RESUMO
BACKGROUND: The FOXG1 gene plays a vital role in mammalian brain differentiation and development. Intra- and intergenic mutations resulting in loss of function or altered expression of the FOXG1 gene cause FOXG1 syndrome. The hallmarks of this syndrome are severe developmental delay with absent verbal language, post-natal growth restriction, post-natal microcephaly, and a recognizable movement disorder characterized by chorea and dystonia. CASE PRESENTATION: Here we describe a case of a 7-year-old male patient found to have a de novo balanced translocation between chromosome 3 at band 3q14.1 and chromosome 14 at band 14q12 via G-banding chromosome and Fluorescence In Situ Hybridization (FISH) analyses. This rearrangement disrupts the proximity of FOXG1 to a previously described smallest region of deletion overlap (SRO), likely resulting in haploinsufficiency. CONCLUSIONS: This case adds to the growing body of literature implicating chromosomal structural variants in the manifestation of this disorder and highlights the vital role of cis-acting regulatory elements in the normal expression of this gene. Finally, we propose a protocol for reflex FISH analysis to improve diagnostic efficiency for patients with suspected FOXG1 syndrome.
RESUMO
INTRODUCTION: Self-inflicted burns are a rare cause of injury, accounting for only 1.0% of burns in the United States. While rare, the physical and psychosocial ramifications of these injuries are lasting. The goal of this study was to examine the etiologies, risk factors and outcomes of self-inflected burns in an urban setting. METHODS: Records of all patients presented to a regional burn center from July 2011 to June 2015 were reviewed. Those who sustained a self-inflected burn were identified and included in this study. Demographic data, psychiatric history, previous self-harm records, insurance status, injury circumstance, burn characteristic [location and total body surface area (TBSA)], need for excision and grafting, graft-take and duration of hospital stay and costs were reviewed. This group was then compared to a cohort of 166 patients with non-intentional burn during the same time frame matched for age and TBSA%. RESULTS: There were 34 patients with a mean (SD) age of 31 (15.2) who sustained a self-inflicted burn during the study period. The mean TBSA% was 2.8 (SD=5.1), with most injuries in the upper and lower extremities. Fifty three percent of the patients presented with altered mental status secondary to either psychiatric illness or intoxication. Twenty-four percent of incidents were claimed as suicide attempts and suicidal ideation was present in 47% of cases. Twenty-six percent of patients with a previous psychiatric diagnosis were not on a psychiatric medication prior to incident. There was record of previous self-harm in 26% of patients. When compared to control group of 166 patient with non-intentional burn, patients with self-inflicted burn had higher rates of substance abuse (35% vs. 13%, p<0.05), longer stay in the hospital (11.3 vs. 5.3 days, p<0.01), longer stay in the intensive care unit (1.8 vs. 0.2 days, p<0.01), and lower rates of insurance (15% vs. 42%, p<0.001). These patients also exhibited a higher need for excision and grafting (41% vs. 20%, p<0.01). CONCLUSIONS: Patients with self-inflected burn have a higher rate of previous self-harm behavior, psychiatric comorbidities and substance abuse. These patients are more likely to require surgical excision and grafting and expanded institutional resources compared to those with non-intentional burn with similar degree and size of burn. Increased counseling of at-risk populations may help to decrease this potentially preventable method of injury.
