Biomedical subjects
Publications and source records attributed to P Sarda.
We report the molecular diagnosis of Duchenne muscular dystrophy (DMD) in an extended pedigree by use of a conformational polymorphism detected by the SSCP method, which allowed direct prenatal diagnosis and carrier detection while no DNA from an affected boy was available.
OBJECTIVE: To determine the reliability of bioelectrical impedance analysis, and to compare and contrast the anthropometric and BIA status of newborns. DESIGN: BIA and anthropometric parameters were compared in the few days after birth and at about 3 weeks of age. SETTING: At the maternity hospital or in a paediatric care unit. SUBJECTS: Small- or appropriate-for-gestational-age newborns, with birth weight below or above the 10th percentile of the reference value, respectively. Measurements were performed on 36 and 47 newborns at birth, and for a subgroup (21 and 11) again about 3 weeks later, respectively. RESULTS: At birth, length2/resistance was 4.3 +/- 0.6 and 6.1 +/- 1.2 cm2/omega (P = 10(-7)), and at 3 weeks of age length2/resistance was 5.0 +/- 0.6 and 5.7 +/- 0.8 cm2/omega (P = 0.11), for small- and appropriate-for-gestational-age newborns, respectively. Percentage reliability was 2.2% and 2.6% for intra- and inter-observer measurements of resistance. Importance of a correct placement of the sensor electrode was demonstrated. CONCLUSIONS: Ease of measurement and reliability of BIA in neonates were shown. Evolution of BIA values is in agreement with the known increase in total body water linked to regrowth of cell mass in small-for-gestational-age infants. Additional study is required before BIA should be used in usual clinical setting in newborns due to the lack of prediction equation.
Two cases of cardiac rhabdomyoma have recently been observed in foetuses. The cardiac and muscular nature of the cells was confirmed by immunohistochemistry using monoclonal antibodies. A review of the literature shows that cardiac rhabdomyomas are usually considered to be hamartomas which are composed of primitive myocardial cells. Their spontaneous regression is often observed and apoptosis has been proposed as a possible mechanism of such a phenomenon. We propose that cardiac rhabdomyomas should be better considered as developmental vestiges rather than as true hamartomas. These vestigial structures would result either from a defect in differentiation, or from a defect in regression of primitive myocardial cells.
delta 6- and delta 5-Desaturation of essential fatty acids of n-6 and n-3 series are required for the biosynthesis of polyunsaturated fatty acids (PUFAs), which are precursors of eicosanoids and constituents of membrane phospholipids. This pathway could be of special importance during the perinatal period, when PUFAs accretion in the central nervous system is very active. However, experimental evidence of delta 6- and delta 5-desaturase activities in man is very scarce, and no data are available for newborns. We report the delta 6- and delta 5-desaturase activities detected in human liver microsomes from three neonates who died from associated malformations. Radiochemical assays of delta 6- and delta 5-desaturase activities performed with reverse phase HPLC analysis of the products in the n-6 series ranged from 4.8-13.6 to 3.2-16.4 pmol substrate converted.min-1.mg-1 microsomal proteins, respectively. In the n-3 series delta 6-desaturase activity ranged from 5.3 to 12.8 pmol.min-1.mg-1. The relationships between enzyme activities and substrate concentrations suggest excess substrate inhibition for n-6 and not for n-3 fatty acids. These results demonstrate significant delta 6- and delta 5-desaturase activities in human liver of neonates, but this activity was lower than previously reported in adult humans and in mammals, especially rodents.
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The present study addresses the question whether nervonic acid (24:1n-9) accumulation in sphingomyelin (SM) of red blood cells (RBC) could yield information on cerebrum maturation in premature infants. The study included 28 premature eutrophic infants of 31.5 wk gestational age. Eleven were fed with human milk, nine with a regular formula and eight with an alpha-linolenate-enriched formula. The fatty acid composition of the SM fraction was determined by gas-liquid chromatography on a 50-m fused silica capillary column. At 32 wk gestational age, the main fatty acids in SM were 16:0, 18:0, 20:0, 22:0, 24:0 and 24:1n-9. After five weeks of feeding, at week 37 of postconceptional age, the most striking variation was a rise in 24:1n-9, from 9.9 +/- 0.7 to 12.8 +/- 0.9 (P < 0.02), regardless of regimen in all three feeding groups. The rise in 24:1n-9 after birth in premature eutrophic infants is the beginning of a trend toward the higher levels in 24:1n-9 observed in mature newborns and older infants. The 24:1n-9 level in SM of RBC from premature infants may reflect 24:1n-9 levels in SM of brain and could thus reflect brain maturity.
We report the case of a male fetus with an oto-palato-digital (OPD) type II syndrome and multiple congenital anomalies (MCA) including omphalocoele, hypospadias, thoracic dysplasia, skeletal abnormalities, pulmonary hypoplasia and an absent right adrenal gland. These MCA are sometimes reported in Melnick-Needles syndrome, which leads us to discuss the possibility that the spectrum of malformations in these two syndromes might be due to two allelic forms of the same X-linked gene.
Linkage analysis was performed in a three generation family with three males affected by the recently delineated X-linked form of alpha-thalassemia/mental retardation syndrome (ATR-X). Results are in agreement with the linkage study reported by Gibbons et al in 1992 and further confirm that the ATR-X gene is located in proximal Xq. Positive LOD scores were obtained for several markers situated in the pericentromeric region. A maximum LOD score of 2.09 at a recombination fraction of 0 was obtained for DXS453 located at the boundary q12-q13.1. The nearest flanking loci demonstrating recombination with the disease locus were AR at Xq11.2-q12 on the centromeric side and DXS72 at Xq21.1 on the telomeric side. Consequently the authors were able to reduce the previously defined candidate region for the gene location. Their results are compatible with a distal boundary at Xq21.1 instead of q21.31.
Three male patients with X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome in a large French family are reported. Diagnosis was suspected on particular craniofacial dysmorphism associated with severe mental retardation and X-linked transmission. Hematological investigations, and in particular presence of Hb H inclusions in two of the boys, confirmed diagnosis. The clinical, hematological and radiological features are discussed in order to better define what appears to be a characteristic phenotype.
In relation to a case of pulmonary candidiasis in a seventeen week fetus, the authors review the cases of fetal candidiasis not resulting from contamination during delivery.
In this paper, we describe the outcome of 33 triplet pregnancies referred to us between 1985 and 1990. They were managed as follows: management at home as soon as the diagnosis was made, then hospitalization at 28 weeks' gestation. Progesterone and beta-mimetics were administered daily, a cesarean section was always performed. One late abortion occurred at 21 weeks. The rate of prematurity was 90.6%, mean gestational age at delivery was 34.1 +/- 3 weeks, and 62.5% of deliveries occurred between 34 and 37 weeks. Ninety-four fetuses were delivered alive. Mean birth weight was 1880 +/- 410 g. Fetal growth retardation rate was 61.8%, including 28 infants under the third centile and 31 under the 10th centile. Perinatal death rate was 4.16% including 2 in utero deaths and 2 neonate deaths. All infants are healthy except for one child with severe mental retardation. These results show that triplet pregnancies can be safely managed, and that selective first-trimester reduction in triplet pregnancies does not appear to be necessary.
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We describe the case of a female infant with multiple congenital anomalies who was found to have a de novo distal intestinal del (1) (q32 q42). The clinical features of other reports of similar deletions are briefly reviewed. No characteristic phenotype seems to be as yet definable due to the limited number of cases published.
We report the first case of an interstitial deletion of the distal long arm of chromosome 4 (q31.22----q34.2). The major clinical features are described and compared to those of other published reports of del 4q, mainly those sharing a common deleted segment with the present case (both interstitial and terminal). This comparison suggests that the characteristic phenotype attributed to terminal deletions of 4q31----qter probably mainly results from loss of the segment q31----q33-34.
Brainstem auditory evoked responses (BAER) were recorded in 89 neonates born between 32 and 40 weeks, in order to analyze the consequences of intrauterine growth retardation on brainstem conduction time. The I-V interval was measured in 28 appropriate for gestational age (AGA) infants (control group), in 24 small for gestational age (SGA) infants with maternal hypertensive disease (MHD) and in 37 SGA infants without MHD. At any gestational age, SGA infants with MHD always presented an acceleration of their brainstem conduction time as compared to the other SGA infants. For the SGA full-term twins without MHD, the brainstem conduction time was delayed. These results reflect the specific consequences on brainstem development of the various factors responsible for intrauterine growth retardation (IURG).
It has been suggested that partial distal 2p2----2pter duplication causes a relatively well defined clinical syndrome, mostly as regards craniofacial dysmorphism, musculoskeletal and genitalia anomalies. Duplications covering a larger portion of 2p i.e. 2p12 or 2p13----2pter are however less documented. The authors report a new case of partial 2p13----2pter duplication which supplies further evidence for short life expectancy due to the large number of malformations in these partial duplications.
Acrocephalosyndactyly type I or Apert syndrome is characterized by craniosynostosis, particular dysmorphic features and abnormalities of the hands and feet. Rarely, polydactyly of the toes has been reported, and in this event the diagnosis of Carpenter syndrome must be discussed. A case of atypical Acrocephalosyndactyly type I syndrome with partial preaxial polydactyly is reported. Despite this preaxial polydactyly a diagnosis of Apert syndrome consecutive to a new mutation was made, and the possibility of recurrence considered to be highly improbable.
The effects on plasma lipoproteins of four fat-modified diets were assessed in 11 nuns in a contemplative order in the Mediterranean region of Spain. Diet 1 [high polyunsaturated fatty acid (PUFA), low monounsaturated fatty acid (MUFA), low ratio of PUFAs to saturated fatty acids (P:S)] and diet 3 (low PUFA, high MUFA, low P:S) induced significant, directly comparable reductions in total plasma (12% and 13%, respectively) and low-density-lipoprotein (LDL) cholesterol (24% and 19%, respectively). Diet 2 [high PUFA, high MUFA, low saturated fatty acid (SFA), high P:S] induced greater decrements (23% and 30% in total plasma and LDL cholesterol, respectively). Diet 4 (low PUFA, low MUFA, high SFA, low P:S) induced a significant increase in LDL cholesterol of 11%. No significant changes in high-density-lipoprotein cholesterol were observed with these diets. Because the effects of PUFAs and MUFAs are comparable, no recommendations on modifying the habitual, high-MUFA-containing Mediterranean diet need be made other than, perhaps, a reduction in the overall intake of SFAs.