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Biomedical subjects

L Monnens

Publications and source records attributed to L Monnens.

At least 37 records · Page 2Linked to original sources
PubMed1992

Acute renal failure in a neonate due to pelviureteric candidal bezoars successfully treated with long-term systemic fluconazole.

Systemic candidiasis with renal involvement is a rare but well-recognized complication during intensive care treatment in very-low-birth-weight infants. We report a term neonate who developed anuria associated with bilateral bezoar formation in the renal pelvis and candidemia. The treatment consisted of placement of a nephrostomy tube in the left kidney, short-term irrigation with amphotericin B and iv, and later, oral administration of fluconazole.

Acute Kidney Injury↗
PubMed1991

Analysis of chromosome aberrations and sister chromatid exchanges in peripheral blood lymphocytes of newborns after vitamin K prophylaxis at birth.

In many countries vitamin K prophylaxis at birth is recommended to prevent bleeding in infants due to vitamin K deficiency. Because the incidence of clinical vitamin K deficiency is very low, such a vitamin K administration should be completely safe. However, an increase in sister chromatid exchanges in lymphocytes of fetal sheep 24 h after injection of vitamin K1 has been reported. Therefore, a study concerning genotoxicity of vitamin K1 in man was conducted. Sister chromatid exchanges and chromosome aberrations were analyzed in peripheral blood lymphocytes of six newborns 24 h after intramuscular administration of 1 mg vitamin K1 and in six control neonates. The mean number of sister chromatid exchanges per metaphase in the vitamin K group was 8.88 +/- 1.22 as compared with 9.05 +/- 1.14 in the control group (NS). The mean number of chromosome aberrations per 100 mitoses was 3.00 +/- 2.61 in the vitamin K group and 2.50 +/- 1.87 in the control group (NS). Vitamin K1 plasma concentrations ranged from 115 to 1150 ng/mL (255 to 2555 x 10(-9) M) in the supplemented group, a 5000-fold rise as compared with the control group (p less than 0.01). We did not find any evidence for genetic toxicity due to the administration of 1 mg vitamin K1 intramuscularly to the newborn child.

Case-Control Studies↗
PubMed1990

Nephrosis in two siblings with infantile sialic acid storage disease.

The diagnosis of infantile sialic acid storage disease (ISSD) was established in two siblings on the basis of typical clinical signs and the biochemical findings of hyperexcretion and intracellular storage of free sialic acid. A severe, steroid resistant nephrosis occurred in both siblings. The activities of lysosomal enzymes, including sialidase, were normal. A combined detection method for sialic acids with Limax flavus agglutinin labelling and phosphotungstic acid staining showed severely alterated sialic acid components in epithelial kidney cells and indicate a causal relationship between the nephrosis and the underlying biochemical defect. Further observations of ISSD patients with renal involvement will prove if a separate nephropathic phenotype exists.

Carbohydrate Metabolism, Inborn Errors↗
PubMed1990

Urinary excretion of prostaglandins during infancy and childhood: influence of age, sodium restriction and posture.

The influences of age, sodium restriction and posture on 24-hour urinary excretion of prostaglandin E2 (PGE2), prostaglandin F2 alpha (PGF 2 alpha), 6-keto-prostaglandin F1 alpha (6-keto-PGF 1 alpha) and thromboxane B2 (TXB2) were investigated in 111 healthy children and youngsters in the age between 1 day and 16 years. A considerable degree of variation was found in normal 24-hour urinary prostaglandin excretion in all age groups. There was no significant effect of age on the urinary excretion of prostaglandins when data were corrected for body surface area. In addition, sodium restriction and posture had no influence on the excretion of PGE2, PGF 2 alpha, 6-keto-PGF 1 alpha and TXB2. Our results indicate that in the first days of life the kidney already has the capacity to synthesize prostaglandins in amounts comparable to older children.

Adolescent↗
PubMed1990

Evidence for a proximal site of action of atrial natriuretic peptide in man.

The site of action of atrial natriuretic peptides (ANP) in man remains uncertain. In this study the attention was focused on the proximal tubule. Three markers of the proximal tubular reabsorption were used as a tool: lithium, amino acids and beta 2-microglobulin. The reabsorption of these three substances was decreased during ANP infusions in 3 normal sodium-replete male volunteers. These findings suggest that ANP not only decreases distal sodium reabsorption, but also proximal fractional tubular sodium reabsorption in man.

Adult↗
PubMed1989

Further analysis of the disturbed adrenocortical function in the cerebro-hepato-renal syndrome of Zellweger.

Plasma aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, 11-desoxycortisol, cortisol and cortisone were determined simultaneously in small plasma samples obtained during an i.v. ACTH (Synacthen) stimulation test in five patients (age 4-7 years) with Zellweger syndrome. The response of all ACTH-dependent steroids to Synacthen was severely impaired in all patients, despite normal basal levels. It can be concluded that the biochemical defect in adrenal steroidogenesis causing the inadequate response to ACTH injection is located proximal to progesterone. We propose that the lack of responsiveness to ACTH is secondary to an abnormality of ACTH receptors on the adrenocortical cell. The extremely low levels of non-specific lipid transfer protein may be a contributing factor.

Adrenal Cortex↗
PubMed1989

Three-point linkage analysis using multiple DNA polymorphic markers in families with X-linked nephrogenic diabetes insipidus.

The gene for X-linked nephrogenic diabetes insipidus (NDI), a disorder which, if untreated, causes severe dehydration, mental retardation, and possibly death in affected males, has been mapped recently to the Xq28 band through demonstration of linkage to the DX552 locus and other DNA markers (N. Knoers et al., 1987, Cytogenet. Cell Genet. 46:640; M. Kambouris et al., 1987, Cytogenet. Cell Genet. 46:636). Linkage studies in 11 families with NDI have enabled us to map the NDI gene between closely linked flanking markers in the Xq28 region and to obtain the following gene order: centromere-F9-DXS98-F8/CBD,CBP-DXS52/NDI-DXS134- telomere. These results have implications for presymptomatic and prenatal diagnosis of NDI and should also improve the prospects for identifying the fundamental gene defect underlying this disorder.

Chromosome Deletion↗
PubMed1989

[The De Barsy syndrome].

De Barsy syndrome is defined by the combination of a progeroid aspect, cutis laxa, cornea clouding, growth retardation, mental retardation and athetoid movements. The clinical symptoms of a male infant are described and compared with all other cases reported in literature. The aetiology of this syndrome is unclear; inheritance is probably autosomal recessive.

Athetosis↗
PubMed1988

Plasma concentrations of vitamin K1 and PIVKA-II in bottle-fed and breast-fed infants with and without vitamin K prophylaxis at birth.

Plasma vitamin K1 and proteins induced by vitamin K absence (PIVKA) were assayed simultaneously 1-4 days and 29-35 days after delivery in three groups of infants: breast-fed not receiving vitamin K at birth (n = 12), bottle-fed without vitamin K administration at birth (n = 7) and breast-fed receiving 1 mg vitamin K1 administered by intramuscular injection at birth (n = 13). The bottle-fed infants had a significantly higher vitamin K1 plasma level than breast-fed infants who did not receive vitamin K1 at birth. Extremely high levels of vitamin K were obtained 1-4 days after intramuscular administration. At the age of 1 month, breast-fed infants had the same plasma vitamin K1 concentration whether or not they had received vitamin K1 supplements. Decarboxy prothrombin (PIVKA-II) a reliable indicator of biochemical vitamin K deficiency, was found in 5 out of 12 breast-fed and in 2 out of 6 bottle-fed infants who had not received supplemental vitamin K1 after birth. In a separate study, we followed up to 90 days after birth a larger group if infants. PIVKA-II was found with significantly greater frequency in breast-fed infants receiving no vitamin K than in breast-fed infants receiving 1 mg vitamin K intramuscularly at birth, or in bottle-fed infants without extra vitamin K1. These data form a strong argument for routine vitamin K prophylaxis after birth for all breast-fed infants. The optimum dose and manner of administration require further study.

Biomarkers↗
PubMed1988

Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome.

Ten families with nephrogenic diabetes insipidus (NDI) have been analysed for restriction fragment length polymorphisms (RFLPs). A search for linkage was performed using various chromosome-specific single-copy DNA probes of known regional assignment to the human X chromosome. Close linkage was found between the disease locus and the markers DXS52, DXS15, DXS134 and the F8 gene. This result assigns the NDI gene to the subtelomeric region of the long arm of the X chromosome. The regional localization of the gene by the identification of closely linked markers should have repercussions for genetic counselling and prevention in NDI families.

Alleles↗
PubMed1988

Localization of the gene for X-linked Alport's syndrome.

X-chromosomal DNA probes defining various polymorphic DNA markers were used to study genetic linkage in three families with Alport's syndrome. With the DXS17 marker, only a single cross-over was observed in 26 informative meioses, and evidence for linkage was also obtained with the DXS11 marker. These data localize the gene for the X-linked form of Alport's syndrome to the middle of the long arm of the X chromosome.

DNA Probes↗
PubMed1988

Haemolytic-uraemic syndrome: a 10-year follow-up study of 73 patients.

Long-term follow-up is presented of 73 patients suffering from the haemolytic-uraemic syndrome 10 years after the acute initial illness. The patients were subdivided into three groups, according to the criteria proposed by Gianantonio and based on the duration of oliguria and/or anuria. Four out of 38 patients belonging to the first group (oliguria for less than 7 days) had a slightly increased blood pressure as the only sequela. Two patients out of group two (n = 29, oliguria for 7-14 days or anuria for less than 7 days) had a diminished GFR and a reduced concentrating capacity, some proteinuria, and mild hypertension. Five other patients had slight proteinuria (less than 500 mg/24 h) and one of them a mild hypertension. All six patients belonging to the third group (oliguria for more than 14 days or anuria for more than 7 days) had late sequelae: two started haemodialysis more than 10 years after the initial phase; three have a decreased GFR and concentrating capacity. The unique remaining patient with a normal GFR without hypertension has a decreased concentrating capacity. The importance of careful treatment in children with a decreased GFR 2 years after the initial phase is stressed.

Child↗
PubMed1988

Linkage of X-linked nephrogenic diabetes insipidus with DXS52, a polymorphic DNA marker.

In five families with X-linked nephrogenic diabetes insipidus (NDI), linkage studies with the DNA marker DXS52, defined by probe St14, have shown no recombination with a maximum combined lod score of 6.40. These results assign the NDI gene to the subtelomeric region of the X chromosome long arm. This finding should facilitate identification of carriers and should also be helpful in finding the NDI gene itself.

DNA↗