A Helping Hand Out of the River: Refugee Perspectives for Provider Engagement.

Purpose: A growing number of refugee groups are seeking care within the U.S. health care system for medical, psychological, and social needs.

Novel Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO.

Kabuki syndrome (KS) is a multisystem disorder estimated to occur in 1:32 000 newborns. Pathogenic mutations cause the majority but not all cases of KS in either or . KS can be suspected by phenotypic features, including infantile hypotonia, developmental delay, dysmorphic features, congenital heart defects, and others.

The relationship between performance on the medical genetics and genomics in-training and certifying examinations.

Purpose: The American Board of Medical Genetics and Genomics (ABMGG) certifying examinations (CEs) are designed to assess relevant basic knowledge, clinical knowledge, and diagnostic skills of board-eligible candidates in primary specialty areas. The ABMGG in-training examinations (ITEs) provide formative feedback regarding knowledge and learning over time and assess readiness to attempt board certification. This study addresses the validity of the ABMGG ITE by evaluating its relationship with performance on CE utilizing established psychometric approaches.

Comparative Analyses of Three Point-of-Care Urine Drug Test Devices' Performance Characteristics for Use in Ambulatory Clinic Settings.

Background: Urine drug testing (UDT) is a standard practice used for monitoring controlled and illicit substances in ambulatory care patients. Point-of-care (POC) UDTs are useful tools that allow for drug identification within minutes, providing rapid and objective diagnostic assistance for clinicians. The objective of this study was to evaluate the performance characteristics of 3 different POC UDT devices compared to reference methods.

Trauma-Informed Pediatric Primary Care: Facilitators and Challenges to the Implementation Process.

This article describes the process of integrating trauma-informed behavioral health practices into a pediatric primary care clinic serving low-income and minority families while facing barriers of financial, staffing, and time limitations common to many community healthcare clinics. By using an iterative approach to evaluate each step of the implementation process, the goal was to establish a feasible system in which primary care providers take the lead in addressing traumatic stress. This article describes (1) the process of implementing trauma-informed care into a pediatric primary care clinic, (2) the facilitators and challenges of implementation, and (3) the impact of this implementation process at patient, provider, and community levels.

Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.

KCNN2 encodes the small conductance calcium-activated potassium channel 2 (SK2). Rodent models with spontaneous Kcnn2 mutations show abnormal gait and locomotor activity, tremor and memory deficits, but human disorders related to KCNN2 variants are largely unknown. Using exome sequencing, we identified a de novo KCNN2 frameshift deletion in a patient with learning disabilities, cerebellar ataxia and white matter abnormalities on brain MRI.

Training the next generation of genomic medicine providers: trends in medical education and national assessment.

Purpose: To assess the utilization of genetics on the United States Medical Licensing Examination (USMLE®).

Methods: A team of clinical genetics educators performed an analysis of the representation of genetics content on a robust sample of recent Step 1, Step 2 Clinical Knowledge (CK), and Step 3 examination forms. The content of each question was mapped to curriculum recommendations from the peer reviewed Association of Professors of Human and Medical Genetics white paper, Medical School Core Curriculum in Genetics, and the USMLE Content Outline.

Microplastic fragment and fiber contamination of beach sediments from selected sites in Virginia and North Carolina, USA.

Microplastic particles (<5 mm) constitute a growing pollution problem within coastal environments. This study investigated the microplastic presence of estuarine and barrier island beaches in the states of Virginia and North Carolina, USA. Seventeen sediment cores were collected at four study sites and initially tested for microplastic presence by pyrolysis-gas chromatography-mass spectrometry.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

MN1 encodes a transcriptional co-regulator without homology to other proteins, previously implicated in acute myeloid leukaemia and development of the palate. Large deletions encompassing MN1 have been reported in individuals with variable neurodevelopmental anomalies and non-specific facial features. We identified a cluster of de novo truncating mutations in MN1 in a cohort of 23 individuals with strikingly similar dysmorphic facial features, especially midface hypoplasia, and intellectual disability with severe expressive language delay.

A Phenotypic Female Adolescent with Primary Amenorrhea and Dysmorphic Features.

We report on a case of a 14-year-old phenotypic female with a microdeletion at 13q31.1-q31.3, dysmorphic facial and limb features, and neurologic symptoms.

Contamination of Some Kratom Products with .

Objective: Recently, the US Food and Drug Administration investigated the contamination of kratom (Mitragyna speciosa) by , an event that caused an outbreak in 20 states after its consumption. Therefore, we investigated 16 different bags of kratom submitted for testing for potential contamination with and other microorganisms within the Public Health Laboratory for the state of South Carolina.

Materials And Methods: All kratom powders collected were analyzed for potential contamination with bacteria by an in-house modified Food and Drug Administration's Bacteriological Analytical Manual procedure.

Direct noninvasive H NMR analysis of stream water DOM: Insights into the effects of lyophilization compared with whole water.

NMR spectroscopy is widely used in the field of aquatic biogeochemistry to examine the chemical structure of dissolved organic matter (DOM). Most aquatic DOM analyzed by proton NMR ( H NMR) is concentrated mainly by freeze-drying prior to analysis to combat low concentrations, frequently <100 μM C, and eliminate interference from water. This study examines stream water with low dissolved organic carbon content by H NMR with a direct noninvasive analysis of whole water using a water-suppression technique.

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.

We previously reported a pathogenic de novo p.R342W mutation in the transcriptional corepressor CTBP1 in four independent patients with neurodevelopmental disabilities [1]. Here, we report the clinical phenotypes of seven additional individuals with the same recurrent de novo CTBP1 mutation.

Rapid Degradation of Oil in Mesocosm Simulations of Marine Oil Snow Events.

Following the Deepwater Horizon oil spill in the Gulf of Mexico, natural marine snow interacted with oil and dispersants forming marine oil snow (MOS) that sank from the water column to sediments. Mesocosm simulations demonstrate that Macondo surrogate oil incorporates into MOS and can be isolated, extracted, and analyzed via Fourier transform ion cyclotron resonance mass spectrometry (FTICR-MS). Up to 47% of the FTICR-MS signal from MOS extracts can be attributed to formulas also found in Macondo surrogate oil demonstrating extensive oil incorporation.

Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".

The author Diva D. De Leon was incorrectly listed as instead of Diva D. De Leó-Critchlow in the original version of this paper.

Ultra-high resolution mass spectrometry of physical speciation patterns of organic matter in fire-affected soils.

Fire is one of the most important modulating factors of the environment and the forest inducing chemical and biological changes on the most reactive soil component, the soil organic matter (SOM). Assuming the complex composition of the SOM, we used an ultra-high resolution mass spectrometry analysis technique to assess the chemical composition and fire-induced alterations in soil particle size fractions (coarse and fine) from a sandy soil in a Mediterranean oak forest at Doñana National Park (Southwest Spain). Electrospray ionization-Fourier transform ion cyclotron resonance mass spectrometry (ESI-FTICRMS) showed that the coarse fraction of soils not affected by fires consisted mainly of polyphenolic compounds consistent with little-transformed SOM and fresh biomass, whereas the fine fraction was enriched in protein and lipid like homologues suggesting microbially reworked SOM.

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

Purpose: To examine the impact of a targeted exome approach for the molecular diagnosis of patients nationwide with a wide range of ataxia-related phenotypes.

Methods: One hundred and seventy patients with ataxia of unknown etiology referred from clinics throughout the United States and Canada were studied using a targeted exome approach. Patients ranged in age from 2 to 88 years.

Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Purpose: Chromosomal microarray (CMA) is recommended as the first-tier test in evaluation of individuals with neurodevelopmental disability and congenital anomalies. CMA may not detect balanced cytogenomic abnormalities or uniparental disomy (UPD), and deletion/duplications and regions of homozygosity may require additional testing to clarify the mechanism and inform accurate counseling. We conducted an evidence review to synthesize data regarding the benefit of additional testing after CMA to inform a genetic diagnosis.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.

Purpose: Describe the clinical and molecular findings of patients with Kabuki syndrome (KS) who present with hypoglycemia due to congenital hyperinsulinism (HI), and assess the incidence of KS in patients with HI.

Methods: We documented the clinical features and molecular diagnoses of 9 infants with persistent HI and KS via a combination of sequencing and copy-number profiling methodologies. Subsequently, we retrospectively evaluated 100 infants with HI lacking a genetic diagnosis, for causative variants in KS genes.

The natural history of phytosterolemia: Observations on its homeostasis.

Background And Aims: Phytosterolemia is a rare genetic disease caused by mutation of the ABCG5/8 gene. Our aim was to elucidate the natural history and homeostasis of phytosterolemia.

Methods: We analyzed a Hutterite kindred consisting of 21 homozygotes with phytosterolemia assembled over a period of two decades, all of whom carried the ABCG8 S107X mutation and were treated with ezetimibe.

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.

Objectives: To assess the outcomes of newborn screening for 5 lysosomal storage disorders (LSDs) in the first cohort of infants tested in the state of Illinois.

Study Design: Tandem mass spectrometry was used to assay for the 5 LSD-associated enzymes in dried blood spot specimens obtained from 219 973 newborn samples sent to the Newborn Screening Laboratory of the Illinois Department of Public Health in Chicago.

Results: The total number of cases with a positive diagnosis and the incidence for each disorder were as follows: Fabry disease, n = 26 (1 in 8454, including the p.

Pathogenic Variant in , p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation.

encodes the -actin, and pathogenic variations in this gene have typically been associated with Baraitser-Winter cerebrofrontofacial syndrome, a congenital malformation syndrome characterized by short stature, craniofacial anomalies, and cerebral anomalies. Here, we describe the third case with the p.Arg183Trp variant in causing juvenile-onset dystonia.

Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel.

Background: Despite many publications about cerebral cavernous malformations (CCMs), controversy remains regarding diagnostic and management strategies.

Objective: To develop guidelines for CCM management.

Methods: The Angioma Alliance ( www.