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We devised biomathematics-based formulae to estimate the standard values of fetal growth of Japanese after 22 weeks' gestation. The growth rates of bi-parietal diameter (BPD), abdominal circumference (AC), femur length (FL), and estimated fetal body weight (EFBW) at the time of gestation were assumed to be proportional to the product of the value at the time and the rest value of an unknown maximum value, respectively. The EFBW was also assumed to follow a multiple logistic function of BPD, AC and FL to fit the standard values of Japanese fetuses published by the Japan Society of Ultrasonics in Medicine. The Mann-Whitney test was used for statistical analysis. The values as a function of gestational day, t, were as follows: BPD(t)=99.6/(1+exp (2.725−0.01837＊t)) (mm); AC(t)=39.7/(1+exp (2.454−0.01379＊t)) (cm); FL(t)=79.6/(1+exp (2.851−0.01710＊t)) (mm); EFBW(t)=8045.1/(1+exp (6.028−0.06582＊BPD(t)−0.1469＊AC(t)+ 0.07377＊FL(t))) (g). EFBW as a function of BPD, AC and FL was as follows: EFBW=8045.1/(1+exp (4.747+ 0.02584＊BPD+0.1010＊AC−0.1416＊FL)) (g). When the BPD, AC and FL were at −2 standard deviation (SD), −1SD, mean and + 2SD, the EFBW values calculated by the formula were statistically closer to the standard values than conventional formulas with p-values of 4.871×10−7, 4.228×10−7, 9.777×10−7 and 0.028, respectively. The formulae based on biomathematics might be useful to estimate the fetal growth standard values.

The late onset type of globoid cell leukodystrophy (GLD) is a rare disorder and only three magnetic resonance imaging (MR) studies have been reported for this disease. We report a sporadic case of late onset GLD. The illness started at the age of 3 years and 8 months with spastic gait. He became bedridden at the age of 4 years and 7 months. The diagnosis was made by deficient activity of galactosylceramidase in lymphocytes, and the biochemical and morphological examinations of the biopsied sural nerve were also conducted. Computed tomography (CT) and MR study revealed that the degenerative change of the white matter was initially recognized in the occipital and parietal lobes and then extended forward. Literature of the CT or MR findings of GLD is also reviewed.

A girl who was clinically suspected of having congenital glucose-galactose malabsorption was investigated for sugar- and amino acid-evoked potential differences in the jejunum in vivo using a jejunal perfusion technique. She was fed an ordinary diet without suffering diarrhea at the time (at age 2) of this study. Her nutritional condition and development were normal. The disaccharidase activities of a biopsy specimen of the jejunal mucosa, which were assayed at 1 year of age when she was not having diarrhea, were normal. Jejunal perfusion of 100-mM solutions of D-glucose or D-maltose evoked no significant change in the electrical potential difference. On the other hand, 100 mM of L-glycine or L-leucine solution evoked a normal increase of the lumen negative potential difference (4.4 mV and 3.6 mV, respectively). Therefore, the patient was diagnosed as having congenital glucose-galactose malabsorption due to a defect of Na-dependent glucose-galactose active transport. These findings indicate that the measurement of sugar- and amino acid-evoked potential differences is a simple and reliable method for the diagnosis of congenital glucose-galactose malabsorption.

The molecular nature of the glycine cleavage system was investigated in 16 patients with nonketotic hyperglycinemia (NKH). The overall activity of the glycine cleavage system was found to be decreased in all of the liver and brain tissue studied. It was undetectable or extremely low in the neonatal type of NKH, whereas there was some residual activity in the infantile type of NKH. Thus the clinical phenotypes do seem to relate to the degree of the defect in the glycine cleavage system. In the neonatal type, a specific defect in P protein was found in 9 cases and a specific defect in T protein in 2 cases. In the infantile type, a partial defect in T protein was found in 2 cases. Differential diagnosis between NKH and ketotic hyperglycinemia is described. A feasibility of prenatal diagnosis of NKH by chorionic villus biopsy is provided.