REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and Structural Modeling of One Index Case.

The main objective of this prospective, multicenter study (REVEAL-CP) was to test children with cerebral palsy-like signs and symptoms for raised 3--methyldopa (3-OMD) blood levels, a biomarker for aromatic L-amino acid decarboxylase deficiency (AADCd). A secondary objective was to characterize the molecular basis for the defective aromatic L-amino acid decarboxylase (AADC) gene product. Patients were identified in pediatric secondary and tertiary care hospitals through database searches and personal communication.

Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study.

Background And Objective: Adult patients with early-treated phenylketonuria (AwET-PKU) may present some subtle neurocognitive deficits. The aim of the study was to investigate 1) neurocognitive functions in a large group of AwET-PKU 2) the influence of plasma phenylalanine (Phe).

Methods: Participants: 187 AwET-PKU (classic PKU [cPKU] 81%, mild PKU [mPKU] 14%, and mild persistent hyperphenylalaninemia [MPH] 5%).

Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.

Objectives: Patients with inherited metabolic disorders (IMDs) may require emergency hospital care to prevent life-threatening situations such as metabolic decompensation. To date, over one thousand different rare IMDs have been identified, which means that healthcare professionals (HCPs) initiating emergency treatment may not be familiar with these conditions. The objective of this initiative was to provide HCPs with practical guidance for the acute management of children and adults with IMDs who need emergency care, regardless of the underlying reason.

Biomass smoke exposure and somatic growth among children: The RESPIRE and CRECER prospective cohort studies in rural Guatemala.

Background: Cooking-related biomass smoke is a major source of household air pollution (HAP) and an important health hazard. Prior studies identified associations between HAP exposure and childhood stunting; less is known for underweight and wasting. Few studies had personal HAP measurements.

Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.

Background: Classical infantile-onset Pompe disease (IOPD) is the most severe form of Pompe disease. Enzyme replacement therapy (ERT) has significantly increased survival but only a few studies have reported long-term outcomes.

Methods: We retrospectively analyzed the outcomes of classical IOPD patients diagnosed in France between 2004 and 2020.

ATG5 selectively engages virus-tethered BST2/tetherin in an LC3C-associated pathway.

Bone marrow stromal antigen 2 (BST2)/tetherin is a restriction factor that reduces HIV-1 dissemination by tethering virus at the cell surface. BST2 also acts as a sensor of HIV-1 budding, establishing a cellular antiviral state. The HIV-1 Vpu protein antagonizes BST2 antiviral functions via multiple mechanisms, including the subversion of an LC3C-associated pathway, a key cell intrinsic antimicrobial mechanism.

Facile Synthesis of Highly Stretchable, Tough, and Photodegradable Hydrogels.

Recently, highly stretchable and tough hydrogels that are photodegradable on-demand have been reported. Unfortunately, the preparation procedure is complex due to the hydrophobic nature of the photocrosslinkers. Herein, a simple method is reported to prepare photodegradable double-network (DN) hydrogels that exhibit high stretchability, toughness, and biocompatibility.

Berlin statement on legacy and emerging contaminants in polar regions.

Polar regions should be given greater consideration with respect to the monitoring, risk assessment, and management of potentially harmful chemicals, consistent with requirements of the precautionary principle. Protecting the vulnerable polar environments requires (i) raising political and public awareness and (ii) restricting and preventing global emissions of harmful chemicals at their sources. The Berlin Statement is the outcome of an international workshop with representatives of the European Commission, the Arctic Council, the Antarctic Treaty Consultative Meeting, the Stockholm Convention on Persistent Organic Pollutants (POPs), environmental specimen banks, and data centers, as well as scientists from various international research institutions.

A model for predicting reduction in mobile phosphorus of lake sediment by aluminum drinking water treatment residuals.

Drinking water treatment residual (DWTR) derived from flocculation and sedimentation of raw water using aluminum coagulants is a valuable environmental remediation byproduct capable of inactivating phosphorus (P). However, no generalizable model exists in the literature to describe reduction of releasable (mobile) P in lake sediment as a result of DWTR addition. The reduction of mobile P (sum of labile P and reductant soluble P) was investigated in over 100 sub-samples using five sediment samples from two lakes and three DWTRs from different water treatment plants.

Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.

Background: Betaine is an "alternate" methyl donor for homocysteine remethylation catalyzed by betaine homocysteine methyltransferase (BHMT), an enzyme mainly expressed in the liver and kidney. Betaine has been used for more than 30 years in pyridoxine non-responsive cystathionine beta-synthase (pnrCBS) and cobalamin C (cblC) deficiencies to lower the hyperhomocysteinemia, although little is known about the optimal therapeutic dosage and its pharmacokinetic in these patients.

Aims: We compared 2 betaine doses (100 mg/kg/day vs.

Biomass Smoke Exposure and Atopy among Young Children in the Western Highlands of Guatemala: A Prospective Cohort Study.

Women and children in rural regions of low-income countries are exposed to high levels of household air pollution (HAP) as they traditionally tend to household chores such as cooking with biomass fuels. Early life exposure to air pollution is associated with aeroallergen sensitization and developing allergic diseases at older ages. This prospective cohort study assigned HAP-reducing chimney stoves to 557 households in rural Guatemala at different ages of the study children.

Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach.

Objective: The objective of this study was to compare the quality of life (QoL) for parents of children with inborn errors of metabolism (IEMs) requiring a restricted diet with French population norms and investigate parental QoL determinants.

Study Design: This cross-sectional study included mothers and/or fathers of children < 18 years of age affected by IEMs requiring a restricted diet (except phenylketonuria) from January 2015 to December 2017. Parents' QoL was assessed using the World Health Organization Quality of Life BREF questionnaire and compared with age- and sex-matched reference values from the French general population.

Characterization of lipoproteins and associated lipidome in very preterm infants: a pilot study.

Background: Preterm birth is associated with higher risks of suboptimal neurodevelopment and cardiometabolic disease later in life. Altered maternal-fetal lipid supply could play a role in such risks. Our hypothesis was that very preterm infants born with very low birth weight (VLBW) have altered lipidome and apolipoprotein profiles, compared with term infants.

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.

Missense variants in RNA-binding proteins (RBPs) underlie a spectrum of disease phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy. Here, we present ten independent families with a severe, progressive muscular dystrophy, reminiscent of oculopharyngeal muscular dystrophy (OPMD) but of much earlier onset, caused by heterozygous frameshift variants in the RBP hnRNPA2/B1. All disease-causing frameshift mutations abolish the native stop codon and extend the reading frame, creating novel transcripts that escape nonsense-mediated decay and are translated to produce hnRNPA2/B1 protein with the same neomorphic C-terminal sequence.

Trauma-related but not PTSD-related increases in hair cortisol concentrations in military personnel.

Dysregulated hypothalamic-pituitary-adrenal (HPA) axis functioning has been associated with posttraumatic stress disorder (PTSD). The current literature is inconsistent regarding this association, possibly due to confounding influences. Hair cortisol concentrations (HCC) allow for retrospective assessment of cumulative HPA axis secretion over several weeks and are considered a trait-like marker of HPA axis activity.

Quality Improvement Project to Increase Postpartum Clinic Visits for Publicly Insured Women.

Objective: To increase the percentage of women who attend postpartum visits and decrease the number of days to the first postpartum visit by implementing a scheduling change.

Design: Quality improvement project.

Setting/local Problem: A small nurse practitioner maternity care clinic in an academic health center at which only 74% of the women who attended two or more prenatal visits attended postpartum clinic visits.

Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.

Objective: To investigate the determinants of quality of life (QoL) in children with inborn errors of metabolism with restricted diet (IEMRDs) using a single theory-based multidimensional model.

Study Design: In this multicenter cross-sectional study, data from children aged 8-17 years with IEMRDs (except phenylketonuria) and their parents were collected from January 2015 to December 2017. Measurements included a child's self-reported QoL, self-rated behavioral problems and anxiety, and parental anxiety.

Mentoring and Support for Underrepresented Nursing Faculty: An Integrative Research Review.

Background: Nursing faculty members may need several mentors to succeed in scholarly productivity, career development, work-life balance, and socialization in the academy. Underrepresented (UR) faculty report additional challenges to success.

Purpose: The aim of this study was to search the literature for best practices in mentoring UR faculty.

Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series.

Introduction: Although there has been increasing recognition of the occurrence of non-epileptic involuntary movements in developmental and epileptic encephalopathies (DEEs), the spectrum of dystonic presentations associated with these conditions remains poorly described. We sought to expand the catalogue of dystonia-predominant phenotypes in monogenic DEEs, building on the recently introduced concept of an epilepsy-movement disorder spectrum.

Methods: Cases were identified from a whole-exome-sequenced cohort of 45 pediatric index patients with complex dystonia (67% sequenced as parent-child trios).

Salivary Cortisol and Alpha-Amylase in Posttraumatic Stress Disorder and Their Potential Role in the Evaluation of Cognitive Behavioral Treatment Outcomes.

Alterations in HPA-axis and autonomic nervous system activity have been associated with posttraumatic stress disorder (PTSD) development and maintenance and are potentially associated with trauma-focused cognitive behavioral therapy (TF-CBT) outcomes. We examined the role of salivary cortisol (sCort) and alpha-amylase (sAA) in PTSD and TF-CBT outcomes in German Armed Forces service members (N = 100). Participants categorized as PTSD patients (n = 39), previously deployed healthy controls (n = 33), and nondeployed healthy controls (n = 28) provided diurnal profiles of sCort and sAA; PTSD patients provided samples before, immediately after, and 3 months after an internet-based TF-CBT intervention.