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Biomedical subjects

M Rolland

Publications and source records attributed to M Rolland.

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

22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes.

22q11.2 deletion is a common genetic disorder characterised by a wide spectrum of clinical manifestations. To date no simple genotype-phenotype correlation has been established. Moreover, several reports have mentioned phenotypic discordance between monozygotic twins. No definite mechanism has been demonstrated and mosaicism, a postzygotic second hit, environmental effects and chance events have been proposed. The twinning process itself has been suspected in two cases (11, 23). We report the case of monozygous twins with a 22q11.2 deletion who are discordant for a heart defect. We found no arguments for mosaicism or twin-to-twin transfusion syndrome. The frequent discordance for heart defects in DiGeorge/Velo-cardio-facial syndromes (DGS/VCFS) does not favour the hypothesis of somatic mutations contributing to the phenotypic variation, but rather a complex interaction between genetic and environmental systems.

Abnormalities, Multiple↗
PubMed1998

Growth hormone, insulin-like growth factor-I and insulin-like growth factor binding protein-3 are regulated differently in small-for-gestational-age and appropriate-for-gestational-age neonates.

Growth hormone (GH), insulin-like growth factor-I (IGF-I) and IGF-binding protein-3 (IGFBP-3) were measured in 90 neonates during the first 5 days of life. Twenty-six small-for-gestational-age (SGA) neonates were compared with 64 appropriate-for-gestational-age (AGA) neonates. There were no differences in nutritional status between the 2 groups. Mean GH levels were significantly higher in the SGA group (53.4 +/- 30.8 vs. 39.9 +/- 23.3 microg/l; p < 0.05). In both groups GH levels correlated with birth weight (expressed as SDS) but not with gestational age. IGF-I levels were significantly lower in SGA neonates (6.6 +/- 4.0 vs. 11.7 +/- 8.2 ng/ml; p < 0.01). In SGA neonates with short stature, IGF-I levels were lower and GH levels were higher than in normal stature SGA neonates. IGFBP-3 levels were significantly lower in SGA neonates than in AGA neonates (0.72 +/- 0.40 vs. 0.98 +/- 0.43 microg/l; p < 0.01). IGF-I and IGFBP-3 correlated with gestational age in AGA but not in SGA neonates and there was no correlation with birth weight in either group. Our data provide evidence for a graduation in the severity of impact of fetal 'malnutrition' on the somatotropic axis and on intrauterine growth. The most severe state (SGA with short stature) was associated with a GH-resistance syndrome, characterized by very low IGF-I levels and high GH levels.

Body Height↗
PubMed1996

Death rate from pulmonary embolism following joint replacement surgery.

This paper comprises a retrospective study of the incidence of death from pulmonary embolism following total hip and total knee replacement surgery in a unit which does not employ routine prophylactic anticoagulation. There were a total of 1569 patients, of whom 1362 had total hip replacements and 207, knee replacements. Fatal pulmonary embolism occurred in six patients. The need for routine prophylactic anticoagulation is questioned.

Anticoagulants↗
PubMed1995

[Congenital erythropoietic porphyria. Apropos of a fatal case in the neonatal period due to acute hemolysis with hepatic failure].

BACKGROUND: Congenital erythropoietic porphyria, an autosomal recessive disease, is characterized by deficiency of uroporphyrinogen III synthase. Clinical variability of the disease is related to the different mutations found in the patients. CASE REPORT: A newborn suffered one hour after birth from jaundice and polypnea with acute hemolysis. Severe cutaneous photosensitivity occurred after phototherapy. Congenital erythropoietic porphyria was suspected because of reddish-colored urine and confirmed by porphyrin analyses. The baby died one month later due to severe hemolytic anemia with hepatic failure. Uroporphyrinogen III synthase activity was decreased by 99% in bone marrow cells and established lymphoblastoid cells from the patient. Molecular biology studies demonstrated the presence of the Cys 73-->Arg substitution at the homozygous state in the patient. CONCLUSION: This mutation, the most frequently found in this disease, is responsible for a severe phenotype. Molecular characterization provides genotype/phenotype correlations in this porphyria and allows to clarify unusual cases of porphyrias.

Acute Disease↗
PubMed1994

Termination of pregnancy for maternal toxoplasmosis.

Termination of pregnancy is usually recommended to pregnant women who have infection with Toxoplasma gondii before 26 weeks of pregnancy if the fetus is infected. No prospective studies are available on the outcome if such pregnancies are allowed to continue with anti-parasitic treatment. We prospectively studied 163 mothers with acute toxoplasma infection before 28 weeks of amenorrhoea. All received anti-parasitic treatment with 9 million IU spiramycin orally. 23 also received pyrimethamine and sulphadiazine. All had cordocentesis and regular obstetric ultrasound examinations. The 162 liveborn infants were followed up for 15 to 71 months. 3 fetuses died in utero. 27 of 162 liveborn infants had proven congenital toxoplasmosis: 10 had one or more clinical signs of congenital toxoplasmosis; 5 had isolated or multiple intracranial calcifications; 7 had peripheral chorioretinitis; and 2 had moderate ventricular dilations. All 27 are free from symptoms and have normal neurological development at 15 to 71 months of age. We conclude that in first and second trimester pregnancies with acute fetal toxoplasma infection, the pregnancy need not be interrupted if repeated fetal ultrasound is normal, and antiparasitic treatment is given.

Abortion, Eugenic↗
PubMed1994

Antenatal detection of subdiaphragmatic pulmonary sequestration: a case report.

Extralobar pulmonary sequestration is part of the spectrum of bronchopulmonary foregut malformations. Usually found in the thorax, it may be located in the retroperitoneum. We report one case of subdiaphragmatic pulmonary sequestration detected by prenatal ultrasound, and diagnosed at surgery after birth. This case illustrates the diagnostic and therapeutic problems occurring during pregnancy and the neonatal period.

Adult↗
PubMed1994

[Follicular atrophoderma, basal cell proliferation and hypotrichosis (Bazex-Dupré-Christol syndrome). A study in 2 families].

We describe a new case of Bazex, Dupré and Christol (BDC) syndrome in a family (family B...) where the disease affects four generations. Moreover, we report the clinical and genealogical evolution of the first family (family A...), described in 1966 by Bazex. A review of the literature has enabled us to collect the various symptoms of BDC syndrome, to discuss the relationship of this syndrome with basal cell naevomatosis and X-linked dominant chondrodysplasia punctata, and to discuss the kind of heredity. In family B..., two patients were examined. A one-month-old girl, with hypotrichosis and pseudo pili torti, and her 29-year-old father, with hypotrichosis and dorsal follicular atrophoderma of the hands. In this family, the paternal grand mother, one of her sisters, and the great grand father were also affected, but no basal cell carcinomas were found. In family A..., five patients were followed up. Four brothers, adult men aged 43 to 55 years initially presented only dorsal follicular atrophoderma the hands and face, hypotrichosis and numerous basal cell carcinomas of the face, especially in palpebral, temporal, nasal and forehead sites. Surgery was required and gave better results than radiotherapy, which left sites of sclerosis. Their mother was also affected and had been treated for numerous basal cell carcinomas of the face. The other members of the same generation (two women, two men) were unaffected. But the uncle and the grand father had the disease and at the last generation, a girl, child of one of the brothers affected, presented follicular atrophoderma and hypotrichosis.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1994

[Fetal and neonatal effects of maternal treatment with angiotensin converting enzyme inhibitor].

BACKGROUND. Exposure of pregnant women to angiotensin converting enzyme inhibitor may have side effects on the fetus or newborn, mainly oligoamnios and impaired renal function. CASE REPORT N zero 1. A 34 year-old woman was given enalapril from the onset of her pregnancy because of hypertension from the age of 18 years. Oligoamnios was diagnosed in the fetus on gestational week 28; enalapril was then replaced by nifedipine but this drug was badly tolerated so that the woman was again given enalapril 8 days later. The baby (1700 g) was born by cesarean section at gestational week 34 because of acute distress syndrome; he developed hypotension, anuria, generalized oedema and was placed in intensive care. Treatment included ventilation, sympathomimetic agents, and diuretics. An exchange-transfusion followed by peritoneal dialysis was performed a few hours later. Renal function returned to normal between the 3rd and 5th day. Unilateral kidney hypoplasia was diagnosed at the age of 2 years. CASE N zero 2. A 24 year-old woman was given enalapril at the third trimester of a twin pregnancy. Delivery was full term at 37 weeks. The first baby, a boy weighing 2610 g, suffered from hypoglycemia and vomiting followed by hypotension and oliguria that required exchange-transfusion and repeated peritoneal dialysis. This boy has developed moderate chronic renal failure and hypertension. The second baby, a girl weighing 2,165 g, suffered from respiratory distress syndrome followed by hypotension and oliguria, but her renal function returned to normal within a few days. CONCLUSIONS. The use of angiotension converting enzyme inhibitor by pregnant women places the fetus at severe risk: treatment with this type of drug should be stopped as soon as pregnancy is confirmed.

Acute Kidney Injury↗
PubMed1994

[Angiotensin-converting enzyme inhibitors and pregnancy. Apropos of 2 cases].

Angiotensin converting enzyme inhibitors do not have any teratogenic effect in man but their use during pregnancy has led to cases of hypotension and subsequent severe renal failure in the newborn. The authors report two cases, one involving a twin pregnancy which illustrate the variability of the foetal involvement. It is emphasized that the side effects of angiotensin converting enzyme inhibitors are not only reversible but also are not constantly found.

Adult↗
PubMed1993

Familial cystic hygroma. Report of 8 cases in 3 families.

The authors report 8 cases of familial cystic hygroma concerning 3 families. In the first family, the two affected fetuses with normal karyotypes showed cystic hygroma of the neck associated with campomelic long bone disease. No other fetal anomalies in the two fetuses were found in the second family, and only one of the four abortuses revealed associated malformations (meningomyelocoele, cleft palate) in the third family. In all these cases, parental consanguinity is found, supporting an autosomal recessive mode of inheritance.

Abnormalities, Multiple↗
PubMed1993

[Antenatal diagnosis of toxoplasmosis. 176 case reports].

OBJECTIVE: To determine the value of antenatal diagnosis of congenital toxoplasmosis by ultrasound guided aspiration of cord blood for testing. MATERIAL: This is a prospective study of 176 cases. As well as obtaining fetal blood and amniotic fluid the searched for specific IgM and A as well as culturing for the parasites on human fibroblasts and inoculation of mice, as well as researching them for non-specific signs of fetal infection. 149 children were able to be followed up one year after birth. RESULTS: 15% of the children (22/149) were infected with toxoplasmosis. 11 out of these were diagnosed positive antenatally. For the 11 others the diagnosis of fetal infection could only be made after birth, but the non-specific signs made it possible to expect early that they had been contaminated. 59% (13/22) had latent toxoplasmosis which only showed up after a mean interval of 34 months after birth. 41% (9/22) had clinical and/or paraclinical signs of toxoplasmosis (mainly unilateral non-macular chorioretinitis and intracranial calcifications) but they are well after a follow-up period averaging 30 months. COMMENTARY: Ultrasound alone, when it shows up fetal abnormalities, can make the diagnosis of the severity of the condition. The role of taking fetal specimens is to make clear those infants that are infected because of specific signs, and to find those fetuses which are at high risk because of non-specific signs in order to improve the management of the cases. This development has made it possible to avoid carrying out a large number of unnecessary terminations of pregnancy and has resulted in the birth of affected infants that had no functional sequelae from the infection.

Amniotic Fluid↗
PubMed1993

[Longitudinal evaluation of lymphocyte subsets and serum immunoglobulins in infants born to HIV seropositive mothers].

Early predictive factors of HIV infection in infants born to HIV infected mothers were carried out to evaluate the roles of immunological parameters for the diagnosis and prognosis of HIV infection. T-lymphocyte subsets and serum immunoglobulins were studied on cord blood in three groups of neonates: 14 infected infants, 29 sero-reverted infants and 31 control neonates. No differences were observed between the three groups. At 3 months, IgG were significantly higher in the infected infants than in sero-reverted infants. After 6 months, CD4 + cell counts, CD4/CD8 ratio were significantly lower in the infected infants and serum IgG, IgA and IgM were significantly higher in the infected group. Antigenemia p24 was detected in 78% of the infected group before 6 months. Total HIV-specific antibody persisted and progressed after 6 months. These data and viral detection appear to be complementary and useful for therapeutic strategies.

Blood Cell Count↗