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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors presented a case of the Williams and Beuren's syndrome, special by the existence of aorta coarctation, high blood pressure, nephrotic syndrome and renal dysplasia. The Williams-Beuren's syndrome is characterised by the association of facial anomalies, mental retardation and supra-valvular aortic stenosis. The case presented in this study demonstrates: -- the symptomatic diversity of the Williams and Beuren's syndrome; -- and the relationship of this syndrome and severe idiopathic hypercalcemia of the infant. The etiopathogenesis is also discussed.
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PMID:[Williams and Beuren's syndrome with hypertension and associated renal abnormalities (author's transl)]. 22 86

Rapid progress in the study of learning disabilities requires a common context within which investigators and professionals with very diverse backgrounds can work towards common goals. Much evidence points to the heterogeneity of origin and clinical expression of learning disabilities as well as to many other ways in which they resemble such multifactorial conditions as mental retardation, gout and hypertension. In these conditions, genetic and epidemiological methods have been used to sort out the constitutional and environmental factors which precipitate disease in susceptible persons. Such an approach to learning disabilities can be expected to be rewarding.
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PMID:The genetics of learning disabilities. 25 73

Pathological type complications associated with 46 cases of neurofibromatosis in children under 12 are reported. It is noted that in 65.2% of the cases there are mental retardation, usually serious. More than 50% (24 cases) had some type of tumoration. All were benign with the exception of a suprarenal neuroblastoma that caused arterial hypertension and histological characteristics of malignancy. Fifteen tumors were located in the optica ways, one in the mediastinum, one in the abdomen, one in the paravertebral area, one which was a craneal plexiform tumor and four of the moluscum pendulum type on the eyelids or in neighbouring regions. Twelve children suffered from some type of seizures (Salaam's spasms, tonic-clonic, myoclonic, atonic and versive). Radiological abnormalities were very frequent in the simple X rays as well as in those in which contrast medium was used. In four cases malformations of the midline were observed, three of which were non-communicating cysts of the septum pellucidum, the other agenesis of the corpus callosum. Neurofibromatosis was further seen associated iwth Bourneville's syndrome, Morquio's syndrome, Batten's type of lipofuscinosis, facial or generalized hemihypertrophia and stenosis of the aqueduct. Heredity was dominant autosomic in 16 cases, the rest being due to possible recent mutations.
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PMID:[Pathological complications in 46 cases of neurofibromatosis in children (author's transl)]. 82 74

Five cases of supravalvular aortic stenosis (SAS) diagnosed by heart catheterization were studied in the Instituto Nacional de Cardiologia of Mexico. The clinic and laboratory data of interest of the differential diagnosis with other forms of obstruction of the left ventricle as follows: 1. Three cases had mental retardation and "elfin" face (SAS with specific psychophysical syndrome), the rest had a normal psyco-physical state without family antecedents (sporadic SAS). 2. The aortic focus was the epicenter of the expulsion murmur. In the phoncarodiographic study, two patients had protosistolic click and another had, in addition, a descending protodiastolic murmur (Int. I-IV). In the radial sphigmograms, one case had an amplitude difference in favor of the right side. 3. All had serum calcium figures within normal limits. 4. A chromosomatic analysis of preperipheral blood was performed on two patients, with normal results. 5. In the electrocardiogram, one case had right ventricular enlargement secondary to pulmonary arterial hypertension, due to stenosis of the main pulmonary arteries. 6. The radiologic study did not show dilatation of the ascending aorta and aortic bud in any case. 7. The angiocardiography showed: stenosis directly above the Valsalva sinuses; absence of dilatation or hypoplasia of the aorta above the stenosis; and the coronary network, indirectly opaqued, showed no abnormalities. One case had aortic coarctation and abnormal implantation of the right sublaviar artery, and another, stenosis of the right and left branch of its origen of the truncus of the pulmonary artery. The literature up to the present is reviewed and an anatomo-functional classification is proposed with the objective of including new varieties.
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PMID:[Supravalvular aortic stenosis. Report of clinical findings in 5 patients]. 113 53

There are few published reports of adults with Williams syndrome (WS). We have evaluated ten adult WS patients. The patients in our study were very variable in clinical presentation, ranging from severely affected patients with complicated medical histories to mildly affected patients who are generally in good health. Cardiovascular anomalies and hypertension were frequent. Supravalvular aortic stenosis was seen in four patients, mitral valve prolapse in three, bicuspid aortic valve in one, valvular aortic stenosis in one, and pulmonary stenosis with right ventricular hypertrophy in one. Typical facial features included stellate irides, prominent cheeks, full lips, and micrognathia. Mental retardation was seen in all patients. Verbal skills were better developed than motor skills. All patients in our study lead active lives, and most are involved in sports. Some hold supervised jobs. Eight of our patients live with their parents and two in group homes. Independent living is restricted by their mental and adaptive limitations.
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PMID:Williams syndrome in adults. 148 39

Senior's syndrome includes nephronophthisis with retinitis pigmentosa. In our patient, there was a combination of bilateral retinitis pigmentosa, cataracts, nephronophthisis, osteomalacia, growth and mental retardation, arterial hypertension, and aortic insufficiency. This case was unusual because all the features of Senior's syndrome existed along with bilateral cataracts from childhood.
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PMID:Senior's syndrome (hereditary renal retinal dysplasia) associated with cataracts. 157 Sep 23

The Bardet-Biedl syndrome is a rare autosomal recessive disorder characterized by pigmentary retinopathy, obesity, polydactyly, hypogonadism, and mental retardation. Renal abnormalities, hypertension, acquired heart disease, and hepatic fibrosis also occur in homozygotes. Two adult Bardet-Biedl sibs, a man with hypertension and cardiomegaly and a woman with biliary cirrhosis, and 75 relatives in 5 generations of the extended family were identified. Hospital records for major illnesses, death certificates, and autopsy reports were examined. The frequent observation of obesity, hypertension, diabetes mellitus, and renal disease in first-degree relatives, obligate gene carriers, and other blood relatives raise the possibility that Bardet-Biedl heterozygotes are also predisposed to these disorders.
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PMID:Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. 187 34

Fifty-nine children with Japanese encephalitis admitted in Maharaj Nakhon Chiang Mai Hospital since 1984-1985 were studied. The male to female ratio was 1.18:1. The age range was between 1 to 14 years old with 74% in the age range of 6-14 years. The symptoms included change of consciousness (100%), fever (96%), headache (76%), convulsions (59%) and vomiting (52%). The neurologic signs, namely positive meningeal signs (61%), hyperreflexia (61%), positive Babinski's sign (49%) hemiplegia (42%), papilledema (22%), and other cranial nerve palsies (23%) were seen. Abnormal respiration were found in 23% and 8% of cases had hypertension. Most children (81%) had blood leukocytosis with predominant neutrophils. The average CSF white blood cell count was 200 cells per mm. with lymphocytosis in 76 percent of the patients. The average CSF protein was higher than normal. Almost all cases had normal CSF sugar levels. The JEV antibody response, mostly primary type, Occurred in about 62 percent of cases. All children received symptomatic and supportive treatment, such as antipyretics, anticonvulsants, anticerebral edema agents, adequate respiration and nutrition and physical and occupational therapies. Associated complications were treated according to the individual's need. The mortality rate and neurological sequelae were found in 17% and 57% of cases respectively. Eighteen percent of the patients suffered severe neurological sequelae. The neurological sequelae included memory deficit (46%), mental retardation (42%), hemiplegia (34%), emotional and behavioral disturbance (24%), epilepsy (20%), motor aphasia (16%), cranial nerve palsies (16%), involuntary limb movement (8%) and blindness (2%).
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PMID:Japanese encephalitis in children in northern Thailand. 256 17

In the Dundee Development Screening Programme all children born in Dundee in 1974 and 1975 were screened at intervals during infancy and childhood. The obstetric and neonatal antecedent factors in 300 of the 322 singleton children with neurodevelopmental disability (index group) were compared with those of the 600 children of normal development born immediately before and after each child with disability (control group). Low social class was associated with mental retardation, global delay, speech delay, and behavioural disorder, but not with cerebral palsy or motor delay. With the exception of cerebral palsy, strong associations were found between all categories of disability and severe hypertension, unclassified antepartum haemorrhage, and preterm uterine activity. Cerebral palsy was not associated with antepartum complications, but was with fetal tachycardia during labour. Our data suggest that neurodevelopmental disability may, in many cases, originate during pregnancy and delivery.
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PMID:Do pregnancy complications contribute to neurodevelopmental disability? 257 5

In order to elucidate some of the factors which influence the low birth weight rate, 22,815 deliveries were studied. It is already known that low birth weight (LBW) underlies the majority of infant deaths. It is also associated with an increased risk of permanent disability such as cerebral palsy, learning difficulties, and mental retardation of various degrees in survivors. In modern society these problems require major resources from the health budget. The Israeli population is composed of Jews and non-Jews, who differ not only in their religion but also in their customs. Most of the Jews are immigrants from many parts of the world who still retain many of the habits, customs and lifestyles of the societies they had lived in for many generations. We evaluated the LBW rate in these different groups. Jews and non-Jews have similar rates of LBW and similar mean birth weights. Other factors such as maternal age, parity, and hypertensive disorders of pregnancy showed some statistically significant differences. LBW rates increase from 6.9% in the babies of women aged 24-40 years to 8.5% in those less than 24 years, and 9.5% in those over 40. The risk of LBW was increased in primiparae to 10%. The highest rates were found in babies of mothers with hypertension. Pregnancy induced hypertension is associated with a LBW rate of 15.6% and chronic hypertension with a rate of 23%. Moderate and severe preeclampsia are important risk factors since they increase the rate to 15% and 47.1%, respectively.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Low birth weight in a heterogenic population. 274 41


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