RESUMEN
Alkaptonuria is a rare genetic disorder characterized by the excessive production of homogentisic acid, leading to the formation and deposition of pigment polymers throughout the body. It is extremely rare, affecting only around one in 100,000 individuals. Despite the normal life expectancy, it can cause severe morbidities. Alkaptonuria is typically managed supportively with pain medication, dietary modifications, and surgical interventions, which are considered to be the gold standard of therapy. Here we present a case of a 33-year-old male with no previous medical or surgical history who presented with severe acute back pain radiating to the left leg. Genetic testing confirmed a homozygous pathogenic variant for alkaptonuria. This case highlights the challenges in diagnosing alkaptonuria, emphasizing the significance of early detection, and clinical evaluation for improved outcomes. Furthermore, it underscores the need to consider alkaptonuria as a multidimensional disease, necessitating further research to enhance our understanding and develop effective management. Therefore, this study serves as an opportunity for future trials and studies aimed at digging deeper into the intricacies of alkaptonuria to increase our understanding and establish comprehensive management plans for affected individuals.
RESUMEN
Gastrointestinal stromal tumors (GISTs) are rare tumors accounting for 0.1-3% of gastrointestinal (GI) neoplasms. In the past, GIST was classified as leiomyomas, leiomyosarcomas, and leiomyoblastomas. However, now it is evident that GIST is a separate tumor entity, and it is the most frequent sarcoma of the GI tract. We report a case of a 57-year-old female with a five-day history of black tarry stools, two episodes of vomiting of dark-colored blood, dizziness, abdominal pain, night sweats, and palpitation, provoked by a change of position. After a computerized tomography (CT) of the abdomen and pelvis, a GIST was suspected, which was confirmed with histopathology. Acute upper GI bleeding is a rare presentation of GIST. Clear guidelines should be developed for GIST. An early diagnosis is crucial for a better prognosis.
RESUMEN
Takotsubo cardiomyopathy (TTC) or stress-induced cardiomyopathy is characterized by transient left ventricular apical ballooning in the absence of coronary occlusion. Although the underlying mechanism is still unknown, exaggerated sympathetic nervous system and catecholamine cardiotoxicity, followed by metabolic disturbance, and multi-vessel epicardial coronary artery vasospasm, are thought to be responsible for the development of this condition. TTC accounts for 1-2% of patients presenting with the acute coronary syndrome (ACS) with the majority of patients being postmenopausal women. Shark fin electrocardiogram (SFE) or triangular ST-segment elevation is an uncommon electrocardiogram (ECG) finding that is typically associated with an increased risk of ventricular fibrillation and cardiogenic shock, thus, it is considered a poor prognostic factor. We present a case of a 57-year-old postmenopausal female with TTC post-colonic perforation. Upon further investigation, an ECG revealed an SFE or triangular ST-segment elevation on the anterolateral leads, and an elevated serum troponin level was found. On trans-thoracic echocardiogram (TTE), hypokinesis and akinesis of the apex and left ventricular segments were observed with sparing of the basal segments. Eventually, the patient was successfully managed and monitored until regain of normal function.
RESUMEN
This study aimed to evaluate the prevalence and the association between hypertension (HTN) and atrial fibrillation (AF) in hemodialysis (HD) patients. A chart review-based, cross-sectional study was conducted on HD patients who had received HD for at least 6 months. Demographic, hemodynamic, and laboratory data were retrieved from the BestCare system, and the main outcomes were blood pressure before and after dialysis, and the presence of AF. Our sample consisted of 304 HD patients; 162 (53%) were male, and the mean age was 63 ± 18 years. Sixty-eight (20%) had AF, of whom 44 (64.7%) were male, with a mean age of 73 ± 12 years. The risk of AF increased by 0.4 [odds ratio: 1.04; 95% confidence interval (CI): 1.02-1.06; P <0.001] for every year of age. Almost the entire sample (66.45%, n = 202) was hypertensive, and those patients had a mean age of 64 ± 17 years, and nearly one-third had a body mass index in the obese category (28.7%, n = 58). In addition, with every increase in the Charlson comorbidity index score by two points, there was a 40% increased risk of developing HTN (OR: 2.47; 95% CI: 1.17-5.18; P = 0.017). The risk factors for the development of HTN and AF in HD patients were found to be increasing age for AF and female sex for HTN. The presence of HTN and diabetes increased the risk of developing AF seven-fold after HD.