Potential co-existence of haemophilia A and B carrier status in two sisters.
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Chorionic Villi Sampling↗
Biomedical subjects
H Bonnet
Publications and source records attributed to H Bonnet.
Free cortisol of human plasma in the first three months of life.
Total cortisol as well as percentage and absolute free cortisol values were determined in 75 full-term, 88 premature and 38 small-for-age (born at term) infants in the first 3 months of life. Equilibrium dialysis and radioimmunoassay were used to estimate the percentage value of the unbound fraction and the value of total cortisol from which absolute free cortisol level was calculated, respectively. A systematic decrease in the free cortisol value was observed in all the three groups of infants during the study period (in full-term infants from 32.3 to 19%, in prematures from 36.6 to 20.8%, and in small-for-age infants from 32.3 to 19.2%). A comparison between the percentage values of free cortisol in the groups studied revealed only slight differences which were not significant. The absolute free cortisol values in full-term infants were highest immediately after birth (4.05 micrograms/dl), then they fell to the lowest level of 0.67 micrograms/dl observed between the third and fifth days of life, and increased afterwards reaching the level of 1.89 micrograms/dl in the third month. The absolute free cortisol values in premature newborns at 3-5 days of life exceeded the values observed in full-term subjects. The pattern of free cortisol in the prematures seems to be 'delayed' as compared with that in full-term newborns. The absolute free cortisol values in small-for-age infants were much more similar to those found in the full-term subjects, than to those in premature babies.
Female↗
[Why always talk about nutrition?].
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Deficiency Diseases↗
[So-called uremic heart diseases].
The overall cardiovascular mortality in patients with chronic renal failure is about 30 per cent of which 10 per cent is attributed to myocardial infarction. This prevalence led some workers to propose a hypothesis of "accelerated atherosclerosis" due to the hyperlipidaemia observed in 30 to 70 per cent of patients. However, the concept of accelerated atherosclerosis, which was based essentially on clinical studies, has been questioned. Pericardial effusion is a common complication of chronic renal failure and has been reported in over 62 per cent of patients in echocardiographic studies. There are many causes and symptoms are often mild; systematic echocardiographic examination of patients with renal failure undergoing haemodialysis has shown 32 per cent of pericardial effusions to be asymptomatic. There are two potential complications: cardiac tamponade and, lesser frequently, constrictive pericarditis. Cardiac failure is a common cause of death in patients undergoing long-term dialysis. The myocardial histological appearances are those of fibrosis, the etiology of which is not fully understood although the dialysis membranes and hypotensive episodes occurring during haemodialysis have been thought to play a role. Left ventricular hypertrophy and fibrosis may give rise to ventricular arrhythmias which could explain some of the cases of sudden death observed in patients with renal failure and often wrongly attributed to ischemic heart disease. Another form of myocardial disease which is observed later is characterised by an alteration of systolic function with left ventricular dilatation and hypokinesia and increased end diastolic pressures without an increase in left ventricular wall thickness. Valvular heart disease may also result from renal failure.(ABSTRACT TRUNCATED AT 250 WORDS)
Cardiomyopathies↗
[Transient reduction of ventricular tachycardia with adenosine-5'-triphosphate. A possible action of ATP on purinergic receptors].
The authors report the case of a 46 year old man in whom a regular, wide complex tachycardia was terminated temporarily by the injection of adenosine-5'-triphosphate (ATP:Striadyne); endocavitary electrophysiological studies showed the tachycardia to be of ventricular origin. After aminophylline, an inhibitor of certain purinergic receptors, the tachycardia could be reproduced at will and was sustained whereas only short runs of tachycardia could be induced under basal conditions. The mode of action of the ATP on this type of tachycardia could be a direct effect of the molecule on the purinergic receptors specifically inhibited by aminophylline.
Adenosine Triphosphate↗
[Late myocardial infarction after closure of coronary artery fistula].
Congenital coronary cardiac fistulae are rare conditions for which surgery is the usual indication. The authors report on the case of one female patient of 28 years with a coronary cardiac fistula responsible for exertional dyspnoea and relapsing pulmonary infections. The diagnosis was suggested by a continuous murmur and was confirmed by Doppler echocardiography and catheterization which showed a dilated, sinuous circumflex artery (2 cm) leading into the right atrium. Surgical closure of the fistula was complicated by an early myocardial infarction and a relapse in the same area with resulting mitral insufficiency. The surgical treatment of coronary cardiac fistulae is widely documented in the literature and recent series demonstrate that good results are usually obtained: however, a late infarction has not been described. The constitution of thrombi in the collateral vessels deriving from the distended vessel probably accounts for the particular evolution noted in this specific case.
Adult↗
[DNA amplification in the study of polymorphisms linked to the cystic fibrosis gene].
The highly specific polymerase chain reaction recently described can be used to amplify selectively several polymorphic regions of DNA genetically close to the cystic fibrosis gene. This method, providing automated, revolutionizes the classical methods of prenatal diagnosis and carrier detection.
Chromosomes, Human, Pair 7↗
[Detection of deletions by the amplification of exons (multiplex PCR) in Duchenne muscular dystrophy].
The polymerase chain reaction is a new powerful method for in vitro cloning of specific regions of DNA. The use of the heat-stable DNA polymerase made the reaction amenable to automation. This method greatly facilitates the detection of mutations which are responsible for Duchenne muscular dystrophy, via DNA amplification of multiple deletions prone exons from the DMD gene.
Chromosome Deletion↗
[Conradi-H:unermann chondrodysplasia punctata and fetal alcoholism].
Fetal alcoholism induces an extremely wide spectrum of embryopathies. In addition to the classical fetal alcohol syndrome, alcohol is also the cause of numerous fetal malformations. A case of Conradi-Hünermann type chondrodysplasia punctata is reported. Maternal alcohol ingestion was reported during gestation.
Abnormalities, Multiple↗
[F.G. syndrome: a rare and/or extremely polymorphic syndrome?].
We report a case of mental retardation associated with multiple congenital anomalies suggesting an F.G. syndrome. We discuss problems concerning genetic counselling and the management of future pregnancies. Unfortunately, no concrete strategy, concerning prenatal diagnosis, can be proposed.
Abnormalities, Multiple↗
[The CHARGE association].
The CHARGE association includes a group of several malformations, and always a coloboma and/or choanal atresia. We present 8 cases of this syndrome, 5 complete and 3 incomplete forms. Prognosis at term seems severe, considering the visceral malformations (namely cardiac) and the cerebral handicap often associated. In most cases the CHARGE association is a sporadic event; however, one cannot exclude the possibility that certain forms follow a Mendelian pattern of inheritance. The mechanisms leading to this association have not yet been elucidated: it is probably due to migration abnormalities of the neural crests as in the VATER association of Di George syndrome.
Abnormalities, Multiple↗
[Hereditary congenital lymphedema with pseudosexual ambiguity].
A case of uncommon genital lymphedema in a newborn girl like a pseudo sexual ambiguity is reported. The karyotype was 46, XX. Lymphedema of the lower limbs in the patient and in the mother's family confirmed a None-Milroy disease. Different considerations about genetic counseling in hereditary lymphedema, isolated or associated with others anomalies, are developed.
Disorders of Sex Development↗
[Interstitial deletion in the long arm of chromosome 7].
An interstitial deletion of 7q (q31.2-q32.3) is reported. Main features of this boy included facial dysmorphy, psychomotor retardation and absence of language.
Chromosome Deletion↗
[Intraventricular hemorrhage in the newborn infant at term: thalamic origin].
Four observations of intraventricular hemorrhage in full term neonates without perinatal asphyxia are reported. The clinical pictures were remarkably similar in the four infants: neurological symptoms developed several days after birth with sunsetting and eye deviation and symptoms of cranial hypertension. Ultrasonography and CT scan showed a thalamic hemorrhage.
Cerebral Hemorrhage↗
[Transient symptomatic neonatal hyperammonemia].
Premature newborns suffering from respiratory distress and asphyxiated term newborns may present transient symptomatic neonatal hyperammonemia associated with reversible neonatal coma. As they survive they may develop normally; however the authors emphasize the importance of concomitant hemodynamic disorders and the extreme frequency of brain hemorrhage and ischemia. Ultrasonography or tomodensitometry are necessary for prognosis.
Ammonia↗
[Brain abscess in the neonatal period].
Cerebral abscess is considered as a rare lesion with severe prognosis in neonates. The present means of cerebral imaging allow for a better estimation of its frequency, a more precise diagnosis of the evolutive stage and the estimation of the efficacy of the treatments. Incision-drainage associated with antibiotic treatment was successful in children. Two cases of neonatal cerebral abscesses treated and cured according to this protocol are reported.
Anti-Bacterial Agents↗
Isolated fourth ventricle: ultrasonic diagnosis and follow-up.
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Cerebral Aqueduct↗
[Reinfection after rubella and congenital polymalformation syndrome].
A case is reported of a term newborn with intra uterine growth retardation and numerous malformations such as complex heart disease, abnormalities of distal limbs, cleft palate. Death occurred after two days. The diagnosis of rubella embryopathy was confirmed by the following criteria: a high level of rubella antibodies in mother and newborn (1/1000) an isolation of rubella virus from the infant's urine. Diagnosis of rubella after reinfection was documented by a high level of antibodies in the mother three years before this pregnancy. Other observations reported in literature confirm the extreme rarity of congenital rubella after reinfection.
Abnormalities, Multiple↗