Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder.

A 5-year-old affected male had following phenotypes: autism, motor stereotypy, developmental regression, staring gaze, absent speech, and behavioral abnormality. The biochemical testing was normal and genetic testing identified a de novo pathogenic variant in ITSN1 gene in the proband. To our knowledge, this is the second report that elucidates the role of ITSN1 gene in an autosomal dominant neurodevelopmental disorder.

Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders.

The peroxisome is an essential eukaryotic organelle with diverse metabolic functions. Inherited peroxisomal disorders are associated with a wide spectrum of clinical outcomes and are broadly divided into two classes, those impacting peroxisome biogenesis (PBD) and those impacting specific peroxisomal factors. Prior studies have indicated a role for acylcarnitine testing in the diagnosis of some peroxisomal diseases through the detection of long chain dicarboxylic acylcarnitine abnormalities (C16-DC and C18-DC).

A 2-Year-Old Child with Alazami Syndrome with Newly Reported Findings of Immune Deficiency, Periventricular Nodular Heterotopia, and Stroke; Broadening the Phenotype of Alazami.

Alazami syndrome is a rare autosomal recessive neurodevelopmental disorder due to loss-of-function variants in the La ribonucleoprotein 7 gene. Children with Alazami syndrome are most often affected by a combination of primordial dwarfism, intellectual disability, and distinctive facial features. Previous cases have been primarily found in consanguineous families from the Middle East, Asia, and North Africa.

Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii).

A 6-yr-old female orangutan presented with a history of dark urine that turned brown upon standing since birth. Repeated routine urinalysis and urine culture were unremarkable. Urine organic acid analysis showed elevation in homogentisic acid consistent with alkaptonuria.

Exposure to gun violence among the population of Chicago community violence interventionists.

Gun violence is a leading cause of premature death and a driver of racial disparities in life expectancy in the United States. Community-based interventions are the foremost policy strategy for reducing gun violence without exacerbating harm associated with criminal justice approaches. However, little is known about the interventionist workforce.

An investigation of preceptors' perceptions of behavioral elements of "professionalism" among genetic counseling students.

Professionalism in health care is a loosely defined but increasingly studied concept. In genetic counseling, "professional development" expectations for entry-level genetic counselors are described in the "Practice-Based Competencies for Genetic Counselors," but the teaching and evaluation of "professionalism" among genetic counseling students is relatively unexplored. This study investigated program leaders' and clinical supervisors' perceptions of professionalism demonstrated by genetic counseling graduate students to learn about their associated strengths and lapses.

The experience of secondary traumatic stress among community violence interventionists in Chicago.

Community violence intervention strategies are rising in prominence as promising alternatives to traditional criminal justice responses to gun violence. Although such approaches may offer policy advantages and yield societal benefits, the costs to the practitioners of this work-owing to the intimate proximity to violence required by the job-have generally been overlooked. Using a first of its kind survey of nearly the entire population of community-based violence interventionists in Chicago, Illinois (United States), this study assesses the extent to which violence intervention workers experience Secondary Traumatic Stress (STS).

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.

Purpose: ZMYND8 encodes a multidomain protein that serves as a central interactive hub for coordinating critical roles in transcription regulation, chromatin remodeling, regulation of super-enhancers, DNA damage response and tumor suppression. We delineate a novel neurocognitive disorder caused by variants in the ZMYND8 gene.

Methods: An international collaboration, exome sequencing, molecular modeling, yeast two-hybrid assays, analysis of available transcriptomic data and a knockdown Drosophila model were used to characterize the ZMYND8 variants.

Psychological distress in response to physical activity restrictions in patients with non-syndromic thoracic aortic aneurysm/dissection.

Individuals diagnosed with thoracic aortic aneurysm/dissection (TAAD) are given activity restrictions in an attempt to mitigate serious health complications and sudden death. The psychological distress resulting from activity restrictions has been established for other diseases or patient populations; however, individuals with non-syndromic TAAD have not been previously evaluated. Seventy-nine participants completed a questionnaire utilizing the Patient Health Questionnaire (PHQ-9) and Generalized Anxiety Disorder (GAD-7) questionnaires, which assess levels of depression and anxiety respectively.

The Co-Occurrence of Illegal Gun Carrying and Gun Violence Exposure: Evidence for Practitioners From Young People Adjudicated for Serious Involvement in Crime.

We depicted the episodic nature of illegal gun carrying and tested its co-occurrence with gun violence victimization and exposure. We tested differences in differences using data from the Pathways to Desistance Study, originally collected between 2000 and 2010 (Phoenix, Arizona, and Philadelphia, Pennsylvania), on young people adjudicated for serious involvement in crime. We then tested the changes in gun victimization experiences attending gun-carrying changes for this sample.

Consideration of a metabolic disorder in the differential of mild developmental delay: A case of nonketotic hyperglycinemia revisited 36 years later.

We present a 53-year-old male with nonketotic hyperglycinemia (NKH) who presented in decompensated state to our university hospital several months prior to a primary diagnosis of multifocal pneumonia accompanied by reports of seizure-like activity, altered mental status, tremors, and fever. He was initially diagnosed with NKH in his preschool years, over 40 years previously, along with his younger sister. At that time, he had developmental and physical delays (which his sister also experienced).

Exploring parents' perceptions of the value of pediatric genetic counseling patient letters: A qualitative study presenting lessons learned.

Genetic counseling patient letters are a valuable supplement to genetic counseling practice. As the demand for genetic services increases, improving efficiency in daily tasks such as letter writing could improve genetic counselor workflow. Additionally, understanding the value recipients place on the content of these letters prior to creating efficiencies is essential toward ensuring that the utility of these letters is not lost.

Home testing for COVID-19: lessons from direct to consumer genetics.

On March 11th, 2020, COVID-19 was declared a worldwide pandemic. Publicly available testing has lagged, and tech entrepreneurs have quickly volunteered to fill this gap. Over the last two decades, genetic testing ordered outside of a clinic and without the involvement of a physician has been a way for the average individual to get genetic testing.

Case report of two children with auditory neuropathy spectrum disorder related to a neurofascin (NFASC) gene variant.

We present a case of two siblings born to nonconsanguineous parents that presented with hypotonia, respiratory insufficiency, and auditory neuropathy spectrum disorder (ANSD) correlated with NFASC (MIM: 609145) and the homozygous loss of function variant p.P924RfsX35. This appears to be the first two reported cases of NFASC correlated with ANSD.

An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease.

Terminal and interstitial deletions of the 5q35 region have been rarely reported in the literature. While a delineated phenotype has been suggested, the range of clinical presentations is unknown due to overall rarity. Cardiac features are of interest because haploinsufficiency of the NKX2-5 gene, located at 5q35.

Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.

Bathing suit ichthyosis (BSI) is a subtype of autosomal recessive congenital ichthyosis (ARCI) characterized by the development of large platelike scales mainly limited to the trunk. It is caused by temperature sensitive variants in transglutaminase 1, encoded by the gene TGM1. We describe a rare case of intrafamilial variation in phenotypic expressivity in two Burmese siblings with BSI that demonstrates the heterogeneity of the disorder within the same family and even in the same individual across time.

An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.

Coffin-Lowry syndrome (CLS) is a rare X-linked disorder characterized by moderate to severe intellectual disability, hypotonia, craniofacial features, tapering digits, short stature, and skeletal deformities. Using whole exome sequencing and high-resolution targeted comparative genomic hybridization array analysis, we identified a novel microduplication encompassing exons five through nine of RPS6KA3 in three full brothers. Each brother presented with intellectual disability and clinical and radiographic features consistent with CLS.

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.

Background: Exome/genome sequencing (ES/GS) have been recently used in neonatal and pediatric/cardiac intensive care units (NICU and PICU/CICU) to diagnose and care for acutely ill infants, but the effectiveness of targeted gene panels for these purposes remains unknown.

Methods: RapSeq, a newly developed panel targeting 4,503 disease-causing genes, was employed on selected patients in our NICU/PICU/CICU. Twenty trios were sequenced from October 2015 to March 2017.

Correction: The enhancement and suppression of immersion mode heterogeneous ice-nucleation by solutes.

[This corrects the article DOI: 10.1039/C7SC05421A.].

The enhancement and suppression of immersion mode heterogeneous ice-nucleation by solutes.

Heterogeneous nucleation of ice from aqueous solutions is an important yet poorly understood process in multiple fields, not least the atmospheric sciences where it impacts the formation and properties of clouds. In the atmosphere ice-nucleating particles are usually, if not always, mixed with soluble material. However, the impact of this soluble material on ice nucleation is poorly understood.

The study of atmospheric ice-nucleating particles via microfluidically generated droplets.

Ice-nucleating particles (INPs) play a significant role in the climate and hydrological cycle by triggering ice formation in supercooled clouds, thereby causing precipitation and affecting cloud lifetimes and their radiative properties. However, despite their importance, INP often comprise only 1 in 10-10 ambient particles, making it difficult to ascertain and predict their type, source, and concentration. The typical techniques for quantifying INP concentrations tend to be highly labour-intensive, suffer from poor time resolution, or are limited in sensitivity to low concentrations.

Water-Soluble Organic Composition of the Arctic Sea Surface Microlayer and Association with Ice Nucleation Ability.

Organic matter in the sea surface microlayer (SML) may be transferred to the atmosphere as sea spray and hence influence the composition and properties of marine aerosol. Recent work has demonstrated that the SML contains material capable of heterogeneously nucleating ice, but the nature of this material remains largely unknown. Water-soluble organic matter was extracted from SML and underlying seawater from the Arctic and analyzed using a combination of mass spectrometric approaches.