First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

We present the first two reported unrelated patients with an isolated sedoheptulokinase (SHPK) deficiency. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis multiplex, multiple contractures, and dysmorphisms. Both patients had elevated excretion of erythritol and sedoheptulose, and each had a homozygous nonsense mutation in SHPK. SHPK is an enzyme that phosphorylates sedoheptulose to sedoheptulose-7-phosphate, which is an important intermediate of the pentose phosphate pathway. It is questionable whether SHPK deficiency is a causal factor for the clinical phenotypes of our patients. This study illustrates the necessity of extensive functional and clinical workup for interpreting a novel variant, including nonsense variants

Maternal smoking in pregnancy is associated with cholesterol development in the offspring: A 27-years follow-up study

Objective: To examine the associations of maternal smoking in pregnancy with development of cholesterol levels from childhood to adulthood. Methods: Total cholesterol, high-density lipoprotein (HDL) cholesterol and low-density lipoprotein (LDL) cholesterol were measured annually from 1975 to 1993 and in 2002 in 350 subjects aged 5-19 years at baseline who participate in a prospective cohort study. Pregnancy and birth data were obtained through questionnaires sent to the parents. Results: Children of mothers who smoked in pregnancy showed a higher annual change in total cholesterol of 0.12 mmol/l per 10 years (95% confidence interval (CI): 0, 0.23) compared to children whose mothers did not smoke in pregnancy. Larger effect estimates were found in children with moderate overweight (0.39 mmol/l per 10 years (95% CI: 0.14, 0.63). HDL-cholesterol and LDL-cholesterol showed tendencies towards a decrease and increase, respectively, in children of mothers who smoked in pregnancy compared to children whose mothers did not smoke in pregnancy. Adjustment for potential confounders did not materially change the effect estimates. Conclusion: This study suggests for the first time that maternal smoking in pregnancy is associated with an increased rise in total cholesterol levels and a tendency towards an adverse lipoprotein profile in the offspring. (C) 2007 Elsevier Ireland Ltd. All rights reserved

Effects of Systematic Screening and Detection of Child Abuse in Emergency Departments

OBJECTIVE: Although systematic screening for child abuse of children presenting at emergency departments might increase the detection rate, studies to support this are scarce. This study investigates whether introducing screening, and training of emergency department nurses, increases the detection rate of child abuse. METHODS: In an intervention cohort study, children aged 0 to 18 years visiting the emergency departments of 7 hospitals between February 2008 and December 2009 were enrolled. We developed a screening checklist for child abuse (the "Escape Form") and training sessions for nurses; these were implemented by using an interrupted time-series design. Cases of suspected child abuse were determined by an expert panel using predefined criteria. The effect of the interventions on the screening rate for child abuse was calculated by interrupted time-series analyses and by the odds ratios for detection of child abuse in screened children. RESULTS: A total of 104 028 children aged 18 years or younger were included. The screening rate increased from 20% in February 2008 to 67% in December 2009. Significant trend changes were observed after training the nurses and after the legal requirement of screening by the Dutch Health Care Inspectorate in 2009. The detection rate in children screened for child abuse was 5 times higher than that in children not screened (0.5% vs 0.1%, P <.001). CONCLUSIONS: These results indicate that systematic screening for child abuse in emergency departments is effective in increasing the detection of suspected child abuse. Both a legal requirement and staff training are recommended to significantly increase the extent of screening. Pediatrics 2012; 130: 457-46