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ABSTRACT: The objective of this study was to determine which of the many risk factors for nephrocalcinosis (NC) in preterm infants are most relevant.
In 55 neonates born before 32 completed weeks of gestation, parameters relevant to NC were analyzed. Median birthweight was 1010 g (range 500-2070 g). Fifteen (27%) asymptomatic children had ultrasonographic NC.
In multivariate analysis the strongest independent risk factor was furosemide therapy above 10 mg per kg bodyweight cumulative dose, with a 48-fold increased risk of NC (odds ratio confidence interval 4.0-585, P < 0.01). The risk of NC was 1.65-fold higher per 100 g lower weight (1.07-2.56, P= 0.02) and 4.5-fold higher per mmol/l of urinary calcium concentration (1.14-17.7, P= 0.03). Many other risk factors were only significant in univariate analysis (gestational age, mechanical ventilation, infection, broncho-pulmonary dysplasia, blood transfusions, intraventricular hemorrhage, surfactant therapy, vasopressors, phenobarbital or caffeine, duration of hospital stay), indicating an indirect effect only. Other parameters of calcium and phosphate homeostasis were not significant, possibly due to standardized supplementation.
We suggest that in preterm infants, furosemide should be prescribed with caution and close monitoring of calcium excretions is advisable. Some guidelines for infant respiratory distress syndrome now favor calcium-sparing thiazides if diuretics are considered.
Pediatrics International 05/2009; 52(1):51-6. · 0.63 Impact Factor
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ABSTRACT: Ehlers-Danlos syndrome (EDS) dermatosparaxis type (type VIIC) and the related disease of cattle dermatosparaxis, are recessively inherited connective tissue disorders, caused by a deficient activity of procollagen I N-proteinase, the enzyme that excises the N-terminal propeptide in procollagen type I, type II, and type III. Although well documented in cattle, to date only seven human cases have been recorded, most of them aged under 2 years. We document the natural history of three patients with EDS dermatosparaxis type, two of whom have been reported before the age of 2 years, and one new patient. The phenotype of the patients, and especially the facial resemblance, is striking, making this a clinically recognizable condition. The most consistent anomalies during the first years of life are premature rupture of the membranes, extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age. The children are at risk for rupture of internal organs due to soft tissue fragility, as is illustrated by different internal events in two of the three patients described here. Orofacial features include micrognathia, a frontal open bite, and gingival hyperplasia with varying degrees of hyperkeratosis. The deciduous dentition shows abnormal morphology of the molars, obliteration of the tooth pulp, and severe enamel attrition. The permanent dentition shows agenesis and microdontia of several teeth. Tooth discoloration, dysplastic roots, and tooth pulp obliteration are present in a restricted number of permanent teeth.
American Journal of Medical Genetics Part A 12/2004; 131(1):18-28. · 2.39 Impact Factor
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Alain Colige,
Lieve Nuytinck,
Ingrid Hausser,
Anthonie J van Essen,
Marc Thiry,
Christian Herens,
Lesley C Adès,
Fransiska Malfait,
Anne De Paepe, Peter Franck,
Gerhard Wolff,
Jan C Oosterwijk,
J H Sillevis Smitt,
Charles M Lapière,
Betty V Nusgens
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ABSTRACT: Ehlers-Danlos syndrome (EDS) type VIIC, or dermatosparactic type, is a recessively inherited connective tissue disorder characterized, among other symptoms, by an extreme skin fragility resulting from mutations inactivating ADAMTS-2, an enzyme excising the aminopropeptide of procollagens type I, II, and III. All previously described mutations create premature stop codons leading to a marked reduction in the level of mRNA. In this study, we analyzed the ADAMTS2 cDNA sequences from five patients displaying clinical and/or biochemical features consistent with a diagnosis of either typical or potentially mild form of EDS type VIIC. Three different alterations were detected in the two patients with typical EDS type VIIC. The first patient was homozygous for a genomic deletion causing an in-frame skipping of exons 3-5 in the transcript. In the second patient, the allele inherited from the mother lacks exon 3, generating a premature stop codon, whereas the paternal allele has a genomic deletion resulting in an in-frame skipping of exons 14-16 at the mRNA level. Although the exons 3-5 or 14-16 encode protein domains that have not been previously recognized as crucial for ADAMTS-2 activity, the aminoprocollagen processing was strongly impaired in vitro and in vivo, providing evidence for the requirement of these domains for proper enzyme function. The three other patients with a phenotype with some resemblance to EDS type VIIC only had silent and functionally neutral variations also frequently found in a normal population.
Journal of Investigative Dermatology 11/2004; 123(4):656-63. · 6.31 Impact Factor
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Alain Colige,
Lieve Nuytinck,
Ingrid Hausser,
Anthonie J van Essen,
Marc Thiry,
Christian Herens,
Lesley C Ad|[egrave]|s,
Fransiska Malfait,
Anne De Paepe, Peter Franck,
Gerhard Wolff,
Jan C Oosterwijk,
JHSillevis Smitt,
Charles M Lapi|[egrave]|re,
Betty V Nusgens
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ABSTRACT: Ehlers–Danlos syndrome (EDS) type VIIC, or dermatosparactic type, is a recessively inherited connective tissue disorder characterized, among other symptoms, by an extreme skin fragility resulting from mutations inactivating ADAMTS-2, an enzyme excising the aminopropeptide of procollagens type I, II, and III. All previously described mutations create premature stop codons leading to a marked reduction in the level of mRNA. In this study, we analyzed the ADAMTS2 cDNA sequences from five patients displaying clinical and/or biochemical features consistent with a diagnosis of either typical or potentially mild form of EDS type VIIC. Three different alterations were detected in the two patients with typical EDS type VIIC. The first patient was homozygous for a genomic deletion causing an in-frame skipping of exons 3–5 in the transcript. In the second patient, the allele inherited from the mother lacks exon 3, generating a premature stop codon, whereas the paternal allele has a genomic deletion resulting in an in-frame skipping of exons 14–16 at the mRNA level. Although the exons 3–5 or 14–16 encode protein domains that have not been previously recognized as crucial for ADAMTS-2 activity, the aminoprocollagen processing was strongly impaired in vitro and in vivo, providing evidence for the requirement of these domains for proper enzyme function. The three other patients with a phenotype with some resemblance to EDS type VIIC only had silent and functionally neutral variations also frequently found in a normal population.Keywords: ADAMTS2, dermatosparaxis, Ehlers–Danlos Syndrome, genetic skin disease, procollagen peptidase
Journal of Investigative Dermatology 09/2004; 123(4):656-663. · 6.31 Impact Factor
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ABSTRACT: The case of a 7-year-old boy suffering from recurrent nocturnal and occasional daytime attacks with intense fear and complex visual hallucinations is presented. His state was otherwise normal, as were routine electroencephalographic (EEG) and magnetic resonance imaging (MRI) investigations in the past. Several differential diagnoses such as panic disorder, pavor nocturnus, and nightmares were considered but could not be definitely established or excluded. Since the attacks appeared after the divorce of his parents, an adjustment disorder was suspected, and the patient received psychotherapy for more than 2 years without an effect on the attacks. Only when long-term video-EEG recorded two typical attacks with left temporal ictal seizure patterns was focal epilepsy diagnosed and successfully treated with antiepileptic medication. A suspected origin of seizures in the amygdala was supported by a high-resolution MRI showing a cortical dysplasia extending from the left anteromedial temporal lobe to the amygdala. The case exemplifies difficulties in the differential diagnosis of panic-like attacks and underlines the value of long-term video-EEG, which may be necessary to establish the correct diagnosis and to prevent ineffective therapeutical approaches.
Journal of Child Neurology 04/2002; 17(3):230-3. · 1.75 Impact Factor
