Journal of medical cases最新文献

A substantial number of patients develop cognitive dysfunction after contracting severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), significantly contributing to long-coronavirus disease (COVID) morbidity. Despite the urgent and overwhelming clinical need, there are currently no proven interventions to treat post-COVID cognitive dysfunction (PCCD). Psychostimulants like methylphenidate may enhance both noradrenergic and dopaminergic pathways in mesolimbic and pre-frontal areas, thus improving memory and cognition. We present a case series of six patients who were treated at the Johns Hopkins Post-Acute COVID-19 Team (PACT) clinic for PCCD with methylphenidate 5 - 20 mg in the context of routine clinical care and followed for 4 to 8 weeks. Baseline and post-treatment outcomes included subjective cognitive dysfunction and objective performance on a battery devised to measure cognitive dysfunction in long-COVID patients. Three out of the six patients reported subjective improvement with methylphenidate, one patient described it as "notable" and another as "marked" improvement in memory and concentration. We also found significant pre-treatment subjective complaints of cognitive dysfunction; however, formal cognitive assessment scores were not severely impaired. A statistically significant difference in pre and post scores, favoring intervention, was found for the following cognitive assessments: Hopkins verbal learning test (HVLT) immediate recall, HVLT delayed recall and category-cued verbal fluency. The current series demonstrates promising neurocognitive effects of methylphenidate for long-COVID cognitive impairment, particularly in recall and verbal fluency domains.

Transient global amnesia (TGA) is a benign and transient condition with a sudden short-term amnesia. One of the conditions resembling TGA is hippocampal infarction, which requires relapse prevention treatments. In this report, we present a case with bilateral hippocampal infarction in whom distinguishing these two conditions was difficult for up to 1 week from the onset. A 60-year-old female visited our hospital with sudden onset retrograde and anterograde amnesia. Thin-slice magnetic resonance imaging (MRI) with 2-mm thickness revealed hyperintense signals on diffusion-weighted imaging (DWI) with signal loss on apparent diffusion coefficient (ADC) on both sides of the hippocampus. MRI with 5-mm thickness on day 7 revealed persistent restricted diffusion on both sides, one of which was still with decreased ADC values. Based on this finding, the diagnosis of bilateral hippocampal infarction was reached, and the relapse-preventive antiplatelet was continued. This case implied the potential difficulty of distinguishing cases with TGA and those with hippocampal infarction based on MRI findings within the first several days after onset. Thin-slice brain MRI, careful search of potential cardiovascular risks, and follow-up MRI ≥ 7 days after onset will be helpful to reach a correct diagnosis in cases with sudden amnesia.

Various driver mutations and the corresponding molecular-targeted drugs have been detected and developed in non-small cell lung cancer. There were many cases in which surgical specimens had happened to find double primary cancers. However, to our knowledge, our case was the first report of synchronous double primary lung adenocarcinomas harboring epidermal growth factor receptor (EGFR) L858R and mesenchymal-to-epithelial transition (MET) exon 14 skipping mutations. A 75-year-old Japanese woman with chronic heart and renal failures was referred to our department because of a growing nodule in the right upper lung field on chest X-ray films. Chest computed tomography (CT) detected a nodule in the right S₁ and another nodule in the left S₁₊₂. Bronchoscopic biopsy diagnosed the right S₁ nodule as moderately differentiated adenocarcinoma. Oncomine Dx Target Test Multi-CDx system of the right S₁ adenocarcinoma detected EGFR L858R mutation. The 18^F-fluorodeoxyglucose positron emission tomography/CT showed abnormal uptakes both in the right S₁ and the left S₁₊₂ nodules, and in the bilateral inferior paratracheal lymph nodes. We made a diagnosis of c-stage IIIA (cT_1bN₂M₀) of adenocarcinoma in the right S₁ and suspected another primary lung cancer in the left S₁₊₂. Considering her general conditions, comorbidities and wishes, we started osimertinib. The right S₁ cancer achieved partial response (PR), while the left S₁₊₂ nodule and lymph nodes enlarged. Aspiration cytology from the left supraclavicular lymph node showed adenocarcinoma. The FoundationOne^® Liquid CDx tumor profiling test detected not only EGFR L858R, but also MET exon 14 skipping mutation. We made a diagnosis of another primary adenocarcinoma from the left S₁₊₂ nodule (cT_1bN₃M₀, c-stage IIIB) with MET mutation, and changed osimertinib to capmatinib. Although the left S₁₊₂ cancer achieved and maintained PR by capmatinib, the right S₁ cancer increased, and several new metastases appeared. The subsequent switch from capmatinib to osimertinib could not control cancers. In this case, we tried to switch monotherapies from osimertinib to capmatinib for double primary adenocarcinomas harboring different two driver mutations, according to each cancer progression. The temporal and spatial heterogeneity reinforces the need for primary tissue biopsy if dual primaries are suspected. Temporally distinct liquid biopsies, not standard at present, may be considered.

Two patients aged 82 and 77, with a fractured neck of the femur, were found to have primary hyperparathyroidism, characterized by hypercalcemia and hypercalciuria. Post-surgery, both developed pulmonary embolism (PE), highlighting a possible link between hypercalcemia and increased hypercoagulation risk. There have been few case reports suggesting the association between hypercalcemia due to hyperparathyroidism and the increase in tendency of hypercoagulation and subsequent risk of venous thromboembolism (VTE). This case series offers insights into how ionized calcium influences thrombin formation, platelet activation and aggregation, and activation of clotting factors such as factor VII and factor X, raising questions about the role of chronic hypercalcemia in VTE. Further research is needed to 1) establish whether chronic hypercalcemia in the absence of fracture can modulate the risk of hypercoagulation; 2) determine whether chronic hypercalcemia in individuals with bone fracture may represent a significantly higher hypercoagulability risk during the postoperative periods.

Cardiovascular diseases (CVDs) are the leading cause of death worldwide across diverse ethnic groups. Among these, atrial fibrillation (AF) stands as one of the most prevalent types of arrhythmias and the primary cause of stroke. Risk factors associated with AF include alcohol consumption, aging, high blood pressure, hypertension, inflammation, and genetic factors. A family history of CVD could indicate an increased risk. Consequently, genetic, and genomic testing should be performed to identify the molecular etiology of CVDs and assess at-risk patients. It is important to note that CVDs are the results of the complex interplay of genes and environmental factors, including ethnicity. In this case, the proband's clinic story includes a history of smoking abuse for 10 years (10 cigarettes per day), obesity, hypertension, and an associated familial history. These risk factors, along with genetic variants, could trigger the early onset of AF. In recent years, genetic and genomic studies have significantly advanced our understanding of CVD etiology, given that next-generation sequencing (NGS) allows for the identification of genetic variants that could contribute to these pathologies. Furthermore, NGS facilitates early diagnosis, personalized pharmacological approaches, and identification of novel biomarkers. Thus, NGS is a valuable tool in CVD management. However, such studies are limited in Ecuador, a low- and middle-income country. Several challenges contribute to this gap, encompassing economic, infrastructural, and educational obstacles. Notably, the cost of genetic and genomic studies may also pose a barrier, restricting access to a portion of the population. In this case report, we present a 56-year-old Ecuadorian woman, who has been diagnosed with AF; however, after performing NGS no disease-associated variants were found, despite having strong clinical signs and symptoms. In summary, this case report contributes valuable insights into the complex interplay between genetic and lifestyle factors in the development and management of AF. The case report aims to underscore the potential impact of genetic variants on disease risk, even when classified as variants of uncertain significance, and the importance of an integral approach to patient care that includes genetic screening, lifestyle interventions, and tailored pharmacological treatment.

This case underscores the importance of treating neurological deficits of an acute stroke presentation despite initial negative diffusion-weighted imaging (DWI), especially in the acute phase when there is high clinical suspicion of stroke. Additionally, it highlights the appropriate use of a WAKE-UP protocol for patients that present with stroke symptoms without a well-defined inception time. A 71-year-old female presented to the emergency department with symptoms of dizziness and double vision upon wake-up. While clinical exam findings revealed left intranuclear ophthalmoplegia (INO) and inability to ambulate due to gait ataxia, magnetic resonance imaging (MRI) was negative for acute stroke. Despite negative DWI MRI, this patient's clinical exam findings of a left INO and gait ataxia were indicative of an ischemic stroke localizing to the medial longitudinal fasciculus (MLF), and the patient received thrombolytics. Repeat MRI about 48 h later revealed an acute infarct in the left midbrain with a DWI lesion in the MLF.

Aspirin hypersensitivity continues to be a major clinical challenge in patients with coronary artery disease (CAD), particularly in those requiring percutaneous coronary intervention (PCI) in the absence of a validated alternative antiplatelet regimen. Although true aspirin allergies are uncommon, they can manifest with severe reactions such as angioedema or anaphylaxis, highlighting the critical role of diagnostic challenge tests and tolerance induction strategies. Here, a 61-year-old female with end-stage renal disease (ESRD) on hemodialysis presented with new-onset heart failure and elevated troponins in the setting of a hypertensive emergency. A subsequent left heart catheterization revealed severe multivessel disease, but PCI was deferred due to her history suggestive of aspirin-induced angioedema and the absence of a known optimal approach in this scenario. Given the feasibility of completing a desensitization protocol, aspirin desensitization was pursued, facilitating the successful placement of a drug-eluting stent. This case highlights the need for validated protocols to manage aspirin hypersensitivity, as the current treatment paradigm necessitates a highly individualized approach by the treating clinician.

Ischemic monomelic neuropathy (IMN) is a rare complication of arteriovenous fistulas (AVFs) and arteriovenous grafts (AVGs). Diagnosis of the condition is often delayed, with debilitating outcomes for patients. We present two cases of IMN in which prompt identification and intervention prevented major disability. The first case involved an 84-year-old female who underwent a left upper extremity brachioaxillary AVG. The procedure was performed under local anesthesia and a 4 - 7 mm tapered PTFE Propaten graft was used. At the conclusion of the case, a palpable radial artery pulse was noted. In the post-anesthesia care unit (PACU), the patient had ipsilateral increasing arm and hand pain. On exam, the patient had a cool left hand with a 2+ radial pulse. The patient was taken back to the operating room and the AVG was ligated with repair of the brachial artery. The second case involved a 64-year-old male who underwent a single-staged right brachiobasilic AVF with transposition. Surgery was performed with local and regional block. At case completion, the patient was noted to have a palpable radial pulse. In the PACU, patient had increased pain and paralysis to the right hand. Patient's right hand had complete paralysis of the fingers and reported severe forearm pain. Within 10 min of fistula ligation under local anesthesia, his symptoms resolved. We present two cases involving different arteriovenous access conduits. The time from procedure completion to reported onset of symptoms was approximately 260 min, and time from symptoms onset to surgical incision was 70 min. Early recognition, diagnosis, and management of IMN in these cases protected patients from major long-term morbidity. Owing to this pathology, post-op observation protocols and even re-admission protocols should be set after hemodialysis access creation in order to avoid delays in diagnosis and patient disability.

Renal cell carcinoma (RCC) is notorious for spreading to various organs, however, its occurrence in the gastrointestinal (GI) tract is uncommon and poses diagnostic challenges due to vague symptoms. Here, we present the case of a 64-year-old man experiencing recurrent RCC metastasis in the GI tract. He presented with multiple episodes of hematochezia and was found to have masses in the colon, liver, and peritoneum, with histopathology confirming RCC. The patient underwent systemic chemotherapy and palliative radiation therapy, leading to symptom relief. This case emphasizes the rarity of RCC metastasizing to the GI tract and the importance of timely recognition and frequent surveillance during the remission phase to detect recurrence.

Brugada syndrome (BrS) is characterized by ST segment elevations in the right precordial leads, V1 - V3, with additional findings of ventricular arrhythmias and family history (FH) of sudden cardiac death (SCD) at a young age. Here, we describe a case of hyperthermia, unveiling the Brugada electrocardiography (EKG) pattern and the resolution of EKG findings with appropriate hyperthermia management. It is important to distinguish the Brugada EKG pattern from other causes of ST elevations and treat appropriately to prevent patients from developing ventricular fibrillation and SCD. It is key to identify environmental triggers in patients presenting with Brugada EKG pattern and closely monitor for ventricular fibrillation. Educating patients on prompt fever treatment with antipyretics and avoiding medications like sodium channel blockers during the febrile event is paramount to counter patients going into ventricular fibrillation. It is also crucial for close follow-up of these patients, offering them genetic testing for BrS and screening families of patients with BrS.