Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A newborn with multiple malformations, recurrent infections and hypocalcemic tetany is presented. The malformations included: Facial asymmetry, micrognathia, epicantus, low set nose, peculiar ears, club-feet and heart disease. The immunologic work-up disclosed a cellular immunodeficiency, but normal humoral immunity, and a diagnosis of "incomplete DiGeorge syndrome" was made. No thymus, nor parathyroid glands were found at autopsy. The disagreement between the analytical data and the pathological findings of "complete DiGeorge syndrome" are discussed. The existence of vestigial ectopic thymus not found in the dissected organs is considered the most likely hypothesis. Finally some considerations are made about a possible role of the rubeola virus on its etiology and the actual therapeutic possibilities.
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PMID:[Incomplete Digeorge syndrome (author's transl)]. 98 6

Idiopathic hypoparathyroidism was diagnosed in a 55-year-old patient following rather unusual circumstances: he informed the emergency ward physician attending him for congestive cardiac insufficiency consequent to coronary cardiopathy that on the two preceding occasions when such insufficiency had been relieved by the injection of a diuretic, a tetanic seizure had ensued which was corrected by intravenous administration of calcium. Treatment of the cardiac insufficiency was nonetheless instituted with the mercurial diuretic: tetany appeared a few hours later, subsiding after intravenous injection of calcium. The various possible ways in which a tetanic seizure may be triggered by a mercurial diuretic are discussed.
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PMID:[Idiopathic hypoparathyroidsm: provocation of a tetanic seizure by the injection of a mercurial diuretic]. 583 82

The anticonvulsive and antihypertensive values of magnesium (Mg) in eclampsia, and its antiarrhythmic applications in a variety of cardiac diseases, have caused Mg to be considered only for parenteral administration by many physicians. In contrast, nutritionists have long recognized Mg as an essential nutrient, because severe deficiencies elicit neuromuscular manifestations similar to those justifying its use in eclampsia. More recently, this element has been used to favorably influence latent tetany with and without thrombotic complications, to delay preterm birth, to influence premenstrual syndrome, and to ameliorate migraine headaches. Most of these disorders exclusively or largely afflict women. The lesions of arteries and heart caused by experimental Mg deficiency have been well documented and may contribute to human cardiovascular disease. Estrogen's enhancement of Mg utilization and uptake by soft tissues and bone may explain resistance of young women to heart disease and osteoporosis, as well as increased prevalence of these diseases when estrogen secretion ceases. However, estrogen-induced shifts of Mg can be deleterious when estrogen levels are high and Mg intake is suboptimal. The resultant lowering of blood Mg can increase the Ca/Mg ratio, thus favoring coagulation. With Ca supplementation in the face of commonly low Mg intake, risk of thrombosis increases.
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PMID:Interrelationship of magnesium and estrogen in cardiovascular and bone disorders, eclampsia, migraine and premenstrual syndrome. 840 7

Retarded growth in a child can be the sign of serious chronic disease. The authors present an account of a six-year-old boy where growth retardation persisted at least from the age of three. During this period his height dropped from the zone between the 25th and 50th percentile into the zone between the 3rd and 10th percentile. From the clinical point of view a large abdomen, loose stools and hypocalcaemia with tetany were striking, as they were moreover refractory to vitamin D2, calcitriol and calcium administration by the oral route. The authors revealed severe hypoproteinaemia, a 150 times increased value of alpha-1-antitrypsin in faeces, and exudative enteropathy syndrome was diagnosed. The cause was venous congestion due to a rare heart disease--cor triatriatum dextrum. The septum in the right atrium was resected. Immediately after surgery the consistency and frequency of stool decreased. Calcaemia and plasma protein levels reached normal levels within two months. A growth spurt of 11 cm/year followed. Fifteen months after operation the patient's height reached almost the 50th percentile.
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PMID:[Growth in children with the exudative enteropathy syndrome due to a congenital heart defect--cor triatriatum dextrum]. 861 82

DiGeorge Syndrome is a congenital immunodeficiency characterized clinically by hypocalcemic tetany, congenital heart disease, unusual facies, and increased susceptibility to infection. Pathologically, the syndrome is marked by the abscence or hipoplasia of the thymus and parathyroid glands as well as cardiac or aortic arch abnormalities. Most patients show partial or complete T cell immunodeficiency and normal or near-normal B-cell immunity. A review is made on a clinical case of DiGeorge syndrome is presented. A 52 days old boy, was admitted through emergency. There was no familial evidence of alcoholism or immunodeficiency. He showed irritability due to hypocalcemia. The examination revealed facial and cardiovascular abnormalities and the immunological investigation revealed hypogammaglobulinemia, deficiency of the cell, CD4 and CD8 decreased and with inverted relation. Chest X ray showed cardiomegaly grade II, and no thymus was seen. The diagnosis of the complete DiGeorge syndrome was based on the abnormalities found.
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PMID:[Immunogenetic study in a case of DiGeorge syndrome]. 929 18

Vitamin D deficiency, once thought to be eradicated, is becoming a frequent occurence in children, caused mainly by dietary insufficiency. The classical manifestation is rickets, but in infants severe hypocalcaemia may present as stridor, tetany, seizures or, rarely, heart disease. Here, we describe four infants who presented with complications of severe hypocalcaemia secondary to nutritional vitamin D deficiency. (1) Female, 4 months old, several spasms. (2) Male, 8 days old, generalised tonic-clonic seizure. (3) Male, 9 months old, tetany. (4) Male, 4 months old, cardiogenic shock. The cases highlight the importance of child vitamin D supplementation from birth and throughout childhood. We also note that the vitamin D state should be evaluated by the 25(OH)-D value and not the 1,25(OH)2-D.
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PMID:Hypovitaminosis D and severe hypocalcaemia: the rebirth of an old disease. 2372 99