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2.
Br J Haematol ; 176(2): 309-314, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27766631

RESUMO

Although pulmonary function abnormalities in thalassaemia major (TM) were described in 1980, the pathogenetic mechanism is not clear and data are contradictory, probably because of study heterogeneity and the multifactorial nature of the pathogenesis. We retrospectively analysed 73 adult TM patients to evaluate the prevalence of pulmonary dysfunction in adult TM and investigate relationships with iron load. All patients underwent body plethysmography and carbon monoxide diffusion (DLCO) was assessed in 63, in addition to blood tests, echocardiogram and T2* myocardial and liver magnetic resonance imaging. Restrictive lung disease was present in 26 (35·6%) patients. Serum ferritin levels were higher in patients with restrictive pattern (1526 µg/l vs. 975 µg/l, P = 0·05). Restrictive lung disease did not correlate with cardiac or liver iron overload. However, considering only patients with serum ferritin >2500 µg/l, those with restrictive pattern also had heart (T2* 14·28 ± 9·99 ms vs. 31·59 ± 7·43 ms) and liver iron overload (LIC 16·02 ± 8·44 mg vs. 5·02 ± 2·69 mg Fe/g dry weight) compared to those without restrictive pattern. Twenty-five patients (39·7%) had decreased DLCO. No correlation was observed with iron parameters. In our data restrictive pattern was predominant; we observed a relationship with serum ferritin levels suggesting that iron, particularly its chronic effect, could play a role in the pathogenesis of pulmonary disease.


Assuntos
Ferro/metabolismo , Pneumopatias/etiologia , Talassemia beta/complicações , Adulto , Monóxido de Carbono/sangue , Feminino , Ferritinas/sangue , Humanos , Sobrecarga de Ferro/complicações , Masculino , Pletismografia Total , Prevalência , Estudos Retrospectivos , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia
6.
Auris Nasus Larynx ; 51(2): 271-275, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37903661

RESUMO

OBJECTIVE: The role of iron chelation in causing hearing loss (HL) is still unclear. The present study assessed the prevalence of HL among transfusion-dependent thalassemia (TDT) patients who underwent audiological follow-up over a 20-year period. METHODS: We retrospectively analyzed clinical records and audiological tests from January 1990 (T0) to December 2022 (T22) of a group of TDT patients who received iron chelation therapy with deferoxamine (DFO), deferiprone (DFP) or deferasirox (DFX), in monotherapy or as part of combination therapy. RESULTS: A total of 42 adult TDT patients (18 male, 24 female; age range: 41-55 years; mean age: 49.2 ± 3.7 years) were included in the study. At the T22 assessment, the overall prevalence of sensorineural HL was 23.8 % (10/42). When patients were stratified into two groups, with and without ototoxicity, no differences were observed for sex, age, BMI, creatinine level, pre-transfusional hemoglobin, start of transfusions, cardiac or hepatic T2 MRI; only ferritin serum values and duration of chelation were significantly higher (p = 0.02 and p = 0.01, respectively) in patients with hearing impairment in comparison to those with normal hearing. CONCLUSION: This study with long-term follow-up suggests that iron chelation therapy might induce ototoxicity; therefore, a long and accurate audiological follow-up should be performed in TDT patients.


Assuntos
Sobrecarga de Ferro , Ototoxicidade , Talassemia beta , Adulto , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Talassemia beta/complicações , Talassemia beta/tratamento farmacológico , Talassemia beta/epidemiologia , Deferasirox/uso terapêutico , Deferiprona/uso terapêutico , Desferroxamina/uso terapêutico , Sobrecarga de Ferro/tratamento farmacológico , Sobrecarga de Ferro/epidemiologia , Sobrecarga de Ferro/etiologia , Seguimentos , Estudos Retrospectivos , Ototoxicidade/complicações , Ototoxicidade/tratamento farmacológico , Benzoatos/uso terapêutico , Triazóis/uso terapêutico , Piridonas/uso terapêutico , Quelantes de Ferro/uso terapêutico , Ferro/uso terapêutico , Audição
7.
Intern Emerg Med ; 14(3): 365-370, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-29948832

RESUMO

Heart disease remains a leading cause of morbidity and mortality in transfusion-dependent thalassemia (TDT), which can be attributed to several factors but primarily develops in the setting of iron overload. This was a retrospective cohort study utilizing Webthal® patient data from five major centers across Italy. Patients without heart disease were followed-up for 10 years (2000-2010) and data were collected for demographics, splenectomy status, serum ferritin and hemoglobin levels, and comorbidities associated with heart disease. Among 379 patients analyzed (mean age 22.9 ± 5.1 years, 47.8% men), 44 (cumulative incidence: 11.6%) developed heart disease during the period of observation. Splenectomy (p = 0.002) and serum ferritin level (p < 0.001) were the only risk factors with significant association with heart disease. A serum ferritin threshold of ≥ 3000 ng/mL was the best predictor for the development of heart disease (86.4% sensitivity and 92.8% specificity, AUC: 0.912, 95% CI 0.852-0.971, p < 0.001). On multivariate analysis, only a serum ferritin level ≥ 3000 ng/mL remained significantly and independently associated with increased risk of heart disease (HR: 44.85, 95% CI 18.85-106.74), with a 5- and 10-year heart disease-free survival of 58 and 39%. The association between iron overload and heart disease in patients with TDT is confirmed, yet a new serum ferritin level of 3000 ng/mL to flag increased risk is suggested.


Assuntos
Ferritinas/análise , Cardiopatias/complicações , Talassemia/complicações , Talassemia/terapia , Adolescente , Adulto , Área Sob a Curva , Transfusão de Sangue/métodos , Transfusão de Sangue/tendências , Distribuição de Qui-Quadrado , Criança , Estudos de Coortes , Feminino , Ferritinas/efeitos adversos , Ferritinas/sangue , Cardiopatias/fisiopatologia , Humanos , Itália , Masculino , Curva ROC , Estudos Retrospectivos , Fatores de Risco , Análise de Sobrevida , Talassemia/fisiopatologia
8.
J Cardiovasc Med (Hagerstown) ; 18(4): 244-248, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27136700

RESUMO

BACKGROUND: Type 1 Gaucher disease (GD1) is the most common lysosomal disorder, characterized by the accumulation of beta-glucocerebroside into the macrophages of several organs. Cardiac involvement is rare and referred to as restrictive cardiomyopathy, pulmonary hypertension, and calcifications of the valves and the aortic arch. AIM: To assess the cardiovascular status by cardiac magnetic resonance, including evaluation of tissue characterization, in GD1 patients. METHODS: Nine GD1 patients were recruited at the Tertiary Care Centre for Rare Diseases at Ca' Granda Foundation IRCCS Hospital, Milan. The patients' records were available for a mean time of 6 ±â€Š3 years. Medical history of cardiac disease and cardiovascular risk factors were surveyed by direct interview. Patients were scanned with a 1.5 Avanto Siemens using a comprehensive cardiovascular evaluation protocol, including morphologic and functional sequences with gadolinium contrast media, to assess early and late enhancement (late gadolinium enhancement). Echocardiography was performed to study the cardiac morphology and function, including the measurement of pulmonary pressure. RESULTS: Three patients showed left atrial enlargement, one patient showed moderate aortic stenosis in bicuspid valve with mild aortic dilatation, and one patient showed moderate mitral regurgitation. No evidence of myocardial late gadolinium enhancement was detected after gadolinium contrast media. Seven patients received enzyme replacement therapy for a median of 1 year, and two patients were evaluated at diagnosis. CONCLUSION: Although cardiac disease in Gaucher disease is considered rare and associated with particular genotypes, we have found two valvular diseases and mild left atrial enlargement in three out of nine patients. Further studies to evaluate the prognostic value of these findings are warranted.


Assuntos
Estenose da Valva Aórtica/diagnóstico por imagem , Cardiomegalia/diagnóstico por imagem , Doença de Gaucher/complicações , Imagem Cinética por Ressonância Magnética , Insuficiência da Valva Mitral/diagnóstico por imagem , Adulto , Valva Aórtica/diagnóstico por imagem , Valva Aórtica/fisiopatologia , Estenose da Valva Aórtica/etiologia , Estenose da Valva Aórtica/fisiopatologia , Cardiomegalia/etiologia , Cardiomegalia/fisiopatologia , Meios de Contraste/administração & dosagem , Ecocardiografia , Terapia de Reposição de Enzimas , Feminino , Doença de Gaucher/diagnóstico , Doença de Gaucher/tratamento farmacológico , Glucosilceramidase/uso terapêutico , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Valva Mitral/diagnóstico por imagem , Valva Mitral/fisiopatologia , Insuficiência da Valva Mitral/etiologia , Insuficiência da Valva Mitral/fisiopatologia , Compostos Organometálicos/administração & dosagem , Valor Preditivo dos Testes , Volume Sistólico , Centros de Atenção Terciária , Fatores de Tempo , Resultado do Tratamento , Função Ventricular Esquerda , Função Ventricular Direita
9.
Intern Emerg Med ; 12(6): 799-809, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28456904

RESUMO

Traditional echocardiography is unable to detect neither the early stages of iron overload cardiomyopathy nor myocardial iron deposition. The aim of the study is to determine myocardial systolic strain indices in thalassemia major (TM), and assess their relationship with T2*, a cardiac magnetic resonance index of the severity of cardiac iron overload. 55 TM cases with recent cardiac magnetic resonance (CMR-T2*) underwent speckle tracking analysis to assess regional myocardial strains and rotation. The results were compared with a normal control group (n = 20), and were subsequently analyzed on the basis of the CMR-T2* values. Two TM groups were studied: TM with significant cardiac iron overload ("low" T2*, ≤20 ms; n = 21), and TM with normal T2* values ("normal" T2*, >20 ms; n = 34). TM patients show significant, uniform decrease in circumferential and radial strain (P < 0.05), and a remarkable reduction in end-systolic rotation, both global, and for all segments (P < 0.001). No significant differences were found between the low- and the normal T2* group either in regional strains and rotation or in standard echocardiographic and CMR parameters. Spearman's correlation coefficient shows no significant correlation between myocardial strains, rotation and cardiac T2* values. In conclusion, our results are in accordance with recent evidence that myocardial iron overload is not the only mechanism underlying iron cardiomyopathy in TM. Strain imaging can predict subclinical myocardial dysfunction irrespective of CMR-T2* values, although it cannot replace CMR-T2* in assessing cardiac iron overload. Finally, it might be useful to appropriately time cardioactive treatment.


Assuntos
Cardiomiopatias/diagnóstico , Ecocardiografia/métodos , Sobrecarga de Ferro/diagnóstico , Vigilância da População/métodos , Adulto , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia
10.
Blood Press ; 12(3): 175-80, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12875480

RESUMO

Electrical stimulation of rostromedial portion of cerebellar fastigial nucleus elicits integrated cardiovascular effects, which are neurally and humorally mediated. In this study, we sought to demonstrate the anatomical substrates of the fastigial pressor response (FPR) in the rat. The response was electrophysiologically localized in anesthetized, paralyzed-ventilated rats. Anterograde transport techniques were used to study the efferent projections of the fastigial pressor area; the distribution of efferent projection cells were then mapped by injecting retrograde tracers into anterogradely labeled sites. Electrolytic lesions were then placed bilaterally in selected brainstem areas in the attempt to block the pressor response. Sites of cerebellar stimulation and of brainstem lesions were subsequently histologically identified. The following lesions abolished the FPR: in nine animals lesions involved portions of the nucleus gigantocellularis dorsalis (NGCd), paramedian reticular formation (PMN) and the nucleus tractus solitarii (NTS) (in two animals fairly selectively the caudal NTS); in two other animals lesions destroyed the rostral ventrolateral medulla (C1 area) and in one animal the area encompassing the dorsal convexity of the superior cerebellar peduncle bordering the locus coeruleus-lateral parabrachial complex; partially effective were unilateral lesions of NGCd and NTS (three), bilateral lesions confined to NGCd and PMN (two), to vestibular complex and uncinate fasciculus (UF) (three), to UF and locus coeruleus (three) and to nucleus reticularis ventralis (two). Ineffective lesions involved A1 area, the nucleus gigantocellularis ventralis (NGCv), the spinal trigeminal nucleus and nucleus reticularis parvocellularis, the A5 area of the ventrolateral pons, the central gray and lateral mesencephalic tegmentum. It seems therefore that the pressor response elicited by stimulation of the cerebellar fastigial nucleus utilizes central specific pathways, as lesions involving other brainstem regions also known to participate in cardiovascular control do not affect the response. Furthermore, the FPR persisted after midbrain decerebration, thus demonstrating that it is organized beneath the midbrain.


Assuntos
Pressão Sanguínea/fisiologia , Núcleos Cerebelares/anatomia & histologia , Núcleos Cerebelares/fisiologia , Animais , Tronco Encefálico/lesões , Fenômenos Fisiológicos Cardiovasculares , Estimulação Elétrica , Ratos
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