Journal of investigative medicine high impact case reports最新文献

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors in the digestive tract and arise from the interstitial cells of Cajal in the mesenteric plexus. These tumors can originate in any part of the GI tract; however, a higher burden has been observed in the stomach and small intestines. Mesenteric GISTs are exceedingly rare, with unique clinicopathological features and a poorer prognosis. Herein, we describe a unique case of a 66-year-old female with a remote history of appendectomy who presented to the emergency room complaining of severe abdominal pain and vomiting. On imaging, the patient was found to have a large inflammatory mass associated with small bowel loops, and the pathology confirmed a mesenteric GIST. The tumor was resected, and the genomic test results confirmed the KIT (exon 11) mutation. Although the tumor had a low mitotic rate, the tumor was large enough to warrant the initiation of adjuvant imatinib mesylate for 36 months with regular bloodwork and imaging.

Primary pancreatic lymphomas (PPLs) are a subgroup of gastrointestinal (GI) lymphomas. They are an exceedingly rare entity, both in terms of pancreatic malignancies and also extranodal lymphomas. Epidemiological investigations have been challenging to do because of their rarity. This has resulted in a lack of clarity on the clinicopathological characteristics, differential diagnosis, best course of treatment, and prognosis of PPL. Because the clinical signs are frequently non-specific, it can lead to a diagnostic hazard for the unwary physician. Preoperatively, it is imperative to distinguish between adenocarcinoma and PPL, as they present similarly, but have vastly different treatment modalities and prognosis. We herein present a case of an elderly man who presented with obstructive jaundice and was found to have PPL.

Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides are a group of immune-mediated diseases characterized by inflammation of small vessels, leading to endothelial injury with subsequent tissue damage. Current guidelines recommend induction therapy with rituximab over cyclophosphamide for severe disease activity. In this case series-based review, the authors discuss 3 cases of granulomatosis with polyangiitis (GPA) with proteinase-3 (PR3) disease that deteriorated following induction therapy with rituximab combined with mycophenolate mofetil and high-dose steroids. All 3 patients subsequently required salvage therapy with cyclophosphamide. Our experience suggests there is a temporal window where induction with rituximab is not fully effective, and deterioration or death can ensue. Expert recommendations do not offer a preferential protocol for induction with either rituximab or cyclophosphamide, with some even using a combination of both.

Cocaine is an indirect-acting sympathomimetic drug that inhibits norepinephrine and dopamine reuptake in the adrenergic presynaptic cleft. Cocaine use has been associated with strokes, angina, arrhythmias, and agitation. Data on gastrointestinal complications such as mesenteric ischemia, bowel necrosis, ulceration, and perforation are scarce. Here, we present a rare case of cocaine-induced esophageal, gastric, and small bowel necrosis that contributes to the limited literature on this subject. Diagnosis of cocaine-induced gastrointestinal complications involves a combination of imaging studies, laboratory assessments, and histopathological examinations. Timely surgical resection, supported by intravenous fluids, antibiotics, and pain management, is the mainstay of treatment. The prognosis varies but is significantly influenced by the promptness and effectiveness of the intervention, underscoring the importance of vigilant clinical care in such cases.

Stevens-Johnson syndrome is an infrequent condition affecting the skin and mucous membranes, it involves cutaneous detachment with high mortality without adequate treatment. We present the case of a 40-year-old male with a history of epilepsy treated with valproic acid and lamotrigine, previously diagnosed with dengue. Evaluation showed erythematous blisters on skin and mucosa with bleeding and desquamation, covering 10% of the body surface. The patient progressed favorably with the medical care received. Stevens-Johnson syndrome should be studied in association with arboviral diseases.

Breast pain is a common concern among women in primary care clinics. A rare cause of breast pain is Mondor's disease (MD), which can present as an acute, painful, erythematous, cord-like induration on the breast or anterior chest wall. The disorder is caused by sclerosing superficial thrombophlebitis of the anterolateral thoracoabdominal wall veins. There does not appear to be a racial or ethnic propensity for this condition; however, it is important to understand that it may be more difficult to see in darker skin types (Fitzpatrick skin types IV-VI) and requires close attention on physical exam. The cause of MD is poorly understood but may be related to direct trauma, strenuous exercise, or hormone changes. We review a case of a 54-year-old woman who presented with an anterior chest wall palpable cord, better visualized with adequate lighting and skin traction, ultimately diagnosed as MD based on clinical findings and imaging studies. Mondor's disease often resolves spontaneously with supportive care, as in this patient's case; however, clinicians should be aware of this rare cause of breast pain and its association with hypercoagulable state, vasculitis, and breast cancer.

Pfizer/BioNTech (BNT162b2) is a messenger RNA (mRNA) vaccine that is highly effective in preventing the most severe outcomes of COVID-19 infection. Nucleoside-modified severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) mRNA vaccines induce effective stimulation of T follicular helper (TFH) cells, leading to a robust germinal center B cell response. Side effects from the BNT162b2 vaccination, including significant lymphadenopathy, have been reported previously. Here, we present a case of angioimmunoblastic lymphoma (AITL), a rare, peripheral T-cell lymphoma with RHOA-G17v-mutated gene developing in a patient following BNT162B2 vaccine with a plausible explanation. A 60-year-old Asian female received her first dose of Pfizer BNT162B2 mRNA vaccine in August 2021. Right after her vaccination, she developed right axillary lymphadenopathy. She received her second vaccine dose in September 2021. Thereafter, she developed lymph node (LN) enlargement in her neck and groin. She underwent left posterior cervical and left groin LN excisional biopsy in April 2022 due to persistent palpable lymphadenopathy. Biopsy results then demonstrated benign follicular hyperplasia. For progressive B symptoms, a right axillary LN biopsy was done, which demonstrated AITL, with molecular studies revealing mutation in TET-2, IDH-2, and RHOA-G17v genes. Progression of AITL following BNT162B2 mRNA vaccine is limited in literature. Our case demonstrates a plausible correlation between the diagnosis of AITL following mRNA vaccination due to the malignant transformation of the TFH cells in patients who have a predisposing mutation of RHOA-17v. Given the rarity of AITL and the heterogeneity of molecular findings, more studies are needed to establish such an association.

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.

Anti-tubular basement membrane (anti-TBM) antibody nephritis is a rare type of tubulointerstitial nephritis associated with progressive decline in kidney function. It is characterized histopathologically by tubular atrophy and dilation, interstitial fibrosis, lymphocyte and macrophage-predominant cellular infiltration, and linear deposition of IgG and complement along the tubular basement membrane. We herein present a case of a 69-year-old male who was recently diagnosed with chronic lymphocytic leukemia (CLL) and was referred for evaluation of kidney failure, ultimately diagnosed as anti-TBM antibody nephritis progressing into end-stage kidney disease (ESKD). This case report highlights the management challenges of anti-TBM antibody nephritis as a rare kidney disorder.

Systemic lupus erythematosus (SLE) is a complex autoimmune disease known for its diverse clinical presentations, and one severe complication is lupus nephritis (LN), which significantly contributes to morbidity and mortality. While LN often presents within the first 5 years of SLE diagnosis, renal vein thrombosis (RVT) is a rare vascular complication with a high risk of mortality and morbidity. This case report discusses the rare occurrence of RVT as the initial presentation of SLE in a 32-year-old Sudanese male patient, currently working in Palestine, presenting with flank pain, hematuria, fever, and lower limb edema. The case details the patient's symptoms, examination findings, and extensive laboratory and imaging workup leading to the diagnosis. This report highlights the rare association between RVT and SLE, emphasizing the importance of maintaining a high index of suspicion for SLE in patients with multisystem involvement, especially in males, where the diagnosis may be overlooked due to its lower prevalence. Early recognition can improve patient outcomes and reduce the risk of complications. Further research is needed to better understand the connection between RVT and SLE and to develop more effective treatment strategies.