Can Nurse-Based Management Screening Ensure Adequate Outcomes in Patients With Gestational Diabetes? A Comparison of 2 Organizational Models.

BACKGROUND: Gestational diabetes mellitus (GDM) is an impaired glucose tolerance with onset or first recognition during pregnancy. The purpose of this study is to evaluate the clinical outcomes of a blood glucose monitoring protocol implemented by nurses and dietitians in a diabetes team to the previously established protocol of direct monitoring of GDM patients by a diabetologist. METHODS: Two groups of patients were formed: The first group was based on a traditional protocol (P1: 230 patients) with patients' blood glucose constantly checked by a diabetologist. In the second structured group (P2: 220 patients) patients were referred to a diabetologist only if they required insulin therapy. RESULTS: The number of medical visits (P2: 1.28 ± 0.70 vs P1: 3.27 ± 1.44; P < .001) and the percentage of patients with hypoglycemia (P2: 6.8% vs P1: 15.2%; P < .006) were found to be lower in group P2 than in group P1. In both groups, a direct relationship was found between a parental history of diabetes and the risk of GDM (odds ratio [OR]: P1 = 2.2 [1.17-4.12]; P2 = 2.5 [1.26-5.12]). In group P1, it was observed that hyperweight gain in patients who were already overweight before becoming pregnant significantly increased the risk of macrosomia (OR: 3.11 [1.39-25.7]), whereas this was not detected in patients in group P2. In group P2, a correlation was found between macrosomia and insulin therapy (OR: 0.066 vs 0.34). In group P1 and group P2, a correlation was observed between insulin therapy and a family history of diabetes (OR: 2.20 vs 2.27), and a body mass index of greater than 30 kg/m in group P2 (OR: 3.0 vs 1.47). CONCLUSIONS: The data we collected show that creating a structured protocol for GDM management reduces the number of medical visits required by patients without increasing the risk of hypoglycemia, macrosomia, or hyperweight gain during pregnancy.

NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

We identified biallelic mutations in NANS, the gene encoding the synthase for N-acetylneuraminic acid (NeuNAc; sialic acid), in nine individuals with infantile-onset severe developmental delay and skeletal dysplasia. Patient body fluids showed an elevation in N-acetyl-D-mannosamine levels, and patient-derived fibroblasts had reduced NANS activity and were unable to incorporate sialic acid precursors into sialylated glycoproteins. Knockdown of nansa in zebrafish embryos resulted in abnormal skeletal development, and exogenously added sialic acid partially rescued the skeletal phenotype. Thus, NANS-mediated synthesis of sialic acid is required for early brain development and skeletal growth. Normal sialylation of plasma proteins was observed in spite of NANS deficiency. Exploration of endogenous synthesis, nutritional absorption, and rescue pathways for sialic acid in different tissues and developmental phases is warranted to design therapeutic strategies to counteract NANS deficiency and to shed light on sialic acid metabolism and its implications for human nutrition.

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

BACKGROUND: Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. METHODS: Genomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intron-exon junctions. The putative causal and possible functional effect of each nucleotide variant identified was estimated by in silico prediction tools. RESULTS: We identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before. Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncated polypeptide. We also identified 3 indel, 7 missense and 3 splice site. CONCLUSIONS: This study emphasizes the relevance of mutational screening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification of a large spectrum of MLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiple congenital anomalies/mental retardation syndrome, design functional studies to understand the molecular mechanisms underlying this disease, establish genotype-phenotype correlations and improve clinical management.