RESUMO
Most of the endocrine complications in thalassaemia are attributable to iron overload which may be the result of economic circumstances (expense of the chelation therapy), late onset of chelation therapy or poor compliance with the iron chelation therapy. The major difficulties reported by hematologists or pediatric endocrinologists experienced in thalassaemias or thalassaemia syndromes in following growth disorders and endocrine complications were: lack of familiarity with medical treatment of endocrine complications (40%), interpretation of endocrine tests (30%), costs (65%), absence of paediatric endocrinologist for consultation on growth disorders and endocrine complications (27%), facilities (27%), other (e.g. lack of collaboration and on-time consultation between thalassaemic Centers supervised by hematologists and endocrinologists) (17%). Because any progress we make in research into growth disorders and endocrine complications in thalassaemia should be passed on to all those suffering from it, guaranteeing them the same therapeutic benefits and the same quality of life, on the 8th of May, 2009 in Ferrara (Italy), the International Network on Endocrine Complications in Thalassemia (I-CET) was founded. The I-CET group is planning to conduct, in Ferrara in May 2012, a workshop, "MRI and Endocrine Complications in Thalassaemia", and in Doha (Qatar) in September 2012, a 3-day intensive course entitled, "Growth disorders and Endocrine Complications in Thalassaemia", to provide interested pediatricians, physicians and hematologists from all over the world with an in-depth approach to the diagnosis and management of growth and endocrine disorders in thalassaemic patients.
Assuntos
Doenças do Sistema Endócrino/complicações , Ferro , Talassemia/complicações , Transfusão de Sangue , Terapia por Quelação , Doenças do Sistema Endócrino/patologia , Doenças do Sistema Endócrino/prevenção & controle , Humanos , Ferro/sangue , Ferro/toxicidade , Talassemia/epidemiologia , Talassemia/patologiaRESUMO
OBJECTIVE: It is suggested that iodide organification defects account for 10% of all cases with congenital hypothyroidism (CH). One candidate gene for these defects is the thyroid peroxidase (TPO) gene. DESIGN: Exons 2, 8-10 and 14 of the TPO gene were examined in 30 patients with permanent CH without a family history of CH. This group was characterized by the presence of an orthotopic thyroid gland and elevated TSH levels. METHODS: The mutational screening was performed by single-strand conformational polymorphism followed by sequence analysis of fragments with abnormal migration patterns and by restriction enzyme analysis. RESULTS: In four patients we were able to identify mutations on both alleles which have not been described so far. One patient was a carrier of a new homozygous point mutation in exon 9 resulting in an exchange from Leu to Pro at codon 458. Another patient was found to be compound heterozygous for two mutations, a 20 bp duplication in exon 2 and a new mutation in exon 9 (Arg491His). Two brothers of consanguineous parents showed a homozygous T deletion in exon 14 at position 2512. CONCLUSIONS: Our findings confirm the genetic heterogeneity of TPO defects and support the suggested prevalence of organification defects.
Assuntos
Hipotireoidismo Congênito , Iodeto Peroxidase/genética , DNA/química , DNA/isolamento & purificação , Eletroforese em Gel de Ágar , Feminino , Humanos , Hipotireoidismo/enzimologia , Hipotireoidismo/genética , Lactente , Iodeto Peroxidase/química , Masculino , Mutação de Sentido Incorreto/genética , Linhagem , Mutação Puntual/genética , Reação em Cadeia da Polimerase , Polimorfismo Conformacional de Fita Simples , Análise de Sequência de DNA , Tireoglobulina/sangue , Tireotropina/sangue , Tiroxina/sangueRESUMO
The challenge to eradicate iodine deficiency disorders (IDD) by the year 2000 worldwide will have positive consequences for more than 20 million people suffering from IDD. This is the main and common goal for the developing but also for a lot the developed countries. Sensitive tools like neonatal thyroid screening (NTS) can be used in order to make changes in iodine supplementation more transparent and to have a dynamic target oriented approach. The comparison between six districts in Bulgaria and Berlin revealed despite of some positive changes after the fortification of the iodine supplementation program still existing iodine deficiency in Bulgaria which is more profound than in Berlin in 1990. The shift to higher TSH-values in the Black-Sea region, classified by goitre-prevalence in 1956 as non-endemic for iodine deficiency, needs further investigation. Besides of iodine deficiency an influence of iodine-containing disinfectants and/or goitrogens is possible.
Assuntos
Iodo/administração & dosagem , Triagem Neonatal , Tireotropina/sangue , Berlim , Bulgária , Doenças Endêmicas , Bócio/epidemiologia , Bócio/etiologia , Bócio/prevenção & controle , Humanos , Recém-Nascido , Iodo/deficiênciaRESUMO
The acute effect of 10 mg metoclopramide i.v. on prolactin and aldosterone levels was studied in 8 women with prolactinoma and 8 normal women. The prolactin response to metoclopramide was blunted in hyperprolactinemic patients in comparison with controls. Metoclopramide induced similar aldosterone increases in patients and controls, but hyperprolactinemic women showed a more sustained aldosterone response. Bromocriptine treatment (10 mg daily p.o. for 5 days) in patients with prolactinoma completely suppressed the prolactin response to metoclopramide and the aldosterone response curve was very similar to that of controls. The results did not exclude some degree of suppression of aldosterone in response to bromocriptine.
Assuntos
Aldosterona/sangue , Bromocriptina/uso terapêutico , Agonistas de Dopamina/uso terapêutico , Antagonistas de Dopamina/farmacologia , Metoclopramida/farmacologia , Neoplasias Hipofisárias/tratamento farmacológico , Prolactinoma/tratamento farmacológico , Adulto , Estudos de Casos e Controles , Interações Medicamentosas , Feminino , Humanos , Neoplasias Hipofisárias/sangue , Prolactina/sangue , Prolactinoma/sangue , Radioimunoensaio , Valores de ReferênciaRESUMO
The acute effect of metoclopramide on aldosterone and prolactin levels were studied in 8 control subjects and 11 patients with Cushing's disease. Metoclopramide (10 mg i.v.) induced a similar plasma prolactin response in control subjects and patients. No difference was found in basal aldosterone levels between the two groups. Apart from a more delayed aldosterone response to metoclopramide in the Cushing's disease group, no significant difference in the peak aldosterone values was found between the patients and controls. The short-term treatment with DA2-receptor agonist bromocriptine was without effect on aldosterone response to metoclopramide in the Cushing's disease group. These results argue against an altered dopaminergic control of aldosterone secretion in patients with Cushing's disease. The lack of a bromocriptine effect on aldosterone response to metoclopramide is in accordance with the concept that the dopamine receptors involved in aldosterone regulation differ from classical DA2 receptors.
Assuntos
Aldosterona/sangue , Síndrome de Cushing/sangue , Síndrome de Cushing/tratamento farmacológico , Metoclopramida/uso terapêutico , Adulto , Bromocriptina/uso terapêutico , Feminino , Humanos , Hidrocortisona/sangue , Masculino , Prolactina/sangue , RadioimunoensaioRESUMO
The effect of PGE2 on ACTH and cortisol responses to CRH was studied in 6 healthy men who received CRH i.v. during either saline or PGE2 infusions which were started 60 min. before testing. ACTH and cortisol responses to CRH were greater during PGE2 infusion compared to the control study. The results indicate that PGE2 positively modulates CRH-induced ACTH secretion.
Assuntos
Hormônio Adrenocorticotrópico/sangue , Hormônio Liberador da Corticotropina/farmacologia , Dinoprostona/farmacologia , Adulto , Humanos , Hidrocortisona/sangue , MasculinoRESUMO
The acute effects of metoclopramide on aldosterone and prolactin levels were studied in 11 normal subjects, 8 normotensive and 8 hypertensive acromegalics. Metoclopramide (10 mg i.v.) induced a similar serum aldosterone increase in normal subjects and normotensive acromegalics. Hypertensive acromegalics showed elevated basal serum aldosterone level and blunted aldosterone response to metoclopramide. The prolactin response to metoclopramide was blunted in acromegalics in comparison with normal subjects but the difference was statistically significant only in hypertensive patients. The blunted aldosterone and prolactin responses to metoclopramide in hypertensive acromegalics suggest that there is a dopamine deficiency at central and adrenal level in these patients.
Assuntos
Acromegalia/sangue , Aldosterona/sangue , Metoclopramida/farmacologia , Acromegalia/fisiopatologia , Adulto , Dopamina/deficiência , Dopamina/fisiologia , Feminino , Humanos , Hipertensão/sangue , Injeções Intravenosas , Masculino , Metoclopramida/administração & dosagem , Pessoa de Meia-Idade , Prolactina/sangueRESUMO
The hormonal responses to human corticotropin-releasing factor (hCRF) were investigated in 6 normal subjects, 13 patients with Cushing's disease (8 with diffuse bilateral hyperplasia and 5 with nodular hyperplasia) and one patient with Cushing's syndrome due to an adrenal adenoma. hCRF (100 micrograms i.v.) was a potent stimulant of ACTH and cortisol in normal subjects. Patients with Cushing's disease due to diffuse hyperplasia showed variable ACTH and cortisol responses to hCRF. In both normal subjects and in patients hCRF consistently stimulated serum aldosterone levels. Patients with nodular hyperplasia had extremely suppressed plasma ACTH levels and no responses of ACTH, cortisol and aldosterone to hCRF like in the patient with adrenal adenoma. Our results suggest that hCRF-stimulation test may be a useful tool for differentiating pituitary and adrenal forms of Cushing's syndrome.
Assuntos
Hormônio Adrenocorticotrópico/sangue , Aldosterona/sangue , Hormônio Liberador da Corticotropina/farmacologia , Síndrome de Cushing/fisiopatologia , Hidrocortisona/sangue , Adolescente , Adulto , Hormônio Liberador da Corticotropina/administração & dosagem , Síndrome de Cushing/sangue , Síndrome de Cushing/diagnóstico , Diagnóstico Diferencial , Feminino , Humanos , MasculinoRESUMO
Seven healthy male volunteers were studied at the end of 7 days placebo period and after 7 days treatment with verapamil (120 mg twice daily). Verapamil increased significantly plasma renin activity and urinary excretion of 6-keto prostaglandin F1 alpha without significant modification of plasma aldosterone. Metoclopramide (10 mg i. v.) induced a significant increase of plasma aldosterone with the peak values 15 min after the injection of the drug. The results indicate that verapamil does not lead to secondary hyperaldosteronism which is characteristic of most other vasodilators. The increase of prostacyclin, measured as 6-keto prostaglandin F1 alpha can contribute to the efficacy of verapamil in patients with ischemic heart disease and hypertension. The present study suggests that the aldosterone response to metoclopramide is not directly dependent on calcium, but an indirect effect of calcium through renin-angiotensin system cannot be excluded.
Assuntos
6-Cetoprostaglandina F1 alfa/urina , Aldosterona/sangue , Metoclopramida/farmacologia , Sistema Renina-Angiotensina/efeitos dos fármacos , Verapamil/farmacologia , Adulto , Humanos , MasculinoAssuntos
Prolactina/metabolismo , Animais , Dopamina/fisiologia , Feminino , Hormônios Esteroides Gonadais/fisiologia , Humanos , Hipotálamo/fisiologia , Periodicidade , Fatores Inibidores da Liberação da Prolactina/fisiologia , Hormônio Liberador de Tireotropina/fisiologia , Peptídeo Intestinal Vasoativo/fisiologia , Ácido gama-Aminobutírico/fisiologiaRESUMO
A schedule for individual therapeutic nutrition is proposed after a grave abdominal surgical intervention. The dietetic effect is in conformity with the changes in the biochemical processes that develop during the period of long-term fasting after a grave operation and the recovery of the changes in organism during the period after the operation. The observations were carried out on one patient. The exemplary schedule of dietetic effect could be applied to other patients as well, but after a comprehensive study on the recommended indices--the foodstuffs and energy value of the diet should be corrected and individualized.
Assuntos
Abdome/cirurgia , Nutrição Enteral , Nutrição Parenteral , Complicações Pós-Operatórias/terapia , Doença Aguda , Idoso , Dieta , Proteínas Alimentares/administração & dosagem , Ingestão de Energia , Humanos , Masculino , Necessidades Nutricionais , Complicações Pós-Operatórias/metabolismo , Cuidados Pré-OperatóriosRESUMO
The authors evaluated data from the dietary histories of 203 individuals from Sofia and Varna who had been asked identical questions. The results of this investigation show that 42% of these these individuals have no marked liking for a certain diet (group 1), 28% prefer a high protein diet (group 2), 23% are partial to a high carbohydrate diet (group 3), and 6% give preference to a high fat diet (group 4). It was found that the individuals in group 1 showed the smallest deviations from the normal values for serum lipids. Coronary symptoms were most marked in the individuals in group 4, followed by those in the groups 3, 2 and 1. It was stated that men prefer a high protein diet to a greater extent than women. Consumers of alcohol and smokers have no liking for a high carbohydrate diet. Individuals prefering fats and a high carbohydrate diet lack a daily dietary rhythm. The latter also showed marked variations in body weight, i.e., periods of weight reduction and periods of weight increase. The most favourable findings with regard to serum lipids, body weight and dietary rhythm were obtained from individuals with obvious preference for a certain diet, i. e., those with a balanced diet. The present investigation is suited as a model for a more comprehensive epidemiological study.