International Journal of Cardiovascular Imaging, Nov 17, 2021
The submitted manuscript is a “Letter to the Editor” with reference to the “Evaluation of electro... more The submitted manuscript is a “Letter to the Editor” with reference to the “Evaluation of electrocardiography, echocardiography and cardiac T2* for cardiac complications in beta thalassemia major” by Fadime Ersoy Dursun et al. (The International Journal of Cardiovascular Imaging. https://doi.org/10.1007/s10554-021-02421-x).
Acute chest syndrome (ACS) is a common cause of death for sickle cell disease patients. This synd... more Acute chest syndrome (ACS) is a common cause of death for sickle cell disease patients. This syndrome is defined as: respiratory symptoms, new X-ray findings developed and/or fever; ACS requires prompt treatment to avoid clinical deterioration and death in adults with sickle cell disease. Sixteen episodes of acute chest syndrome were studied in 16 adults with sickle cell disease. The clinical and radiological findings, treatment, response and outcome of the episode were evaluated respectively. The patient's past history and comorbidities were taken into account in the outcome and days of hospitalization. Fourteen patients recovered with no sequelae; one patient who required mechanical ventilation also recovered; one patient died due to pulmonary emboli. The mean hospitalization days were 7.43.
SummarySickle cell disease (SCD) is one of the most common monogenic disorders worldwide and live... more SummarySickle cell disease (SCD) is one of the most common monogenic disorders worldwide and liver complications are common in this group of patients. Our study aims to highlight the prevalence of chronic liver complications and the main predisposing factors for advanced liver fibrosis in SCD patients. For this purpose, 219 patients from eight Thalassemia and Sickle Cell Units across Greece enrolled in our study and history of liver related disease complications was recorded, as well as a full laboratory and imaging analysis concerning their liver function. 13.6% of the patients had advanced liver fibrosis. The presence of liver fibrosis was significantly correlated with advanced age, male gender, cholelithiasis and higher LDH, γ‐GT, INR, direct and indirect bilirubin levels. These patients had exhibited significantly more episodes of liver crises and acute intrahepatic cholestasis. No correlation was observed with right heart failure or previous viral hepatitis. Patients with advan...
Introduction Right ventricular function among β-thalassemia (β-TM) patients is affected by both p... more Introduction Right ventricular function among β-thalassemia (β-TM) patients is affected by both pulmonary circulation pressure and primary iron deposition on right ventricular myocardium. Purpose In our study we aimed to detect the presence of impaired right ventricular function and right ventricle to pulmonary circulation (RV-PC) coupling by applying novel echocardiographic techniques among these patients. Methods 47 β-TM patients (mean age 39.02±8.76 years, 48.9% male sex) and 24, age and sex matched, healthy controls were examined by transthoracic echocardiography. Conventional echocardiographic parameters were estimated (LVEF, E/e' ratio, left atrial volume index (LAVI), right ventricular systolic pressure (RVSP), S' wave of tricuspid annulus), alongside with deformation indices (left atrial strain at reservoir phase (LASr), right ventricular free wall (RVfw) and 4 chamber (RV4c) strain), as well as RV-PC coupling expressed as S'/RVSP, RVfw/RVSP and RV4c/RVSP. T2* wa...
Heart disease is among the primary causes of morbidity and mortality in β-thalassemia major (β-TM... more Heart disease is among the primary causes of morbidity and mortality in β-thalassemia major (β-TM). Conventional echocardiography has failed to identify myocardial dysfunction at an early stage among these patients, thus speckle tracking echocardiography (STE) has been lately used. The objectives of this review were to 1) identify all published studies having evaluated myocardial strain among β-TM patients, 2) gather their results, 3) compare their findings and 4) propose recommendations based on these data. Literature search was conducted in PubMed, SCOPUS and Cohrane Library. Data regarding left ventricular global longitudinal (LV-GLS), circumferential (LV-GCS) and radial strain (LV-GRS), right ventricular longitudinal strain (RV-GLS), left and right atrial strain were extracted. Thirty-five studies (34 original articles and 1 meta-analysis) have met the inclusion criteria. LV-GLS has been reported being worse in patients compared to controls in 13 of 21 studies, LV-GCS in 7 of 11...
Background: Sickle cell disease (SCD) is one of the most prevalent genetic diseases, affecting be... more Background: Sickle cell disease (SCD) is one of the most prevalent genetic diseases, affecting between 20 and 25 million people worldwide. In the Sub-Saharan Africa, where it is more prevalent, it contributes to 50–80% of under-5 mortality. Clinical manifestations of SCD are very heterogeneous and the intestinal microbiome appears to be crucial in the modulation of inflammation, cell adhesion and induction of aged neutrophils, which are the main interveners of recurrent vaso-occlusive crisis. Enterocyte injury, increased permeability, altered microbial composition, and bacterial overgrowth have all been documented as microbial and pathophysiologic changes in the gut microbiome of SCD patients in recent research studies. Microbiota analysis in SCD populations will be essential to demonstrate the importance of specific bacteria and their function in this disease and provide new insights for attenuating symptoms and new drug targets. Aims: Given this, our aim is to sequence by NGS bacterial 16S RNA gene in order to characterize the gut microbiome of SCD children and healthy siblings, as a control. A written informed consent was presented and explained to all the guardian participants prior to the data collection. A total of 72 stool samples were obtained from children between 3–14 years old. Results: Our preliminary results showed that the SCD and control samples exhibit some notable differences in microbiota relative abundance, at different levels of classification. Children with the disease have a higher number of the phylum Actinobacteria (p=0.013) with a mean of sequences of 5.47% (± 3.49), while the siblings have a mean of 3.25% (± 2.98). As for the genus level, only Clostridium cluster XI bacteria was more prevalent in the SCD children, whereas the siblings had higher numbers of Blautia, Aestuariispira, Campylobacter, Helicobacter, Polaribacter and Anaerorhabdus. Conclusion: There is still much to learn before fully relying on the therapeutic approaches for gut modulation, which is why more research in this field is crucial to making this a reality. This works as been supported by FCT/Aga Khan (project no330842553) and FCT/MCTES (UIDB/05608/2020 and UIDP/05608/2020) –H&TRC.
Extramedullary hematopoiesis is a common compensatory phenomenon to chronic hemolytic anemias. Wh... more Extramedullary hematopoiesis is a common compensatory phenomenon to chronic hemolytic anemias. When the primary sites of hemopoiesis in the adult fail, as in hemoglobinopathies (especially thalassemia and sickle cell disease), various extramedullary sites take on the role of blood formation. Extramedullary hemopoiesis favors certain sites such as the liver, the spleen, and the paraspinal regions of the thorax and rare the process can involve virtually any organ or tissue and can often manifest as a mass mimicking a neoplasm. The diagnosis of EMH can be established with reasonable certainty on the basis of the characteristic radiologic findings in a patient with a predisposing hematologic condition.
Hemoglobinopathies, including sickle cell disease (SCD) and thalassemia syndromes, represent the ... more Hemoglobinopathies, including sickle cell disease (SCD) and thalassemia syndromes, represent the commonest monogenic diseases in the world. Although their pathogenicity is well established, the diverse clinical manifestations and the varying degree of severity are less understood and are thought to be governed, in part, by genetic modifiers. Despite the identification and characterization of a few genetic modifiers by previous studies, these are as yet insufficient to guide treatment recommendations or stratify patients reliably. Larger, multi-ethnic studies are needed to identify and validate further disease modifiers that can be used for patient stratification and personalized treatment. There is a growing need for deeper insight with the availability of novel targeted therapies and potentially curative options like gene therapy in both SCD and thalassemia. The International Hemoglobinopathy Research Network (INHERENT) is a recently established network with the aim of investigatin...
International Journal of Cardiovascular Imaging, Nov 17, 2021
The submitted manuscript is a “Letter to the Editor” with reference to the “Evaluation of electro... more The submitted manuscript is a “Letter to the Editor” with reference to the “Evaluation of electrocardiography, echocardiography and cardiac T2* for cardiac complications in beta thalassemia major” by Fadime Ersoy Dursun et al. (The International Journal of Cardiovascular Imaging. https://doi.org/10.1007/s10554-021-02421-x).
Acute chest syndrome (ACS) is a common cause of death for sickle cell disease patients. This synd... more Acute chest syndrome (ACS) is a common cause of death for sickle cell disease patients. This syndrome is defined as: respiratory symptoms, new X-ray findings developed and/or fever; ACS requires prompt treatment to avoid clinical deterioration and death in adults with sickle cell disease. Sixteen episodes of acute chest syndrome were studied in 16 adults with sickle cell disease. The clinical and radiological findings, treatment, response and outcome of the episode were evaluated respectively. The patient's past history and comorbidities were taken into account in the outcome and days of hospitalization. Fourteen patients recovered with no sequelae; one patient who required mechanical ventilation also recovered; one patient died due to pulmonary emboli. The mean hospitalization days were 7.43.
SummarySickle cell disease (SCD) is one of the most common monogenic disorders worldwide and live... more SummarySickle cell disease (SCD) is one of the most common monogenic disorders worldwide and liver complications are common in this group of patients. Our study aims to highlight the prevalence of chronic liver complications and the main predisposing factors for advanced liver fibrosis in SCD patients. For this purpose, 219 patients from eight Thalassemia and Sickle Cell Units across Greece enrolled in our study and history of liver related disease complications was recorded, as well as a full laboratory and imaging analysis concerning their liver function. 13.6% of the patients had advanced liver fibrosis. The presence of liver fibrosis was significantly correlated with advanced age, male gender, cholelithiasis and higher LDH, γ‐GT, INR, direct and indirect bilirubin levels. These patients had exhibited significantly more episodes of liver crises and acute intrahepatic cholestasis. No correlation was observed with right heart failure or previous viral hepatitis. Patients with advan...
Introduction Right ventricular function among β-thalassemia (β-TM) patients is affected by both p... more Introduction Right ventricular function among β-thalassemia (β-TM) patients is affected by both pulmonary circulation pressure and primary iron deposition on right ventricular myocardium. Purpose In our study we aimed to detect the presence of impaired right ventricular function and right ventricle to pulmonary circulation (RV-PC) coupling by applying novel echocardiographic techniques among these patients. Methods 47 β-TM patients (mean age 39.02±8.76 years, 48.9% male sex) and 24, age and sex matched, healthy controls were examined by transthoracic echocardiography. Conventional echocardiographic parameters were estimated (LVEF, E/e' ratio, left atrial volume index (LAVI), right ventricular systolic pressure (RVSP), S' wave of tricuspid annulus), alongside with deformation indices (left atrial strain at reservoir phase (LASr), right ventricular free wall (RVfw) and 4 chamber (RV4c) strain), as well as RV-PC coupling expressed as S'/RVSP, RVfw/RVSP and RV4c/RVSP. T2* wa...
Heart disease is among the primary causes of morbidity and mortality in β-thalassemia major (β-TM... more Heart disease is among the primary causes of morbidity and mortality in β-thalassemia major (β-TM). Conventional echocardiography has failed to identify myocardial dysfunction at an early stage among these patients, thus speckle tracking echocardiography (STE) has been lately used. The objectives of this review were to 1) identify all published studies having evaluated myocardial strain among β-TM patients, 2) gather their results, 3) compare their findings and 4) propose recommendations based on these data. Literature search was conducted in PubMed, SCOPUS and Cohrane Library. Data regarding left ventricular global longitudinal (LV-GLS), circumferential (LV-GCS) and radial strain (LV-GRS), right ventricular longitudinal strain (RV-GLS), left and right atrial strain were extracted. Thirty-five studies (34 original articles and 1 meta-analysis) have met the inclusion criteria. LV-GLS has been reported being worse in patients compared to controls in 13 of 21 studies, LV-GCS in 7 of 11...
Background: Sickle cell disease (SCD) is one of the most prevalent genetic diseases, affecting be... more Background: Sickle cell disease (SCD) is one of the most prevalent genetic diseases, affecting between 20 and 25 million people worldwide. In the Sub-Saharan Africa, where it is more prevalent, it contributes to 50–80% of under-5 mortality. Clinical manifestations of SCD are very heterogeneous and the intestinal microbiome appears to be crucial in the modulation of inflammation, cell adhesion and induction of aged neutrophils, which are the main interveners of recurrent vaso-occlusive crisis. Enterocyte injury, increased permeability, altered microbial composition, and bacterial overgrowth have all been documented as microbial and pathophysiologic changes in the gut microbiome of SCD patients in recent research studies. Microbiota analysis in SCD populations will be essential to demonstrate the importance of specific bacteria and their function in this disease and provide new insights for attenuating symptoms and new drug targets. Aims: Given this, our aim is to sequence by NGS bacterial 16S RNA gene in order to characterize the gut microbiome of SCD children and healthy siblings, as a control. A written informed consent was presented and explained to all the guardian participants prior to the data collection. A total of 72 stool samples were obtained from children between 3–14 years old. Results: Our preliminary results showed that the SCD and control samples exhibit some notable differences in microbiota relative abundance, at different levels of classification. Children with the disease have a higher number of the phylum Actinobacteria (p=0.013) with a mean of sequences of 5.47% (± 3.49), while the siblings have a mean of 3.25% (± 2.98). As for the genus level, only Clostridium cluster XI bacteria was more prevalent in the SCD children, whereas the siblings had higher numbers of Blautia, Aestuariispira, Campylobacter, Helicobacter, Polaribacter and Anaerorhabdus. Conclusion: There is still much to learn before fully relying on the therapeutic approaches for gut modulation, which is why more research in this field is crucial to making this a reality. This works as been supported by FCT/Aga Khan (project no330842553) and FCT/MCTES (UIDB/05608/2020 and UIDP/05608/2020) –H&TRC.
Extramedullary hematopoiesis is a common compensatory phenomenon to chronic hemolytic anemias. Wh... more Extramedullary hematopoiesis is a common compensatory phenomenon to chronic hemolytic anemias. When the primary sites of hemopoiesis in the adult fail, as in hemoglobinopathies (especially thalassemia and sickle cell disease), various extramedullary sites take on the role of blood formation. Extramedullary hemopoiesis favors certain sites such as the liver, the spleen, and the paraspinal regions of the thorax and rare the process can involve virtually any organ or tissue and can often manifest as a mass mimicking a neoplasm. The diagnosis of EMH can be established with reasonable certainty on the basis of the characteristic radiologic findings in a patient with a predisposing hematologic condition.
Hemoglobinopathies, including sickle cell disease (SCD) and thalassemia syndromes, represent the ... more Hemoglobinopathies, including sickle cell disease (SCD) and thalassemia syndromes, represent the commonest monogenic diseases in the world. Although their pathogenicity is well established, the diverse clinical manifestations and the varying degree of severity are less understood and are thought to be governed, in part, by genetic modifiers. Despite the identification and characterization of a few genetic modifiers by previous studies, these are as yet insufficient to guide treatment recommendations or stratify patients reliably. Larger, multi-ethnic studies are needed to identify and validate further disease modifiers that can be used for patient stratification and personalized treatment. There is a growing need for deeper insight with the availability of novel targeted therapies and potentially curative options like gene therapy in both SCD and thalassemia. The International Hemoglobinopathy Research Network (INHERENT) is a recently established network with the aim of investigatin...
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