GATA2 deficiency detected by newborn screening for SCID: A case report.

The early diagnosis and treatment of inborn errors of immunity (IEI) is crucial in reducing the morbidity and mortality due to these disorders. The institution of newborn screening (NBS) for the diagnosis of Severe Combined Immune Deficiency (SCID) has decreased the mortality of this disorder and led to the discovery of novel genetic defects that cause this disease. GATA2 deficiency is an autosomal dominant, pleiotropic disease with clinical manifestations that include bone marrow failure, monocyte and B cell deficiency, leukemia, pulmonary alveolar proteinosis and lymphedema. We present the case of an infant identified by newborn screening for SCID due to GATA2 deficiency.

Understanding Suicide in Our Community through the Lens of the Pediatric ICU: An Epidemiological Review (2011-2017) of One Midwestern City in the US.

Suicide frequency has tripled for some pediatric age groups over the last decade, of which, serious attempts result in pediatric intensive care unit (PICU) admissions. We paired clinical, aggregate geospatial, and temporal demographics to understand local community variables to determine if epidemiological patterns emerge that associate with risk for PICU admission. Data were extracted at an urban, high-volume, quaternary care facility from January 2011 to December 2017 via ICD 10 codes associated with suicide. Clinical, socioeconomic, geographical, and temporal variables were reviewed. In total, 1036 patients over the age of 9 were included, of which n = 161 were PICU admissions. Females represented higher proportions of all suicide-related hospital admissions (67.9%). Looking at race/ethnicity, PICU admissions were largely Caucasian (83.2%); Blacks and Hispanics had lower odds of PICU admissions (OR: 0.49; 0.17, respectively). PICU-admitted patients were older (16.0 vs. 15.5; p = 0.0001), with lower basal metabolic index (23.0 vs. 22.0; p = 0.0013), and presented in summer months (OR: 1.51, p = 0.044). Time-series decomposition showed seasonal peaks in June and August. Local regions outside the city limits identified higher numbers of PICU admissions. PICUs serve discrete geographical regions and are a source of information, when paired with clinical geospatial/seasonal analyses, highlighting clinical and societal risk factors associated with PICU admissions.