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J Godard

Publications and source records attributed to J Godard.

82 records · Page 5Linked to original sources
PubMedDate not supplied

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.

Hypophosphatasia is an inherited disorder characterised by defective bone mineralisation and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterisation of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 13 European families affected by perinatal, infantile or childhood hypophosphatasia. Eighteen distinct mutations were found, only three of which had been reported previously in North American and Japanese populations. Most of the 15 new mutations were missense mutations, but we also found two mutations affecting donor splice sites and a nonsense mutation. A missense mutation in the last codon of the putative signal peptide probably affects the final maturation of the protein. Despite extensive sequencing of the gene and its promotor region, only one mutation was identified in two cases, one of which was compatible with a possible dominant effect of certain mutations and the putative role of polymorphisms of the TNSALP gene. In 12 of the 13 tested families, genetic diagnosis was possible by characterisation of the mutations or by use of polymorphisms as genetic markers. Hypophosphatasia diagnosis was assigned in two families where clinical, laboratory and radiographic data were unclear and prenatal diagnosis was performed in one case. The results also show that severe hypophosphatasia is due to a very large spectrum of mutations in European populations with no prevalent mutation and that genetic diagnosis of the disease must be performed by extensive analysis of the gene.

Alkaline Phosphatase↗
PubMedDate not supplied

Clonidine in preterm-infant caudal anesthesia may be responsible for postoperative apnea.

OBJECTIVE: Regional anesthesia without adjunctive general anesthesia or sedation has been recommended for preterm infants to decrease the risk of postoperative apnea. Single-dose caudal local anesthetic has a limited duration, which may be insufficient for long surgery. Addition of clonidine to local anesthetics has been shown to prolong the duration of surgical analgesia. However, respiratory depression related to clonidine may occur in adults. Respiratory depression has not been reported after caudal administration of clonidine in preterm infants. Here we report a case of early postoperative apnea in a waking preterm infant after caudal anesthesia performed with lidocaine, bupivacaine, and clonidine. CASE REPORT: A male infant, 39 postconceptual weeks old, was administered a single-injection caudal anesthesia without sedation with 5 mg/kg lidocaine plus 2.5 mg/kg bupivacaine and 1.25 microg/kg clonidine for bilateral inguinal hernia repair, and had early postoperative apneic events. Except for gestational age, the patient showed no apparent risk factors for postoperative apnea. The infant was monitored 24 hours in a neonatal intensive care unit, and no other apnea was recorded. CONCLUSIONS: Our report suggests that clonidine may be responsible for postoperative apnea in a preterm neonate. Further studies are required to determine the useful safe dose of clonidine for single-injection caudal anesthesia in those infants.

Analgesics↗