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S Blanche

Publications and source records attributed to S Blanche.

At least 145 records · Page 8Linked to original sources
PubMed1991

[Pearson's syndrome. Pancytopenia with exocrine pancreatic insufficiency: new mitochondrial disease in the first childhood].

Pearson's syndrome is a lethal disorder of a still unknown cause, responsible for pancytopenia and exocrine pancreatic dysfunction in the first months of life. Permanent hyperlactacidemia and increased mitochondrial and cytoplasmic oxidoreduction ratios were observed in 6 unrelated children presenting with this disease. This led to study the oxidative phosphorylation in lymphocytes and thus to relate Pearson's syndrome to an enzymatic disease of the respiratory chain (NADH oxidase activity deficiency). The study of the mitochondrial genome allowed identifying major changes in mitochondrial DNA in all patients and all studied tissues. Thus, Pearson's syndrome is the first mitochondriopathy with a non neuromuscular expression reported to date.

DNA, Mitochondrial↗
PubMed1990

[Developmental profile of HIV infection in children].

The natural history of HIV-1 infection in children has not yet been determined precisely. Contrary to what is observed in adults, the disease seems to follow a bimodal course. One-quarter to one-third of infected children develop, before the end of their first year of life, a deep immunodeficiency which is responsible for severe infectious and neurological symptoms; survival does not exceed 4 to 5 years. In contrast, although the other children are symptomatic, their disease progresses much more slowly, perhaps as slowly as in adults, and their long-term outcome remains uncertain.

Female↗
PubMed1990

Longitudinal study of 94 symptomatic infants with perinatally acquired human immunodeficiency virus infection. Evidence for a bimodal expression of clinical and biological symptoms.

To better define the clinical and biological evolution of infants after vertical human immunodeficiency virus type 1 infection, we analyzed 94 consecutive infected patients followed up after their first clinical symptoms. The expression of clinical symptoms and biological abnormalities followed a bimodal distribution, some patients having an early and severe disease and the others having a slowly progressive one. One third of our patients suffered from early onset of opportunistic infection (OI). These patients had a significantly higher incidence of severe encephalopathy compared with patients without OI. The rate of survival at 3 years was 48% +/- 24%. In contrast, the patients without early OI or severe encephalopathy had a probability of survival at 3 years of 97% +/- 3%. This probability was not modified by the occurrence of bacterial infection or lymphoid interstitial pneumonitis. Lymphoid interstitial pneumonitis occurred at a mean age of 29 months, significantly later than OI or severe encephalopathy. Laboratory results at initial examination were correlated with clinical symptoms. Thus, when the number of CD4 lymphocytes was less than 500/mm3, children suffered more frequently from life-threatening symptoms (OI and severe encephalopathy): 15 of 22 vs 14 of 69. The same was true when the lymphocytes did not proliferate after antigenic stimulation, when anti-p18 and/or anti-p25 antibodies were absent in the serum, and when p24 antigen was detected in serum. Finally, severe encephalopathy was associated with low anti-human immunodeficiency virus cerebrospinal fluid antibody titer, whereas 88% of patients with moderate or no encephalopathy had signs of intrathecal anti-human immunodeficiency virus antibody synthesis. In conclusion, a subgroup of patients expressed very early signs of severe immunodeficiency and encephalopathy, whereas the majority of patients had a longer survival and less severe clinical symptoms during their first years of life than previously thought.

AIDS Dementia Complex↗
PubMed1990

Prospective study of the occurrence of monoclonal gammapathies following bone marrow transplantation in young children.

We have prospectively studied the occurrence of monoclonal serum immunoglobulins in 38 recipients of BMT. Patients were young children with primary immunodeficiencies (n = 31), other inherited diseases (n = 4), leukemia (n = 2), or aplastic anemia (n = 1). Twenty-nine received an HLA-nonidentical marrow and nine an HLA-identical marrow. Serum monoclonal immunoglobulins were detected by the immunofixation method. Monoclonal immunoglobulins were found in 26 patients. Monoclonal components were more frequently detected in patients with primary severe T cell deficiencies (21/25) rather than in the other patients (6/13). In 7 of 29 recipients of HLA-nonidentical transplants, versus 0 out of 9 recipients of HLA-identical transplants, serum monoclonal immunoglobulins were found associated with a B lymphocyte proliferation syndrome due to an Epstein-Barr virus infection. In this group, monoclonal immunoglobulins were detected early, prior to the onset of the clinical syndrome. The simultaneous occurrence of several monoclonal immunoglobulins was more frequent in these patients, while monoclonal immunoglobulin concentrations increased faster, especially those of IgM isotype. These characteristics may allow in patients at risk (recipients with primary T cell immunodeficiencies and receiving HLA-nonidentical transplantation) an earlier diagnosis of B lymphocyte proliferative syndrome that may eventually lead to early and more efficient therapy.

Bone Marrow Transplantation↗
PubMed1990

Blood histamine levels in HIV-1-infected infants and children.

Blood histamine levels (BHL; ng histamine base/ml blood, mean +/- SEM) were determined in 118 infants born to HIV-1-infected mothers and in children infected after blood transfusion. In asymptomatic infected infants, BHL were not significantly different from HIV-1-negative infants born to HIV-infected mothers (54.1 +/- 5.6 vs. 56.4 +/- 3.5). BHL progressively decreased in the group with polyadenopathies (40.0 +/- 4.0), in the group with AIDS-related complex (28.8 +/- 2.9), and in patients with AIDS (20.4 +/- 0.9). The decrease in BHL was associated with a decrease in blood basophil number.

Child↗
PubMed1990

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

Pearson's marrow-pancreas syndrome (McKusick No. 26056) is a fatal disorder of hitherto unknown etiology involving the hematopoietic system, exocrine pancreas, liver, and kidneys. The observation of high lactate/pyruvate molar ratios in plasma and abnormal oxidative phosphorylation in lymphocytes led us to postulate that Pearson's syndrome belongs to the group of mitochondrial cytopathies. Since rearrangements of the mitochondrial genome between direct DNA repeats were consistently found in all tissues tested, our results show that this disease is in fact a multisystem mitochondrial disorder, as suggested by the clinical course of the patients. Based on these observations, we would suggest giving consideration to the hypothesis of a defect of oxidative phosphorylation in elucidating the origin of other syndromes, especially those associated with an abnormal oxidoreduction status in plasma.

Anemia, Sideroblastic↗
PubMed1989

A prospective study of infants born to women seropositive for human immunodeficiency virus type 1. HIV Infection in Newborns French Collaborative Study Group.

Assessment of the risks of transmission of infection with human immunodeficiency virus type 1 (HIV-1) from mother to newborn is difficult, partly because of the persistence for up to a year of maternal antibodies transmitted passively to the infant. To determine the frequency of perinatal transmission of HIV infection, we studied from birth 308 infants born to seropositive women, 62 percent of whom were intravenous drug abusers. Of 117 infants evaluated 18 months after birth, 32 (27 percent) were seropositive for HIV or had died of the acquired immunodeficiency syndrome (AIDS) (n = 6); of the 32, only 2 remained asymptomatic. Another 76 infants (65 percent) were seronegative and free of symptoms, whereas 9 (8 percent) were seronegative but had symptoms suggestive of HIV-1 infection. The infants infected with HIV-1 did not differ from the others at birth with respect to weight, height, head circumference, or rate of malformations, but as compared with newborns who were seronegative at 18 months, their serum IgM levels were higher (78 +/- 81 mg per deciliter vs. 38 +/- 39 mg per deciliter; P less than 0.03) and their CD4 lymphocyte counts were lower (2054 +/- 1221 per cubic millimeter vs. 2901 +/- 1195 per cubic millimeter; P less than 0.006). Neither maternal risk factors nor the route of delivery was a predictor of seropositivity at 18 months; however, 5 of the 6 infants who were breast-fed became seropositive, as compared with 25 of 99 who were not (P less than 0.01). We conclude that approximately one third of the infants born to seropositive mothers will have evidence of HIV-1 infection or of AIDS by the age of 18 months, and that about one fifth of this group will have died.

Acquired Immunodeficiency Syndrome↗
PubMed1989

Hypoglycaemia induced by antibodies to insulin receptor following a bone marrow transplantation in an immunodeficient child.

Severe hypoglycaemia developed seven months after a bone marrow transplantation in a child with severe combined immunodeficiency. His serum exerted potent insulin-like activity: (a) it stimulated insulin receptor autophosphorylation and kinase activity in cell-free systems, this effect being additive to insulin; (b) it increased glucose transport in isolated soleus muscle. These insulin-like effects were due to immunoglobulins against the insulin receptor. Indeed, the patient serum immunoprecipitated human or murine insulin receptors from different tissues and inhibited insulin binding to receptor on human IM-9 lymphocytes. After corticoids and immunosuppressive therapy by azathioprine, the patient hypoglycaemic episodes disappeared, and concomitantly, the antibodies to insulin receptor were no longer detected, as judged by both immunoprecipitation of insulin receptor and stimulation of glucose transport.

Animals↗
PubMed1989

Mother-child transmission of HIV-1 and infant survival in Brazzaville, Congo.

The aim of this study was to compare the probability of survival of infants born to anti-HIV-1-positive and anti-HIV-1-negative mothers. One thousand, eight hundred and thirty-three pregnant women, recruited sequentially in two mother-child clinics in Brazzaville, were screened for anti-HIV-1 (by enzyme-linked immunosorbent assay with confirmation by Western blot). Each seropositive mother (71 out of 1833, 3.9%) was matched for age, presumed date of delivery and place of residence with two seronegative mothers. Sixty-four babies born to anti-HIV-1-positive mothers and 130 control babies born to anti-HIV-1-negative mothers were followed up for 12-22 months (mean, 18 months). The probabilities of survival were estimated by the Kaplan-Meier method. At birth, the two groups of babies did not differ with regard to rate of stillbirths, gestational age, sex ratio and weight. Among babies born to seropositive mothers, the probability of survival was 0.87 (s.d. 0.04) at 3 months, 0.71 (s.d. 0.06) at 6 months, 0.68 (s.d. 0.06) at 9 months and 0.61 (s.d. 0.06) at 12.5 months. In the controls the probability of survival was 0.98 (s.d. 0.01) at 3 months and 0.97 (s.d. 0.02) at 12 months. The excess of mortality in the babies born to anti-HIV-1-positive mothers is highly significant (P less than 0.001). The deaths occurred more frequently and earlier than in similar cohort studies performed in developed countries.

Age Factors↗
PubMed1989

Human immunodeficiency virus-associated thrombocytopenia in infants.

Severe thrombocytopenia was the initial manifestation of human immunodeficiency virus infections in 5 infants under 15 months of age. In only 2/5 cases maternal seropositivity was previously known while in the other 3 it was discovered after onset of the infants' thrombocytopenia. One infant died, due to intracranial hemorrhage, and the other 4 developed to disease stage IV. Human immunodeficiency virus infection must be considered in the diagnosis of thrombocytopenia.

Child, Preschool↗
PubMed1989

[Prognostic factors in HIV seropositive children by materno-fetal transmission].

Ninety-four cases with HIV seropositive children who were found in the Hospital Necker Enfants Malades in France from April 1983 till September 1988 due to materno-fetal transmission were surveyed for immunological studies as well as the relationship between clinical symptoms and the prognosis. Lymphoadenopathy and/or hepatosplenomegaly were found in 98% of the total cases. Opportunistic infections, severe neurological problems and LIP were found in 28%, 16% and 15%, respectively. At the first laboratory examination, cases showing under 500/mm3 of OKT4 lymphocytes and with negative antigen-induced proliferative responses were observed in 24% and 44% of the cases, respectively. Negative serological profiles of antibodies to P18 and P25 HIV antigens appeared to show low values of OKT4 lymphocytes and abnormal responses to antigens. The survival cases with these findings were minimum. These data indicate that it is very much worth, while to estimate the degree of immunological deficiency and infectious complications.

CD4-Positive T-Lymphocytes↗
PubMed1989

Bronchoalveolar lavage in HIV infected patients with interstitial pneumonitis.

The value of taking microbiological and cytological specimens by flexible bronchoscopy and bronchoalveolar lavage under local anaesthesia was assessed on 43 occasions in 35 HIV infected children, aged 3 months to 16 years, with interstitial pneumonitis. In acute interstitial pneumonitis (n = 22, 26 specimens from bronchoalveolar lavages) the microbiological yield was 73%, Pneumocystis carinii being the commonest infective agent (n = 14). P carinii pneumonia was found only in children with deficient antigen induced lymphocyte proliferative responses who had not been treated with long term prophylactic co-trimoxazole. In contrast, in 13 children with chronic interstitial pneumonitis that was consistent with a diagnosis of pulmonary lymphoid hyperplasia who underwent bronchoalveolar lavage on 17 occasions, there were two isolates of cytomegalovirus and one of adenovirus, but P carinii was not found. Ten of the 13 children had normal antigen induced lymphocyte proliferative responses. Useful cytological data were also gleaned from bronchoalveolar lavage specimens. Lymphocytosis was significantly higher in pulmonary lymphoid hyperplasia (36(SD 11)%) than in P carinii pneumonia (24(19)%) whereas the percentage of polymorphonuclear neutrophils was significantly lower (3(2)% compared with 12(13)%). Flexible bronchoscopy with bronchoalveolar lavage is safe even in young infants and should reduce the necessity for open lung biopsy in the management of HIV infected children with interstitial pneumonitis.

Acquired Immunodeficiency Syndrome↗