Survival and Complications in Thalassemia BORGNA-PIGNATTI, C.; CAPPELLINI, M. D.; DE STEFANO, P. ...
Annals of the New York Academy of Sciences,
November 2005, Letnik:
1054, Številka:
1
Journal Article
Recenzirano
: The life expectancy of patients with thalassemia major has significantly increased in recent years, as reported by several groups in different countries. However, complications are still frequent ...and affect the patients' quality of life. In a recent study from the United Kingdom, it was found that 50% of the patients had died before age 35. At that age, 65% of the patients from an Italian long‐term study were still alive. Heart disease is responsible for more than half of the deaths. The prevalence of complications in Italian patients born after 1970 includes heart failure in 7%, hypogonadism in 55%, hypothyroidism in 11%, and diabetes in 6%. Similar data were reported in patients from the United States. In the Italian study, lower ferritin levels were associated with a lower probability of experiencing heart failure and with prolonged survival. Osteoporosis and osteopenia are common and affect virtually all patients. Hepatitis C virus antibodies are present in 85% of multitransfused Italian patients, 23% of patients in the United Kingdom, 35% in the United States, 34% in France, and 21% in India. Hepatocellular carcinoma can complicate the course of hepatitis. A survey of Italian centers has identified 23 such cases in patients with a thalassemia syndrome. In conclusion, rates of survival and complication‐free survival continue to improve, due to better treatment strategies. New complications are appearing in long‐term survivors. Iron overload of the heart remains the main cause of morbidity and mortality.
Positional plagiocephaly (PP) denotes flattening of the skull that occurs frequently in healthy infants. Aim of this study was to estimate the prevalence of positional plagiocephaly and to identify ...the risk factors in a cohort of healthy infants in order to help prevention of PP. In a prospective design, all healthy full-term infants, ranging from 8 to 12 weeks of age, who presented at the public immunization clinic in Ferrara, were eligible for the study. After obtaining informed consent, we interviewed the parents and examined the infants using the Argenta’s assessment tool. Of 283 infants examined, 107 (37.8%) were found to have PP at 8–12 weeks of age. In 64.5%, PP was on the right side, 50.5% were male and 15% presented also with brachycephaly. Risk factors significantly associated were lower head circumference, advanced maternal age, Italian compared to African, and supine sleep position, in particular for infants born at 37 weeks, preference for one side of the head. In logistic regression, risk factors significantly associated were lower birth weight, advanced maternal age, and supine sleep position.
Conclusions
: Positional plagiocephaly is a common issue faced by pediatricians; our results reinforce the need of improving prevention both of sudden infant death and positional plagiocephaly, through uniform messages provided prenatally and postnatally by different health professionals.
“What is Known:”
•
The incidence of positional plagiocephaly varies due to population studied and measuring methods.
•Different factors are considered in the literature as being associated to positional plagiocephaly (infant factors, obstetric factors, infant care practices, sociodemographic factors).
“What is New:”
•This is one of the few European studies quantifying positional plagiocephaly prevalence in a population of unselected healthy infants.
•In this study, positional plagiocephaly is confirmed as a common issue, related to some factor (as supine sleep position and positional head prevalence) that should be addressed in pre and postnatal counseling.
•The prone sleepers rate in our population highlight the need to improve parental awareness regarding SIDS prevention, in particular in borderline gestational age.
Deferoxamine (DFO) therapy has been associated with improved survival of thalassemia patients. However, cardiac disease remains the main cause of death in those patients. In 1995, the oral chelator ...deferiprone became available for clinical use. We compared the occurrence of cardiac disease in patients treated only with DFO and in those whose therapy was switched to deferiprone during the period of observation, from January 31, 1995, to December 31, 2003. All patients with thalassemia major treated in 7 Italian centers who were born between 1970 and 1993 and who had not experienced a cardiac event prior to January 1995 were included. DFO only was given to 359 patients, and 157 patients received deferiprone for part of the time. A total of 3610 patient-years were observed on DFO and 750 on deferiprone. At baseline, the 2 groups were comparable for age and sex, while ferritin levels were significantly higher in patients switched to deferiprone. Fifty-two cardiac events, including 10 cardiac deaths, occurred during therapy with DFO. No cardiac events occurred during deferiprone therapy or within at least 18 months after the end of it. In the setting of a natural history study, deferiprone therapy was associated with significantly greater cardiac protection than deferoxamine in patients with thalassemia major.
Hepatocellular carcinoma in the thalassaemia syndromes Borgna‐Pignatti, Caterina; Vergine, Gianluca; Lombardo, Turi ...
British journal of haematology,
January 2004, 2004, 2004-Jan, 2004-01-00, 20040101, Letnik:
124, Številka:
1
Journal Article
Recenzirano
Odprti dostop
Summary
Hepatocellular carcinoma (HCC) frequently complicates hepatic cirrhosis secondary to viral infection or iron overload. Therefore, patients affected by thalassaemia syndromes have a ...theoretically high risk of developing the tumour. We collected data on patients attending Italian centres for the treatment of thalassaemia. Twenty‐two cases of HCC were identified; 15 were male. At diagnosis, the mean age was 45 ± 11 years and the mean serum ferritin was 1764 ± 1448 μg/l. Eighty‐six percent had been infected by hepatitis C virus. Nineteen of 22 cases were diagnosed after 1993, suggesting that this problem is becoming more frequent with the aging population of thalassaemia patients.
Background and purpose
It has been demonstrated that inflammation may contribute to epileptogenesis and cause neuronal injury in epilepsy. In this study, the prevalence of antibodies to simian virus ...40 (SV40), a kidney and neurotropic polyomavirus, was investigated in serum samples from 88 epileptic children/adolescents/young adults.
Methods
Serum antibodies reacting to specific SV40 peptides were analysed by indirect enzyme‐linked immunosorbent assay. Synthetic peptides corresponding to the epitopes of viral capsid proteins 1–3 were used as SV40 antigens.
Results
A significantly higher prevalence of antibodies against SV40 was detected in sera from epileptic patients compared to controls (41% vs. 19%). Specifically, the highest significant difference was revealed in the cohort of patients from 1.1 to 10 years old (54% vs. 21%), with a peak in the sub‐cohort of 3.1–6 years old (65% vs. 18%).
Conclusion
Our immunological data suggest a strong association between epilepsy and the SV40 infection.
Andrea wakes up late, because the night before he went to a party with his girlfriend. He disconnects the needle and puts his desferal pump in the drawer. Then he rushes to work: he’s a computer ...designer and his job is quite safe, because it was granted under the law protecting thalassemia patients and other people with medical problems. Nevertheless he does not want to irritate his boss. Besides, in a few days, he will be absent, and work will pile up, as he needs to go to the hospital for his regular blood transfusion.
Salvatore does not sleep well. He has a cast on his leg, which makes sleeping difficult. Playing football with his friends he broke a tibia, and it is not a first. Last time it was a rib, jumping from a wall in the countryside. He lost his job as a mechanic, recently, just as many people seem to be doing these days. Fortunately he has a pension, given to him because he has this blood disease and also because he was infected with hepatitis C virus as a child. But he’s also worried about his health. Iron has been accumulating in his organs over the years and the doctors have warned him that he can no longer skip chelation. He’s now faithfully gulping his deferiprone pills and at night he injects desferal with the pump. He’s determined to take his life back into his hands again.
Marisa’s morning is always difficult, with the two children to send to school (one adopted and the other conceived, unexpectedly, just one year later) and the house to clean, shopping to do and dinner that needs to be ready when her husband comes home. She takes this new chelating pill that dissolves in water, her vitamins and prophylactic antibiotics, her aspirin, and gets ready for the day. Around noon she has an appointment for her yearly check ups: audiometric tests, an ophthalmologic examination, and abdominal ultrasound. Next week it will be the turn of the MRI to check for iron in her heart and liver. Everything seems to be going well, so far. She thinks about her life: she’s satisfied with it. Who would ever have thought that she could carry on and look like a normal woman? Certainly not her mother who kept looking at her, as a child, with eyes full of tears. And now, instead … Just a pity about that ugly splenectomy scar on her belly.
: Osteoporosis and osteopenia are frequent complications of thalassemia major (TM) and intermedia (TI). Osteoporosis was found in 23/25 patients with TI and in 115/239 patients with TM. In TM, no ...association was found with specific polymorphisms in candidate genes (vitamin D receptor, estrogen receptor, calcitonin receptor, and collagen type 1 alpha 1). Osteoporosis in female patients with TM was strongly associated with primary amenorrhea (P < .0001), while in male patients with TM, hypogonadism was not significantly related to bone mineral density (BMD) (P= .0001). Low BMD was also associated with cardiomiopathy (P= .01), diabetes mellitus (P= .0001), chronic hepatitis (P= .0029), and increased ALT (P= .01).
It has been repeatedly reported that female patients with thalassemia major survive longer than males and that the difference is due to a lower rate of cardiac disease in females.
We compared the ...cardiac iron load as measured by T2* magnetic resonance imaging in 776 patients (370 males) examined at the National Research Council as part of an Italian cooperative study. We also established normal left ventricular ejection fraction values for our population.
The prevalence of cardiac disease was higher in males than in females (105 males versus 69 females; P < 0.0001). Cardiac T2* was significantly lower in patients with heart dysfunction (P < 0.0001), but no difference was observed according to sex. Twenty males and five females had a history of cardiac arrhythmias. Their cardiac T2* was not significantly lower than that of patients without arrhythmias (24 ms versus 26 ms; P = 0.381), nor was there a difference between sexes. Liver T2* was significantly lower in males and females with heart dysfunction compared to those without. Ferritin levels were higher in patients of both sexes with heart dysfunction without significant differences between males and females. Conclusions Males and females are at the same risk of accumulating iron in their hearts, but females tolerate iron toxicity better, possibly as an effect of reduced sensitivity to chronic oxidative stress.
Department of Pediatrics, University of Ferrara, Italy.bre@unife.it
BACKGROUND AND OBJECTIVES: Seven Italian centers reported data on survival, causes of death and appearance of complications in ...patients with thalassemia major. The interactions between gender, birth cohort, complications, and ferritin on survival and complications were analyzed. DESIGN AND METHODS: Survival after the first decade was studied for 977 patients born since 1960 whereas survival since birth and complication appearance was studied for the 720 patients born after 1970. Better survival was demonstrated for patients born in more recent years (p
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