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Biomedical subjects

D Haumont

Publications and source records attributed to D Haumont.

At least 19 recordsLinked to original sources
PubMed1998

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion.

We report on newborn monozygotic twins with a Noonan-like phenotype, and multiple congenital anomalies due to a monocentric recombinant chromosome 18. The mother carried a paracentric inversion of the long arm of chromosome 18, inv(18)(q21.1q22.3). Cytogenetic, fluorescent in situ hybridization, comparative genomic hybridization and DNA marker analyses allowed the delineation of the deleted (18q22.3-qter) and duplicated (18q12.1-q21.1) chromosomal regions in the recombinant chromosome 18, and suggest that this duplication-deletion chromosome 18 resulted from breakage of a dicentric recombinant chromosome 18 with subsequent reconstitution of telomeric sequences on the long arm. Marked variability is observed in the phenotypic expression of the same chromosomal anomaly in these monozygotic twins. The clinical findings of these patients are compared with those reported in proximal 18q-duplication and distal 18q-deletion patients. The clinical features of both infants are compatible with Noonan syndrome, suggesting that a locus for this syndrome may be located on the long arm of chromosome 18.

Chromosome Deletion↗
PubMed1997

[Neonatal screening for hemoglobinopathies in the Brussels region].

We realised this study in order to determine the frequency of abnormal haemoglobins and to appreciate the need for a neonatal screening for haemoglobinopathies in Brussels. Over a two year-period, 9575 cord blood samples were systematically screened. The study disclosed following results : 40% of newborns were from regions at risk for haemoglobinopathies and abnormal haemoglobins were present in 2.5% of the neonates tested. This frequency is similar to those reported elsewhere in North Europe. The most frequent abnormal haemoglobins were the Hb S, Bart's, C, D and E. Three cases of severe forms of sickle cell anaemia were identified. The frequency of abnormal haemoglobins and Hb S traits combined to the high rate of mixed marriages (16%) justifies the need for a universal screening for haemoglobinopathies in Brussels.

Belgium↗
PubMed1996

Congenital hypothyroidism and neonatal withdrawal syndrome.

UNLABELLED: We describe a neonate born of drug dependent parents. This observation documents the variability of expression in the neonatal abstinence syndrome and the interaction with an additional disease. CONCLUSION: The neonatal abstinence syndrome was masked by congenital hypothyroidism until thyroxine treatment had normalised cellular metabolism.

Congenital Hypothyroidism↗
PubMed1993

Prediction of cerebral palsy in high-risk neonates: a technetium-99m-HMPAO SPECT study.

In infants who have experienced prenatal or perinatal injury, it is often difficult, on the basis of clinical examination and conventional investigations (electroencephalogram, cranial ultrasound scan), to diagnose those with brain damage and to predict the type and the severity of subsequent neurological handicaps. We investigated the predictive value of 99mTc-HMPAO brain SPECT performed in the first weeks of life in high-risk neonates. Right-left asymmetries in tracer uptake had no predictive value, regardless of their localization or severity. On the other hand, a change in antero-posterior rCBF distribution was found in 7/10 of neonates with adverse outcome (death, major neurological sequelae) and in none of the 78 neonates with no major motor neurological sequelae. Compared to conventional investigations, 99mTc-HMPAO brain SPECT did not provide additional predictive information when neurological examination, electroencephalogram and cranial ultrasonography were all normal or all abnormal. Conversely, in the 30 patients with anomalies on one or two of the above investigations, SPECT showed an abnormal antero-posterior pattern in 4/6 neonates with major neurological sequelae and no change in the antero-posterior rCBF distribution in the 24 infants who developed normally. In conclusion, our results suggest that 99mTc-HMPAO brain SPECT, when performed in the first weeks of life, can be useful in high-risk neonates to predict occurrence of major neurological handicaps. Because of the relative invasive character of HMPAO scan in neonates and the overall accuracy of the noninvasive tests, radionuclide examination should not be performed in every high-risk neonate. According to our results, 99mTc-HMPAO brain SPECT might be indicated in those children where noncongruent results were obtained with conventional studies.

Cerebral Palsy↗
PubMed1992

Effect of liposomal content of lipid emulsions on plasma lipid concentrations in low birth weight infants receiving parenteral nutrition.

We studied the effects of phospholipid liposomes present in intravenously administered lipid emulsions on plasma lipid levels in preterm infants given 10% and 20% lipid emulsions. Twenty premature infants (birth weight 1454 +/- 54 gm) on a parenteral nutrition regimen received up to 4 gm triglycerides per kilogram per day in a 20% lipid emulsion for 2 weeks, and then received the 10% emulsion at 2 gm triglycerides per kilogram per day, which delivered the same total phospholipid load but twice the amount of liposomes. Triglyceride, total cholesterol, and phospholipid concentrations increased significantly when the infants were given 2 gm triglycerides per kilogram per day in the 10% emulsion rather than 4 gm/kg per day in the 20% emulsion (44 +/- 4 to 57 +/- 5 mg/dl, 134 +/- 6 to 162 +/- 9 mg/dl, and 204 +/- 8 to 251 +/- 10 mg/dl, respectively). Lipoprotein analysis indicated the presence of lipoprotein X-like particles in the low-density lipoprotein fraction and an increase of the intermediate-density lipoprotein fraction in infants who received the 10% emulsion. The presence of excess phospholipids in the 10% emulsion was associated with greater plasma lipid alterations. Therefore the use of 20% rather than 10% emulsion allows for more efficient triglyceride clearance, even at a higher triglyceride intake. Administration of emulsions that are relatively poor in phospholipid liposomes may allow delivery of > 2 gm triglycerides per kilogram per day to low birth weight infants.

Cholesterol↗
PubMed1992

Modifications of surfactant phospholipid pattern in premature infants treated with curosurf: clinical and dietary correlations.

Neonatal respiratory distress syndrome (RDS) is characterized by an immature surfactant phospholipid pattern. We aimed to study the evolution of surfactant phospholipids over a 6-day period, before and after surfactant replacement therapy with Curosurf, and to investigate possible interactions with exogenous phospholipids administered during total parenteral nutrition (TPN). Seventeen premature infants with RDS were randomly assigned to receive TPN with lipids or without (glucose group). Both groups showed a similar evolution of the surfactant phospholipids. At day 6, the surfactant composition had changed towards a mature human surfactant pattern except for phosphatidylglycerol which remained low (1%), compensated for by a high phosphatidylinositol and phosphatidylserine proportion (13.3%), Phospholipid subcomponents in plasma remained unchanged in both groups. Plasma total cholesterol (151 +/- 18 vs. 113 +/- 6 mg/dl, p less than 0.05) and cholesteryl esters (172 +/- 20 vs. 113 +/- 9 mg/dl, p less than 0.01) were higher in the glucose than in the lipid group. Total calorie intake was significantly higher in the lipid group (85 +/- 4 vs. 64 +/- 6 kcal/kg.day, p less than 0.01).

Biological Products↗
PubMed1989

Plasma lipid and plasma lipoprotein concentrations in low birth weight infants given parenteral nutrition with twenty or ten percent lipid emulsion.

Because 10% and 20% intravenously administered lipid emulsions (intralipid preparations) differ in their phospholipid/triglyceride ratio (0.12 and 0.06, respectively), 28 low birth weight infants requiring parenteral nutrition for at least 1 week were selected at random to receive either emulsion to determine the effects on plasma lipids and lipoproteins. Triglyceride intake was progressively increased to reach 2 gm/kg per day between days 4 and 7. During that period, all plasma lipids in samples taken 6 hours after infusion were higher in the 10% intralipid group. In comparison with day 0 values, triglyceride concentrations decreased (63 +/- 7 to 45 +/- 4 mg/dl; p less than 0.05) in the 20% group. Cholesterol levels increased in both groups, but the rise was more than twofold higher in the 10% group. Phospholipid increase was approximately 25% in the 20% group but more than 125% in patients receiving the 10% emulsion (p less than 0.005). The changes in plasma cholesterol and phospholipid levels were almost entirely in low-density lipoproteins. After 7 days, eight infants from each group were given the alternate emulsion, which resulted in a reversal of lipid patterns in each patient. We conclude that the higher phospholipid intake in 10% than in 20% intralipid is associated with higher plasma triglyceride concentrations and leads to accumulation of cholesterol and phospholipids in low-density lipoproteins. Emulsions with lower phospholipid content may be preferable for low birth weight infants and perhaps other patient populations with impaired removal of parenteral fat emulsions.

Cholesterol, HDL↗
PubMed1989

Functional imaging of brain maturation in humans using iodine-123 iodoamphetamine and SPECT.

The application of regional cerebral blood flow (rCBF) study by means of lipophilic radiotracers and single photon emission computed (SPECT) devices in very young infants is hampered by the considerable changes of rCBF pattern as a result of the cerebral maturation process. In an attempt to determine the normal evolution of [123I]IMP SPECT pattern as a function of age, we retrospectively selected the studies of 30 babies with normal clinical examination, EEG and CT or ultrasound scans at time of SPECT. There was a marked predominance of the thalamic perfusion over cortical areas until the end of the second month. The distribution of regional cortical activity followed a strict sequence. The perfusion of both parietal and occipital areas was well-visualized around the 40th week of gestational age and thereafter rapidly rose, always, however, with a slight predominance of the parietal activity. At the opposite, frontal activity which remained scarcely recognizable up to the second month tremendously rose to present the adult-like pattern at the beginning of the second year. The rCBF changes described above are well in agreement with the behavioral evolution occurring during prime infancy.

Amphetamines↗
PubMed1989

Brain single photon emission computed tomography in neonates.

This study was designed to rate the clinical value of [123I]iodoamphetamine (IMP) or [99mTc] hexamethyl propylene amine oxyme (HM-PAO) brain single photon emission computed tomography (SPECT) in neonates, especially in those likely to develop cerebral palsy. The results showed that SPECT abnormalities were congruent in most cases with structural lesions demonstrated by ultrasonography. However, mild bilateral ventricular dilatation and bilateral subependymal porencephalic cysts diagnosed by ultrasound were not associated with an abnormal SPECT finding. In contrast, some cortical periventricular and sylvian lesions and all the parasagittal lesions well visualized in SPECT studies were not diagnosed by ultrasound scans. In neonates with subependymal and/or intraventricular hemorrhage the existence of a parenchymal abnormality was only diagnosed by SPECT. These results indicate that [123I]IMP or [99mTc]HM-PAO brain SPECT shows a potential clinical value as the neurodevelopmental outcome is clearly related to the site, the extent, and the number of cerebral lesions. Long-term clinical follow-up is, however, mandatory in order to define which SPECT abnormality is associated with neurologic deficit.

Amphetamines↗
PubMed1987

Interactions between exogenous fat and plasma/lipoproteins.

Fat emulsions are essentially composed of triglycerides and phospholipids. Their elimination from the plasma--which is generally rapid--is influenced by the amount and the composition of both these components. During their short stay in the vascular compartment, exogenous particles undergo major compositional changes. They acquire various apolipoproteins--namely C-II, C-III, E and A-IV--by transfer from HDL. They also acquire esterified cholesterol from HDL and LDL and transfer exogenous triglycerides and phospholipids to these endogenous lipoproteins. These exchanges are affected by the type of triglyceride fatty acids and the amount of phospholipids present in fat emulsions, as well as by the infusion rate. Some 10% of emulsions--with a high phospholipid: triglyceride ratio--contain a huge phospholipid excess which can be isolated as a separate fraction from the triglyceride-rich particles. These phospholipids markedly interfere with the metabolism of cholesterol and the plasma lipoprotein profile.

Cholesterol↗
PubMed1983

The Mohr syndrome: are there two variants?

Two female siblings with the oral-facial-digital type II syndrome, or Mohr syndrome, presented an associated brain malformation: the Dandy-Walker syndrome. Up till now, patients with the Mohr syndrome have been considered to be free of mental deficits and/or brain defects. After reviewing the literature and considering the current criteria for OFD type II syndrome, other possible cases of Mohr syndrome associated with brain abnormality are discussed.

Abnormalities, Multiple↗