In 25 normally non-pregnant women, 543 normally pregnant women and 75 pregnant women with diabetes mellitus or gestational diabetes mellitus, the relationship between the serum concentration of 1,5-anhydro-D-glucitol (1-deoxy-glucose) and carbohydrate metabolism was studied. The concentration of 1,5-anhydro-D-glucitol was estimated by means of gas-liquid chromatography. In normally non-pregnant women the concentration was found to be 18.6 +/- 5.2 mg/l (mean +/- SD). During the normal pregnancy, from 9 weeks of gestation, a steadily decreasing concentration was observed as the pregnancy progressed and the lowest value (10.2 +/- 4.6 mg/l) was found in the third trimester. After 5 days of puerperium the concentrations were found to be 10.8 +/- 3.7 mg/l. On the 30th day postpartum, the level was within the range for non-pregnant subjects. The values in pregnant women with diabetes mellitus and gestational diabetes mellitus were mostly below 10 mg/l throughout the entire pregnant period. The 1,5-anhydro-D-glucitol concentration was not affected by meals or oral glucose loading. A concentration below 10 mg/l was found in 36% of the normally pregnant women, where oral glucose tolerance tests and measurement of glycohemoglobin were shown to be within the normal range. The present study suggests that a change of 1,5-anhydro-D-glucitol level during pregnancy may reflect a mild alteration of carbohydrate metabolism that goes undetected by all the other diabetic indicators.
Two autopsy cases of cystic brain lesion in utero are reported. One of them was a donor infant of twin transfusion syndrome. The baby died immediately after birth and showed multicystic encephalomalacia in the distribution of the anterior cerebral artery. The second baby was a stillborn infant with thanatophoric dwarfism with associated chronic periventrlcular leukomalacia (PVL). It was suggested that the multicystic encephalomalacia and chronic PVL found in the first and second cases were caused by persistent circulatory disturbances in utero.
A newborn Japanese girl with Kabuki syndrome had neonatal persistent hyperinsulinemic hypoglycemia, which seemed to be a rare complication of Kabuki syndrome. On sequence analysis she was found to have a novel heterozygous KMT2D mutation. Diazoxide therapy was effective for the hypoglycemia. Hypoglycemia should be considered when Kabuki syndrome patients have convulsion or other non-specific symptoms. Diazoxide may help to improve hypoglycemia in patients with Kabuki syndrome complicated with hyperinsulinemic hypoglycemia.
Umbilical artery blood velocity waveforms were recorded by a pulsed Doppler system in the third trimester of pregnancy in 16 diabetic women (12 class B, 1 class C, 3 class D) and the waveforms were analysed for resistance index (RI = peak systolic velocity minus end diastolic velocity/peak systolic velocity). There was no significant correlation between the RI values and either serum glucose (r = 0.385) or fructosamine levels (r = 0.380). However, the RI values were raised in two cases with serum glucose levels of over 300 mg/dl. With a fall in serum glucose levels, the RI values returned to the normal range. No abnormal umbilical artery velocity waveforms were found when the serum glucose level was below 200 mg/dl.
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