A rare hemoglobinopathy duo: Hb Adana×Hb SEA in a 1-year-old patient - a case report and a brief literature review.

Introduction and importance: Alpha thalassemia, resulting from nondeletional mutations, typically presents a more severe clinical manifestation compared to deletional mutations. Severe outcomes, such as hydrops fetalis, are associated with two specific nondeletional mutations. Therefore, DNA-based investigation is crucial for suspected carriers exhibiting subtle hematological abnormalities to facilitate proper diagnosis and effective family counseling. Case presentation: In this report, the authors describe a phenotypically normal 1-year-old girl with a rare and unique alpha-thalassemia genotype due to the presence of Hb Adana, a nondeletional alpha-chain mutation compounded with Hb SEA, an alpha-globin gene deletion. Clinical discussion: Mutations determine the clinical manifestations of alpha-thalassemia. DNA testing is recommended for suspected carriers with relatively small hematological abnormalities, for precise diagnosis and family counseling. To provide clinicians with a reference for diagnostic assessment, the authors established a genotype-phenotype correlations based on reported cases of Hb Adana following an exhaustive literature review. Being interested in determining which ethnicities and genotypes are associated with a higher risk of complications, including hydrops fetalis and transfusion dependence, the authors formalized a diagnostic evaluation guide and a guide for early screening to improve outcomes. Conclusion: Precise genetic evaluation is important for the diagnosis of alpha thalassemia. Hematologists play a critical role in managing these disorders, understanding genotype-phenotype correlations, and highlighting the significance of genetic counseling for high-risk patients. Extensive studies on these various genophenotypes are required to improve the diagnosis and prognosis of such medical conditions and advocate preventative strategies.

Evaluating the potential mediating role of ADAMTS13 activity in the relationship between obesity and the severity of COVID-19: A retrospective cohort study.

Obesity and low enzyme A disintegrin and metalloproteinase with thrombospondin type-1 motif-13 (ADAMTS13) activity have been linked to poor coronavirus disease 2019 (COVID-19). Given that obesity may influence ADAMTS13 activity, it is feasible; however, it remains unclear whether ADAMTS13 activity acts as a mediator between obesity and COVID-19 outcomes. We investigated the link between body mass index (BMI) and COVID-19 outcomes, using ADAMTS13 activity as a mediator. ADAMTS13 activity was measured in 86 hospitalized COVID-19 patients. BMI, ADAMTS13 activity, and COVID-19 outcomes were assessed. Obese patients had a high odds ratio for low ADAMTS13 levels. When different levels of ADAMTS13 activity were considered, the severity of COVID-19 in obese patients was 4.5 times that in the normal BMI group. Furthermore, increased coagulopathy indicators correlated with low ADAMTS13 activity. Patients with elevated ALT and AST levels showed a 3 to 4-fold increase in the chances of low ADAMTS13 activity (OR:3.19, 95% CI:1.22-8.90, P = .021; OR:2.17, 95% CI:0.91-5.27, P = .082, respectively). When ADAMTS13 activity was considered, obese patients had greater COVID-19 severity and slower viral clearance than those with normal BMI. Low ADAMTS13 activity and impaired liver function are associated with poor COVID-19 outcomes. These findings encourage researchers to use molecular component identification to study the effects of obesity on the von Willebrand factor (VWF)/ADAMTS13 axis, COVID-19 pathogenesis, and outcomes.

Knowledge and Attitude of Healthcare Providers Regarding Palliative Care and Related Factors: An Online Cross-Sectional Study.

BACKGROUND: Palliative care alleviates pain and enhances the quality of life of patients with life-threatening illnesses. Training programs are required to provide patients with proper care and advance their health because the expertise of healthcare personnel in palliative care is inadequate. AIM: We aimed to assess healthcare professionals' knowledge of palliative care because palliative care programs are infrequently used in Syria. METHODS: An online cross-sectional study was conducted between July 24, 2022, and August 28, 2022, to assess palliative care knowledge and applications among Syrian healthcare workers. The study questionnaire was designed in accordance with a previous study, and the inclusion criteria included Syrian healthcare workers, physicians, and nurses, as well as medical and nursing students. The first section of the questionnaire included sociodemographic information, while the second, third, and fourth sections assessed healthcare workers' experiences, knowledge, and attitudes toward palliative care, respectively. RESULTS: Of the 602 participants, 66.2% of the sample study were females. The majority of the respondents (72.9%) were medical students, with 18.8% residents and 8.3% nurses or nursing students. The majority of the participants (84%) correctly answered the question about pain treatment goals, while only a small percentage (5.3%) correctly answered the question about whether long-term opioid use was addictive. There were no statistically significant differences in the overall knowledge levels across demographic areas, genders, or specialties. Only 14 participants were considered knowledgeable about palliative care. Regarding attitudes toward palliative care, the three responses that received the greatest degree of agreement were "Pain relievers should be given as needed to terminally ill patients" (89.7%) and "Patients have the right to determine their own degree of psychosocial intervention" (81%). Residents in urban and rural areas scored markedly different in their attitudes. Students in their fifth year were 8.06 times more likely to have a positive attitude when compared to those in their first year. CONCLUSIONS: Our findings show that Syrian healthcare providers lack knowledge of palliative care. It is important to integrate palliative care into Syria's healthcare system to enhance the quality of life of patients who are approaching the end of their lives and to provide care for those who require it.

Interleukin-6 and the determinants of severe COVID-19: A retrospective cohort study.

Cytokines, notably interleukin-6 (IL-6), increase considerably in patients with severe corona virus disease 2019 (COVID-19). This vigorous immune response may cause end-organ failure or death; hence, measuring IL-6 in the context of patient characteristics may help predict outcomes and encourage early comprehensive therapy. This study investigated the association between serum IL-6 levels, COVID-19 severity, and demographic, clinical, and biochemical characteristics. COVID-19 inpatients in NMC hospitals were investigated between November 2020 and November 2021. Several patient variables related to serum IL-6 and COVID-19 severity have been examined. The study included 374 COVID-19 inpatients, 235 of whom had severe disease with a median age of 51. The elderly had an increased risk of severe COVID-19 (73.8%) compared with young adults (71%), with higher white blood cells, D-dimer, Lactate dehydrogenase, creatinine, ferritin, prothrombin time, Procalcitonin, and fibrinogen levels (P < .001). C-reactive protein, troponin, intensive care unit admission, disease severity score, and mortality were significantly associated with higher serum IL-6 levels (P = .05) in the univariate analysis, but this significance disappeared in the multivariate analysis. IL-6, along with other demographic and clinical variables affected COVID-19 severity. These characteristics may predict patients at risk of severe disease and assist in establishing early comprehensive disease outcome strategies. Large-scale clinical research is needed to emphasize IL-6 and COVID-19.