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Biomedical subjects

P Sarda

Publications and source records attributed to P Sarda.

At least 37 records · Page 2Linked to original sources
PubMed1999

Longitudinal multicentric study of plasma and red blood cell fatty acids and lipids in preterm newborns fed human milk.

The present multicentric study (three centers) deals with the values of plasma and red blood cell fatty acids obtained in a group of 18 preterm newborns after 2 days (D2), 15 days (D15) and 5 weeks (37th week postconception: 37th wk) of human milk feeding. Analytical methods were randomized between the three centers and quality control was evaluated by repeated analysis of reference samples. 20:4 n-6 varied from 10.71 +/- 1.58% to 9.51 +/- 1.65 and 10.10 +/- 1.42% in plasma phospholipids and from 16.59 +/- 3.30% to 14.68 +/- 3.14 and 18.24 +/- 4.09% in red blood cell phosphatidylethanolamine (RBC-PE) at D2, D15 and 37th wk, respectively, contrasting with the important rise of the precursor (18:2 n-6) in all the fractions studied. In RBC-PE, 22:6 n-3 significantly declined from 3.52 +/- 1. 03% at D2 to 2.56 +/- 0.83% at D15 (p < 0.02) and recovered its initial level at 37th wk (4.08 +/- 1.94%). The recovery of long chain polyunsaturated fatty acid homeostasis at that time was also confirmed by the decline of 16:1 n-7 in cholesterol esters (10.69 +/- 3.92 to 4.32 +/- 2.38%).

Cholesterol↗
PubMed1999

Clinical profile of multiple sclerosis in Bengal.

Forty five patients of multiple sclerosis diagnosed on the basis of Poser's criteria from West Bengal were studied. The male-female ratio was 1:1.5, mean age of onset 31.83 years in male and 29.11 years in females. The maximum cases were between the 3rd and 4th decade. Definite MS comprised of 60%, while remaining 40% were probable. Visual impairment (53.33%), weakness of limbs (31.11%) and sensory paraesthesia (20%) were the common presenting symptoms whereas pyramidal tract involvement (93.33%) with absent abdominal reflexes (90%) and optic pallor (64.44%) were common signs. Posterior column and spinothalamic sensations were involved in 55% and 51% of cases respectively. Inter-nuclear ophthalmoplegia was present in 6.66% of cases. Pattern of involvement commonly showed three or more sites of lesion. Optico-spinal affection was present in 22.2% of cases. Relapsing and remitting course was found in 48. 91%, relapsing and progressive course in 33.33% and chronic progressive in 17.8%. MRI of brain showed positive results in 16 out of 23 cases. CSF study showed increased positivity in estimation of immunoglobulin level than oligoclonal band. Findings revalidate the disease pattern as being similar to that in other parts of India as well as Asia.

Adult↗
PubMed1998

Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test.

Data from 6 years of experience in molecular diagnosis of Duchenne (DMD) and Becker (BMD) muscular dystrophy in Southern France are reported. DMD and BMD patients have been extensively analyzed for deletions and for point mutations in the dystrophin gene. By scanning the whole coding sequence as reverse-transcribed from lymphocytes or muscular RNA by the protein truncation test, we have reached a minimum of an 86% detection rate for point mutations responsible for DMD; these mutations consist of nonsense, frameshifting, and splicing mutations. Four of 12 small alterations identified in our sample are novel and described in this study. We also present an improved protocol for the automated detection of fluorescently labeled duplex polymerase chain reactions of six known intragenic microsatellites (Dys II, TG 15, STRs 44, 45, 49, and 50). Accurate sizing of the alleles at each locus was performed, and we elucidated the sequence of several repeat units. Allele frequencies at each of the six microsatellite loci and at one restriction fragment length polymorphism site (intron 16/TaqI) were defined in a sample of normal, DMD, and BMD X chromosomes from Southern France. The determination of the grandparental origin of either deletions or point mutations revealed differences depending on the type of the mutation, with most of the deletions occurring in oogenesis and most of the point mutations occurring in spermatogenesis.

Blotting, Southern↗
PubMed1998

Fatty acid desaturase activities and polyunsaturated fatty acid composition in human liver between the seventeenth and thirty-sixth gestational weeks.

OBJECTIVE: The aim of the study was to characterize n-3 and n-6 fatty acid delta5- and delta6-desaturase activities and their time course variations in human fetal liver between the 17th and 36th gestational week. STUDY DESIGN: Twenty-one biologic samples were obtained after legally approved medical abortion, according to French law. The desaturase activities were measured in the 21 liver samples by a radiochemical method by means of reverse-phase high-performance liquid chromatography. The fatty acid composition (percentage by weight) of liver phospholipids was assessed in 16 samples by gas-liquid chromatographic analysis. RESULTS: Both delta5- and delta6-desaturase activities were significantly expressed between the 17th and 36th gestational weeks. During the second trimester n-6 fatty acid delta5- and delta6-desaturase activities showed opposite patterns of variation; both then remained stable between the 25th and 36th weeks. Delta6-desaturation was higher in n-3 than n-6 fatty acids and peaked at the 18th gestational week. The percentages of linoleic and docosahexaenoic acids in liver microsomes were positively correlated with the gestation age (P < .01), whereas arachidonic acid remained stable. CONCLUSION: Significant n-3 and n-6 delta5- and delta6-desaturase activities are expressed in human fetal liver as early as the 17th gestational week and are stable throughout the third trimester. Their theoretic capacity evaluated from in vitro measurements appears lower than polyunsaturated fatty acid requirements and is not directly related to liver microsomal membrane fatty acid composition.

Arachidonic Acid↗
PubMed1998

Pallister-Killian syndrome [i(12p)]: first pre-natal diagnosis using cordocentesis in the second trimester confirmed by in situ hybridization.

Pallister Killian syndrome (PKS) is the most frequent form of partial autosomal tetrasomy 12p in humans. Sufferers have a mosaic of isochromosome 12p [i(12p)]. We report the first pre-natal diagnosis on fetal blood cells after cordocentesis during the second trimester. The extra chromosome was first diagnosed by in situ hybridization. Fluorescence in situ hybridization (FISH) was used to count the interphase and/or metaphase cells containing the isochromosome. A review of the literature identified 27 other reports of PKS diagnosed pre-natally. We showed that the most consistent pre-natal ultrasound findings include hypertelorism, broad neck, shorts limbs, abnormal hands or feet, diaphragmatic hernia and hydramnios. Recognition of this congenital malformation pattern pre-natally may allow utilization of FISH.

Adult↗
PubMed1998

Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association.

Del(22q11) is a common microdeletion syndrome with an extremely variable phenotype. Besides classical manifestations, such as velocardiofacial (Shprintzen) or DiGeorge syndromes, del(22q11) syndrome may be associated with unusual but probably causally related anomalies that expand its phenotype and complicate its recognition. We report here three children with the deletion and a chronic, erosive polyarthritis resembling idiopathic cases of juvenile rheumatoid arthritis (JRA). Patient 1, born in 1983, initially presented with developmental delay, facial dysmorphism, velopharyngeal insufficiency, and severe gastro-oesophageal reflux requiring G tube feeding. From the age of 3 years, he developed JRA, which resulted in severe restrictive joint disease, osteopenia, and platyspondyly. Patient 2, born in 1976, had tetralogy of Fallot and peripheral pulmonary artery stenosis. She developed slowly, had mild dysmorphic facial features, an abnormal voice, and borderline intelligence. JRA was diagnosed at the age of 5 years. The disorder followed a subacute course, with relatively mild inflammatory phenomena, but an extremely severe skeletal involvement with major osteopenia, restrictive joint disease (bilateral hip replacement), and almost complete osteolysis of the carpal and tarsal bones with phalangeal synostoses, leading to major motor impairment and confinement to a wheelchair. Patient 3, born in 1990, has VSD, right embryo-toxon, bifid uvula, and facial dysmorphism. She developed JRA at the age of 1 year. She is not mentally retarded but has major speech delay secondary to congenital deafness inherited from her mother. In the three patients, a del(22q11) was shown by FISH analysis. These observations, and five other recently published cases, indicate that a JRA-like syndrome is a component of the del(22q11) spectrum. The deletion may be overlooked in those children with severe, chronic inflammatory disorder.

Adult↗
PubMed1998

Delta6- and delta5-desaturase activities in the human fetal liver: kinetic aspects.

Delta6- and delta5-desaturase activities were studied in human fetal liver microsomes obtained after legally approved therapeutic abortion. Enzyme activities were measured by a radiochemical method using reverse-phase high performance liquid chromatography (HPLC). Free and phospholipid fatty acids were assessed in each liver sample by a combination of thin-layer chromatography (TLC) and gas-liquid chromatography (GLC) procedures. The kinetic measurements showed higher delta6-desaturase activity for the n-3 series than for the n-6 series. Apparent Km of 6.5, 3.9, and 24.5 microM and Vm of 7.5, 9.1, and 24.4 pmol x min(-1) x mg(-1) were obtained, respectively, for 18:2n-6 delta6-, 20:3n-6 delta5-, and 18:3n-3 delta6-desaturases. Beyond 30, 20, and 60 microM of 18:2n-6, 20:3n-6, and 18:3n-3 concentration, respectively, the enzyme activity deviated from Michaelis-Menten kinetics, suggesting an inhibition by excess substrate which is unlikely to occur in vivo as endogenous substrate concentration is much lower. We observed a breakdown in linearity between desaturase activity and microsomal protein concentration beyond 4-5 mg microsomal protein, whatever the enzyme or substrate. Both this phenomenon and the inhibition due to excess substrate should be taken into account in the determination of delta6- and delta5-desaturase activities. Comparison of concentrations of the respective endogenous substrates and the kinetic constants of each enzyme suggested that the higher delta6-desaturase activity observed for the n-3 series than for the n-6 series is not physiologically relevant in human fetal liver.

Delta-5 Fatty Acid Desaturase↗
PubMed1997

Blastogenesis dominant 1: a sequence with midline anomalies and heterotaxy.

Lateralization defect is a heterogeneous condition with different modes of transmission (autosomal recessive, dominant or X-linked). Here, we report on 3 additional families that contribute to the description of phenotypic anomalies of the autosomal dominant type. Phenotypic anomalies include: lateralization defects, cardiac malformations, diaphragmatic hernia, urologic and neurologic anomalies. We suggest calling this sequence BGD1 for blastogenesis dominant 1 because the deleterious effect probably occurs during blastogenesis and involves not only lateralization but other defects as well.

Abnormalities, Multiple↗
PubMed1997

Lack of evidence for connexin 43 gene mutations in human autosomal recessive lateralization defects.

Heterotaxy is the failure of the developing embryo to establish normal left-right asymmetry, which is often associated with multiple malformations. Previous studies have identified different mutations in the cytoplasmic tail of the connexin 43 (cx 43) gene in six patients from a series of six sporadic cases with defects of laterality and severe heart malformations. These cases showed that of the genes involved in lateralization defects with autosomal recessive transmission, cx 43 was the most important. This result was challenged by two different teams, which, on sequencing only the carboxyl terminal end of the cx 43 gene in 30 patients, found no mutations. To assess the responsibility of the cx 43 gene in human autosomal recessive lateralization defects, we tested its involvement in a selected group of 25 patients (19 familial cases) with a wide variety of lateralization defects and cardiovascular malformations. The whole coding sequence and direct flanking sequences were screened for mutations, both by single strand conformation analysis and direct fluorescent sequencing. We could only detect a single base pair insertion in the 3' untranslated region of one patient. To test the possibility of mutations in other parts of the cx 43 gene, the gene was located onto the physical map of chromosome 6, and flanking polymorphic markers were genotyped. Haplotype analysis excluded the cx 43 gene locus in nearly all of the familial cases of lateralization defects. Thus, our results do not support the suggestion that this gene is implicated in human autosomal recessive lateralization defects.

Abnormalities, Multiple↗
PubMed1997

Effects of preterm infant formula supplementation with alpha-linolenic acid with a linoleate/alpha-linolenate ratio of 6: a multicentric study.

OBJECTIVE: To investigate the effects of a milk formula supplemented with a alpha-linolenic acid (ALA) (18:2 n-6/18:3 n-3 ratio near 6/1) on plasma and red blood cell (RBC) fatty acids (FAs) in premature infants and compare with a non supplemented formula (18:2 n-6/18:3 n-3 = 22/1). DESIGN AND SUBJECTS: Infants of mothers who elected not to breast-feed were randomly assigned to either a high alpha linolenic formula (HLF: n = 31) group or a low alpha-linolenic formula (LLF: n = 32) control group. Infants fed human milk (HM: n = 25) were enrolled concurrently as a reference group. Anthropometric and biological measurements were made after two days (D2) and 15 d (D15) of enteral feeding and at the 37th week (W37) of postconceptual age. In HLF, the 18:3 n-3 content was 1.95% of total FAs (0.77% of total energy) and the 18:2 n-6/18:3 n-3 ratio was near 6/1. In LLF, the 18:3 n-3 content was 0.55% of total FAs (0.22% of total energy) and the 18:2 n-6/18:3 n-3 ratio was 22/1. RESULTS: ALA supplementation had minimal effect on the n-6 series, did not alter the anthropometric data and confirmed the conversion of ALA into docosahexaenoic acid (DHA). Throughout the study, it maintained, the RBC membrane DHA values within the confidence interval of those obtained in the HM group. Such was not the case with LLF CONCLUSION: alpha-linolenic acid supplementation (from Rapeseed oil and in a 18:2 n-6/18:3 n-3 ratio = 6) in premature infant formula can contribute efficiently to the maintenance of the n-3 status in the premature newborns.

Chromatography, Gas↗
PubMed1997

[Trends in therapeutic abortion management from 1986 to 1994].

OBJECTIVE: This study was performed in order to evaluate indications, techniques and maternal risks of medical abortions, and technical difficulties encountered in these procedures. TYPE OF THE STUDY: A monocentric, descriptive and retrospective study. MATERIALS AND METHODS: Four hundred seventeen medical abortions (MA) were performed in our fetal medicine Unit between 1986 and 1994, including 117 (28%) performed for maternal reasons and 300 (72%) for fetal reasons. Each indication was discussed in a collegial system and varied protocols of labor induction were used, mainly prostaglandins, RU 486, or feticide. MAIN PARAMETERS MEASURED: They were duration of the labor, maternal accidents, number of the fetal post-mortem examinations, counselling given to the couples. We considered that a MA is correctly managed when the intervention corresponded to the following criteria: expulsion by natural route without uterine damage, an examinable fetus and examination by a foetopathologist. MAIN RESULTS: Mean rate of MA satisfying our definition was about 45% in 1988 and reached to 74% in 1994. Our results show that the procedure is rarely complicated and that vaginal expulsion can be obtained. The foetopathologist examination rate increased regularly over the period. The mean gestational age of MA due to maternal indications was 14.5 weeks vs 23.9 weeks when dealing with fetal indications. The infection rate is about 6.2%, hemorrhage rate following expulsion was about 5.9% and the rate of uterine rupture was about 0.48%. CONCLUSIONS: These data suggest that medical abortion need to be evaluated regularly.

Abortion, Therapeutic↗
PubMed1997

[Congenital adenomatoid cystic malformation of the lung and renal polycystosis. A fetal case report and review of the literature].

We observed a plurifocal cystic adenomatoid malformation of the lung, Stocker class II, in a 21-week gestation fetus in association with polycystosis of a solitary medial kidney. There was no other notable abnormally. The caryotype could not be obtained. The association of these two congenital malformations is exceptional, only three similar cases have been reported in the literature. Two other cases of pulmonary adenomatoid malformations associated with nephromegaly with renal hyperlobulation have also been described. Whether this is a fortuitous association or not remains to be determined.

Abnormalities, Multiple↗
PubMed1996

Relationships between red blood cell vitamin E and polyunsaturated fatty acid in the premature infant.

Low-birth-weight infants were fed breast milk (BM, n = 25) for 1 of 2 formulas containing 0.5 (PG, n = 32) or 1.7% fatty acids as alpha-linolenic acid (ALA)(ALA-PG, n = 31). Polyunsaturated fatty acids (PUFA) and alpha-tocopherol (alpha T) of RBC membrane phospholipids were measured at days 2 (D2) and 15 (D15) of enteral feeding, and at term. PUFA concentrations did not differ significantly between the 3 groups from D2 to term. The membrane integrity assessed by the alpha T/phospholipids ratio neither changed with time nor differed between formula groups. A metabolic relationship between alpha T and long-chain PUFA in RBC membranes was suggested by multiple regression analysis: alpha T showed a significant positive correlation with docosahexaenoic acid at D15 and term and with arachidonic acid at D15; the correlation with arachidonic acid tended toward significantly (p = 0.06) at term.

Arachidonic Acid↗
PubMed1995

Chemical modification of tylosin.

20-Homo tylosin, 20-nor tylosin, 20-deoxy-19,20-didehydro tylosin (6-vinyl tylosin) and 2",3"-didehydro-3"-deoxy tylosin were prepared by multi-step procedures. 20-Homo tylosin was about twice less active than tylosin while the other compounds exhibited very weak antibacterial activity.

Anti-Bacterial Agents↗
PubMed1994

Fetal diagnosis of toxoplasmosis in 190 women infected during pregnancy.

One hundred and ninety women who contracted toxoplasmosis after the seventh week of pregnancy underwent antenatal diagnosis, including ultrasound examination and biological tests. Tests included Toxoplasma isolation in fetal blood and amniotic fluid by mouse inoculation, specific IgM and IgA in fetal blood, and non-specific tests. Twenty fetuses had positive specific as well as non-specific tests for Toxoplasma infection. At birth, four of these presented with clinical congenital toxoplasmosis and 12 with subclinical forms. Antenatal diagnosis enabled the detection of 83 per cent of the infected fetuses. Under specific conditions, cordocentesis permits early diagnosis and considerably reduces the number of terminations of pregnancy.

Female↗
PubMed1994

[Biological effects on premature neonates of a milk formula enriched with alpha-linolenic acid: a multicenter study].

Nervous tissues and the retina are rich in docosahexaenoic acid [DHA, C22: 6(n-3)], an essential fatty acid which is the product of the elongation and desaturation of alpha-linolenic acid [alpha-LnA, C18:3(n-3)]. Lower plasma and membrane DHA levels as well as impaired nervous function (psychomotor development, visual disturbances) have been observed in premature babies receiving standard milk products compared to breast-fed babies and have been related to the lack of long-chain (> C20) fatty acids in these products. In the present study, we have investigated whether it is possible to increase the plasma and erythrocyte DHA level in premature infants by giving them a milk formula enriched in alpha-LnA (1.95% vs 0.55%). Results showed that, after 15 days of feeding, alpha-LnA supplementation significantly increased plasma DHA availability [2.20 vs 1.54% (p < 0.0001) in the plasma phospholipids] and increased DHA level in erythrocyte membranes [3.02 vs 2.54% (n.s.) in the red blood cell phosphatidylethanolamines]. At the LA/alpha-LnA ratio used (6/1), there was only a limited impact on the n-6 pathway which was reflected in a slight decrease in the arachidonic acid (AA) of the plasma phospholipids [6.88 vs 7.53% (p < 0.05) after 15 days]. Furthermore, the AA content of the red blood cell phosphatidylethanolamines was perfectly preserved even after a mean period of 4-5 weeks of feeding [(15.70 vs 14.86% (n.s)]. The observed enhancement in fatty acids of the n-3 series calls for a prospective study investigating whether these improvements are associated with changes in the kinetics of psychomotor development and in the visual function of enriched-formula-fed versus breast-fed babies.

Humans↗