinal (GI) manifestations can range from weight loss or abdominal pain, to more serious complications like gastrointestinal bleeding, malabsorption, dysmotility, and obstruction. This case describes a patient with known history of IgG lambda AL amyloidosis, presenting with epigastric pain and unintentional weight loss found to have gastroduodenal amyloidosis. The definitive diagnosis of GI amyloidosis requires endoscopic biopsy with Congo red staining and visualization under polarized light microscopy. There are currently no specific guidelines for the management of GI amyloidosis. Generally, the goal is to treat the underlying cause of the amyloidosis along with symptom management. Our patient is being treated with cyclophosphamide, bortezomib, and dexamethasone (CyBorD) and started on hemodialysis due to progression of renal disease.

Acute esophageal necrosis (AEN), also known as Gurvits syndrome, is a rare and potentially life-threatening condition characterized by necrosis of the esophageal mucosa. Acute esophageal necrosis is often associated with critical conditions, such as myocardial infarction, diabetic ketoacidosis (DKA), coronavirus disease 2019 (COVID-19) infection, or post-surgical complications. Patients typically present with nausea, hematemesis, acute dysphagia, and melena. Given its high mortality rate, prompt detection with upper endoscopy and early initiation of treatment are crucial. Most cases of Gurvits syndrome are managed conservatively using intravenous fluids, proton pump inhibitors, and antibiotics. Herein, we present a case series of AEN in the setting of DKA. Both patients received supportive care and were discharged in a stable condition.

Primary thyroid lymphoma is one of the rare and distinct type of extra nodal lymphomas originating within the thyroid gland. It accounts for less than 5% of all thyroid malignancies and 2% of extra nodal lymphomas. It predominantly affects older adults, with a higher incidence in women. Patients typically present with a rapidly enlarging thyroid mass, accompanied by clinical symptoms of compression such as dysphagia, dyspnea, and hoarseness. Diagnosis is established through a combination of fine-needle aspiration, core needle biopsy, and advanced imaging techniques. Standard treatment involves a multimodal strategy of chemotherapy, often with the addition of radiotherapy and surgical intervention. Herein presented is the first reported case of diffuse large B-cell lymphoma treated with Pola-R-CHP.

Urothelial carcinoma of the upper urinary tract (UTUC) presents a significant clinical challenge, often requiring aggressive surgical intervention for optimal management. We present a case of an 84-year-old woman with recurrent high-grade papillary UTUC of the left renal pelvis, refractory to prior endourologic interventions, who underwent neoadjuvant treatment with pembrolizumab and enfortumab vedotin (Pembro/EV) due to contraindications to cisplatin therapy. Following a favorable response to neoadjuvant therapy, the patient underwent laparoscopic left radical nephroureterectomy, achieving a pathologic complete response. We discuss the utility of Pembro/EV in the perioperative management of patients with UTUC, particularly in those ineligible for cisplatin-based therapy. In addition, we highlight the potential role of somatic mutation testing and the integration of novel therapeutic agents such as olaparib in personalized treatment strategies for UTUC. This case underscores the importance of exploring innovative treatment approaches and optimizing patient selection for kidney preservation strategies in the management of UTUC. Further research and clinical trials are warranted to elucidate the full therapeutic potential of Pembro/EV and other emerging therapies in this setting.

Granulomatous mastitis (GM) is a long-term inflammatory disease of the breast that usually occurs in women of reproductive age. Autoimmune mastitis is one of the most common pathological breast conditions necessitating tailored treatment. However, GM as a first clinical manifestation of sarcoidosis is uncommon. Simultaneous occurrence of GM, erythema nodosum (EN), and arthritis, termed "GMENA" syndrome, is a rare clinical entity associated with autoimmune rheumatic diseases. Herein, we report the case of a 31-year-old female patient with GMENA syndrome, who presented with a painful nodule of the left breast. Initial treatment entailed antibiotics under the presumption of a breast abscess, yielding negligible improvement. During this period, the patient developed polyarthritis and bilateral EN on the lower extremities. Histopathologic examination of the breast tissue exhibited noncaseating granulomas. The patient responded positively to prednisolone and methotrexate treatment. Literature review revealed a coherent pattern across GMENA cases. Our findings suggest that the "GMENA" syndrome represents a unique acute manifestation of sarcoidosis and highlight the necessity for heightened awareness, accurate diagnosis, and tailored therapeutic approaches for GMENA syndrome. Further research is warranted to elucidate its cause and optimize patient management. This case highlights the importance of identifying and effectively managing such interrelated clinical presentations.

Primary polydipsia (PP) is a rare but significant clinical entity in pediatric patients. Here, we present the case of a 16-month-old female referred to our center due to recurrent episodes of electrolyte imbalances. Initially admitted for management of a viral illness, she experienced unexplained electrolyte disturbances, prompting subsequent admissions marked by similar disruptions. Despite stabilization and discharge, her condition persisted. Pre-referral laboratory findings revealed significant electrolyte abnormalities alongside polyuria symptoms. Investigations unveiled a history of frequent heavy wet diapers and increased thirst. Further tests including a water deprivation test excluded diabetes insipidus. Following the restriction of water intake and careful monitoring, her condition markedly improved. This case emphasizes the importance of thorough evaluation in persistent electrolyte imbalances in toddlers, highlighting the role of polyuria as a contributing factor and the efficacy of targeted interventions in managing such cases.

Dermatomyositis (DM) presents with inflammatory myopathy and distinct skin manifestations, often linked to specific autoantibodies. Anti-transcriptional intermediary factor-1 gamma (TIF-1γ) antibodies (Abs) are typically linked to DM in older patients and malignancy in 15% to 40% of cases. We highlight a case of a 24-year-old female who presented with weakness of proximal muscles, periorbital edema, heliotrope rash, erosions on oral mucosa, and painful scaly rash on the lower extremities. Transcriptional intermediary factor-1 gamma Abs were positive, confirming inflammatory myopathy. Treatment with steroid pulse therapy and immunoglobulin led to improvement. Evaluation for malignancy yielded unremarkable results. This case underscores the importance of recognizing and managing DM with TIF-1γ Ab positive, even in atypical demographics, and highlights the need for comprehensive malignancy evaluation.