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

Disseminated intravascular coagulation (DIC) and other clotting abnormalities are common in sick newborn infants who have a variety of conditions. To document evidence of DIC at autopsy, immunoperoxidase staining of fibrin-related antigens (FRA) was used to detect intravascular microthrombi in liver, kidney, and lung from 127 newborns. Patients were selected from seven major disease groups: hyaline membrane disease/bronchopulmonary dysplasia, infection, meconium aspiration, necrotizing enterocolitis, congenital heart disease, other congenital anomalies, and extreme prematurity. Staining for FRA in intravascular microthrombi was seen in 40% of cases studied. The liver showed the highest frequency of intravascular microthrombi, located predominantly in the sinusoids. Unlike the adult kidney, the newborn kidney seldom had evidence of intravascular coagulation. Extravascular staining of FRA was observed in the renal distal tubular epithelium in 48 cases, many of which also had evidence of intravascular FRA staining. No significant differences in FRA staining patterns were seen among the disease groups except for cases of extreme prematurity in which all tissues showed minimal staining. Control tissues from SIDS patients also showed minimal FRA staining. Hepatic sinusoidal staining was the only tissue finding that correlated with thrombocytopenia, a clinical indicator of DIC. Despite the use of this immunohistochemical staining method, discrepancies between the clinical and autopsy diagnosis of DIC remain.
 ...
PMID:Immunohistochemical diagnosis of disseminated intravascular coagulation in newborns. 170 Apr 4

A combined morphometric, ultrastructural, and biochemical study was done on carotid bodies (CBs) obtained at autopsy from 213 patients in a pediatric and young adult population. The objective was to determine whether this group had statistically significant differences in sudden infant death syndrome (SIDS, n = 38), cystic fibrosis (CF, n = 30) and cyanotic heart disease (CHD, n = 17), compared with an age-matched control population (n = 128). Average combined weights of CBs in CF and CHD were significantly greater than those of controls in most age intervals (Student t test, P less than 0.05), and computerized planimetry showed an increase in both total surface area and area of "functional" parenchyma. There was diminished chief cell argyrophilia in 72% of CF CBs, and in 8 cases studied ultrastructurally there was moderate to marked depletion of dense-core neurosecretory granules. Most CBs from patients with CHD showed intense cytoplasmic argyrophilia similar to that of controls. Quantitative analysis for tissue catecholamines showed that dopamine was present in greatest concentration in each group of patients but was significantly elevated in CHD. There were no significant differences in morphometry, ultrastructure, or catecholamine content of CBs from SIDS victims, compared with age-related controls. These data add further support to CBs having a chemoreceptor role in humans with compensatory hypertrophy and hyperplasia occurring in most patients with chronic hypoxia due to CF and CHD. There were no significant findings to indicate that CBs play a direct role in the etiopathogenesis of SIDS.
 ...
PMID:Carotid body hyperplasia in cystic fibrosis and cyanotic heart disease. A combined morphometric, ultrastructural, and biochemical study. 399 43

Knowledge regarding the etiology and optimal management of prolonged apnea and its relationship to SIDS is still limited. The majority of infants with prolonged apnea do not die of SIDS, although the risk of SIDS in this group is greater than in the general population. Many infants with prolonged apnea who are perceived by parents and physicians as having had a "life-threatening" event may be at risk for another. Appropriate assessment following this event includes a careful history and physical examination to determine cause and severity. Etiologies to be considered include infections, metabolic aberrations, seizure problems, cardiac arrhythmias or congenital heart disease, anatomic airway abnormalities, gastroesophageal reflux and impaired regulation of breathing. If a specific cause has been identified for the infant's apnea, appropriate treatment often will lead to resolution of the apnea problem. If a specific etiology has not been identified or if the risk of "life-threatening" prolonged apnea seems to persist, electronic cardiorespiratory monitoring may be considered. Appropriate treatment for asymptomatic infants who are at increased statistical risk of SIDS is controversial. Asymptomatic infants may be candidates for home monitoring, but as yet, there are no reliable tests to predict which infants are at risk for prolonged apnea. Monitoring at home must be prescribed by the physician and should be continued until judged no longer appropriate by the attending physician. Skilled caregivers are crucial to the continuous observation and management of these patients in the hospital and at home. Therefore parents should be taught monitor use and also CPR.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Evaluation and management of infantile apnea. 670 8

Sudden cardiac death (SCD) is a rare but devastating complication of a number of underlying cardiovascular diseases. While coronary artery disease and acute myocardial infarction are the most common causes of SCD in older populations, inherited cardiac disorders comprise a substantial proportion of SCD cases aged less than 40 years. Inherited cardiac disorders include primary inherited arrhythmogenic disorders such as familial long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and inherited cardiomyopathies, most commonly hypertrophic cardiomyopathy (HCM). In up to 40% of young SCD victims (defined as 1-40 years old, excluding sudden unexplained death in infancy from 0 to 1 years, referred to as SIDS), no cause of death is identified at postmortem [so-called "autopsy negative" or "sudden arrhythmic death syndrome" (SADS)]. Management of families following a SCD includes the identification of the cause of death, based either on premorbid clinical details or the pathological findings at the postmortem. When no cause of death is identified, genetic testing of DNA extracted from postmortem tissue (the molecular autopsy) may identify a cause of death in up to 30% of SADS cases. Targeted clinical testing in a specialized multidisciplinary clinic in surviving family members combined with the results from genetic testing, provide the optimal setting for the identification of relatives who may be at risk of having the same inherited heart disease and are therefore also predisposed to an increased risk of SCD.
 ...
PMID:Molecular autopsy in victims of inherited arrhythmias. 2776 Nov 59

This special issue provides a rich blend of news, reviews and clinical studies on many aspects of the understanding, management and prevention of cardiovascular disease in childhood. Primary care in pediatric cardiology, principally, must concern with prevention of heart disease and early detection of existing illness. In addition, pediatricians must be able to maintain the vigilance of "healthy" children in order to prevent cardiovascular risk in adulthood. With these goals, the themes presented in this "mosaic" of topics include - Cardiovascular involvement in genetic syndromes, SIDS and infectious, endocrine, kidney, storage or autoimmune diseases. - Pulmonary hypertension and patent ductus arteriosus in premature infants. - Cardiovascular risk in obese or hypertensive children. - Bicupid aortic valve and aortic dysfunction - Covid 19 and heart disease in childhood I thank the Researchers and Professors of Catanzaro, Palermo, Pavia, Brescia, Taormina and Messina University for their interesting and up-to-date scientific contributions, and I hope the information gathered in this issue will be useful to the reader.
 ...
PMID:SPECIAL ISSUE: "FOCUS ON PEDIATRIC CARDIOLOGY". 3300 May 92