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)

A child developed progressive communicating nonobstructive hydrocephalus as a result of increased intracranial venous pressure. The child had been treated for congenital heart disease at age 3 weeks by surgical creation of an anastomosis between his superior vena cava and right pulmonary artery. Although his cardiac symptoms were alleviated, intracranial venous hypertension resulted, giving rise to progressive head enlargement and other signs of hydrocephalus. Postmortem examination at age 3 years disclosed no other lesions that could have caused the hydrocephalus. Increased intracranial venous pressure can lead to either pseudotumor cerebri or hydrocephalus, the former in children 3 years or older, the latter in infants 18 months or less. Possible mechanisms accounting for these differences are discussed.
 ...
PMID:Hydrocephalus caused by increased intracranial venous pressure: a clinicopathological study. 72 24

56 laryngeal paralyses were seen in newborn infants between 1970 and 1976 (25 bilateral, 31 unilateral). The aetiology was obstetric trauma in 11 cases, nuclear agenesis in 7 cases, a severe neurological disorder (spina bifida, hydrocephaly, microcephaly, lesions of the central nervous system) in 13 cases, and congenital heart disease in 3 cases. In 10 cases, the paralysis was present in isolation. The initial state was not recorded in 11 cases. The course varied according to the aetiology: 5 deaths, 4 due to the severity of neurological problems. Regression, which invariably occured before the end of the 6th month, was seen in all the cases with an obstetric aetiology and in 50% of those in which the paralysis was present in isolation. There was persistence in the majority of neurological, nuclear or central causes. However, subsequent tolerance of persistent forms was good in all those patients followed-up on a regular basis, apart from 5 who underwent surgery. Treatment consisted of intubation for forms poorly tolerated initially, for the first few weeks. Tracheotomy did not prove necessary in any case. 5 patients underwent surgery: arytenoidectomy or arytenoidopexy via an extralaryngeal approach.
 ...
PMID:[Neonatal laryngeal paralysis. Course and treatment. 56 cases (author's transl)]. 74 79

A study of 305 consecutive neonatal autopsies done by two prosectors showed a high correlation between the head circumference (HC) and crown-rump length (CR). The calculated formula can be stated approximately as HC equals 0.9 CR + 2.5 cm, and the two measurements are for all practical purposes equal in the immediate neonatal period, regardless of race, sex, age and body weight. When the HC was found to be significantly larger than CR, hydrocephalus and certain types of chondrodystrophy were present. When the HC was significantly smaller than CR, there was a higher incidence of congenital heart disease, especially hypoplastic left heart syndrome, and congenital central nervous system disorders other than hydrocephalus. From a practical point of view, a significant difference is a discrepancy of more than 2.5 cm. 102 consecutive living neonates were also similarly studied. It appears that the CR length when carefully measured under standardized condition is more reliable than the crown-heel length.
 ...
PMID:Correlation of head circumference and crown-rump length in newborn infants. A potential indicator of congenital maldevelopment. 117 2

More than 30,000 Norwegians are mentally retarded and about 50% of them are severely retarded and often multihandicapped. Before 1975 the majority of the severely retarded resided in large institutions. New legislation has led to an increasing emphasis on decentralization and integration in local communities. Mental retardation is caused by prenatal brain damage in 90% of the cases. Chromosomal aberrations like Down and Fragile-X syndromes are the most common causes. A high proportion of individuals with autism, cerebral palsy, epilepsy and sensory defects are mentally retarded, and the most common additional diagnoses in mental retardation are speech defects, epilepsy, cerebral palsy, congenital heart disease, sight and hearing impairment and hydrocephalus. Almost 1/3 of the mentally retarded adults have developed psychiatric disturbances. Families with mentally retarded children are affected emotionally, socially and economically, and the burden increases as the mentally retarded individual grows older.
 ...
PMID:[The mentally retarded dental patients. Who are they?]. 183 92

A 15-year-old girl with a congenital heart disease (pulmonary stenosis and aortic insufficiency), who had a ventriculoperitoneal shunt operation because of hydrocephalus internus at the age of two years, 12 years later underwent colectomy because of juvenile colonic polyposis. After this operation, enormous production of ascites began which, because of progressive development, finally required ventriculoatrial shunt operation. A total volume of 17 liters of fluid was removed in two ascites drainages before and during the latter operation. Postoperatively the ascites production stopped completely.
 ...
PMID:[Massive ascites formation due to unabsorbed cerebrospinal fluid following abdominal surgery in ventriculoperitoneal shunt. A case report]. 216 47

Fetal echocardiography is a well-established technique for the prenatal identification of congenital heart disease. One of the indications for its use is the presence of extracardiac anomalies, as such coexistent defects may have important implications for obstetric and neonatal management. We have reviewed the obstetric and pediatric literature to examine reported associations. If a fetus is suspected to have hydrocephalus, microcephaly, holoprosencephaly, agenesis of the corpus callosum, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued. Furthermore, echocardiography may be of help in differential diagnosis of some anomalies (for instance, skeletal dysplasias). Maternal diabetes and phenylketonuria, as well as exposure to phenytoin, trimethadione, or isotretinoin, may result in multiple systemic defects, including congenital heart disease.
 ...
PMID:Congenital heart disease and extracardiac anomalies: associations and indications for fetal echocardiography. 293 23

Based on an increase from 6000 ultrasound examinations done at the First University Gynecological Hospital of Munich in 1969 to more than 13,000 in 1982, and on an increased rate of antenatally diagnosed malformation, the accuracy of antenatal ultrasound diagnosis was investigated. It turned out that correct diagnosis could be made in over 80% of cases. However, this was incomplete in approximately 40% of the cases, since associated malformations of the gastrico-intestinal tract, congenital heart disease, myelomeningocele in correctly diagnosed hydrocephalus, and others were not recognized. False-positive results were found in 17.5% of cases, false-negative ones in 12.7%. Because of the uncertainty of antenatal diagnosis and ignorance of many physiological parameters, intrauterine surgical treatment cannot be advocated at present. Intrauterine measures are still confined to punctures, administration of drugs, and diagnostic procedures. Further consequences such as termination of pregnancy, psychological aspects, and possible development of intrauterine therapy are discussed.
 ...
PMID:Consequences of antenatal diagnosis for pediatric surgery. 308 57

Fifty-four consecutive cases of children with cerebral abscess from 1958 to 1987 are reviewed. Their average age was 6.6 years, ranging from 3 days to 19 years. A wide range of organisms and underlying diseases was encountered. The predominant mode of surgical therapy was craniotomy with resection of the abscess. Aspiration and craniotomy with drainage-evacuation were also employed in our series. No underlying disease was found in 10 (19%) of the children. Cyanotic heart disease (CHD) was present in 13 (24%) of the children. Four children had dental abscesses and 1 had otitis media. Seven (13%) children had abscesses secondary to hydrocephalus/shunt infections. Sinusitis and otitis accounted for 5 cases (9%). Four children (7%) had tuberculomas. One abscess was associated with a nasal dermal sinus and one was congenital. Fourteen (26%) patients had negative cultures. Fourteen (26%) abscesses contained streptococci of various types. Staphylococci were found in only 5 (9%) of the abscesses. The congenital abscess was caused by salmonella. Two abscesses (7%) were fungal. Both of these patients died. Six children (11%) were treated without surgical intervention. Three of them died. Forty-eight children had surgical intervention; 12 underwent aspiration, 14 underwent open evacuation of the abscess, and 22 had abscesses resected. Mortality in the aspiration group was twice that of the evacuation or resection group (17, 7 and 9%), respectively). The factor which correlated best with mortality was the patient's clinical status on admission. The advent of CT scan at our facility improved mortality by facilitating accurate diagnosis and surgical intervention. Overall mortality rates decreased from 31 to 5.7% and surgical mortality fell from 21 to 2.9%.
 ...
PMID:Pediatric cerebral abscess. 327 49

The Dandy-Walker malformation (DWM) includes hydrocephalus, incomplete cerebellar vermis and a posterior fossa cyst. Genetic influences and recurrence risks for DWM have not been well characterized. We report a retrospective study of 21 autopsy-proven cases of DWM and review the literature regarding an additional 92 subjects. DWM represents marked genetic and etiologic heterogeneity. Recurrence risk for siblings may be high when DWM is associated with a single gene disorder such as the autosomal recessive Warburg and Meckel-Gruber syndromes. DWM may also result from chromosomal anomalies or environmental factors. When the evidence suggests that DWM has not occurred as part of a Mendelian or chromosomal disorder then the recurrence risk is relatively low (on the order of 1 to 5%). There appears to be an increased frequency of the association of DWM with congenital heart disease, cleft lip/palate and neural tube defects. Based on our study we provide guidelines for the genetic counseling of families having a child with DWM.
 ...
PMID:Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks. 406 66

The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46XX del 11 (q23-q25). The main clinical manifestations included: trigonocephaly, flat broad nasal bridge, micrognathia, carp mouth, hypertelorism, low set ears, severe congenital heart disease, anomalies of limbs and external genitalia. In comparison to the previously reported cases of 11q-, the patient presented here had congenital anomalies not described before, including severe affected urogenital system, hypoplasia of the adrenal, accessory spleens and mild hydrocephaly.
 ...
PMID:New anomalies found in the 11q-syndrome. 649 68


1 2 3 4 5 Next >>