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Biomedical subjects

L de Parscau

Publications and source records attributed to L de Parscau.

At least 37 records · Page 2Linked to original sources
PubMed1996

[The CHARGE association].

The CHARGE association is a polymalformative disease associating coloboma, heart disease, atresia of choanae, retarded growth and development, genital hypoplasia and ear anomalies, CHARGE being an acronym based on these different malformations. The diagnosis requires at least four of these malformations including necessarily coloboma and/or atresia of choanae. The various clinical aspects, the genetics and the therapeutics implications are described.

Abnormalities, Multiple↗
PubMed1996

[Neonatal diabetes mellitus associated with an autoimmune disease].

BACKGROUND: Insulin-dependent diabetes mellitus can be associated to an auto-immune disease. A similar association may be seen in the neonate. CASE REPORT: A one-day-old boy was admitted for ketoacidosis due to diabetes mellitus. Investigation showed that he also suffered from an auto-immune enteropathy with several types of autoantibodies, particularly anti-enterocytes antibodies. Immunotherapy was ineffective. Multi-organ lesions developed subsequently, particularly a pulmonary disease responsible for the death at the age of 2 years. CONCLUSION: Physiopathology of this association remains unclear and the report of further cases should help improve our knowledge.

Autoimmune Diseases↗
PubMed1996

[Severe head injuries in neonates and infants: physiopathological and therapeutic aspects].

Severe head injuries in infants have specific circumstances such as obstetrical injury, battered infant, shaken infant. Pediatric scales must be used for neurological evaluation, the Bicêtre scale being a sensitive index of clinical course. Transfontanellar ultrasound can be useful as first line tool of evaluation of brain injury, but computerized tomography scan is necessary to correctly assess the brain lesions and the presence of hematoma. Hemorragic lesions can rapidly lead to hypovolemic state which must be prevented, or treated without delay. Treatment requires hemodynamics and hydroelectrolytic support, measures to control intracranial hypertension, sedation, and neurosurgical intervention according to the hemorragic lesions.

Craniocerebral Trauma↗
PubMed1996

[Nosocomial infections due to syncytial respiratory virus: which hygienic measures].

Nosocomial respiratory tract infections due to respiratory syncytial virus are common among hospitalized children. The overall prevention is based on 3 points: prevention of person-to-person viral transmission, infection surveillance and staff education. Handwashing is the main protective attitude. Other measures such as gloving, gowning and wearing masks and goggles are discussed. Changes in hospital organisation during epidemic periodes must also be considered.

Adolescent↗
PubMed1996

[Bird headed dwarfism in Seckel syndrome. Nosologic difficulties].

Seckel syndrome is a clinical picture which associates four main features: intrauterine growth retardation, microcephaly often due to craniosynostosis, orofacial dysmorphology with bird headed appearance and variable mental retardation which is present after several months. Malformations of the central nervous system, limbs, and hair, may also be observed. On the basis of 78 cases reported in the literature, the authors discuss the validity of the morphological features of the syndrome. It is likely that the variability in the expressivity of each symptom explains its heterogeneity. According to the radiological abnormalities, three different forms of the syndrome have been described. Seckel syndrome is a genetic disorder with autosomal recessive inheritance. Its ethiopatogeny remains unclear. Hopefully linkage studies will allow to map the gene in order to determine the underlying abnormal protein.

Abnormalities, Multiple↗
PubMed1996

gamma-Aminobutyric acid concentrations in the cerebrospinal fluid of newborn infants determined by high performance liquid chromatography.

gamma-Aminobutyric acid (GABA), a major inhibitory amino acid, has a central role in cardiorespiratory regulation. Its measurement in the cerebrospinal fluid (CSF) complements the study of neurotransmission systems. Forty-one children were studied (postnatal age < 1 year). For each child, date of birth, date of sampling and current treatments were collated and their postnatal (days) and postconception (weeks) ages were calculated. CSF samples were studied using reverse phase high performance liquid chromatography (HPLC) with o-phthaldialdehyde derivation and spectro-fluorimetric measurement. A clear increase in levels of GABA was observed around 41 weeks postconception, followed by a progressive decrease, with levels stabilizing after 57 weeks postconception. GABA-regulated neuromodulation therefore appears to be mature at 41 weeks postconception and not at birth. The data could be used in further studies investigating amino acid metabolism in relation to brain function in various neurological disorders.

Age Factors↗
PubMed1995

[Clinical heterogeneity of Townes-Brocks syndrome].

BACKGROUND: Townes-Brocks syndrome (TBS) is a rare autosomal dominant entity mainly characterized by ano-rectal, ear and extremities abnormalities with variable clinical expression. CASE REPORTS: The first case had ear and extremities, but not anorectal, abnormalities; a Pierre-Robin sequence with esophageal atresia was also observed. The second case had the classical triad of abnormalities also associated with tetralogy of Fallot which has been only once reported in the literature. CONCLUSIONS: Both cases are other examples of the frequent clinical variability observed in this syndrome explaining diagnostic difficulties in the absence of a specific marker.

Abnormalities, Multiple↗
PubMed1995

[Spontaneous umbilical cord hematoma, a rare cause of acute fetal distress].

BACKGROUND: Spontaneous umbilical cord hematoma is a rare life-threatening gestational accident. CASE REPORT: A 26 year-old primipara was examined at 38 weeks of gestation for fetal monitoring. There were a number of fetal decelerations with loss of baseline variability. Cesarean section performed for acute fetal distress resulted in a male infant with an Apgar score of 3 at 1 minute and 7 at 5 minutes and neonatal anemia (Hb: 11.6 g/l). Four umbilical cord hematomas were observed. Microscopic examination revealed a ruptured umbilical vein without other abnormality. Post natal evolution was marked by hypoxic-ischemic encephalopathy and death. CONCLUSION: Spontaneous umbilical cord hematoma is rare (1/5,500 births) and often due to rupture of the umbilical vein. Risk factors are shortness or traction of the cord, post-maturity and infection. Umbilical cord hematomas are usually responsible for severe fetal distress or death.

Acute Disease↗
PubMed1995

Neonatal nosocomial respiratory infection with coronavirus: a prospective study in a neonatal intensive care unit.

The aim of this prospective study was to evaluate the incidence of viral respiratory infection in hospitalized premature newborn infants and to assess the role of coronaviruses. All hospitalized premature infants with a gestational age less than or equal to 32 weeks were included. Tracheal or nasopharyngal specimens were studied by immunofluorescence for coronaviruses, respiratory syncytial virus, adenoviruses, influenza and parainfluenza viruses. Forty premature infants were included; 13 samples were positive in 10 newborns (coronaviruses n = 10; influenza 1 n = 2; adenovirus n = 1). None was positive at admission. All premature infants infected with coronaviruses had symptoms of bradycardia, apnea, hypoxemia, fever or abdominal distension. Chest X-ray revealed diffuse infiltrates in two cases. However, no significant difference was observed between infected and non-infected premature infants for gestational age, birth weight, duration of ventilation, age at discharge, incidence of apnea or bradycardia. Nosocomial respiratory tract infection with coronaviruses appears to be frequent. The clinical consequences should be evaluated in a larger population.

Body Fluids↗
PubMed1994

[Prenatal diagnosis of congenital cystic adenomatoid malformation of lung: perinatal management. Apropos of 4 cases].

BACKGROUND: Cystic adenomatoid malformation of the lung can be seen by ultrasonography during pregnancy. Surgical excision of the affected lobe is indicated during the first days of life. CASES REPORT: Four neonates were admitted to an intensive care unit from March 1988 to February 1992, due to cystic adenomatoid malformation of the lung, that had been diagnosed by ultrasonography at 19, 22, 34 and 37 weeks of gestational age, respectively. These malformations were not associated with other abnormalities and were type I (three cases) and II (one case) according to Stocker's classification. Only one patient became symptomatic, requiring intubation by 72 hours of age. Surgical excision of the affected lobe was performed in three patients at 4 hours, 2 and 7 days of life, respectively, with a normal long-term survival. A segmental resection was performed at 5 days of life in the remaining symptomatic patient but persistence of cystic lesions required lobectomy at 10 months. CONCLUSIONS: Early perinatal management of cystic adenomatoid malformations of the lung is necessary as surgical excision is indicated as soon as possible, even in asymptomatic patients.

Cystic Adenomatoid Malformation of Lung, Congenita↗
PubMed1994

[Pathogen role of coronavirus in pediatric intensive care: retrospective analysis of 19 positive samples with indirect immunofluorescence].

BACKGROUND: Coronaviruses (CV) are ARN-containing agents that are responsible for mild upper respiratory tract infections in adults and children. Their pathogenicity in neonates is not wellknown. POPULATION AND METHODS: Eighty five samples of tracheal or nasopharyngeal secretions were obtained from January to October 1991 from 53 children (29 less than 1 month of age; 19 from 1 month to 1 year; five older than 1 year). They were examined for respiratory syncytial virus, adenovirus, myxovirus influenza and parainfluenza and coronavirus by immunofluorescence (IF). RESULTS: Nineteen samples from nine newborns and three infants were positive for coronavirus. The mean birth weight of the nine neonates was 2100 +/- 840 g; their mean gestational age was 34 +/- 5 weeks and their mean age at diagnosis was 21 +/- 9 days. Apnea and bradycardia were the main symptoms in this group. Blood C-reactive protein was not elevated and blood cultures were sterile. One infant was admitted for near-miss; the two others were admitted at birth because they suffered from chronic lung disease (pulmonary hypoplasia and bronchopulmonary dysplasia). An acute episode of pulmonary deterioration occurred at the time of coronavirus infection. Both died one at 4 months and the other at 10 months. CONCLUSION: Coronaviruses seem to be responsible for respiratory tract infections in hospitalized neonates and chronically ventilated infants.

Apnea↗
PubMed1993

[Dietary treatment of maple syrup urine diseases].

Principles of dietary management and needs in maple syrup urine disease are well defined. However, long-term results show that there is a need for an improvement of the maintenance of a low plasma leucine level and in monitoring episodes of metabolic decompensation in order to ameliorate the survival and psycho-intellectual outcome.

Adolescent↗
PubMed1993

[Fulminant pneumococcal septicemia in a splenectomized child despite vaccination and chemoprophylaxis: necessity for education of the entourage].

A splenectomized three-year-old developed fulminant pneumococcal septicemia despite immunization and chemoprophylaxis. The course was rapidly fatal. Fulminant pneumococcal septicemia mainly affects splenectomized individuals and is associated with very substantial mortality. Immunization prior to splenectomy and daily prophylactic oral penicillin have partial preventive efficacy. Other useful measures include carrying a health status card and inpatient antimicrobial therapy in the event of fever. The need for these precautions should be repeatedly discussed with the child's parents and physician.

Bacteremia↗