New developments in the treatment and management of phenylketonuria (PKU) as well as advances in molecular testing have emerged since the National Institutes of Health 2000 PKU Consensus Statement was released. An NIH State-of-the-Science Conference was convened in 2012 to address new findings, particularly the use of the medication sapropterin to treat some individuals with PKU, and to develop a research agenda. Prior to the 2012 conference, five working groups of experts and public members met over a 1-year period. The working groups addressed the following: long-term outcomes and management across the lifespan; PKU and pregnancy; diet control and management; pharmacologic interventions; and molecular testing, new technologies, and epidemiologic considerations. In a parallel and independent activity, an Evidence-based Practice Center supported by the Agency for Healthcare Research and Quality conducted a systematic review of adjuvant treatments for PKU; its conclusions were presented at the conference. The conference included the findings of the working groups, panel discussions from industry and international perspectives, and presentations on topics such as emerging treatments for PKU, transitioning to adult care, and the U.S. Food and Drug Administration regulatory perspective. Over 85 experts participated in the conference through information gathering and/or as presenters during the conference, and they reached several important conclusions. The most serious neurological impairments in PKU are preventable with current dietary treatment approaches. However, a variety of more subtle physical, cognitive, and behavioral consequences of even well-controlled PKU are now recognized. The best outcomes in maternal PKU occur when blood phenylalanine (Phe) concentrations are maintained between 120 and 360 μmol/L before and during pregnancy. The dietary management treatment goal for individuals with PKU is a blood Phe concentration between 120 and 360 μmol/L. The use of genotype information in the newborn period may yield valuable insights about the severity of the condition for infants diagnosed before maximal Phe levels are achieved. While emerging and established genotype-phenotype correlations may transform our understanding of PKU, establishing correlations with intellectual outcomes is more challenging. Regarding the use of sapropterin in PKU, there are significant gaps in predicting response to treatment; at least half of those with PKU will have either minimal or no response. A coordinated approach to PKU treatment improves long-term outcomes for those with PKU and facilitates the conduct of research to improve diagnosis and treatment. New drugs that are safe, efficacious, and impact a larger proportion of individuals with PKU are needed. However, it is imperative that treatment guidelines and the decision processes for determining access to treatments be tied to a solid evidence base with rigorous standards for robust and consistent data collection. The process that preceded the PKU State-of-the-Science Confe...

Background-Little is known about the effects of natural disasters on pregnancy outcomes. We studied mental health and birth outcomes among women exposed to Hurricane Katrina.

Background Few studies have specifically examined the relationship between periodontal disease and gestational diabetes mellitus (GDM). The objective of this study was to examine whether maternal periodontal disease is associated with GDM. Methods A case-control study was conducted of 53 pregnant women with GDM and 106 pregnant women without GDM at Woman’s Hospital, Baton Rouge, USA. The periodontal examinations were performed by a calibrated dentist who was blinded on the diabetic status of the pregnant women. Periodontitis was defined as the presence of any site with a probing depth (PD) ≥ 4 mm or a clinical attachment loss (CAL) ≥ 4 mm. The severity of periodontal disease was measured in quartiles of PD and CAL. Univariable analysis and multivariable logistic regression were used to examine the relationships between periodontal disease and GDM. Results The percentage of periodontitis was 77.4% in women with GDM and 57.5% in pregnant non-GDM women, with an odds ratio (OR) and 95% confidence interval (CI) of 2.5 (1.2–5.3). After adjusting for confounding variables of maternal age, parity, race, marital status, education, family income, smoking, alcohol consumption, systemic antibiotics in pregnancy, family history of diabetes, income, dental insurance coverage and body mass index, the adjusted OR (95% CI) was 2.6 (1.1–6.1). The adjusted ORs (95% CIs) of GDM comparing the highest-to-lowest quartiles of PD and CAL were 3.8 (1.0–14.0) and 4.5 (1.2–16.9). Conclusion This study supports the hypothesis of an association between periodontal disease and GDM.

Preeclampsia-eclampsia is still one of the leading causes of maternal and fetal morbidity and mortality. Despite active research for many years, the etiology of this disorder exclusive to human pregnancy is an enigma. Recent evidence suggests there may be several underlying causes or predispositions leading to the signs of hypertension, proteinuria, and edema, findings that allow us to make the diagnosis of the "syndrome" of preeclampsia. Despite improved prenatal care, severe preeclampsia and eclampsia still occur. Although understanding of the pathophysiology of these disorders has improved, treatment has not changed significantly in over 50 years. Although postponement of delivery in selected women with severe preeclampsia improves fetal outcome to a degree, this is not done without risk to the mother. In the United States, magnesium sulfate and hydralazine are the most commonly used medications for seizure prophylaxis and hypertension in the intrapartum period. The search for the underlying cause of this disorder and for a clinical marker to predict those women who will develop preeclampsia-eclampsia is ongoing, with its prevention the ultimate goal. This review begins with the clinical and pathophysiologic aspects of preeclampsia-eclampsia (Part 1). In Part 2, the experimental observations, the search for predictive factors, and the genetics of this disorder will be reviewed.

To investigate temperament in infants whose mothers were exposed to Hurricane Katrina and its aftermath, and to determine if high hurricane exposure is associated with difficult infant temperament. A prospective cohort study of women giving birth in New Orleans and Baton Rouge, LA (n=288) in 2006–2007 was conducted. Questionnaires and interviews assessed the mother’s experiences during the hurricane, living conditions, and psychological symptoms, two months and 12 months postpartum. Infant temperament characteristics were reported by the mother using the activity, adaptability, approach, intensity, and mood scales of the Early Infant and Toddler Temperament Questionnaires, and “difficult temperament” was defined as scoring in the top quartile for three or more of the scales. Logistic regression was used to examine the association between hurricane experience, mental health, and infant temperament. Serious experiences of the hurricane did not strongly increase the risk of difficult infant temperament (association with 3 or more serious experiences of the hurricane: adjusted odds ratio (aOR) 1.50, 95% confidence interval (CI) 0.63–3.58 at 2 months; 0.58, 0.15–2.28 at 12 months). Maternal mental health was associated with report of difficult infant temperament, with women more likely to report having a difficult infant temperament at one year if they had screened positive for PTSD (aOR 1.82, 95% confidence interval (CI) 0.61–5.41), depression, (aOR 3.16, 95% CI 1.22–8.20) or hostility (aOR 2.17, 95% CI 0.81–5.82) at 2 months. Large associations between maternal stress due to a natural disaster and infant temperament were not seen, but maternal mental health was associated with reporting difficult temperament. Further research is needed to determine the effects of maternal exposure to disasters on child temperament, but in order to help babies born in the aftermath of disaster, the focus may need to be on the mother’s mental health.