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 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Growth, sexual development, fertility, bone mineral density, diabetes mellitus, hypothyroidism, hypoparathyroidism, and hypoadrenalism are the main issues to be addressed in the long-term follow-up of patients with thalassemia. During childhood, growth may be affected by anemia, and other potential endocrine complications. Puberty is the stage of the maximal growth insult. Beta thalassemia is associated with bone abnormalities characterized by bone marrow expansion of the medullary cavity, and osteopenia with cortical thickening and trabecular coarsening. Good nutrition with adequate vitamins and trace elements intake, along with calcium and vitamin D supplementation, can increase bone density and prevent bone loss. Endocrine abnormalities should be monitored carefully and a thorough endocrine evaluation should be carried out yearly in every patients to detect subclinical endocrinopaties.
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PMID:Endocrine complications of thalassemia. 1171 58

Until recently, infectious diseases and malnutrition-related disorders constituted the major cause of ill health and mortality in the world population. However, advances in treatment of such disorders and increased understanding of the molecular basis of heredity have led to genetically transmitted conditions becoming a major cause of morbidity and mortality. Several disorders, including chromosomal (Down syndrome, Turner syndrome), single-gene (sickle-cell disease, thalassaemia, glucose-6-phosphate dehydrogenase deficiency, haemophilia, inborn errors of metabolism) and multifactorial disorders (coronary artery disease, arteriosclerosis, diabetes mellitus, hypertension, obesity) are common and becoming increasingly important. As there is no agreed-upon definitive cure with acceptable risk, these disorders are a significant burden on the health care delivery system. This is because the chronic nature of genetic diseases requires lifelong medical attention, expensive supportive and symptomatic therapy and specialist care. This review outlines the genetic disorders, their impact on health care delivery systems and the general framework required to prevent and control these disorders.
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PMID:Spectrum of genetic disorders and the impact on health care delivery: an introduction. 1192 97

The family planning program is not restricted to population control; it also aims at the wider aspect of family welfare and human health. A large number of human diseases are due to genetic abnormalities. Examples are mongolism (Down's syndrome), ovarian dysgenesis (Turner's syndrome), nonfunctional testes (Klinefelter's syndrome), chronic myeloid leukemia, anemia, thalassemia, congenital malformations, and schizophrenia. Mental defects include imbeciles and the feebleminded. Constitutional diseases include diabetes, idiopathic epilepsy, pernicious anemia, and some thyroid abnormalities. Some chronic diseases also have a significant genetic component in their etiology, such as asthma and other allergies. About half of the stillbirths and embryonic wastage are suspected of being due to genetic malformations. Consanguinity has an important bearing on malformations and developmental anomalies. In India, where consanguinity is more frequent, malformations per 1000 births were 8.6 and 3.1 in 2 centers studied. Neural tube defects, harelip, cleft palate, and malformations of the gut and of limbs were prevalent. The population that needs genetic counseling is not large. Persons suffering from hereditary dise ases having a high risk of transmission should be advised to refrain fro m having children. A correct diagnosis, complete family history, and kn owledge of the literature on inherited disease is needed by the counselo rs. Family planning programs should include genetic counseling.
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PMID:Genetic counselling in family planning. 1225 20

The purpose of this review is to report the personal experience on growth and pubertal development in a large number of thalassaemic and ex-thalassaemic patients followed at the Pediatric and Adolescent Unit of Ferrara. Secondary amenorrhoea (SA), hypogonadism and short stature are the commonest endocrine and auxological complications. The anterior pituitary gland is particularly sensitive to free radical oxidative stresses and exposure to this. Magnetic resonance imaging (MRI) shows that even a modest amount of iron deposition within the anterior pituitary can interfere with its function. Other possible cause of hypogonadism in beta-thalassaemia major include liver disorders, chronic hypoxia, diabetes mellitus and zinc deficiency. The treatment of pubertal disorders consists of hormone replacement therapy with sex steroids. Successful induction of spermatogenesis and ovulation has been reported after hormonal stimulation with gonadotrophins. Height above the 10th centile was achieved in 50% of males and 64% of females. Eight prepubertal thalassaemic patients, 6 males and 2 females, ranging in age from 8.6 to 11.7 years, were treated with GH. After the first 12 months of GH treatment a significant increase of growth velocity was observed in 6 patients who doubled growth velocity before basal value (4 cm or more above the basal value), 2 patients had a partial response (2-4 cm above the basal value). In the following 3 years all thalassaemic patients had a partial response to the treatment with GH. These data indicate that despite somewhat reduced sensitivity to GH, compared to GH deficiency children, there is evidence indicating that thalassaemic patients may benefit from GH treatment. Sixty-eight thalassaemic patients (30 males and 38 females) who had successfully undergone bone marrow transplantation (BMT) during childhood were studied. Following BMT growth rate decelerated when compared to Tanner and Whitehouse standards. Twenty-nine ex-thalassaemics reached final height. The patterns of growth during puberty was variable in ex-thalassaemic males, while in all but 3 ex-thalassaemic females we observed an improvement in the percentile of standing height. A gonadal dysfunction was found in 68% of ex-thalassaemic patients. Since the quality of life of these patients is an important aim, it is vital to monitor carefully the growth and pubertal development in order to detect abnormalities and to initiate appropriate and early treatment.
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PMID:Growth and puberty and its management in thalassaemia. 1237 18

Endocrine disturbances, notably diabetes, have been well described as a complication of iron overload due to hereditary hemochromatosis and beta-thalassemia. Dysfunction of the hypothalamic-pituitary-adrenal (HPA) axis has also been well documented. The pattern of iron loading in African iron overload with saturated transferrin is similar to that seen in hereditary hemochromatosis. In addition, many symptoms ascribed to pituitary dysfunction are common to both conditions. The present study was undertaken to assess whether a similar pattern of endocrine dysfunction occurs in African iron overload. Thirty subjects with African iron overload and transferrin saturation >50%, plus 30 age and sex matched normal controls were studied. An iron profile, fasting plasma glucose, cortisol, DHEA-S, LH, FSH, growth hormone, prolactin, TSH, and FT4 levels were measured in all 60 subjects as well as testosterone in the males and estradiol in the females. Iron loading in the subjects with increased transferrin saturation ranged from moderate to severe. No significant differences were found in the mean testosterone, estradiol, LH, DHEA-S, growth hormone, prolactin, or TSH levels between the subjects and normal controls. In female subjects, although within the normal range, the mean FSH level was significantly higher, probably due to their being somewhat older and in a more advanced stage of menopause than the control females. Mean cortisol concentrations were increased in both genders in the patient group, significantly so in the females; however, values were within the reference range. We conclude therefore that there appears to be no major impairment of endocrine function in the basal state in African iron overload subjects with moderate to severe degrees of iron loading.
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PMID:Basal endocrine status in African dietary iron overload. 1451 8

Total cholesterol, triglycerides (TG), LDL-cholesterol, HDL-cholesterol, alpha-lipoprotein (LP) (HDL-LP), pre-beta-LP (VLDL-LP) and beta-lipoprotein (LDL-LP) were measured in the blood of 104 patients with major and intermedia form of beta-thalassaemia and 112 control subjects, mean age +/- SD 10.2 +/- 3.5 and 9.1 +/- 3.8 years, respectively. Cholesterol, LDL- and HDL-cholesterol were significantly decreased and TG was significantly increased in the patients compared to the control subjects. TG values in male patients were significantly higher than in male control subjects, but no differences were found in females. Patients with major and intermedia forms of beta-thalassaemia and chronic hepatitis C have significantly lower values of cholesterol and beta-LP and higher values of HDL-cholesterol than patients without hepatitis C. An increase of HDL-cholesterol and alpha-LP was found in patients with diabetes mellitus or impaired glucose tolerance (IGT) compared to patients without IGT. In the thalassaemic patients there was an increase of TG and pre-beta-LP and a decrease of HDL-cholesterol and alpha-LP with increasing ferritin values. There was a positive correlation of the patients' age with TG and pre-beta-LP whereas no such correlation was found in the control subjects. It appears, therefore, that many factors as iron overload, liver injury, hormonal disturbances and aging affects lipids and LP pattern in patients with major and intermedia form of beta-thalassaemia.
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PMID:beta-Thalassaemia and factors affecting the metabolism of lipids and lipoproteins. 1465 51

This was the sixth in a series of symposia that began in Beijing, China in 1986. Approximately 100 chemists, environmental and biomedical scientists from 25 countries attended the meeting and presented some 80 papers on topics ranging from cancer chemotherapy to the production of paper. About half the papers presented could be broadly described as having medical implications, and of these, approximately half related directly to the use of platinum and the potential uses of other metals, such as palladium and the lanthanides, as anticancer agents. Many of these papers provided valuable insights into mechanisms of action and offered pointers for future research, but only rarely did they point to potential new drugs that might find early exploitation in clinical medicine. Two of the more exciting clinical developments were the introduction of the insulin-mimetic bis(maltolato)oxovanadium(IV) (KP-102; Kinetek Pharmaceuticals Inc/University of British Columbia) into clinical trials in the UK for the treatment of Type II diabetes, and the increasing importance of the orally active agent 3-hydroxy-pyridin-4-one-deferiprone (Apotex Inc/Cipla Ltd), in the treatment of iron overload in thalassemia.
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PMID:Royal Society of Chemistry--sixth international symposium on applied bioinorganic chemistry. 1596 42

Cronkhite-Canada Syndrome is a non-inherited, non-congenital disease characterized by juvenile hamartomatous gastrointestinal polyps with a typically late onset. In the case described herein the disease was diagnosed in a 17-year-old male with type I diabetes and thalassaemia minor, in coincidence with severe symptomatic intestinal candidiasis. Following the disappearance of the mycosis and correction of the protein and electrolyte imbalance, the ectodermal abnormalities returned to normal and the patient remained asymptomatic during a 7-year follow-up period, despite proteinuria resulting from membranous glomerulopathy. The concept that Cronkhite-Canada Syndrome is a late-onset disease should probably be reconsidered as it may remain asymptomatic, and thus not diagnosed, for a long a time.
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PMID:Is Cronkhite-Canada Syndrome necessarily a late-onset disease? 1614 64

Microcytosis is a characteristic laboratory feature for both iron deficiency anemia and thalassemia. It is also infrequently seen in "anemia of chronic disease" that accompanies a spectrum of chronic conditions including rheumatoid arthritis, polymyalgia rheumatica, diabetes mellitus, connective tissue disease, and protracted infection. In addition, there is a well established but pathogenetically obscure association of microcytosis with Hodgkin's lymphoma, Castleman's disease, and renal cell carcinoma. In the current study, we show that microcytosis is a frequent laboratory feature in agnogenic myeloid metaplasia and investigate its clinical relevance in the particular setting.
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PMID:Microcytosis in agnogenic myeloid metaplasia: prevalence and clinical correlates. 1628 7

Historically, fractures are cited as a frequent problem in patients with Thalassemia prior to optimization of transfusion and chelation regimens. The aim of this study was to determine the prevalence of fractures in a contemporary sample of North American patients with Thalassemia. The North American Thalassemia Clinical Research Network (TCRN) database registry was used to gather historical data on 702 patients with common alpha and beta-Thalassemia diagnoses including Thalassemia Major (TM), Intermedia (TI), E/Beta, homozygous alpha Thalassemia (AT), Hemoglobin H disease (HbH) and HbH with Constant Spring (HbH/CS), who consented to a medical record chart review. Bone mineral density (BMD) measurements by DXA were available for review in a subgroup of patients (n = 312). The overall fracture prevalence among all Thalassemia syndromes was 12.1%, equally distributed between females (11.5%) and males (12.7%). Fractures occurred more frequently in TM (16.6%) and TI (12.2%) compared to E/Beta (7.4%) and alpha (2.3%). Prevalence increased with age (2.5% ages 0-10 years, 7.4% ages 11-19 years, 23.2% ages >20 years) and with use of sex hormone replacement therapy (SHRT) (P < 0.01). On average, BMD Z and T scores were 0.85 SD lower among patients with a history of fractures (mean Z/T score -2.78 vs. -1.93, 95% CI for the difference -0.49 to -1.22 SD, P = 0.02). Presence of other endocrinopathies (i.e. hypothyroidism, hypoparathyroidism and diabetes mellitus), anthropometric parameters, heart disease or hepatitis C were not significant independent predictors of fractures. These data indicate that fractures remain a frequent complication among the aging patients with both TM and TI beta-Thalassemia. However, the fracture prevalence has improved compared to published reports from the 1960s to 1970s. In addition, children with Thalassemia appear to have low fracture rates compared to the general population.
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PMID:Prevalence of fractures among the Thalassemia syndromes in North America. 1629 78


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