Thrombocytopenia with absent radii (TAR) syndrome is a rare genetic syndrome that occurs with a frequency of about 0.42 cases per 100,000 live births. It is characterized by hypomegakaryocytic thrombocytopenia with bilateral absent radii and the presence of both thumbs. The thrombocytopenia is initially very severe, manifesting in the first few weeks to months of life, but subsequently improves with time to reach near normal values by one to two years of age. We present a case of a newborn with TAR syndrome with an atypical presentation of mild thrombocytopenia in the first week of life, with early normalization of platelet counts in the neonatal period. The patient deviates from the normal pattern in which 95% of patients with TAR syndrome usually develop significant thrombocytopenia (platelet counts of less than 50 x 10 9 platelets/L) within the first four months of life. Additionally, the absence of hypomegakaryocytes on peripheral smear sets this patient apart from the typical cases of TAR syndrome. TAR syndrome is often associated with significant morbidity and mortality secondary to severe thrombocytopenia, which occurs with the highest frequency in the first 14 months of life. The most common cause of mortality is due to a severe hemorrhagic event occurring in the brain, gastrointestinal tract, and other organs. Therefore, all patients with TAR syndrome should be monitored closely for symptomatic thrombocytopenia with platelet transfusions being implemented as the first-line therapy for the treatment of severe or symptomatic disease.
This report describes the case of a 63-year-old female with a metastatic neuroendocrine tumor (NET). Imaging studies revealed a primary hepatic NET (PHNET) originating in the porta hepatis and associated with extensive hepatic metastasis. This represents an extremely rare presentation of PHNET associated with ectopic adrenocorticotropic hormone (ACTH) production and hypercortisolism. As such, it is a unique presentation of an otherwise rare pathology and hence we believe it contributes to the literature on PHNETs by supplementing it with information on an uncommon variation of an infrequent pathology.
Introduction: Coronavirus-19 (COVID) is primarily a respiratory virus which is known to impact the gastrointestinal tract through propagation of a proinflammatory cytokine cascade. It is unknown if inflammation from COVID, acuity of illness due to COVID or other factors such as medications or co-morbidities increase the risk of bleeding in COVID-19 patients as compared to non-COVID infected patients. Methods: This is a retrospective study performed between July 1, 2020 and January 30, 2021. A total of 395 patients were identified that met the inclusion criteria of the protocol. Patient charts were reviewed and data extracted. Fisher's exact test or Chi-squared test were used to find the association between 2 categorical variables. Two-sample t-test or Wilcoxon rank-sum test were used to compare a continuous variable between the two groups. A p-value , 0.05 was considered statistically significant and Stata V17 was used to perform the analysis. Results: The average age in the whole sample was 67.23 years old (Std. dev514.68). Table also shows that there was no statistical difference (p50.94) in mean age between patients with COVID (mean: 67.32, Std. dev: 11.92) and non-COVID (mean: 67.19, Std. dev: 15.80). There was statistically significant association (p-value50.010) between the comorbidity Diabetes and the COVID group. Specifically, there were more Diabetic patients (51.22%) in the COVID group than the non-COVID group (37.5%). The median INR in the non-COVID group was lower 1.20 (1.10-1.40) compared with the COVID group 1.30 (1.10-1.50; p50.003). NSAID use was higher in non-COVID patients than in COVID patients (30 vs. 3, p50.003). The rate of active bleeding among COVID patients was 36/123 (29%), versus 63/272 (23%) in non-COVID patients (p50.21). Although the rate of active bleeding was higher in Non-COVID patients, the location of bleeding etiology was higher in the small bowel for COVID patients (13% vs. 8%). Conclusion: There was no statistically significant relationship found between rate of active bleeding in COVID and non-COVID patients. This could potentially be explained by the tendency to defer endoscopy early in the pandemic in COVID patients due to infectious control concerns. Additionally, there was also an inclination to conservatively manage critically ill patients. In the future, the rate of bleeding in COVID and non-COVID patients should be reviewed over a longer time frame of the pandemic, and the vaccination status of patients should also be considered.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.