A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency.

Cytochrome P450 oxidoreductase (POR) deficiency is a recently discovered new variant of congenital adrenal hyperplasia. Distinctive features of POR deficiency are the presence of disorders of sexual development in both sexes, glucocorticoid deficiency and skeletal malformations similar to those observed in the Antley-Bixler syndrome.

Diabetic neuropathy examination: a hierarchical scoring system to diagnose distal polyneuropathy in diabetes.

OBJECTIVE: Existing physical examination scoring systems for distal diabetic polyneuropathy (PNP) do not fulfill all of the following criteria: validity, manageability, predictive value, and hierarchy The aim of this study was to adapt the Neuropathy Disability Score (NDS) to diagnose PNP in diabetes so that it fulfills these criteria. RESEARCH DESIGN AND METHODS: A total of 73 patients with diabetes were examined with the NDS. Monofilaments and biothesiometry were used as clinical standards for PNP to modify the NDS. RESULTS: A total of 43 men and 30 women were studied; mean duration of diabetes was 15 years (1-43), and mean age was 57 years (19-90). A total of 24 patients had type 1 diabetes, and 49 patients had type 2 diabetes. Clinically relevant items were selected from the original 35 NDS items (specific item scored positive in >3 patients). The resulting 8-item Diabetic Neuropathy Examination (DNE) score could accurately predict the results of the clinical standards and is strongly hierarchical (H value 0.53). The sensitivity and specificity of the DNE at a cut-off level of 3 to 4 were 0.96 and 0.51 for abnormal monofilament scores, respectively. For abnormal vibration perception threshold scores, these values were 0.97 and 0.59, respectively. Reproducibility as assessed by inter- and intrarater agreement was good. CONCLUSIONS: The DNE is a sensitive and well-validated hierarchical scoring system that is fast and easy to perform in clinical practice.

Apolipoprotein E genotype is a determinant of low-density lipoprotein cholesterol and of its response to a low-cholesterol diet in Type 1 diabetic patients with elevated urinary albumin excretion.

The effect of the apolipoprotein (apo) E genotype on the lipoprotein response to a 1 year low cholesterol diet (200 mg cholesterol per day) was evaluated in 36 patients with Type 1 diabetes mellitus with albuminuria between 10 and 200 microg min(-1). Apo E genotype was characterized by polymerase chain reaction and restriction isotyping. In 11 IDDM patients with at least one epsilon4 allele (apo E4 group), baseline serum total and low density lipoprotein (LDL) cholesterol were higher (p < 0.05 for both) than in 25 patients without an epsilon4 allele and with at least one epsilon3 allele (apo E3 group). Dietary counselling resulted in a similar decrease in cholesterol intake in both groups, whereas linoleic acid did not change. In the apo E4 group, serum total and LDL cholesterol at follow-up fell (p < 0.01 for both) to levels that were not different from those in the apo E3 group, and the changes in these parameters were greater (p < 0.02) than those in the apo E3 group. We conclude that the apo E4 allele is associated with atherogenic lipoprotein abnormalities in Type 1 DM patients with minor elevations in albuminuria when they use their habitual diet. Apo E4 carrying patients respond better to a low cholesterol diet.

[An amebic liver abscess; early suspicion, late detection]. / Een amoebenabces in de lever; vroeg vermoeden, late detectie.

Two men aged 38 and 26 years developed symptoms including pain in the (upper) abdomen, malaise and fever 1.5-5 months after visiting the Caribbean. It was only after repeated ultrasonography that liver abscesses were observed. Adequate treatment was instituted and the patients recovered. The diagnosis of 'amoebic abscess of the liver' is usually based on the clinical presentation, the serological findings and characteristic observations at ultrasonography. However, if patients are seen at an early stage of development of the abscess, the serological findings may be negative and the ultrasonographic findings normal; consequently these findings do not justify exclusion of the diagnosis.

Metastasized malignant fibrous histiocytoma as a cause of gastrointestinal tract haemorrhage.

Malignant fibrous histiocytoma (MFH) is the most frequently diagnosed soft-tissue tumour in adults. Many patients have metastases already at diagnosis. Bleeding metastases in the gastrointestinal tract are very rare. We present what we believe to be the first reported case of bleeding metastasis from a malignant fibrous histiocytoma of the small bowel.

[Acute pulmonary edema caused by hydrochlorothiazide]. / Acuut longoedeem door hydrochloorthiazide.

A 50-year-old woman who received a prescription for hydrochlorothiazide for 'swollen ankles', developed respiratory distress due to acute pulmonary oedema within a few hours after she took the first dose. She was treated with artificial respiration during 3 days and with dopamine and circulatory volume suppletion. She recovered completely. Patient had stopped earlier use of hydrochlorothiazide because of respiratory discomfort. The described adverse effect is rare, but because of the high use of this drug it is important to recognize it.