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)

Angelman syndrome (AS) is characterized by severe psychomotor retardation, speech impairment, happy disposition with bursts of laughter, ataxia, convulsions, and some distinct physical anomalies. Correct diagnosis of AS is important because of its clinical implications, and once the disease is confirmed, familial genetic counseling becomes crucial. We evaluated 22 patients with a putative diagnosis of AS by both clinical and molecular cytogenetic analysis. A deletion of the region 15q11-13 could be identified cytogenetically in 11 cases by high-resolution technique (group I). Four additional cases were confirmed by fluorescence in situ hybridization (FISH) study with D15S11, SNRPN, D15S10, and GABRB 3 [Prader-Willi syndrome (PWS)/AS region probes] (group II). The common deletion of GABRB 3 was documented in those AS cases (n = 15) by FISH. The other 7 cases exhibited no deletion over 15q11-13 at either the cytogenetic or molecular level (group III). We compared the following associated neurological disorders: convulsions and abnormal EEG, microcephaly, sleep and behavior problems, brain anomalies proved by image studies, sexual precocity with pineal tumor among the three groups, as well as other clinical conditions including congenital heart disease, obesity, scoliosis, and hypopigmentation. In the present study, the differences in neurological and facial characteristics were not distinct among these groups. However, the associated conditions were more frequently observed in the patients with deletion than in those without deletion. The EEG features of AS appear to be less sufficient in helping identify patients at an early age before the clinical features become obvious. Therefore, a region involved in the major As phenotypes may contain only one or more tightly contiguous genes around the GABRB 3 locus, which may explain the clinical heterogeneity in AS.
 ...
PMID:Angelman syndrome assessed by neurological and molecular cytogenetic investigations. 904 96

A growing number of physicians are performing exercise tests in their offices for the purposes of diagnosing cardiopulmonary disease and assessing exercise capacity in patients with heart disease. Methodology of testing is important in making the most effective use of the information gathered from the test. Selecting an approach that fits the objectives of the test and the individual being tested is essential for accurate and reproducible results. This article discusses the various exercise protocols and equipment used in exercise testing.
 ...
PMID:Special considerations in exercise testing. Protocols, equipment, and testing athletes. 913 53

Fourteen infants with severe acute bronchiolitis were admitted to the Intensive Care Unit (ICU) of Tunis. This pathology represents 36% of severe bronchopulmonary infections admitted to this ICU. Their age ranged between 2 and 48 weeks (mean: 15 weeks). Eight infants had hypotrophy. Two infants had congenital heart disease and one infant had tracheo-bronchomalacia. Viruses were found in 6/11 patients. Respiratory syncytial virus (RSV) was identified in five patients and an adenovirus in one patient. Five patients had respiratory arrest at ICU admission. Ten infants had evidence of atelectasis on chest X-ray films. Thirteen patients required mechanical ventilation. One infant had inappropriate antidiuretic hormone secretion resulting in convulsions. One infant had supraventricular tachycardia. Both had RSV infection. One patient who had congenital heart disease and RSV infection died. In the other 12 patients receiving mechanical ventilation, the mean duration of ventilation was 9 days (range: 2-30 days). The second patient who had congenital heart disease and RSV infection had severe respiratory sequelae at discharge.
 ...
PMID:[Clinical, therapeutic and developmental aspects of acute bronchiolitis in Tunisia]. 918 23

A 32-month-old spayed female Pug was referred for an MRI study due to convulsions. The MRI examination indicated encephalitis. However, echocardiography and pathological examinations revealed that this case had a ventricular septal defect and double chambered right ventricle which is a rare congenital heart disease in the dog. An anomalous muscle bundle crossed the right ventricular outflow tract, dividing the right ventricle into 2 chambers.
 ...
PMID:Double-chambered right ventricle in a dog. 1090 95

In our university cardiac center, the incidence of a cohort of children with acute neurologic complications resulting from cardiac catheterization performed for acyanotic or cyanotic congenital heart disease is 0.38% (14 children of a total of 3,648 catheterization procedures). Neurologic complications consisted of convulsion (n = 10), stroke (n = 6), intracranial hemorrhage (n = 2), extrapyramidal features (n = 1), paraplegia (n = 1), visual impairment (n = 1), hearing impairment (n = 1), and brachial plexus injury (n = 1). The main risk factors included prolonged duration of catheterization procedure and interventional manipulation in addition to cardiac catheterization. The possible mechanisms causing brain injury included cerebral embolism from local clots and hypoxia resulting from complications during the procedure. Other complications included intracranial hemorrhage secondary to anticoagulation and peripheral plexopathy because of prolonged fixed posture during anesthesia. The prognosis for the majority of patients with stroke is good. Neurologic sequelae, such as global developmental delay or epilepsy, occurred in those with hypoxic-ischemic encephalopathy.
 ...
PMID:Neurologic complications due to catheterization. 1137 1

This report describes usefulness of intraoperative transesophageal echocardiograpy (TEE) based on 773 cases we experienced in 7 years. We assessed residual lesions, ventricular function and preload with TEE. We found a case with stenotic lesion in her lateral tunnel which TEE revealed after Fontan procedure. We also ensured that no micro air bubble was in the left ventricle and the left atrium before weaning from cardiopulmonary bypass. No patient suffered from convulsion during postoperative management after induction of intraoperative TEE examination though we had had some cases in the previous year. Respiratory compromise was observed in 3 cases (0.5%) and significant hemodynamic change occurred in 9 cases (1.3%). The conditions improved just after withdrawing TEE probe. Neither inadvertent tracheal extubation, nor serious complication occurred during TEE examinations. The incidence of complications during pediatric TEE is low and TEE examination is useful for pediatric patients with congenital heart disease.
 ...
PMID:[Usefulness of intraoperative transesophageal echocardiography for pediatric patients with congenital heart disease]. 1507 75

Pulmonary arterial endarteritis is a rare event even in patients with congenital heart disease. In this paper, the authors report two cases of pulmonary endarteritis diagnosed at autopsy. The first was a 3-month-old male infant with absence of congenital heart defect (who had had neonatal sepsis). This patient presented with pneumonia and succumbed within 36 hours of hospital stay despite appropriate antimicrobial therapy and supportive management. The second patient was a 13-month-old male child with previously undiagnosed tetralogy of Fallot who had clinical presentation of acute meningitis with convulsions and succumbed within 12 hours of hospital stay despite adequate treatment. The main autopsy findings were chronic arteritis of the pulmonary trunk and right pulmonary artery in the former and rupture of the pulmonary trunk in the latter.
 ...
PMID:Pulmonary endarteritis. 1720 48

We aimed to describe nonconvulsive status epilepticus in terms of patient age, etiology, initial presentation, and electroencephalogram and neuroimaging findings. Twenty children with nonconvulsive status epilepticus were identified by a retrospective review of children who underwent long-term electroencephalogram monitoring in a pediatric intensive care unit. Age ranged from 2 months to 18 years, and in 30% of patients, the age was <1 year. Nonconvulsive status epilepticus occurred most commonly in children with prior epilepsy (35%) or congenital heart disease (25%). Prior to nonconvulsive status epilepticus, most had experienced isolated seizures (55%) or convulsive status epilepticus (20%), but some had only preceding mental-status change (25%). The most common etiologies were exacerbation of epilepsy (35%) and ischemic stroke (25%). No children aged <1 year had preexisting epilepsy. Electroencephalograms confirmed nonconvulsive status epilepticus immediately in 65%. Nonconvulsive status epilepticus lasted up to 8 days, and neuroimaging was abnormal in 82% of patients. Nonconvulsive status epilepticus occurs in a heterogeneous group of children, results from acute symptomatic etiologies in children aged <1 year, most frequently follows isolated convulsions but can occur with only preceding mental status change, and is often prolonged. These findings suggest that a high level of suspicion for nonconvulsive status epilepticus must be maintained, and long-term electroencephalogram monitoring may be indicated in a large number of patients.
 ...
PMID:Nonconvulsive status epilepticus in a pediatric intensive care unit. 1776 3

Catecholaminergic polymorphic ventricular tachycardia is a rare entity that can occur in children without cardiac disease and with a normal QT interval. It may cause syncope, convulsions, and sudden death during physical activity or emotional distress. We report the clinical features, treatment, and follow-up of 16 children with this diagnosis, emphasizing the potentially fatal nature of the disease.The mean age of patients at the onset of symptoms and at the time of diagnosis was 7.8 plus or minus 2.5 years, and 10.6 plus or minus 3.5 years, respectively. Syncope was the main complaint in 11, and 7 were treated as erroneously as having epilepsy. Diagnosis was confirmed by exercise and/or infusion of isoproterenol. Once the diagnosis was made, we started propranolol in all patients, and added verapamil if ventricular tachycardia was still inducible on a treadmill exercise test. An intracardiac defibrillator was implanted in 4 patients. Of the 16 patients, 4 died suddenly, giving a rate of mortality of 25%. In 2 of those dying suddenly, there was evidence of poor compliance to the recommended treatment. Another 2 patients had been resuscitated because of sudden cardiac arrest.Catecholaminergic polymorphic ventricular tachycardia must be considered in the differential diagnosis of syncope in children without heart disease but with a normal QT interval. Medical treatment with propranolol and verapamil may decrease the incidence of arrhythmia. Implantation of intracardiac defibrillators should be considered in those resistant to drug therapy. Delay in diagnosis, and inadequate treatment, can result in sudden cardiac death.
 ...
PMID:Clinical experiences of patients with catecholaminergic polymorphic ventricular tachycardia. 1910 2

Congenital heart disease (CHD) is the most common birth abnormality and the etiology is unknown in the overwhelming majority of cases. ISLET1 (ISL1) is a transcription factor that marks cardiac progenitor cells and generates diverse multipotent cardiovascular cell lineages. The fundamental role of ISL1 in cardiac morphogenesis makes this an exceptional candidate gene to consider as a cause of complex congenital heart disease. We evaluated whether genetic variation in ISL1 fits the common variant-common disease hypothesis. A 2-stage case-control study examined 27 polymorphisms mapping to the ISL1 locus in 300 patients with complex congenital heart disease and 2,201 healthy pediatric controls. Eight genic and flanking ISL1 SNPs were significantly associated with complex congenital heart disease. A replication study analyzed these candidate SNPs in 1,044 new cases and 3,934 independent controls and confirmed that genetic variation in ISL1 is associated with risk of non-syndromic congenital heart disease. Our results demonstrate that two different ISL1 haplotypes contribute to risk of CHD in white and black/African American populations.
 ...
PMID:Common variation in ISL1 confers genetic susceptibility for human congenital heart disease. 2052 Jul 80


<< Previous 1 2 3 4 5 Next >>