-
Kidney & Blood Pressure Research 2002Gitelman's syndrome (GS) is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria and these phenotypic features have been shown to be... (Review)
Review
BACKGROUND
Gitelman's syndrome (GS) is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria and these phenotypic features have been shown to be attributable to mutations in the gene encoding the thiazide-sensitive Na/Cl cotransporter (NCCT). Until now, 55 different mutations have been reported and most of the families affected with GS exhibit autosomal recessive inheritance.
METHODS
All 26 exons of the human NCCT gene were investigated in 2 German NCCT-deficient patients and their families. Mutation detection was performed by either direct automated sequencing of polymerase chain reaction (PCR)-amplified DNA products or by sequence analysis of cloned PCR products.
RESULTS
In a 47-year-old German GS female a novel non-conservative missense mutation (S314F) and a complex deletion/insertion in the NCCT gene were found to be associated with the disorder. A further novel non-conservative substitution (S402F) together with a frequently observed R209W exchange were found in a 19-year-old German GS female.
CONCLUSIONS
The observation of a compound heterozygote state in both females affected and the absence of a GS phenotype in their relatives carrying a single mutant allele is consistent with an autosomal recessive pattern of inheritance.
Topics: Adult; Alkalosis; Amino Acid Sequence; Calcium; Carrier Proteins; Female; Gene Deletion; Heterozygote; Humans; Hypokalemia; Magnesium; Middle Aged; Molecular Sequence Data; Mutation, Missense; Pedigree; Phenotype; Receptors, Drug; Sodium Chloride Symporters; Solute Carrier Family 12, Member 3; Symporters
PubMed: 12590198
DOI: 10.1159/000068695 -
The Cochrane Database of Systematic... 2002Many women experience leg cramps in pregnancy. They become more common as pregnancy progresses and are especially troublesome at night. (Review)
Review
BACKGROUND
Many women experience leg cramps in pregnancy. They become more common as pregnancy progresses and are especially troublesome at night.
OBJECTIVES
The objective of this review was to assess methods of preventing and treating leg cramps in pregnancy.
SEARCH STRATEGY
We searched the Cochrane Pregnancy and Childbirth Group trials register (October 2001).
SELECTION CRITERIA
Randomised trials of treatments for leg cramps in pregnancy.
DATA COLLECTION AND ANALYSIS
Trial quality was assessed and data were extracted independently by two reviewers.
MAIN RESULTS
Five trials involving 352 women were included. The trials were of moderate quality. The only placebo-controlled trial of calcium treatment showed no evidence of benefit. Trials comparing sodium chloride with placebo (odds ratio 0.54, 95% confidence interval 0.23 to 1.29) and calcium with sodium chloride (odds ratio 1.23, 95% confidence intervals 0.47 to 3.27 ) showed no evidence of benefit. Placebo controlled trials of multivitamin with mineral supplements (odds ratio 0.23, 95% confidence intervals 0.05 to 1.01) and magnesium (odds ratio 0.18, 95% confidence intervals 0.05 to 0.60) provided some suggestion of benefit.
REVIEWER'S CONCLUSIONS
The evidence that calcium reduces cramp is weak and seems to depend on placebo effect. The evidence for sodium chloride is stronger but the results of the sodium chloride trial may no longer be relevant because of dietary changes which include an increased sodium intake in the general population. It is not possible to recommend multivitamins with mineral supplementation, as it is not clear which ingredient, if any, is helping. If a woman finds cramp troublesome in pregnancy, the best evidence is for magnesium lactate or citrate taken as 5mmol in the morning and 10mmol in the evening.
Topics: Female; Humans; Leg; Muscle Cramp; Pregnancy; Pregnancy Complications
PubMed: 11869565
DOI: 10.1002/14651858.CD000121 -
The Journal of Maternal-fetal Medicine 1999The objective was to perform a systematic review of prospective randomized trials evaluating the efficacy of oral tocolytics in the prevention of recurrent preterm labor... (Review)
Review
OBJECTIVE
The objective was to perform a systematic review of prospective randomized trials evaluating the efficacy of oral tocolytics in the prevention of recurrent preterm labor and its associated complications.
METHODS
A MEDLINE search of English language articles published since 1966 was performed to identify studies of maintenance oral tocolytic therapy. Studies were included in the review which: 1) randomized patients to an oral tocolytic after stabilization with parenteral therapy; 2) reported results for either a placebo or a control group; and 3) included patients with intact membranes only. These studies were analyzed for nine outcomes, including incidence of preterm delivery, incidence of recurrent preterm labor, latency from treatment to delivery, gestational age, birthweight, admission to an intensive care nursery (ICN), incidence of respiratory distress syndrome (RDS), incidence of intraventricular hemorrhage (IVH), and perinatal mortality.
RESULTS
Seven studies met the inclusion criteria, four of which used oral terbutaline for the treatment arm (two had a control group, and two had a placebo group), and one used oral ritodrine (with a placebo group). Of the remaining two, one used oral ritodrine and oral magnesium chloride (with a control group), and the other used oral terbutaline and oral magnesium chloride (with a placebo group). The results of the individual studies suggest that there was no beneficial effect of oral tocolytic therapy on the incidence of preterm delivery (odds ratio (OR) range: 0.7-2.0), incidence of preterm labor recurrence (OR range: 0.6-3.2), ICN admission (OR range: 1.3-2.0), incidence of RDS (OR range 0.1-4.3), incidence of IVH (OR range 0.3-2.0), perinatal mortality (OR range: 1.6-4.3), or gestational age at delivery.
CONCLUSIONS
We concluded that a meta-analysis based on the available studies is not possible due to the fact that there is little that these seven studies have in common with respect to treatment comparisons. In addition, inconsistent definitions of outcome variables makes pooling this data inappropriate and invalid. Therefore, well-designed, large, randomized trials are needed to evaluate the efficacy of oral tocolytics in improving perinatal outcome.
Topics: Administration, Oral; Female; Gestational Age; Humans; MEDLINE; Pregnancy; Prospective Studies; Randomized Controlled Trials as Topic; Tocolytic Agents
PubMed: 10406302
DOI: 10.1002/(SICI)1520-6661(199907/08)8:4<177::AID-MFM8>3.0.CO;2-G