Estimating the risk of gestational diabetes mellitus: a clinical prediction model based on patient characteristics and medical history.

OBJECTIVE: To develop a clinical prediction rule that can help the clinician to identify women at high and low risk for gestational diabetes mellitus (GDM) early in pregnancy in order to improve the efficiency of GDM screening. DESIGN: We used data from a prospective cohort study to develop the clinical prediction rule. SETTING: The original cohort study was conducted in a university hospital in the Netherlands. POPULATION: Nine hundred and ninety-five consecutive pregnant women underwent screening for GDM. METHODS: Using multiple logistic regression analysis, we constructed a model to estimate the probability of development of GDM from the medical history and patient characteristics. Receiver operating characteristics analysis and calibration were used to assess the accuracy of the model. MAIN OUTCOME MEASURE: The development of a clinical prediction rule for GDM. We also evaluated the potential of the prediction rule to improve the efficiency of GDM screening. RESULTS: The probability of the development of GDM could be predicted from the ethnicity, family history, history of GDM and body mass index. The model had an area under the receiver operating characteristic curve of 0.77 (95% CI 0.69-0.85) and calibration was good (Hosmer and Lemeshow test statistic, P = 0.25). If an oral glucose tolerance test was performed in all women with a predicted probability of 2% or more, 43% of all women would be tested and 75% of the women with GDM would be identified. CONCLUSIONS: The use of a clinical prediction model is an accurate method to identify women at increased risk for GDM, and could be used to select women for additional testing for GDM.

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance.

Mutations of the tumor necrosis factor receptor 1 (TNFRSF1A) gene underly susceptibility to a subset of autosomal dominant recurrent fevers (ADRFs). We report on a two-generation six-member Dutch family in which a novel R92P mutation and reduced plasma TNFRSF1A levels were found in all the children, including two who are unaffected. However, only the daughter proband and father exhibited a typical TNF-receptor associated periodic syndrome (TRAPS) phenotype. PCR-RFLP analysis revealed that the mutation was not present in 120 control chromosomes from unaffected Dutch individuals. As this R92P mutation is present in two unaffected carriers it appears to be less penetrant than previously reported TNFRSF1A mutations involving cysteine residues in the extracellular domains.

Lymphocytic hypophysitis in a 43-year-old woman.

A woman with sarcoidosis and primary hypothyroidism presented with partial hypopituitarism without pituitary gland enlargement. A clinical diagnosis of lymphocytic hypophysitis was established after exclusion of other possibilities, since a definitive diagnosis can only be made after histological studies. This rare form of chronic inflammation and destruction of the anterior pituitary gland is discussed.

[A Dutch family with familial Mediterranean fever]. / Een Nederlandse familie met familiale mediterrane koorts.

Familial mediterranean fever (or recurrent hereditary polyserositis) is a genetic disorder with an autosomal recessive pattern of inheritance which occurs mostly in patients with eastern Mediterranean origin. Two Dutch patients are described, a 25-year-old women and her 58-year-old father, who suffered from recurring abdominal complaints, fever, and increased erythrocyte sedimentation rate, without evidence of Middle Eastern ancestry or hyperimmunoglobulinemia D.

[Treatment of hyperthyroidism caused by Graves' disease or toxic multinodular goitre by radioiodine: over 80% cure retrospectively after one calculated dose]. / Behandeling van hyperthyreoïdie door de ziekte van Graves of toxisch multinodulair struma met jodium-131: retrospectief ruim 80% genezing na één berekende dosis.

OBJECTIVE: Assessment of the results of radioiodine therapy for hyperthyroidism one year after treatment. DESIGN: Retrospective study of patient reports and a literature search. METHOD: Data were collected from 159 patients with Graves' disease or toxic multinodular goitre who had been treated with a calculated dose of radioiodine (131I) during a four-year period (1994-1998) at the Bronovo Hospital, The Hague, the Netherlands. Percentages of hypothyroidism, euthyroidism and hyperthyroidism one year after the treatment were compared with results from the literature. RESULTS: Of the patients treated for Graves' disease 42% were hypothyroid, 38% were euthyroid and 20% were hyperthyroid one year after radioiodine therapy. For patients with toxic multinodular goitre the figures were 10%, 78% and 12% respectively. These results were comparable with those found in the literature. Two factors influenced the outcome of therapy in patients with Graves' disease: patients with persistent hyperthyroidism were on average younger and low thyroid weight increased the chance of hypothyroidism. Whether the hyperthyroidism was permanent or transient could only be established in less than half of all patients with hormone substitution after treatment, as the substitution had already been started in the first six months. CONCLUSION: One calculated dose of radioiodine can effectively cure hyperthyroidism in over 80% of the patients. It is recommended that an effort is made to discontinue radioiodine treatment after one year so as to exclude transient hypothyroidism and unjustified hormone substitution.

External validation of a clinical scoring system for the risk of gestational diabetes mellitus.

AIM: A prediction rule for gestational diabetes mellitus (GDM) could be helpful in early detection and increased efficiency of screening. A prediction rule by means of a clinical scoring system is available, but has never been validated externally. The aim of this study was to validate the scoring system. METHODS: We used data from a prospective cohort study. Women were assigned a score based on age, BMI and ethnicity. Performance of the scoring system was evaluated in terms of discrimination and calibration (agreement between clinical score and observed probability of GDM). We compared the efficiency of a screening strategy derived from the scoring system with conventional screening. RESULTS: We studied 1266 women. Forty-seven women had GDM (3.7%). The scoring system discriminated moderately (area under the curve=0.64 (95% CI 0.56-0.72)). Calibration was limited (chi(2)=8.89, p=0.06). The screening strategy derived from the scoring system reduced the number of women needed to be screened with 25% for a comparable detection rate to universal screening. CONCLUSION: Despite moderate discriminative capacity and calibration of the scoring system, the screening strategy based on the scoring system appears clinically useful. There is need for better prediction models for GDM.