Search PubMed⌕ Search

Biomedical subjects

P Labrune

Publications and source records attributed to P Labrune.

At least 55 records · Page 3Linked to original sources
PubMed1999

[Pediatric liver diseases].

Pediatric liver diseases usually manifest as jaundice, hepatomegaly, ascites or edema and can reflect a metabolic or nonmetabolic condition. In unconjugated hyperbilirubinemia, hemolysis can be distinguished from transient or inherited glucuronidation deficiencies. Jaundice with conjugated hyperbilirubinemia should suggest extrahepatic bile duct obstruction (requiring immediate surgery) or intrahepatic mechanical or metabolic cholestasis. Hepatomegaly or hepatocellular necrosis suggests diseases characterized by hepatocyte damage or overload. Appropriate investigations and a painstaking physical examination are essential to establish the diagnosis and to identify the cause, since immediate treatment is needed in some cases.

Cholestasis↗
PubMed1998

CHARGE syndrome: report of 47 cases and review.

The acronym CHARGE refers to a syndrome of unknown cause. Here we report on 47 CHARGE patients evaluated for the frequency of major anomalies, namely coloboma (79%), heart malformation (85%), choanal atresia (57%), growth and/or mental retardation (100%), genital anomalies (34%), ear anomalies (91%), and/or deafness (62%). In addition, we comment on anomalies observed very frequently in neonates and infants with the CHARGE syndrome, including, minor facial anomalies, neonatal brain stem dysfunction with cranial nerve palsy, and, mostly, internal ear anomalies such as semicircular canal hypoplasia that were found in each patient that could be tested. We propose several criteria for poor survival including male gender, central nervous system and/or oesophageal malformations, and bilateral choanal atresia. No predictive factor regarding developmental prognosis could be identified in our series. A significantly higher mean paternal age at conception together with concordance in monozygotic twins and the existence of rare familial cases support the role of genetic factors such as de novo mutation of a dominant gene or subtle sub-microscopic chromosome rearrangement. Finally, the combination of malformations in CHARGE syndrome strongly supports the view that this multiple congenital anomalies/mental retardation syndrome is a polytopic developmental field defect involving the neural tube and the neural crests cells.

Abnormalities, Multiple↗
PubMed1998

Prenatal diagnosis of glycogen storage disease type Ia by restriction enzyme digestion.

Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive condition, caused by a deficiency of hepatic glucose-6-phosphatase (G6Pase) activity. In a consanguineous family originating from northern Africa whose first daughter was affected with GSD Ia, we were able to identify the disease-causing mutation, a cytosine to thymine substitution at nucleotide 326 in exon 2 of the G6Pase gene (R83C). This mutation causes the disappearance of an HgaI site, and is thus easily detectable by restriction enzyme digestion. Both parents were heterozygous for this mutation. During the third pregnancy, fetal genomic DNA was extracted from a chorionic villus biopsy sampled at the 24th week of gestation. Exons 2 of the G6Pase gene were amplified by the polymerase chain reaction followed by HgaI digestion. Fetal DNA analysis indicated that the fetus had received both normal G6Pase alleles. This result was confirmed after birth. DNA analysis is the only reliable method for prenatal diagnosis of GSD Ia.

Consanguinity↗
PubMed1998

[Severe neonatal jaundice. Definition and management].

Although risk factors such as hemolysis, hypoxia, hypoglycemia, prematurity or infection must always be considered, the main criteria of a potential severity of neonatal hyperbilirubinémia is the serum concentration of free bilirubin, or if it cannot be determined, the bilirubin/albumin ratio. However in common practice the therapeutic decisions are usually based upon the level of total bilirubin serum concentration. Phototherapy and albumin infusions control most of severe hyperbilirubinemias, and the use of exchange transfusion is rare nowadays.

Bilirubin↗
PubMed1997

Severe brain and limb defects with possible autosomal recessive inheritance: a series of six cases and review of the literature.

Six fetuses with normal chromosomes were found to have severe craniofacial, limb, and visceral malformations during the second trimester of pregnancy. Two of these fetuses were monozygotic twins while a third one had a healthy dizygotic twin brother. A case with familial recurrence was also observed. Autopsy and skeletal radiographs suggested several diagnoses such as neural tube defect with limb defects or XK aprosencephaly. The development of these severe conditions in monozygotic twins and familial recurrence emphasize the difficulties of genetic counseling in such situations. These cases may suggest autosomal recessive inheritance.

Abnormalities, Severe Teratoid↗
PubMed1997

Antley-Bixler syndrome. Description of two new cases and a review of the literature.

Antley-Bixler syndrome was first described in 1975, and to date 20 cases have been reported. In addition to brachycephaly, the syndrome is associated with midface hypoplasia, often with choanal stenosis or atresia, bilateral radiohumeral synostosis, multiple joint contractures, femoral bowing and long bone fractures, "pear-shaped" nose, dysplastic ears and, occasionally, urogenital or cardiac defects. Survival is closely linked to upper airway obstruction. This, in addition to craniosynostosis, also affects mental prognosis. The cluster of malformations and their severity are variable, and while numerous children have died early from respiratory distress, one third of them are alive and have had quite satisfactory development. With early and effective prevention of respiratory complications and early treatment of craniosynostosis, the overall prognosis can be favorable. The mode of inheritance is probably autosomal recessive, and midtrimester prenatal diagnosis is feasible. Genetic counseling depends on accurate prognostic and therapeutic data. We describe two new cases, a 4-year-old boy with unilateral coronal synostosis and radiohumeral synostosis on the same side and an 18-month-old girl with brachycephaly and imperforate anus.

Abnormalities, Multiple↗
PubMed1997

Moyamoya disease in a child with glycogen storage disease type Ia.

A three-year-old child affected by glycogen storage disease (GSD) type Ia presented with acute hemiplegia secondary to Moyamoya disease. So far, the association of moyamoya with GSD Ia had only been reported twice. The rarity of both conditions makes their association unlikely to be a chance event and an etiological relationship between them must be considered.

Child, Preschool↗
PubMed1997

Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature.

BACKGROUND: Hepatocellular adenomas may develop in patients with glycogen storage disease types I and III, and the malignant degeneration of adenomas in hepatocellular carcinoma has been reported in ten cases. The aim of this work was to study the characteristics of hepatic adenomas in a large series of 43 patients with glycogen storage disease types I and III and to determine the optimal means of follow-up. METHODS: The charts of 43 patients with glycogen storage disease type I and III were studied. In all these patients, abdominal ultrasonography and the determination of serum alpha-fetoprotein had been performed yearly and serum concentrations of several proteins were determined once. RESULTS: 51.8% of patients with type I and 25% of patients with type III glycogen storage disease had hepatic adenomas at the time of the study. The male to female ratio was 2 to 1 in type I, and no female had adenomas in type III. No evidence of malignant transformation was observed during the follow-up period. Serum concentrations of several proteins were significantly higher in patients with hepatic adenomas than in patients without such lesions. CONCLUSIONS: In patients with glycogen storage disease type I and III, the determination of alpha-fetoprotein serum concentration has to be combined with yearly hepatic ultrasound examinations. Other investigations such as CT scan should be considered when the size of any adenoma increases. The malignant transformation of hepatocellular adenoma into hepatocellular carcinoma remains a rare event.

Adenoma, Liver Cell↗
PubMed1997

[Antley-Bixler syndrome. Description of two new cases and review of the literature. Prognostic and therapeutic aspects].

Antley-Bixler syndrome was first described in 1975, and to date, 20 cases have been reported. In addition to brachycephaly, the syndrome is associated with midface hypoplasia often with choanal stenosis or atresia, bilateral radiohumeral synostosis, multiple joint contractures, femoral bowing and long bone fractures, "pear-shaped nose", dysplasic ears, and occasionally urogenital or cardiac defects. Survival is closely linked to upper airway obstruction, which also affects (with craniosynostosis) mental prognosis. Association and severity of malformations are variable, and while numerous children have died early from respiratory distress, one third of them are alive, and have had quite satisfactory development. With early and effective prevention of respiratory complications, and early treatment of craniosynostosis, overall prognosis can be favorable. The mode of inheritance is probably autosomal recessive and midtrimester prenatal diagnosis is feasible; genetic counseling depends on accurate prognostic and therapeutic data. We describe 2 further cases. The first a 4 years old male, with unilateral coronal synostosis and radiohumeral synostosis predominating on the same side. The second an 18 months old female, with brachycephaly and an imperforate anus.

Abnormalities, Multiple↗
PubMed1996

Current therapy for Crigler-Najjar syndrome type 1: report of a world registry.

This study represents a multicenter survey on the management of patients with Crigler-Najjar syndrome (CNS) type 1. The aim of the survey was to find guiding principles for physicians in the care of these patients. Fifty-seven patients were included. At the time of inclusion, 21 patients had received a liver transplant (37%). The average age at transplantation was 9.1 +/- 6.9 years (range, 1-23 years); the age of the patients who had not been transplanted at the time of inclusion was 6.9 +/- 6.0 years (range, 0-23 years). Brain damage had developed in 15 patients (26%). Five patients died, and 10 are alive with some degree of mental or physical handicap. In 2 patients, ages 22 and 23 years, early signs of bilirubin encephalopathy could be reversed, in 1 by prompt medical intervention followed by liver transplantation and in the other by prompt liver transplantation. Seven patients underwent transplantation with some degree of brain damage at the time of the surgery; 1 of these died after retransplantation, 2 improved neurologically, and 4 remained neurologically impaired. The age of 8 patients with and 13 without brain damage at or before transplantation was 14.3 +/- 5.9 and 5.9 +/- 5.4 years (P < .01), respectively. Therapy of CNS type 1 consists of phototherapy (12 h/d), followed by liver transplantation. Phototherapy, although initially very effective, is socially inconvenient and becomes less efficient in the older age group, thus also decreasing compliance. Currently, liver transplantation is the only effective therapy. This survey shows that, in a significant number of patients, liver transplantation is performed after some form of brain damage has already occurred. From this, one must conclude that liver transplantation should be performed at a young age, particularly in situations in which reliable administration of phototherapy cannot be guaranteed.

Adolescent↗
PubMed1996

Increased paternal age in CHARGE association.

The acronym CHARGE refers to a non-random clustering of congenital malformations whose cause remains unknown. Here, we report on a series of 41 patients and find a significant increase in mean paternal age of birth of CHARGE patients (33.7 +/- 8 years) compared with the control population (30.8 +/- 5 years). In contrast, maternal age was not statistically different in patients and controls. These data suggest the possible role of a dominant mutation or, less likely, a subtle chromosomal abnormality in CHARGE association.

Abnormalities, Multiple↗
PubMed1996

Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy.

A new cerebral disorder, described in three unrelated children, has recognizable clinical, radiologic, and neuropathologic findings. The onset occurs from early infancy to adolescence with slowing of cognitive performance, rare convulsive seizures, and a mixture of extrapyramidal, cerebellar, and pyramidal signs. CT shows progressive calcifications in the basal and cerebellar gray nuclei and the central white matter. MRI reveals diffuse abnormal signals of the white matter on T2-weighted sequences. A special feature is the development of parenchymal cysts in the cerebellum and the supratentorial compartment, leading to compressive complications and surgical considerations. Neuropathologic examination of surgically removed pericystic samples reveals angiomatous-like rearrangements of the microvessels, together with degenerative secondary changes of other cellular elements. Both the anatomic findings and the course of the disease suggest a constitutional, diffuse cerebral microangiopathy resulting in microcystic, then macrocystic, parenchymal degeneration.

Brain Diseases↗
PubMed1995

Failure of cefotaxime treatment in two children with meningitis caused by highly penicillin-resistant Streptococcus pneumoniae.

Two infants, aged 8.5 and 11 months, were admitted for meningitis caused by Streptococcus pneumoniae. Failure of cefotaxime led to the identification of highly penicillin-G-resistant strains. Minimum inhibitory concentrations (MICs) for penicillin were > 2 micrograms/ml, and cefotaxime MICs were 2 micrograms/ml. Both patients rapidly responded to a combination of i.v. imipenem and rifampicin. It is now mandatory to test in-vitro susceptibilities of Streptococcus pneumoniae to penicillin G and other beta-lactam agents when meningitis is diagnosed in infants.

Anti-Bacterial Agents↗