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1.
Int J Endocrinol ; 2023: 9355672, 2023.
Article in English | MEDLINE | ID: mdl-36686321

ABSTRACT

Purpose: To evaluate the effect of teriparatide (TPTD) on bone mineral density (BMD) and bone markers under clinical practice conditions. To assess whether the results in real-life match those published in clinical trials. Methods: Cross-sectional study of postmenopausal women treated with TPTD for at least 12 months. Results: 264 patients were included in the study. Main characteristics are as follows: age: 68.7 ± 10.2 years, previous fractures: 57.6%, and previously treated with antiresorptive (AR-prior): 79%. All bone turnover markers studied significantly increased after 6 months. CTX and BGP remained high up to 24 months, but total and bone alkaline phosphatase returned to basal values at month 18. There was a significant increase in lumbar spine (LS) BMD after 6 months (+6.2%), with a maximum peak at 24 months (+13%). Femoral neck (FN) and total hip (TH) BMD showed a significant increase later than LS (just at month 12), reaching a maximum peak at month 24 (FN + 7.9% and TH + 5.5%). A significant increase in LS BMD was found from month 6 to month 24 compared to basal in both AR-naïve, and AR-prior patients (+16.7% and +10.5%, respectively), without significant differences between the two groups. Comparable results were found in FN and TH BMD. Main conclusions. As reported in real-life clinical studies, treatment of osteoporotic postmenopausal women with TPTD induced a significant increase in bone turnover markers from month 6 onward and an increase in BMD from months 6-12 with continuous gain up to month 24. The real-life results of our study matched the results of randomized clinical trials. In addition, TPTD induced an increase in BMD, regardless of the previous use of AR.

3.
Front Mol Biosci ; 9: 1108896, 2022.
Article in English | MEDLINE | ID: mdl-36699704

ABSTRACT

The rheological properties of blood play an important role in regulating blood flow in micro and macro circulation. In thalassemia syndromes red blood cells exhibit altered hemodynamic properties that facilitate microcirculatory diseases: increased aggregation and reduced deformability, as well as a marked increase in adherence to the vascular endothelial cells. A personalized approach to treating thalassemia patients (transfusions, iron chelation, and splenectomy), has increased patients' life expectancy, however they generally present many complications and several studies have demonstrated the presence of high incidence of thromboembolic events. In this study the hemorheological profiles of thalassemia patients have been characterized to point out new indices of vascular impairment in thalassemia. Plasma viscosity, blood viscosities at low and high shear rates (η1 and η200, respectively), erythrocyte aggregation index (η1/η200), and the erythrocyte viscoelastic profile (elastic modulus G', and viscous modulus G") have been studied in transfusion-dependent and non-transfusion-dependent thalassemia patients. Moreover, the levels of inflammation biomarkers in thalassemia have been evaluated to investigate a relationship between the biomarkers, the disease severity and the rheological parameters. The biomarkers studied are the main components of the immune and endothelial systems or are related to vascular inflammation: cytokines (IL-2, IL-6, IL-10, IL-17A, TNF-alpha), chemokines (IL-8, MIP-1alpha), adipocytokines (leptin and adiponectin), growth factors (VEGF, angiopoietin-1), adhesion molecules (ICAM-1, VCAM-1, E-selectin, L-selectin), and a monocyte/macrophage activation marker (CD163). This study shows that transfusion-dependent thalassemia patients, both major and intermedia, have blood viscosities comparable to those of healthy subjects. Non-transfusion-dependent thalassemia intermedia patients show high blood viscosities at low shear rates (η1), corresponding to the flow conditions of the microcirculation, an increase in erythrocyte aggregation, and high values of the elastic G' and viscous G" modules that reflect a reduced erythrocyte deformability and an increase in blood viscosity. Levels of cytokines, chemokines and adhesion molecules are different in transfusion- and non-transfusion dependent patients and positive correlations between η1 or η1/η200 and the cytokines IL-6 and IL-10 have been observed. The evaluation of the hemorheological profiles in thalassemia can provide new indicators of vascular impairment and disease severity in thalassemia in order to prevent the onset of thromboembolic events.

4.
Talanta ; 219: 121243, 2020 Nov 01.
Article in English | MEDLINE | ID: mdl-32887134

ABSTRACT

In this study, the capability of thermogravimetry in conjuction with a multivariate statistical analysis, was investigated for the screening of Sickle Cell Anemia (SCA), a hereditary disorder of hemoglobin characterized by severe hemolytic anemia with different severe clinical manifestations. SCA results from a mutation in the sixth codon of the beta globin gene, which results in the substitution of glutamic acid for valine and leads to the production of an altered form of hemoglobin, hemoglobin S (HbS). People with this disorder have atypical hemoglobin molecules which tend to aggregate together and form filaments inside the red blood cells. These deformed red blood cells called half-moon or sickle, are rigid and unable to flow inside the small vessels, creating occlusions of the small circulation. Systematic screening for SCA is not a common practice, and diagnosis is usually made when a severe complication occurs. An early and rapid diagnosis is important for patients in order to prevent and treat the painful episodes that can occur when sickled red blood cells, which are stiff and inflexible, get stuck in small blood vessels. A novel test was developed using whole blood samples from patients with congenital defects and analyzed by the TG7 thermobalance (PerkinElmer) without any pretreatment. The resulting TG and DTG curves of blood samples were compared to those typical of healthy individuals and results demonstrated a different thermal behaviour of the anemic patients with respect to healthy individuals as result of the different amounts of water content and corpuscular fraction. The multivariate statistical analysis performed by chemometrics allowed a quick identification of differences between the two population and provided a model of prediction in patients with heterogeneous congenital hematological disorders. The predictive ability of the model was tested by processing patient affected by SCA and with a confirmed diagnosis obtained by the molecular analysis. The model provided for a sensitivity and an accuracy of a 100% and an error of prediction of about 0.1%.


Subject(s)
Anemia, Sickle Cell , Hemoglobin, Sickle , Anemia, Sickle Cell/diagnosis , Anemia, Sickle Cell/genetics , Early Diagnosis , Erythrocytes , Hemoglobin, Sickle/genetics , Hemoglobins , Humans , Models, Theoretical
5.
Front Mol Biosci ; 7: 141, 2020.
Article in English | MEDLINE | ID: mdl-32850950

ABSTRACT

Introduction: Hemoglobinopathies are the most common genetic disorder wordlwide and because of migrations are become an emerging global health problem. Screening programmes for Sickle cell disease and Thalassemia have been implemented in some countries, but are not a common practice, due to a lack in the accuracy of the methods and to the costs of the analyses. Objectives: The objective of this study was the application of the thermogravimetry coupled to chemometrics as new screening method to perform an early diagnosis of thalassemia and sickle cell disease. Methods: Whole blood samples (30 µL) from sickle cell anemia and thalassemia patients were analyzed using the thermobalance TG7 and the resulting curves were compared with those of healthy individuals. A chemometric approach based on Principal Components Analysis (PCA) was exploited to enhance correlation between thermogravimetric profiles and a model of prediction by Partial Least Square Discriminant Analysis (PLS-DA) was developed and validated. Results: The characteristic profile of the blood sample thermal decomposition and the first derivative of the TG curve showed that patients were clearly distinguished from healthy individuals as a result of different amounts of water and corpuscular fraction of blood. The chemometric approach based on PCA allowed a quick identification of differences between healthy subjects and patients and also between thalassemic and sickle cell anemia subjects. Chemometric tools (PLS-DA) were used to validate a model of prediction to process the thermogravimetric curves and to obtain in 1 h an accurate diagnosis. The TGA/Chemometric test permitted to perform first level test for hemoglobinopathies with the same accuracy of confirmatory analyses obtained by the molecular investigation. Conclusions: A screening test based on the coupling of thermogravimetry and chemometrics was optimized for the differential diagnosis of hemoglobinopathies. The novel test is able to simultaneously perform a simple and fast diagnosis of sickle cell anemia or thalassemia, in a single analysis of few microliters of non-pretreated whole blood at low cost, and with high accuracy. Moreover this method results particularly suitable in pediatric patients as it requires small sample volumes and is able to characterize also transfused patients.

6.
Ann Hematol ; 99(10): 2265-2277, 2020 Oct.
Article in English | MEDLINE | ID: mdl-32803313

ABSTRACT

ß-Thalassemia is an inherited single gene disorder related to reduced synthesis of the ß-globin chain of hemoglobin. Patients with ß-thalassemia present variable clinical severity ranging from asymptomatic trait to severe transfusion-dependent anemia and multiple organs complications. Moreover, multiple immune abnormalities are a major concern in ß-thalassemia patients. Aberrant neutrophil effector function plays a pivotal role in infection susceptibility in these patients. In severe and persistent inflammation, immature neutrophils are released from the bone marrow and are functionally different compared with mature ones. Despite some abnormalities reported for thalassemia patient's immune system, few data exist on the characterization of human neutrophils in ß-thalassemia. The aim of this study was to investigate the phenotype and function of circulating neutrophil subsets in patients with ß-thalassemia major and with ß-thalassemia intermedia divided in transfusion-dependent and non-transfusion-dependent. By the use of immunochemical and cytofluorimetric analyses, we observed that patients' CD16+ neutrophils exhibit abnormalities in their phenotype and functions and the abnormalities vary according to the clinical form of the disease and to the neutrophil subset (CD16bright and CD16dim). Abnormalities include altered surface expression of the innate immune receptor CD45, Toll-like receptor 4, and CD32, reduced ability to produce an oxidative burst, and elevated levels of membrane lipid peroxidation, especially in patients with a more severe form of the disease. Overall, our results indicating the occurrence of an immuno-senescent phenotype on circulating neutrophils from thalassemia patients suggest the usefulness of neutrophil feature assessment as a tool for better clinical management of ß-thalassemia.


Subject(s)
Neutrophils/immunology , beta-Thalassemia/blood , Adult , Antigens, CD/blood , Blood Component Transfusion , Cellular Senescence , Chelation Therapy , Female , Ferritins/blood , Humans , Immunophenotyping , Iron Chelating Agents/therapeutic use , Leukocyte Count , Lipid Peroxidation , Male , Middle Aged , Neutrophil Activation , Neutrophils/chemistry , Neutrophils/classification , Respiratory Burst , Splenectomy , Toll-Like Receptor 4/blood , Young Adult , beta-Thalassemia/immunology , beta-Thalassemia/therapy
8.
Chem Commun (Camb) ; 56(55): 7557-7560, 2020 Jul 14.
Article in English | MEDLINE | ID: mdl-32555869

ABSTRACT

A multi-screening test based on the coupling of thermogravimetry and chemometrics was optimized for the differential diagnosis of hereditary hemolytic anemias. The novel test is able to simultaneously perform a simple and fast diagnosis of sickle cell anemia, thalassemia, hereditary spherocytosis and hereditary elliptocytosis in a single analysis of a few microliters of non-pretreated whole blood. The thermogravimetric profile of blood from patients affected by such disorders was found to be characteristic of a specific anemic status or a disorder due to membrane defects. In addition, chemometric tools were used to validate a model of prediction to process the thermogravimetric curves and to obtain in 1 hour an accurate diagnosis. The effectiveness of the novel test was evaluated by comparing results with the confirmatory analyses specific for each disorder. The TGA/chemometric test made it possible to perform a first level test of congenital erythrocyte defects, including the hemoglobinopathies and disorders due to membrane defects with the same accuracy of confirmatory analyses obtained by molecular investigation. In addition, the novel test was used for the diagnosis of a number of Italian difficult cases, including neonatal patients for which the conventional screening tests did not manage to obtain a diagnosis confirming the high prediction ability of the single multiscreening test.


Subject(s)
Anemia, Hemolytic, Congenital/diagnosis , Adolescent , Adult , Anemia, Hemolytic, Congenital/blood , Anemia, Hemolytic, Congenital/classification , Child , Diagnosis, Differential , Discriminant Analysis , Erythrocyte Membrane/metabolism , Erythrocytes/metabolism , Female , Humans , Least-Squares Analysis , Male , Middle Aged , Thermogravimetry/methods , Young Adult
9.
Front Mol Biosci ; 7: 7, 2020.
Article in English | MEDLINE | ID: mdl-32118034

ABSTRACT

Hepatitis C virus (HCV) infection is one of the most serious complications of transfusion therapy in the thalassemia and sickle cell disease (SCD) population before 1990; in fact, since 1990 serological tests were made available to detect infection in blood donors. The iron chelation therapy has improved the life expectancy of these patients and, consequently, a decrease in death due to heart disease may be observed, as well as an increase in liver disease due to the iron overload and HCV infection that lead to liver fibrosis, cirrhosis, and hepatocellular carcinoma. Until few years ago, the recommended therapy for HCV treatment consisted of pegylated-interferon alpha plus ribavirin, a therapy with important side effects. This treatment has been severely limited to thalassemic and SCD patients due to the hemolytic anemia induced by ribavirin causing an increase in the number of blood transfusions. The development of highly effective Direct-acting Antiviral Agents toward different viral genotypes has led to a real HCV eradication with negative viremia and sustained viral response between 90 and 98%. At the beginning some indications of Direct-acting Antiviral Agents administration were available for those patients exhibiting advanced cirrhosis or needing liver transplantation over time for the high costs of the new drugs. Recently, all treatment regimens can be used for patients with various HCV genotypes, different stages of liver disease, and comorbidities. The HCV eradication has also led to a marked improvement in the parameters of martial accumulation, demonstrating a synergic action also between the effect of antiviral therapy and iron chelation.

10.
Front Mol Biosci ; 7: 16, 2020.
Article in English | MEDLINE | ID: mdl-32118041

ABSTRACT

The life expectancy of thalassemia patients has increased significantly in recent years being the most "elderly" patients approaching or are over 50 years old. Consequently, patients' perspectives have changed, leading them to longer-term planning with a consequent increase in their reproductive potential and desire to have children. Crucial points in the management of pregnancy in thalassemia are the iron chelation therapy before and during pregnancy, the antithrombotic prophylaxis, the management of transfusion therapy according to the modified transfusion requirement, a cardiologic monitoring for hemodynamic changes that expose an increased risk of heart failure. Pregnancy in women with sickle cell disease is still associated with increased rates of maternal and fetal mortality and adverse outcomes. Maternal morbidity may be due to acute sickling crises, thromboembolism, infection, and chronic end-organ dysfunction, while neonatal outcomes may be intrauterine growth retardation, preterm delivery, small infants for gestational age, stillbirth, and neonatal death. The management of pregnancy in thalassemia and sickle cell disease requires to be approached by a multidisciplinary team and followed from the pre-conception phase until the post-partum period with a close monitoring of the maternal and fetal conditions, in order to ensure optimal outcome. This approach requires the application of well-defined protocols that cover all the critical aspects of pregnancies in women affected by these pathologies. We describe our experience of spontaneous and non-spontaneous pregnancies in patients with thalassemia major and intermedia and sickle cell disease followed between 1992 and 2018 at the Thalassemia Unit of S. Eugenio Hospital of Rome.

12.
Front Mol Biosci ; 6: 142, 2019.
Article in English | MEDLINE | ID: mdl-31867341

ABSTRACT

Sickle cell anemia (SCA) is the most common hereditary disorder of hemoglobin (Hb) characterized by a mutation in the ß globin gene, which leads to synthesis of HbS a hemoglobin which, under hypoxic conditions, gels and leading to the sickling of the red blood cells (RBC). The dehydration of the RBC increases the concentration of the intracellular Hb with an increase in the internal viscosity and consequently a decrease in the erythrocyte deformability. Sickle red blood cells due to their difficulty to flow through the microcirculation cause frequent vaso-occlusive episodes, tissue ischemia, and infarctions. Moreover, the reduced RBC deformability causes cell fragility leading to hemolysis and recently a key role of hemolysis and oxidative stress in the development of vascular dysfunction has been demonstrated. The aim of this study was to evaluate the hemorheological profiles of patients with SCA in order to point out new indices of vascular impairment, and to characterize the membrane oxidative damage of sickled RBC. Blood viscosities, erythrocyte aggregation, and viscoelastic profiles of SCA patients were determined, and the RBC oxidative damage was investigated by comparing metabolic capability and RBC membrane proteins from SCA patients with and without transfusion dependence. The hemorheological profile of SCA subjects demonstrated high blood viscosity, increased RBC aggregation, and decreased RBC deformability. These impaired flow properties were associated with RBC membrane protein oxidation, with degradation of spectrin and increased membrane-bound globin. The comparison between SCA patients with and without transfusion dependence showed metabolic and structural RBC oxidative damage significantly different.

14.
Actual. osteol ; 13(2): 96-103, Mayo - Ago. 2017. graf, tab
Article in Spanish | LILACS | ID: biblio-1117890

ABSTRACT

El score de hueso trabecular (TBS, Trabecular Bone Score) es una medición de la textura de los grises derivada de la evaluación del raquis por DXA y proporciona un índice de la microarquitectura ósea. Se ha demostrado que los valores bajos presentan capacidad para predecir fracturas. Nuestro objetivo fue evaluar si existían diferencias entre los valores de TBS de pacientes con fracturas frente a no fracturadas. Materiales y métodos: se revisaron 159 historias clínicas de mujeres menopáusicas que consultaron para evaluación de su salud ósea. Se consideraron los antecedentes autorreferidos de fracturas (Fx), la DMO de raquis, cuello femoral y fémur total y TBS. Resultados: treinta pacientes (18,9%) presentaron fracturas y en ellas se observó menor TBS (con Fx: 1,295±83 vs. sin Fx: 1,366±84, p<0,0001), menor índice de masa corporal (IMC) (con Fx: 23,7±1,9 vs. sin Fx: 25,7±4,2, p=0,02), sin diferencias en la edad (p=0,39), ni en valores de DMO (L1-L4 p=0,11, cuello femoral p=0,20 y fémur total p= 0,12). Muchas de las fracturas ocurrieron en pacientes sin osteoporosis por DXA. Conclusiones: el TBS aumentaría la capacidad de DXA para identificar a mujeres argentinas en riesgo de padecer fracturas sin tener osteoporosis densitométrica. Este es el primer trabajo realizado en la Argentina con medición de TBS. (AU)


Trabecular Bone Score (TBS) is a measure of the grey scale derived from DXA lumbar image and provides information about microarchitecture. It has been shown that low TBS values can predict fractures. Our objective was to evaluate if there are any differences between the TBS values in patients with fractures vs. non-fractures. Materials and methods: We reviewed 159 medical records of menopausal women who consulted for evaluation of their bone health. Self-reported fractures (Fx), spine BMD, femoral neck and total femur and TBS were evaluated. Results: thirty patients (18.9%) presented fractures and they showed lower TBS (with Fx: 1,295±0,083 vs. without Fx: 1,366±0,084, p<0.0001), lower body mass index (BMI) (with Fx: 23.7±1.9 vs. without Fx 25.7±4.2, p=0.02), without differences in ages (p=0.39) or in BMD values (L1-L4 p=0.11, femoral neck p=0.20 and total femur p=0.12). Some fractures occurred in patients without osteoporosis, as determined by DXA. Conclusions: TBS would increase the ability of DXA to identify Argentine women at risk for fractures without densitometric osteoporosis. This is the first work done in Argentina with TBS measurement. (AU)


Subject(s)
Humans , Female , Middle Aged , Aged , Bone and Bones/diagnostic imaging , Fractures, Stress/prevention & control , Densitometry/methods , Osteoporotic Fractures/prevention & control , Osteoporosis/physiopathology , Argentina , Bone and Bones/physiopathology , Menopause , Body Mass Index , Bone Density , Fractures, Stress/diagnostic imaging , Retrospective Studies , Risk Factors , Cohort Studies , Femur/physiopathology , Femur/diagnostic imaging , Osteoporotic Fractures/diagnostic imaging
15.
Actual. osteol ; 13(1): 9-16, Ene - Abr. 2017. tab
Article in Spanish | LILACS | ID: biblio-1118618

ABSTRACT

Tanto el ranelato de estroncio (RSr) como el denosumab (Dmab) son eficaces en el tratamiento de la osteoporosis (OP) posmenopáusica (PM). El efecto de cada fármaco por separado sobre la densidad mineral ósea (DMO) ha sido estudiado recientemente. Con ambas drogas se observó, al año de tratamiento, un aumento significativo de la DMO en columna lumbar (CL), cuello femoral (CF) y cadera total (CT). En este trabajo comparamos la respuesta densitométrica al año de tratamiento con una y otra droga. Utilizamos los registros de 425 pacientes PMOP tratadas con Dmab y 441 tratadas con RSr. En cada paciente analizamos el porcentaje de cambio; se clasificaron como respondedoras aquellas que mostraron un cambio ≥3%. Adicionalmente se comparó la respuesta en pacientes no previamente tratadas con bifosfonatos (BF-naïve) en comparación con pacientes que habían recibido previamente un BF. Al analizar el grupo completo para Dmab, el porcentaje de pacientes respondedoras fue de 68,4% en CL, 63,3% en CF y 49,3% en CT. Por otro lado, en el grupo de pacientes tratadas con RSr, el porcentaje de respondedoras (53,8% en CL, 40,0% en CF y 35,6% en CT) fue estadísticamente menor. Cuando comparamos la respuesta entre las pacientes BF-naïve que recibieron RSr o Dmab, el Dmab indujo mayor respuesta en CL y CF que el grupo RSr, sin diferencias en CT. Cuando se analizaron los subgrupos BF-previo, las tratadas con Dmab mostraron mayor respuesta en todas las regiones. Conclusión: en pacientes con OP-PM, el tratamiento con Dmab produjo mayores incrementos densitométricos que el RSr, siendo el porcentaje de pacientes respondedoras mayor con Dmab que con RSr. (AU)


Both strontium ranelate (SrR) and denosumab (Dmab) are effective in the treatment of postmenopausal osteoporosis (PMOP). The effect of each drug on bone mineral density (BMD) has been studied separately by us. With both treatments, there was a significant increase after one year of treatment at the lumbar spine (LS) and hip. In this paper we compared the densitometric response after one year of treatment with both drugs used separately. We used the clinical records of 425 PM patients treated with Dmab and 441 treated with SrR. For each patient we analyzed the percentage of change; those who showed a change ≥3% were classified as responders. Additionally, the response was compared in patients not previously treated with bisphosphonates (BP-naïve) compared to patients who had previously received a BP. When analyzing the complete group for Dmab, the percentage of "responders" was 65.2% at the LS, 62.9% at the femoral neck (FN) and 47.4% at the total hip (TH). On the other hand, in the group of patients treated with SrR the percentage of responders (53.8% at the LS, 40.0% at the FN and 35.6% at the TH) was statistically lower. When comparing the response between in BF-naïve patients receiving RSr or Dmab, Dmab induced a greater response at the LS and FN than the RSr group, with no statistical differences at the TH. When the subgroups with prior BP treatment were analyzed, those treated with Dmab showed greater response in all regions. Conclusion: in patients with PMOP treatment with Dmab produced greater densitometric increments than SrR, and the percentage of responders was higher with Dmab than with SrR. (AU)


Subject(s)
Humans , Female , Middle Aged , Aged , Aged, 80 and over , Strontium/therapeutic use , Osteoporosis, Postmenopausal/drug therapy , Denosumab/therapeutic use , Phosphates/blood , Strontium/administration & dosage , Strontium/chemistry , Vitamin D/administration & dosage , Biomarkers , Bone Density/drug effects , Fractures, Stress/prevention & control , Osteocalcin/blood , Osteoporosis, Postmenopausal/blood , Calcium/administration & dosage , Calcium/blood , Retrospective Studies , Teriparatide/therapeutic use , Densitometry , Diphosphonates/therapeutic use , Alkaline Phosphatase/blood , Bone Density Conservation Agents/therapeutic use , Femur Neck/drug effects , Denosumab/administration & dosage , Treatment Adherence and Compliance , Hip , Lumbosacral Region
16.
Talanta ; 159: 425-432, 2016 Oct 01.
Article in English | MEDLINE | ID: mdl-27474327

ABSTRACT

ß-Thalassemia is a hemoglobin genetic disorder characterized by the absence or reduced ß-globin chain synthesis, one of the constituents of the adult hemoglobin tetramer. In this study the possibility of using thermogravimetric analysis (TGA) followed by chemometrics as a new approach for ß-thalassemia detection is proposed. Blood samples from patients with ß-thalassemia were analyzed by the TG7 thermobalance and the resulting curves were compared to those typical of healthy individuals. Principal Component Analysis (PCA) was used to evaluate the correlation between the hematological parameters and the thermogravimetric results. The thermogravimetric profiles of blood samples from ß-thalassemia patients were clearly distinct from those of healthy individuals as result of the different quantities of water content and corpuscular fraction. The hematological overview showed significant decreases in the values of red blood cell indices and an increase in red cell distribution width value in thalassemia subjects when compared with those of healthy subjects. The implementation of a predictive model based on Partial Least Square Discriminant Analysis (PLS-DA) for ß-thalassemia diagnosis, was performed and validated. This model permitted the discrimination of anemic patients and healthy individuals and was able to detect thalassemia in clinically heterogeneous patients as in the presence of δß-thalassemia and ß-thalassemia combined with Hb Lepore. TGA and Chemometrics are capable of predicting ß-thalassemia syndromes using only a few microliters of blood without any pretreatment and with an hour of analysis time. A fast, rapid and cost-effective diagnostic tool for the ß-thalassemia screening is proposed.


Subject(s)
Hematologic Tests/methods , Models, Biological , Thermogravimetry , beta-Thalassemia/diagnosis , Erythrocyte Indices , Hematologic Tests/economics , Hematologic Tests/standards , Humans , Mass Screening , beta-Thalassemia/blood
17.
Ann Hematol ; 95(5): 757-63, 2016 Apr.
Article in English | MEDLINE | ID: mdl-26957357

ABSTRACT

In this study, we compared the long-term effects of different iron chelation regimens (deferoxamine, deferiprone, deferoxamine + deferiprone, and deferasirox) in preventing or reversing endocrinopathy (diabetes mellitus, hypothyroidism, or hypogonadism) and bone disease (measured through DEXA) in 165 adults with ß-thalassemia major (TM) (mean age 39.9 ± 8.3 years, 43 % males). After five consecutive years of therapy, patients on deferasirox had the highest decrease in the prevalence of any endocrinopathy compared to other chelators which either had no change (deferiprone and deferoxamine) or had an increase (deferoxamine + deferiprone), p = 0.015. This was attributed to a lower proportion of patients on deferasirox developing new-onset endocrinopathy and higher proportion showing reversal of disease, compared to other chelators. A serum ferritin level of >1300 ng/mL predicted the development of new endocrinopathy (p = 0.025) while a level of <200 ng/mL predicted reversal of existing endocrinopathy (p = 0.147). A significant increase in mean BMD T-score (p < 0.001) and a considerable decrease in osteoporosis prevalence were observed in patients receiving deferasirox but not other chelators. Iron chelation therapy with deferasirox has a role in the prevention of endocrinopathy and reversal of existing disease.


Subject(s)
Chelation Therapy , Iron Chelating Agents/therapeutic use , beta-Thalassemia/therapy , Adult , Benzoates/therapeutic use , Deferasirox , Deferiprone , Deferoxamine/therapeutic use , Diabetes Mellitus/etiology , Diabetes Mellitus/prevention & control , Drug Therapy, Combination , Female , Follow-Up Studies , Humans , Hypogonadism/etiology , Hypogonadism/prevention & control , Hypothyroidism/etiology , Hypothyroidism/prevention & control , Iron Overload/complications , Iron Overload/drug therapy , Male , Middle Aged , Osteoporosis/etiology , Osteoporosis/prevention & control , Prevalence , Pyridones/therapeutic use , Retrospective Studies , Transfusion Reaction , Triazoles/therapeutic use , beta-Thalassemia/complications
18.
Actual. nutr ; 16(2): 41-50, jun. 2015. tab
Article in Spanish | LILACS | ID: lil-771519

ABSTRACT

Introducción: la menopausia conlleva una ganancia del peso corporalno necesariamente relacionada con mayor ingreso calórico. Objetivos: conocer la ganancia de peso corporal a partir dela menopausia y su asociación con el perfil alimentario consumidopor una muestra de mujeres adultas. Materiales y métodos: estudio transversal observacional realizado sobre una muestra no probabilística de 116 mujeres postmenopáusicas que asistieron por primera vez a la consulta nutricional en un centro endocrinológico de la Ciudad Autónoma de Buenos Aires. Variables: ganancia de peso(en Kg), perfil alimentario según recordatorio de 24 hs, edad menopausia (<47 años; >47 años), años transcurridos en menopausia(<5 años; >5 años), estado nutricional al inicio dela menopausia (normal: IMC 18,5 a 24,9 Kg/m2; sobrepeso:IMC 25,0 a 29,9 Kg/m2 y obesidad: IMC >30,0 Kg/m2), hábito tabáquico y ejercicio físico programado. Se utilizó el Programa SARA-versión 1.2.12 para conocer consumo y SPSS 19.0calculando medias, desvío estándar y rangos. Se calcularon test de mediana, pruebas x2 o de Fisher y correlación de Pearsono Spearman según tamaño muestral. El nivel de significación estadístico se fijó en p<0,05 ...


Menopause leads to body weight gain, not necessarily related to increased caloric intake. Objectives: to determine dietary intake profile, body weight gain from menopause and its association with calories consumed in a cohort of adult women. Methodology: observational cross-sectional study conducted on a sample initial non-probabilistic 116 postmenopausal women who attended for the first nutritional consultation endocrinological or in a center of the City of Buenos Aires. Variables: weight gain (in Kg), food profile as reminder of 24 hs, age menopause (≤47 years; >47 years), years in menopause (<5 years; ≥5 years), nutritional status at the beginning of the me-nopause (normal: BMI 18,5 to 24,9 Kg/m2; overweight: BMI 25,0 to 29,9 Kg/m2 and obesity: BMI ≥30,0 Kg/m2), smoking and physical exercise scheduled. The program was used SARA-version 2.1.12 for consumption and SPSS 19.0 by calculating average, standard deviation and ranges. We calculated median test, tests or x2 of Fisher and correlation of Pearson or Spear-man as sample size. The level of statistical significance was set at p<0,05...(AU)


Subject(s)
Humans , Female , Middle Aged , Body Weight , Feeding Behavior , Menopause , Weight Gain , Argentina , Cross-Sectional Studies/standards , Observational Study
19.
Springerplus ; 3: 676, 2014.
Article in English | MEDLINE | ID: mdl-25520906

ABSTRACT

The aim of this study was to evaluate the effect of strontium ranelate (SrR) on bone mineral density (BMD) and bone turnover markers after 1 year of treatment. Additionally, the effect of SrR in bisphosphonate-naïve patients (BP-naïve) compared to patients previously treated with bisphosphonates (BP-prior) was analyzed. This retrospective study included 482 postmenopausal women treated with SrR (2 g/day) for 1 year in ten Argentine centers; 41 patients were excluded due to insufficient data, while 441 were included. Participants were divided according to previous bisphosphonate treatment in two groups: BP-naïve (n = 87) and BP-prior (n = 350). Data are expressed as mean ± SEM. After 1 year of treatment with SrR the bone formation markers total alkaline phosphatase and osteocalcin were increased (p < 0.0001), while the bone resorption marker s-CTX was decreased (p = 0.0579). Also increases in BMD at the lumbar spine (LS, 3.73%), femoral neck (FN, 2.00%) and total hip (TH, 1.54%) [p < 0.0001] were observed. These increments were significant (p < 0.0001) both among BP-naïve and BP-prior patients. Interestingly, the change in BMD after 1 year of SrR treatment was higher in BP-naïve patients: LS: BP-naïve = 4.58 ± 0.62%; BP-prior = 3.45 ± 0.28% (p = 0.078). FN: BP-naïve = 2.79 ± 0.56%; BP-prior = 2.13 ± 0.29% (p = 0.161). TH: BP-naïve = 3.01 ± 0.55%; BP-prior = 1.22 ± 0.27% (p = 0.0006). SrR treatment increased BMD and bone formation markers and decreased a bone resorption marker in the whole group, with better response in BP-naïve patients.

20.
J Med Econ ; 17(10): 751-61, 2014 Oct.
Article in English | MEDLINE | ID: mdl-25061766

ABSTRACT

OBJECTIVES: To understand the impact of nocturnal and daytime non-severe hypoglycemic events on healthcare systems, work productivity and quality of life in people with type 1 or type 2 diabetes. METHODS: People with diabetes who experienced a non-severe hypoglycemic event in the 4 weeks prior to the survey were eligible to participate in a nocturnal and/or daytime hypoglycemia survey. Surveys were conducted in Argentina, Australia, Brazil, Israel, Mexico and South Africa. RESULTS: In total, 300 respondents were included in nocturnal/daytime hypoglycemia surveys (50/participating country/survey). All respondents with type 1 diabetes and 68%/62% (nocturnal/daytime) with type 2 diabetes were on insulin treatment. After an event, 25%/30% (nocturnal/daytime) of respondents decreased their insulin dose and 39%/36% (nocturnal/daytime) contacted a healthcare professional. In the week after an event, respondents performed an average of 5.6/6.4 (nocturnal/daytime) additional blood glucose tests. Almost half of the respondents (44%) reported that the event had a high impact on the quality of their sleep. Among nocturnal survey respondents working for pay, 29% went to work late, 16% left work early and 12% reported missing one or more full work days due to the surveyed event. In addition, 50%/39% (nocturnal/daytime) indicated that the event had a high impact on their fear of future hypoglycemia. CONCLUSIONS: The findings suggest that nocturnal and daytime non-severe hypoglycemic events have a large financial and psychosocial impact. Diabetes management that minimizes hypoglycemia while maintaining good glycemic control may positively impact upon the psychological wellbeing of people with diabetes, as well as reducing healthcare costs and increasing work productivity.


Subject(s)
Diabetes Mellitus/drug therapy , Hypoglycemia/economics , Hypoglycemia/psychology , Hypoglycemic Agents/adverse effects , Adult , Blood Glucose , Female , Humans , Hypoglycemia/chemically induced , Hypoglycemic Agents/therapeutic use , Male , Middle Aged , Quality of Life
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