Gastroduodenal artery aneurysm - an extremely rare but insidious cause of abdominal pain: a case report.

An arterial aneurysm is a localized weakening of the artery wall that results in pathological dilatation. All intra-abdominal artery aneurysms are labeled as visceral artery aneurysms (VAA), apart from the aorto-iliac artery aneurysms. VAA´s are rare, gastroduodenal artery aneurysms (GDAA), constituting 1.5% of visceral artery aneurysms. A woman in her early 80s´ presented with chronic epigastric pain, weight loss, and nausea. Conservative management was unsuccessful. Imaging revealed a GDAA, prompting endovascular coil embolization. Subsequent evaluation confirmed Polyarteritis Nodosa (PAN), treated with rituximab. The report underscores the diagnostic challenges, emphasizing the need for a multidisciplinary approach using imaging and angiography. GDAA's potential life-threatening rupture necessitates prompt intervention, as illustrated in this case. The rare association with PAN, although infrequent, underscores the importance of considering underlying etiologies in multiple visceral aneurysms. Early diagnosis and intervention are pivotal for this uncommon yet potentially lethal condition.

The Use of CRISPR-Cas9 Genetic Technology in Cardiovascular Disease: A Comprehensive Review of Current Progress and Future Prospective.

Over the last century, there have been major landmark developments in the field of medicine, enabling us to control and cure various diseases on a larger scale. A few of these include the discovery of antibiotics, the development of vaccines, and the origin of organ and tissue transplants. The continued quest for innovation in microbiology and medicine has helped humankind save millions of lives and decrease morbidity at the global level. Genetic medicine has grown significantly in the last two decades and appears to be the next frontier of curative therapies for chronic diseases. One important landmark in genetic medicine is the development of CRISPR (clustered, regularly interspaced short palindromic repeats) technology. In this article, we describe the basic structure and function of the CRISPR-Cas9 system, which, simply put, consists of an RNA part and a protein. It works as a molecular scissor that can perform targeted cuts followed by repairs in and around the genes of interest to attain favorable translational outcomes. We focused on summarizing recent studies using CRISPR-Cas9 technology in diagnosing and treating cardiovascular disease. These studies are primarily experimental and limited to animal models. However, their results are promising enough to anticipate that this technology will undoubtedly be available in clinical medicine in the coming years. CRISPR-Cas9-mediated gene editing has been used to study and potentially treat congenital heart disease, hyperlipidemias, arrhythmogenic cardiomyopathies, and the prevention of ischemia-reperfusion injury. Despite the current progress, we recognize the several challenges this technology faces, including funding for research, improving precision and reproducible results for human subjects, and establishing protocols for ethical compliance so that it is acceptable to the scientific community and the general public.

Subungual melanoma with cartilaginous differentiation: Molecular insights.

Melanoma's rare capacity to undergo heterologous differentiation can create significant diagnostic challenges. The molecular mechanisms underlying this phenomenon are not well understood. We present an unusual case of subungual melanoma exhibiting extensive cartilaginous differentiation and provide insights into its molecular and cytogenomic features. Histopathologically, the tumor was predominantly composed of nodules of malignant cartilage in association with a smaller population of nested epithelioid to rhabdoid cells. Immunohistochemically, the tumor cells in both components were positive for S100, SOX10, and PRAME, and were negative for Melan-A and HMB-45. Molecular analysis by whole exome DNA sequence did not detect any pathogenic variants in genes commonly implicated in melanoma. Additional analysis by SNP chromosomal microarray revealed a complex genome characterized by numerous chromosomal losses and gains, including a homozygous deletion of the CDKN2A locus and a heterozygous deletion of the locus containing EXT2, a tumor suppressor implicated in hereditary multiple osteochondromas and secondary chondrosarcomas. This case underscores the importance of recognizing cartilaginous differentiation as a rare manifestation of melanoma, particularly at subungual sites, and suggests that at least some of these melanomas may be driven by non-canonical molecular pathways.

Atypical Spindle Cell/Pleomorphic Lipomatous Tumor With Sarcomatous Transformation: Clinicopathologic and Molecular Analysis of 4 Cases.

Atypical spindle cell/pleomorphic lipomatous tumor (ASPLT) is a recently described adipocytic tumor predominantly affecting the subcutaneous soft tissues of adults. Previous studies have shown that ASPLT follows a benign clinical course with a 4% to 12% local recurrence rate and no risk of dedifferentiation. Herein, we describe the clinicopathologic and molecular findings of 4 cases of ASPLT showing unequivocal sarcomatous transformation. Three patients were male and one was female, aged 65, 70, 74, and 78 years. Two cases presented as mass-forming lesions, while 1 case was incidentally discovered. The tumors measured 30, 55, 80, and 110 mm and occurred in the chest wall (n = 2) or arm (n = 2); all were subcutaneous. Microscopically, they showed a biphasic appearance comprising a low-grade ASPLT component and a high-grade sarcomatous component. The low-grade components showed features in the spectrum of either atypical pleomorphic lipomatous tumor (n = 2) or atypical spindle cell lipomatous tumor (n = 2). The high-grade components displayed leiomyosarcoma-like (n = 2), pleomorphic liposarcoma-like (n = 1) or undifferentiated sarcoma-like (n = 1) morphology. On immunohistochemistry, tumors were negative for MDM2 and showed loss of RB1 expression. In addition, the leiomyosarcoma-like areas seen in 2 cases were positive for smooth muscle actin and H-caldesmon. Single-nucleotide polymorphism array, performed in 3 cases, showed deletions of TP53, RB1, and flanking genes in both components. In contrast, the sarcomatous components showed more complex genomic profiles with rare segmental gains and recurrent loss of PTEN (n = 3), ATM (n = 2), and CDKN2A/B (n = 2) among other genes. Whole exome sequencing identified a TP53 variant in one case and an ATRX variant in another, each occurring in both tumor components. Limited clinical follow-up showed no recurrence or metastasis after 1 to 13 months (median, 7.5 months) postsurgical excision. Altogether, our data support that ASPLT can rarely develop sarcomatous transformation and offer insights into the molecular mechanisms underlying this event.

Protein-polysaccharide based double network microbeads improves stability of Bifidobacterium infantis ATCC 15697 in a gastro-Intestinal tract model (TIM-1).

Microencapsulation of probiotics is a main technique employed to improve cell survival in gastrointestinal tract (GIT). The present study investigated the impact of utilizing proteins i.e. Whey Protein Isolates (WPI), Pea Protein Isolates (PPI) or (WPI + PPI) complex based microbeads as encapsulating agents on the encapsulation efficiency (EE), diameter, morphology along with the survival and viability of Bifidobacterium infantis ATCC 15697. Results revealed that WPI + PPI combination had the highest EE% of the probiotics up to 94.09 % and the smoothest surface with less visible holes. WPI based beads revealed lower EE% and smaller size than PPI based ones. In addition, WPI based beads showed rough surface with visible signs of cracks, while PPI beads showed dense surfaces with pores and depressions. In contrast, the combination of the two proteins resulted in compact and smooth beads with less visible pores/wrinkles. The survival in gastrointestinal tract (GIT) was observed through TNO in-vitro gastrointestinal model (TIM-1) and results illustrated that all microbeads shrank in gastric phase while swelled in intestinal phase. In addition, in-vitro survival rate of free cells was very low in gastric phase (18.2 %) and intestinal phase (27.5 %). The free cells lost their viability after 28 days of storage (2.66 CFU/mL) with a maximum log reduction of 6.76, while all the encapsulated probiotic showed more than 106-7 log CFU/g viable cell. It was concluded that encapsulation improved the viability of probiotics in GIT and utilization of WPI + PPI in combination provided better protection to probiotics.

Reversible Cerebral Vasoconstriction Syndrome Associated With Oxybutynin Use; a Brief Review of Pathophysiology.

Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by reversible vasospasm of the central nervous system vasculature. It usually presents as a classic thunderclap headache, but complications like a stroke, seizure, or intracranial hemorrhage may occur at the onset. Most cases are linked temporally to secondary agents. The most common suggested mechanism underlying the RCVS is vascular tone dysregulation. Our report describes the RCVS incidence associated with oxybutynin use in a young female. We aim to describe the potential pathophysiology linking oxybutynin use and RCVS.

Arrhythmogenic Left Ventricular Cardiomyopathy Associated With a Phospholamban Gene Mutation in a Young Female: A Case Report and Literature Review.

Arrhythmogenic cardiomyopathy (ACM) is a myocardium disease characterized by phenotypic features of myocardial scarring due to fibrofatty myocardial replacement often associated with global or regional ventricular dysfunction. For years after arrhythmogenic right ventricular cardiomyopathy (ARVC) was first described, the left ventricle (LV) was generally considered normal or minimally involved. In recent years, however, LV involvement has been recognized. It usually presents with early-on arrhythmias more than heart failure symptoms compared to dilated cardiomyopathy. It can be right ventricular, biventricular, or left ventricular. The underlying pathophysiology involves either desmosomal or non-desmosomal mutations. Phospholamban (PLN) mutation is one of those and is associated with more severe arrhythmias and SCD. Primary prevention with ICD implantation should be considered in these patients, even the ones with an ejection fraction greater than 35%. In addition, if such patients progress to Stage D heart failure, they need to be evaluated for advanced heart failure therapies.

Pembrolizumab-Induced Broken Heart Syndrome, Pneumonitis, and Hypophysitis Occurring Concurrently; A Deadly Triad.

Immune checkpoint inhibitors are novel medications used to treat a wide range of solid organ tumors and work by stimulating the cellular immune response. With their increasing use, more and more multiorgan side effects are reported in the literature. Prompt recognition of these findings is vital for the safe clinical use of these agents. Most side effects are immune-mediated injury, and the treatment involves stopping the ICI drug and systemic steroids. We report a case of a 72-year-old female treated with pembrolizumab monotherapy for non-small cell lung cancer. She presented for dyspnea and generalized weakness after the second session of pembrolizumab. She was found to have a triad of Takotsubo cardiomyopathy, hypophysitis, and pneumonitis. The patient was discharged home on steroids and heart failure treatment with the discontinuation of further sessions of pembrolizumab.

Heart Failure Associated With Mycoplasma Pneumoniae Infection, A Case and Review of Literature.

Mycoplasma pneumoniae is well known to cause pulmonary infection. However, it often has extrapulmonary manifestations as well. We diagnosed and treated a 41-year-old female who presented with symptoms of pneumonia along with multisystem involvement, including rash, acute hepatitis, and new onset heart failure that improved with steroids and doxycycline. Subsequent guideline-directed medical therapy for non-ischemic cardiomyopathy (NICM) coincided with the complete recovery of the left ventricular function in three months. We also did a brief literature review with similar prior reported cases.

Pakistan's Healthcare System: A Review of Major Challenges and the First Comprehensive Universal Health Coverage Initiative.

Each country's healthcare system has a different structure and functioning designed to meet the needs of its people utilizing the available resources. Due to ever-growing population needs and constantly emerging public health problems, it is vital for any healthcare system to be ready to adapt, recognize its limitations, and improve its flaws by learning from other healthcare models across the globe. In this article, we analyzed the significant challenges faced by Pakistan's healthcare system (PHS) and the first comprehensive initiative taken for universal health coverage in Pakistan. Inequitable distribution of resources, inadequate healthcare spending, non-adherence to preventative healthcare and brain drain are the major problems in the PHS. On the other hand, the recently introduced universal health coverage initiative, the Sehat Sahulat Program (SSP), can be considered one of the biggest achievements of the country's healthcare system.

Cocaine Use Presenting as Concomitant Myocardial Infraction and Transient Ischemic Attack - A Case Report.

Cocaine abuse with its complications is a common problem that presents often in the emergency room. Complications of cocaine use can involve multiple systems. These complications can arise within each system simultaneously or at different times. We treated a patient who presented with symptoms of cerebrovascular accident and was found to have concomitant non-ST segment elevation myocardial infarction (NSTEMI). A 54-year-old male with medical history significant for hypertension and prior MI presented to emergency department with left leg and arm numbness first noticed when he woke up in the morning of presentation. He admitted using cocaine the night prior to presentation. Neurological exam was remarkable for decreased sensation to left extremities. His National Institute of Health Stroke Scale (NHISS) score was 1. Blood work was significant for an elevated troponin I of 1.74 ng/ml, and an elevated Creatinine of 2.34 mg/dl. CT head and MRI brain were negative for acute intracranial hemorrhage or radiological evidence of stroke. He was treated with aspirin, clopidogrel, statin and therapeutic enoxaparin for NSTEMI. His symptoms of left sided numbness resolved over the course of his stay. This case underscores why cocaine abuse should always be considered in the differential for patients presenting with symptoms suggestive of acute coronary syndrome or stroke, especially in young and middle-aged males.

A novel opportunity to improve heart failure care: focusing on subcutaneous furosemide.

The prevalence of heart failure (HF) continues to rise in developed nations. Symptomatic congestion is the most common reason for patients to seek medical attention, and management often requires intravenous (IV) diuretic administration in the hospital setting. Typically, the number of admissions increases as the disease progresses, not only impacting patient survival and quality of life but also driving up healthcare expenditures. pH-neutral furosemide delivered subcutaneously using a proprietary, single-use infusor system (Furoscix) has a tremendous potential to transition in-hospital decongestive therapy to the outpatient setting or to the patient's home. This review is aimed at providing an overview of the pharmacodynamic and pharmacokinetic profile of the novel pH-neutral furosemide in addition to the most recent clinical trials demonstrating its benefit when used in the home setting. Given the newest data and approval by the Food and Drug Administration in the US, it has the potential to revolutionize the care of patients with decompensated HF. Undoubtedly, it will lead to improved quality of life as well as significantly reduced healthcare costs related to hospital admissions.

Angioedema in the Absence of C1 Esterase Inhibitor Deficiency in a Young Patient With Anti-dsDNA Negative Lupus Nephritis.

Hereditary angioedema (HAE) is an autosomal dominant condition marked by a lack of functioning C1 esterase inhibitor (C1-INH). In contrast, acquired angioedema (AAE) due to a deficiency of C1 esterase inhibitor (AAE-C1-INH) may be the manifestation of an underlying lymphoproliferative, neoplastic, or autoimmune condition. Both are potentially fatal. The C1q protein is normal in HAE but low in AAE. A third mechanism has been reported to cause angioedema, especially in systemic lupus erythematosus (SLE) patients. AAE, which happens in association with SLE, may respond well to steroids. Here we present a case of AAE in a young female with SLE that led to upper airway compromise, requiring endotracheal intubation. Early detection and treatment of such cases can lead to an outstanding prognosis by preventing airway compromise and anoxic brain injury. Even though it is a condition of either very young or middle-aged patients, practitioners must be aware of this uncommon disease linked with SLE in adolescents and young adults.

Panhypopituitarism and Central Hypothyroidism Presenting as Myoclonus and Hyperreflexia.

Panhypopituitarism may present with symptoms of predominantly one or more hormonal deficiencies. Central hypothyroidism usually presents with typical symptoms of hypothyroidism, such as fatigue, weight gain, menstrual abnormalities, bradycardia, thick, coarse skin, muscle fasciculations, and hyporeflexia, among others. Herein we present a case of central hypothyroidism along with panhypopituitarism presenting with unusual symptoms of tongue fasciculation, hyperreflexia, and myoclonic jerks.

Management and Follow-Up of Biventricular Thrombi.

A thrombus is the most common intracardiac lesion. Isolated thrombi usually occur in the setting of ventricular dysfunction, such as a dyskinetic or hypokinetic myocardial wall, following an acute myocardial infarction (MI) or in cardiomyopathies (CM). Concurrent biventricular thrombus formation is rare. There are no clear guidelines for the treatment of biventricular thrombus. In this report, we describe our experience of the successful treatment of a case of biventricular thrombus with warfarin and rivaroxaban.

Substance Use-Associated Mortality among Heart Donors after the COVID-19 National Emergency Increased but Did Not Affect Peri-Transplant Outcomes.

INTRODUCTION: The COVID-19 pandemic and consequent social isolation prompted a surge in mental health disorders and substance use in the general population and, therefore, in potential organ donors. We aimed to evaluate if this led to a change in donor characteristics, including the mechanism and circumstance of death, and how this may have affected clinical outcomes following heart transplantation. METHODS: We identified all heart donors from the SRTR database between 18 October 2018 and 31 December 2021, excluding those who donated immediately after the US national emergency declaration. Donors were stratified into pre-COVID-19 (Pre-Cov; through 12 March 2020) and post-COVID-19 national emergency declaration cohorts (Post-Cov; 1 August 2020 through 31 December 2021) based on the heart procurement date. Relevant demographics, cause of death, and substance use history were collected in addition to graft cold ischemic time, the incidence of primary graft dysfunction (PGD), and recipient survival at 30 days post-transplant. RESULTS: A total of 10,314 heart donors were identified; 4941 were stratified into the Pre-Cov and 5373 into the Post-Cov cohorts. There was no difference in demographics, but illicit drug use was significantly higher in the Post-Cov group, leading to an increased incidence of death from drug intoxication. Fatal gunshot wounds were also more common. Despite these changes, the incidence of PGD remained similar (p = 0.371), and there was no difference in 30 days recipient survival (p = 0.545). CONCLUSION: Our findings confirm that COVID-19 had a major impact on mental health and psychosocial life with an associated increase in illicit substance use and fatal intoxication rates in heart transplant donors. These changes did not alter peri-operative mortality following heart transplantation. Future studies are needed to ensure that long-term outcomes remain unaffected.

ST-Elevation Myocardial Infarction Precipitated by Disseminated Intravascular Coagulation: A Therapeutic Challenge.

Acute coronary syndrome (ACS) can manifest as ST-elevation myocardial infarction (STEMI), non-ST-elevation myocardial infarction (NSTEMI), and unstable angina (UA). Common etiologies for STEMI include atherosclerotic plaque disruption or erosion manifesting as type 1 myocardial ischemia (MI). Causes of type 2 MI presenting as STEMI may include spontaneous coronary artery dissection, coronary artery spasm, and coronary embolism. STEMI is an emergency mandating immediate coronary intervention. We present a case of STEMI as a complication of disseminated intravascular coagulation (DIC). This case highlights the unique challenge of managing STEMI with active DIC.

Diagnostic and Therapeutic Challenges Associated With Left Ventricular Tumors.

Cardiac tumors are uncommon. Sometimes it is challenging to differentiate non-invasively between different kinds of cardiac tumors and thrombi, which is critical to dictate the subsequent treatment. In addition, not all high-risk cardiac tumors are amenable to surgical resection posing a therapeutic challenge. We report a case of cardiac papillary fibroelastoma in the left ventricular cavity with a 10-year follow-up, with no embolic complications.

Thyroid Cancer Presenting as Aspiration Pneumonia: A Tale of Retrosternal Goiters.

Abnormal enlargement of the thyroid gland is called goiter. Structurally, it can be nodular or diffuse. Usually, it presents as an anterior cervical mass; however, less commonly, it presents as a retrosternal mass causing symptoms of compression on the surrounding structures. Most patients with goiter are asymptomatic due to the euthyroid nature of the disease. However, sometimes they can be hypo or hyperthyroid depending on the etiology of the goiter. Here, we present the case of a patient without any previously known goiter who presented to the hospital with shortness of breath and was found to have hypoxic respiratory failure as his first noticed sign of thyroid disease. Diagnostic workup revealed retrosternal goiter causing compression effect on the esophagus and trachea resulting in dysphagia and aspiration. The patient was treated with feeding tube placement, followed by surgical resection of the mediastinal mass.