Delay of Fetal Anatomy Ultrasound Assessment Based on Maternal Body Mass Index Does Not Reduce the Rate of Inadequate Visualization.

OBJECTIVES: To determine whether delay of initial anatomy ultrasound based on the maternal body mass index (BMI) reduces the rate of inadequate visualization compared to standard timing at 180/7 to 196/7 weeks. METHODS: A retrospective study of singleton anatomy assessments was conducted at a tertiary care center in the 2-year period before (A, 2012-2014) and after (B, 2014-2016) protocol initiation. Assessments in period B were scheduled on the basis of the BMI in the first trimester: lower than 25 kg/m2 , 180/7 to 196/7 weeks; 25 to 29.9 kg/m2 , 190/7 to 206/7 weeks; 30 to 34.9 kg/m2 , 200/7 to 216/7 weeks; 35 to 39.9 kg/m2 , 210/7 to 226/7 weeks; and 40 kg/m2 or higher, 220/7 to 236/7 weeks. In period A, assessments were scheduled between 180/7 and 196/7 weeks. The rate of inadequate visualization and repeated assessments in periods A and B were compared. Multivariable logistic regression, per-protocol, and BMI subgroup analyses were completed. RESULTS: In total, 3491 pregnancies in period A and 3672 in period B were included. In period B, 74% were scheduled per protocol; however, this rate decreased for higher-BMI categories (52% for BMI ≥40 kg/m2 ). The inadequate visualization rate was slightly higher in period B versus A (16.9% versus 15.0%; P = .03) and exceeded 35% for a BMI of 40 kg/m2 or higher, with or without delay. After adjusting for maternal age and fetal presentation, period B had small increased odds of inadequate visualization versus period A (adjusted odds ratio, 1.2; 95% confidence interval, 1.02-1.38). Repeated assessment rates were similar in periods B and A (14.0% versus 13.1%; P = .25). CONCLUSIONS: In pregnancies with obesity, a protocol delaying the initial assessment beyond 196/7 weeks based on the maternal BMI does not reduce the rate of inadequate visualization.

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

PURPOSE: Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder caused by pathogenic variants in GAMT. Brain creatine depletion and guanidinoacetate accumulation cause developmental delay, seizures and movement disorder. Treatment consists of creatine, ornithine and arginine-restricted diet. We initiated an international treatment registry using Research Electronic Data Capture (REDCap) software to evaluate treatment outcome. METHODS: Physicians completed an online REDCap questionnaire. Clinical severity score applied pre-treatment and on treatment. RESULTS: There were 22 patients. All had developmental delay, 18 had seizures and 8 had movement disorder. Based on the clinical severity score, 5 patients had a severe, 14 patients had a moderate and 3 patients had a mild phenotype. All patients had pathogenic variants in GAMT. The phenotype ranged from mild to moderate in patients with the most common c.327G > A variant. The phenotype ranged from mild to severe in patients with truncating variants. All patients were on creatine, 18 patients were on ornithine and 15 patients were on arginine- or protein-restricted diet. Clinical severity score improved in 13 patients on treatment. Developmental delay improved in five patients. One patient achieved normal development. Eleven patients became seizure free. Movement disorder resolved in four patients. CONCLUSION: In our small patient cohort, there seems to be no phenotype-genotype correlation. Creatine and ornithine and/or arginine- or protein-restricted diet were the most useful treatment to improve phenotype.

Mesophyll cells of C4 plants have fewer chloroplasts than those of closely related C3 plants.

The evolution of C(4) photosynthesis from C(3) ancestors eliminates ribulose bisphosphate carboxylation in the mesophyll (M) cell chloroplast while activating phosphoenolpyruvate (PEP) carboxylation in the cytosol. These changes may lead to fewer chloroplasts and different chloroplast positioning within M cells. To evaluate these possibilities, we compared chloroplast number, size and position in M cells of closely related C(3), C(3) -C(4) intermediate and C(4) species from 12 lineages of C(4) evolution. All C(3) species had more chloroplasts per M cell area than their C(4) relatives in high-light growth conditions. C(3) species also had higher chloroplast coverage of the M cell periphery than C(4) species, particularly opposite intercellular air spaces. In M cells from 10 of the 12 C(4) lineages, a greater fraction of the chloroplast envelope was pulled away from the plasmalemma in the C(4) species than their C(3) relatives. C(3) -C(4) intermediate species generally exhibited similar patterns as their C(3) relatives. We interpret these results to reflect adaptive shifts that facilitate efficient C(4) function by enhancing diffusive access to the site of primary carbon fixation in the cytosol. Fewer chloroplasts in C(4) M cells would also reduce shading of the bundle sheath chloroplasts, which also generate energy required by C(4) photosynthesis.