The thrombosis of the superior mesenteric vein (SMV) can result in ischemia of the intestine. A 71-year-old male presented with pain in the abdomen and a black tarry stool. The findings from computed tomography (CT) with the contrast of the abdomen suggest the thrombosis of the SMV. Heparin was administered, followed by thrombectomy and stenting of the SMV. The patient reported no complications and was shifted from heparin to apixaban and then discharged after a five-day hospital stay.
This report describes a case involving the diagnosis and treatment of squamous cell carcinoma (SCC) of the duodenum, which was found to be a metastatic lesion originating from recurrent head and neck cancer (HNC) in a 74-year-old female patient. The patient had a past medical history of gastroesophageal reflux disease (GERD), tonsillar SCC, and recurrent HNC. She presented with symptoms of burning, tingling, and numbness of the throat and left side of the tongue. Upon examination with an esophagogastroduodenoscopy, an ulcerated hard area mass was detected in the third portion of the duodenum. Biopsy results confirmed the mass to be a metastatic poorly differentiated SCC. The incidence of head and neck squamous cell carcinoma (HNSCC) metastasis to the duodenum is rare, likely due to the unique anatomic location and the lack of lymphatic drainage in the area. The patient was treated with a combination of paclitaxel, carboplatin, and pembrolizumab. This case underscores the significance of considering unusual sites of metastasis in HNSCC patients and utilizing advanced imaging modalities and immunotherapy to detect and treat these locations effectively.
A cervicogenic headache (CH) originates from a cervical source. Multiple diagnostic criteria and treatment strategies for CH are present. Rimegepant is a calcitonin gene-related peptide receptor (CGRP) antagonist. We present a case series of three patients with CH who reported varying degrees of decreased headache intensity after using rimegepant.
Background: Brain arteriovenous malformations (BAVMs) are a tangle of abnormal vessels that directly shunt blood from the arterial to venous circulation and are a significant cause of intracranial hemorrhage (ICH). DNA methylation, an epigenetic mechanism, can regulate gene expression. Previous studies revealed significant correlations between BAVM development and DNA methylation levels of gene promoter regions in WTAP , METTL3 , NOS1AP , PLA2G7 , CDKN2A , CDKN2B , and PDGFD . Therefore, we investigated whether genetic variants in these candidate genes are associated with risk of ICH at clinical presentation in BAVM patients. Methods: A total of 383 single nucleotide polymorphisms (SNPs) were investigated using genome-wide data from 338 BAVM Caucasian patients, mapping within 20kb of the genes: WTAP (n=15), METTL3 (n=12), NOS1AP (n=190), PLA2G7 (n=15), CDKN2A / CDKN2B (n=22), and PDGFD (n=129). We used multivariable logistic regression analysis, adjusting for age, sex, and 3 principal components to adjust for population stratification. The Bonferroni method was used to correct for multiple comparisons (p=0.05/383 SNPs=0.00013). RegulomeDB scores were used to identify putative functional variants. Results: Two SNPs were associated with increased risk of ICH with BAVM at nominal p<0.05 but were not statistically significant: rs1263806 in METTL3 (OR=1.45, p=0.04) and rs1964052 in NOS1AP (OR=1.69, p=0.04). Ten SNPs were associated with decreased risk at nominal p<0.05: rs10757261, rs10757261, rs2811711, rs575427 in CDKN2A / CDKN2B ; rs528027, rs260866, rs260842, rs260850, rs7128670, and rs7113370 in PDGFD . No SNPs in WTAP and PLA2G7 were associated with ICH (p>0.05). One SNP, rs2811710 mapping to CDKN2A / CDKN2B (OR=0.6, p=0.02), is predicted to be functionally relevant as an expression quantitative trait loci (eQTL). Conclusions: Genetic variants in WTAP , METTL3 , NOS1AP , PLA2G7 , CDKN2A , CDKN2B , and PDGFD are not significantly associated with risk of ICH presentation in patients with BAVM.
The current study presents a case of right upper extremity ischemia secondary to cardioembolism in an elderly female with active and previously undiagnosed atrial fibrillation. The patient had no past medical history of any chronic cardiac disease or significant cardiac events. Computed tomographic angiography (CTA) was not performed due to her allergy to contrast material. A non-contrast computed tomography (CT) revealed mild atherosclerotic calcification of the right brachiocephalic artery; however, dissection or mural thrombus of the inflow vessels could not be ruled out. In evaluating a patient with acute ischemia of the upper limb, it is essential to obtain a complete history, including allergies, and be prepared to use alternative techniques for assessing arteries, if necessary. Routine cardiac function testing should also be prioritized in all elderly individuals, even those with no previous history of cardiovascular disease or symptoms.
Intraductal papillary mucinous neoplasms (IPMNs) are precursor lesions to pancreatic ductal adenocarcinoma (PDAC) that are challenging to manage due to limited imaging, cytologic, and molecular markers that accurately classify lesions, grade of dysplasia, or focus of invasion preoperatively. The objective of this pilot study was to determine the frequency and type of DNA mutations in a cohort of surgically resected, pathologically confirmed IPMN, and to determine if concordant mutations are detectable in paired pre-treatment plasma samples. Formalin-fixed paraffin embedded (FFPE) tissue from 46 surgically resected IPMNs (31 low -grade, 15high-grade) and paired plasma from a subset of fifteen IPMN cases (10 -low-grade, 5 high-grade) were subjected to targeted mutation analysis using a QIAseq Targeted DNA Custom Panel. Common driver mutations were detected in FFPE from 44 of 46 (95.6%) IPMN cases spanning all grades; the most common DNA mutations included: KRAS (80%), RNF43 (24%), and GNAS (43%). Of note, we observed a significant increase in the frequency of RNF43 mutations from low-grade to high-grade to high-grade IPMNs associated or concomitant with invasive carcinoma (trend test, p = 0.01). Among the subset of cases with paired plasma, driver mutations identified in the IPMNs were not detected in circulation. Overall, our results indicate that mutational burden for IPMNs are a common occurrence, even in low-grade IPMNs. Furthermore, although blood-based biopsies are an attractive, non-invasive method for detecting somatic DNA mutations, the QIAseq panel was not sensitive enough to detect driver mutations that existed in IPMN tissue using paired plasma in the volume we were able to retrieve for this retrospective study.
Zenker's diverticulum (ZD) is a type of esophageal diverticulum, a relatively rare disease in the pharyngoesophageal area. It is a pulsion diverticulum, or false diverticulum, located dorsally at the wall between the pharynx and esophagus. This area is known as Killian's triangle or dehiscence and is a region of relative weakness. Common symptoms of ZD include dysphagia, choking, persistent cough, loss of weight, hoarseness, halitosis, regurgitation of undigested food, and borborygmi within the cervical region. We are reporting a case of oropharyngeal dysphagia due to a ZD in a 65-year-old man with a history of worsening dysphagia for two years. Clinical presentation, diagnosis, and treatment options for ZD are discussed, along with the underlying pathophysiology of this condition.
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