Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In three patients with valvular aortic disease in addition isiopathic hypertrophic subaortic stenosis (IHSS) was proven by echocardiography. From the clinical standpoint the dynamic subvalvular stenosis was not supposed in all cases. IHSS was echocardiographically characterized by asymmetrical septum hypertrophy and systolic anterior movement of the anterior mitral leaflet. Isolated aortic valve insufficiency was found in two patients, and combined stenosis and insufficiency in one patient. Mitral leaflet fluttering - indicative of aortic valve insufficiency - was observed in two patients. The identification of the dynamic subvalvular stenosis in patients with valvular aortic disease is important for the therapeutical approach. Echocardiography is very suitable for the diagnosis of this combined heart disease.
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PMID:[Idiopathic hypertrophic subaortic stenosis in aortic valve disease-diagnosis using echocardiography]. 13 5

The contribution of M-mode echocardiography to cardiac diagnosis was evaluated in a series of 1,000 successive patients. Among subjects in whom a presumptive clinical diagnosis had been made, echocardiography demonstrated totally unexpected findings in 10 per cent, supported the clinical diagnosis in 50 per cent and was entirely within normal limits in 19 per cent. Among patients with evidence of heart disease but no firm clinical diagnosis, echocardiography established the diagnosis in 23 per cent, including 20 per cent of all patients referred for evaluation of chest pain or arrhythmia of unclear etiology. "Missed" clinical diagnosis frequently involved patients with mitral valve prolapse, congestive cardiomyopathy, pericardial disease or asymmetrical septal hypertrophy of the heart. This study quantifies the amount of independent information contributed by echocardiography to cardiac diagnosis and demonstrates that this technic provides data of important clinical relevance in a surprisingly large number of cardiac patients.
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PMID:Contribuiton of M-mode echocardiography to cardiac diagnosis. An assessment in 1,000 successive patients. 70 38

1) Etiology of convulsions starting prior to two years of age was discussed in 418 cases. Neonatal seizures before 30 days old appeared in 86 cases (53 boys and 33 girls). Three hundred and thirty-two patients (172 boys and 160 girls) had convulsions in infancy. Twelve patients (9 boys and 3 girls) suffered from convulsions both in neonatal and infantile period. 2)Etiology of convulsions was prenatal in 67 cases (16%), natal in 49 cases (12%), postnatal in 158 cases (38%) and unknown in 144 cases (34%). Prenatal factors consisted of cerebral malformation (23 cases, 6%), associated physical minor anomaly such as cataracta or finger abomaly (11 cases, 3%), abnormal pernatal history (8 cases, 2%), congenital heart disease 3) cases, 1%), tuberose scleorsis (7 cases, 2%) and positive family history (13 cases, 3%). Postnatal causes included hypocalcemia or hypoglycemia (7 cases, 2%), brain tumors (3 cases, 1%), breath-holding spells (21 cases, 5%), febrile convulsion (44 cases, 11%), bathing (3 cases, 1%), afebrile colds (3 cases, 1%), purulent meningitis (17 cases, 4%), DPT immunization (10 cases 2%), vaccination (7 cases, 2%) and acute hemiplegia (10 cases, 2%). The group of unknown etiology were as fns (38 cases, 9%), epilepsy associated with interictal signs (23 cases, 6%), benign infantile convulsions (57 cases, 14%), neonatal convulsion of unknown etiology (12 cases, 3%) and miscellaneous categories (4%). 3) Pregnancy was abnormal in 53% of cases with cerebral malformation. Asphyxia at birth was noted in 43% of patients with tuberose sclerosis and in 35% of congenital cerebral abomaly. 4) Pneumoencephalographic examinations revealed midline anomaly in 50% of cerebral malformation. It was abnormal in all cases with tuberose sclerosis, head injury and epilepsy with interseizure neurological signs. 5) There were no correlations between the seizure pattern and the etiology in neonatal convulsion. In infancy, focal-unilateral convulsions and infantile spasms were frequently associated with organic damages. Generalized seizures were seen in organic lesions as well as functional ones although approximately half of the cases were febrile convulsion, benign infantile convulsion or breath-holding spell. 6) EEG features of cerebral malformation were asymmetrical or multifocal dischages in neonatal period and hypsarhythmia or focal-unilateral spike discharges in infancy. Tuberose sclerosis showed hypsarhythmia in infancy. In birth injury or cerebral anoxia, EEG mostly revealed focal-unilateral abnormality or suppression-burst activity in newborns and hypsarhythmia or focal features in infants. 7) The occurrence rate of neonatal seizures in autopsy cases with intracranial pathology was demonstrated. EEG with intravenous diazepam was useful to know pathophysiology of infantile spasms.
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PMID:Etiology of convulsions in neonatal and infantile period. 99 19

The characteristic of myocardial damage in hypertrophic cardiomyopathy (HCM) was evaluated as to whether the damage is limited to the hypertrophied wall or extends throughout the entire wall. The myocardial damage was detected by exercise thallium-201 (Tl-201) scintigraphy and was evaluated using circumferential profile analysis, calculation of initial uptake and washout rate. Eleven patients with asymmetrical hypertrophy (ASH), whose septal and posterior wall thickness ratio exceeded 1.3 on left ventriculography and biventriculography, and 13 age-matched control subjects without heart disease were studied. The mean values of initial uptake in both groups did not differ significantly, but the washout rate for the entire heart was significantly decreased only in the HCM group (p < 0.05). All of the regional washout rates (antero-septal, apical and postero-lateral) were significantly decreased in the HCM group (p < 0.05), without any difference between the hypertrophied wall and the non-thickened free wall being noted. These results demonstrated that the analysis of myocardial damage by exercise Tl-201 scintigraphy using calculation of the washout rate is a very sensitive means of detecting myocardial damage in HCM, and that such myocardial damage is not restricted to the hypertrophied wall, but rather extends to the entire wall, including the free wall which is not thickened.
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PMID:[Distribution of myocardial damage in patients with hypertrophic cardiomyopathy: evaluation by exercise thallium-201 scintigraphy]. 134 29

Three Down syndrome patients for whom karyotypic analysis showed a "mirror" (reverse tandem) duplication of chromosome 21 were studied by phenotypic, cytogenetic, and molecular methods. On high-resolution R-banding analysis performed in two cases, the size of the fusion 21q22.3 band was apparently less than twice the size of the normal 21q22.3, suggesting a partial deletion of distal 21q. The evaluation of eight chromosome 21 single-copy sequences of the 21q22 region--namely, SOD1, D21S15, D21S42, CRYA1, PFKL, CD18, COL6A1, and S100B--by a slot blot method showed in all three cases a partial deletion of 21q22.3 and partial monosomy. The translocation breakpoints were different in each patient, and in two cases the rearranged chromosome was found to be asymmetrical. The molecular definition of the monosomy 21 in each patient was, respectively, COL6A1-S100B, CD18-S100B, and PFKL-S100B. DNA polymorphism analysis indicated in all cases a homozygosity of the duplicated material. The duplicated region was maternal in two patients and paternal in one patient. These data suggest that the reverse tandem chromosomes did not result from a telomeric fusion between chromosomes 21 but from a translocation between sister chromatids. The phenotypes of these patients did not differ significantly from that of individuals with full trisomy 21, except in one case with large ears with an unfolded helix. The fact that monosomy of distal 21q22.3 in these patients resulted in a phenotype very similar to Down syndrome suggests that the duplication of the genes located in this part of chromosome 21 is not necessary for the pathogenesis of the Down syndrome features observed in these patients, including most of the facial and hand features, muscular hypotonia, cardiopathy of the Fallot tetralogy type, and part of the mental retardation.
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PMID:No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21. 146 8

Seven adult patients with old and severe arterial hypertension were found to have hypertrophic cardiomyopathy with left ventricular obstruction demonstrated by an isoproterenol test. Whenever feasible, confirmation that systolic obstruction of the left ventricular outflow tract was due to anterior systolic movement of the mitral valve was obtained. Echocardiography revealed a number of ultrasonic features (asymmetrical septal hypertrophy, small left ventricle and clear-cut reduction of the left ventricular outflow tract) which put these cases closer to the primary hypertrophic cardiopathy group than to the hypertensive cardiomyopathy group, with a similar history of hypertension. Detecting this group is facilitated by the use of vasoactive drugs in patients with these echocardiographic features. This is important since there is a risk of poor tolerance to vasodilators, notably nitrates, which may suddenly reveal the left ventricular dynamic obstruction syndrome. These patients are also exposed to paroxysmal atrial fibrillation.
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PMID:[Hypertrophic cardiomyopathy with left ventricular dynamic obstruction syndrome in hypertensive adult patients]. 183 84

We experienced three cases of unusual cardiac hypertrophy of the right ventricle or interventricular septum with severe congestive heart failure in the neonatal period. One patient had congenital heart disease consisting of membranous tricuspid atresia, absent pulmonary valve, patent ductus arteriosus, left single coronary artery and a hypoplastic pouch-like right ventricle. Very marked cardiac hypertrophy was observed in the right ventricle and interventricular septum. Histologically, there was no appreciable disorganization of the cardiac muscle. The etiology of the unusual hypertrophy of cardiac muscle in this patient is uncertain. The other two patients had asymmetrical septal hypertrophy of the left ventricle evidenced by two-dimensional echocardiography. Cardiac catheterization was performed for these two patients. There was no evidence of congenital heart disease; however, one patient had a significant pressure gradient in the outflow tracts of the left and right ventricles. These two patients' faces appeared unusual and they had minor anomalies of their fingers and ears. This unusual cardiac hypertrophy associated with cardiac anomalies and minor anomalies of the face and extremities comprise a specific type of cardiomyopathy in neonates. This should be distinguished from hypertropic cardiomyopathy of older children and adults.
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PMID:[Unusual cardiac hypertrophy in neonates with congestive heart failure: report of three cases]. 295 60

Four cases of "absent pulmonary valve" (APV) are described. This congenital heart disease consists of aplasia or extreme hypoplasia of pulmonary semilunar cusps and is always combined with aneurysmatic dilatation of pulmonary artery. In two of them the diagnosis was confirmed at autopsy. The remaining two are clinical reports surgically confirmed. One of them was studied by single cristal and two-dimensional echocardiography. In three cases APV was associated with tetralogy of Fallot, while in one case there was an intact ventricular septum. Review of literature allowed us to select 149 cases of APV anatomically confirmed, besides our ownes. It is stressed on that APV is usually associated with dextroposition of the aorta and ventricular septal defect by conoventricular malallignment. It is suggested that pathogenesis of this malformation is a consequence of an anomalous development of mesenchimal tissue of pulmonary cusps rather than an asymmetrical truncal sepimentation. We favour the hypothesis that aneurysmatic dilatation of pulmonary artery is caused by altered hemodynamics acting both in foetal and extrauterine life, even if differently expressed. Pathophysiologic and diagnostic value of cyanosis, dyspnea, and systo-diastolic murmur are discussed. Some outlines of the most important diagnostic procedures are reviewed and particularly echocardiography, which shows aortic overriding and dilatation of right ventricular outflow tract and pulmonary artery separated by a restricted pulmonary annulus. Prognosis and therapy are also mentioned.
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PMID:[Absent pulmonary valve. Report of 4 cases, echocardiographic assessment and review of the literature (author's transl)]. 700 35

Congenital asymmetrical crying facies, a minor congenital anomaly due to hypoplasia or the absence of the depressor muscle of the angle of the mouth (musculus depressor anguli oris), manifests as lower lip asymmetry during crying. In a prospective study of 1,600 neonates born at the J.L.N. Medical College in Ajmer, India, during the period from January 1979 to August 1979, 10 infants (6.3 per 1,000 infants) had asymmetrical crying facies. Two of the 10 affected neonates had congenital heart disease (1 ventricular septal defect; 1 tetralogy of Fallot), compared with three out of 1,590 members of a control group (p < 0.001). Five babies had other minor congenital malformations. Four of the 10 mothers of probands and three of twelve siblings had the same anomaly, suggesting a familial etiologic factor. No noxious obstetric or prenatal factor could be identified. At a follow-up examination (3 to 6 months later), all of the infants showed normal growth and development, although the effects of the anomaly persisted. We suggest that asymmetrical crying facies is a commonly occurring minor congenital malformation, and in its presence, a thorough search for other congenital malformations, especially of the cardiovascular system, should be made.
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PMID:Congenital asymmetrical crying facies. 740 69

Hypertrophic cardiomyopathy (HCM) is the most common form of feline heart disease. Affected cats have concentrical or asymmetrical left ventricular hypertrophy without an identifiable cause. Although many diseases can cause concentrical left ventricular hypertrophy, the term hypertrophic cardiomyopathy is used here exclusively to refer to the idiopathic disease.
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PMID:Therapy of feline hypertrophic cardiomyopathy. 1009 48


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