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)

The finding of choanal atresia warrants careful and prompt consideration of other severe congenital anomalies in the newborn. In a chart review of 41 patients with the diagnosis of choanal atresia, 17 patients (41%) had choanal atresia alone while 24 (59%) had at least one other anomaly. Twenty-four (59%) of all patients had bilateral choanal atresia, and 75% of the patients with at least one other anomaly had bilateral choanal atresia. The following features were found to be associated with bilateral choanal atresia: significant structural heart disease (21%), postnatal growth retardation (36%), psychomotor retardation (19%), sensorineural deafness (21%), velopharyngeal discoordination (15%), micrognathia (12%), blocked tear duct (10%), high-arched palate (15%), and facial asymmetry (7%). Twenty-one other anomalies were described. Coloboma was encountered in 10% of our patients and only 3 patients had all of the features originally described in the CHARGE Association. The non-random association of multiple anomalies suggested by the eponym, CHARGE is discussed, and further data is offered for evaluating the child who presents with choanal atresia.
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PMID:Choanal atresia and its associated anomalies. Further support for the CHARGE Association. 399 78

Over a thousand women with confirmed rubella infection at different stages of pregnancy were followed up prospectively. Two-thirds of the women were multiparous. Pregnancy continued in 40%, and the infants were followed up after birth both clinically and serologically. The frequency of congenital infection after maternal rubella with a rash was more than 80% during the first 12 weeks of pregnancy, 54% at 13-14 weeks, and 25% at the end of the second trimester. The infection rate then rose again to reach a high figure in the last month. Follow-up was to 2 years of age--the findings in infected children being compared with those in children who had escaped infection. Rubella defects occurred in all infants infected before the 11th week (principally congenital heart disease and deafness) and in 35% of those infected at 13-16 weeks (deafness alone). No defects attributable to rubella were found in 63 children infected after 16 weeks. Continued surveillance of cases of confirmed rubella during pregnancy is recommended as an additional way of monitoring the effect of rubella vaccination.
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PMID:Consequences of confirmed maternal rubella at successive stages of pregnancy. 612 63

We report 21 patients with choanal atresia or ocular coloboma or both who have certain other associated anomalies, including congenital heart disease, postnatal growth deficiency, mental retardation and/or CNS anomalies, microphallus and cryptorchidism, and ear anomalies and/or deafness. Facial palsy, micrognathia, cleft palate, and swallowing difficulties were also common. It has not been possible to define a single etiology or a syndrome in these patients. We propose the mnemonic CHARGE (C-coloboma, H-heart disease, A-atresia choanae, R-retarded growth and retarded development and/or CNS anomalies, G-genital hypoplasia, and E-ear anomalies and/or deafness) to describe the features of this association.
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PMID:Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. 616 37

Six patients with both choanal atresia (ChA) and additional malformations are described and another 110 cases with this combination reviewed from the literature. Our study of these cases supports the existence of the CHARGE-association (Coloboma, Heart Disease, Atresia of choanae, Retarded mental development and growth, Genital hypoplasia, Ear anomalies and deafness). Our findings suggest the inclusion of orofacial clefts and oesophageal atresia among the main symptoms of this association. A certain degree of facial dysmorphism (low set, dysplastic ears, retrogenia, antimongoloid slant of palpebral fissures and anteverted nares) was observed in each of our cases. Infants with the bilateral type of ChA plus cardiac defects and those with ChA plus renal malformations have a high mortality rate. The aetiology of the association is not clear. The recurrence risk may be low.
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PMID:Congenital anomalies in patients with choanal atresia: CHARGE-association. 648 78

Between 1965 and 1976 a total of 217 infants received intra-uterine transfusions. Perinatal and follow-up data are presented on the 81 survivors, of whom 62 per cent were over five years of age at final follow-up. Assessment included development and general health, audiometric testing and school performance. Abnormalities were found in 29 of the survivors. In 13 cases these were attributed to haemolytic disease, and all had some neurological deficit such as differing degrees of deafness. 10 others had slight abnormalities associated with the procedure of intra-uterine transfusion, while six had abnormalities not associated with either (spastic quadriplegia following infection, congenital heart disease and visual disorders). The remaining 52 children were normal. It is suggested that hyperbilirubinaemia is probably responsible for the neurological deficits.
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PMID:Follow-up study of survivors after intra-uterine transfusion. 718 15

Birth weights of 42 full-term patients with congenital rubella syndrome were analyzed. All of these infants were products of pregnancies in which the exact dates of the maternal first day of last menstrual period and of the time of onset of the mothers' rubella rash were known. The range of time of maternal rubella associated with low-birth-weight was in the gestational age interval from 16 to 100 days. Low-birth-weight may have a relationship with time of maternal rubella rather than with the type of defects, i.e., cataract, heart disease, and deafness.
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PMID:Low-birth-weight and congenital rubella syndrome: effect of gestational age at time of maternal rubella infection. 729 13

The original TORCH complex described clinically similar congenital infections caused by Toxoplasma gondii, rubella virus, cytomegalovirus, and herpes simplex virus, types 1 and 2. Cutaneous manifestations, including petechiae, purpura, jaundice, and dermal erythropoiesis, are commonly seen in toxoplasmosis, rubella, and cytomegalovirus infections. In herpes simplex virus infections, 80% of symptomatic infants show single or grouped cutaneous vesicles, oral ulcers, or conjunctivitis. Extracutaneous signs and symptoms are variable and can be severe. Significant clinical signs in congenital toxoplasmosis include diffuse intracerebral calcification, chorioretinitis, and microcephaly; congenital rubella can result in deafness, congenital heart disease, retinopathy, and brain calcification. Cytomegalic inclusion disease can include hepatomegaly, splenomegaly, paraventricular calcification, and intrauterine growth retardation. Localized or disseminated congenital herpes virus infection often involves the central nervous system and the eye. Diagnosis is confirmed by culture and identification of species-specific immunoglobulin M within the first 2 weeks of life. Histological examination contributes to the diagnosis in herpes simplex virus infection. Treatment for toxoplasmosis includes pyrimethamine with sulfadiazine or trisulfapyrimidine; congenital herpes simplex virus infection is treated with acyclovir. No specific therapy for congenital rubella or cytomegalovirus infections has been established, and so treatment is primarily supportive.
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PMID:TORCH syndrome. 764 Feb

Cerebral infarction before the age of 45 years accounts for 4-6% of all strokes. The etiology remains unexplained in a significant proportion of patients even after extensive investigations. The reported risk factors of this age group are cardiopathies, hypertension, smoking, hypercholesterolemia, reduction of anticoagulant proteins, hypercoagulable states, antiphospholipid antibodies primary syndrome, antiphospholipid antibodies secondary syndrome, some hemoglobinopathies, hyperviscosity syndromes, vasculitis, collagen vascular diseases, fibromuscular dysplasia, arterial dissections, migraine, myopathy encephalopathy lactic acidosis stroke like episodes, homocystinuria, familial amyloid angiopathy, microangiopathy with retinopathy encephalopathy and deafness, systemic lupus erythematosus, use of cocaine, traumas or manipulations of neck, AIDS. From 1/1/94 to 04/30/95 we observed 19 patients with cerebral infarctions and 9 patients with transitory ischemic attacks in young people. The aim of our study was to apply a diagnostic protocol by sequential tests of first level and second level. According to this protocol we found that the more common risk factors were ischemic cardiopathy, hypertension, smoking and hypercholesterolemia. Moreover we observed other independent risk factors, although less frequent, like the antiphospholipid antibodies, neurolupus, AIDS, deficit of protein S.
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PMID:[The application of a new diagnostic protocol for stroke in the young]. 876 46

Five young infants with congenital rubella syndrome (CRS) underwent cranial ultrasonographic examinations and/or computed tomographic examinations. Only two of these infants were small for their gestational age, and none of them were microcephalic at birth. Deafness and ocular lesions were found in four patients, and congenital heart disease was found in three. All had abnormal ultrasonographic findings: linear-shaped hyperechogenicity over the basal ganglia was noted for five patients, periventricular punctate hyperechogenicity was noted for three, and subependymal cysts were observed in two. Follow-up ultrasonograms for two of the patients showed progressively enlarging hyperechogenic lesions. Calcification was found in both patients examined by means of computed tomography. All patients became microcephalic, with profound global developmental delay. Intracranial calcifications are common findings in patients with CRS. Ultrasonography should be performed for high-risk neonates, regardless of their symptoms. The finding of linear hyperechogenicity over the basal ganglia should prompt a search for all congenital infections, including CRS.
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PMID:Frequency of linear hyperechogenicity over the basal ganglia in young infants with congenital rubella syndrome. 885 82

A.B.R. was employed to examine auditory pathways in a group of 78 newborn infants at risk and one of 20 normal infants. The impaired newborn group suffered of various risk factors or pathologies: 20 premature infants, 12 undersize (small for date), 12 with breathing distress, 11 hiv positive, 5 with neonatal jaundice, 4 suffered of convulsion, 4 at risk for hereditary deafness, 4 born by mothers with mellitus diabetes, 2 with dolichocefalia, 1 with the Albers-Schomberg syndrome, 1 with congenital heart disease and 1 with congenital glycogenosis. The results of A.B.R. of the risk group were compared statistically employing the "t Student's test" with those of the group of normal infants. The influence of risk factors in the first group on alterated A.B.R. parameters was then examined using a step-by-step logistic regression analysis method. The result showed a significant increase in a latency of waves V and III and inter-waves I-V and III-V in risk infants, while wave I and I-III internals were normal. These findings appear to demonstrate that in infants at risk, brainstem acoustic pathways are more sensitive to damage than the cochlea and acoustic nerve. This could be explained by the different degree of maturation that exists between the central acoustic pathways and the coclea and acoustic nerve. Analysis of the influence of pathologies and risk factors on A.B.R. indicate that birth weight followed by chronological age and length of the gestation period are significant in the development of A.B.R. alterations. The Albers-Schomberg syndrome, dolicocephalia, microcephalia, congenital glicogenosys, hiv infection, breathing difficulty and neonatal jaundice proved to be the main pathologies responsible for bringing about A.B.R. alterations.
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PMID:[The study of factors affecting ABR in high risk newborn infants]. 892 57


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