Urology Consult: Association with Renal Trauma Imaging and Intervention.

OBJECTIVE: To describe rates of urology consultation following renal trauma and assess subsequent impact on imaging and intervention. Renal trauma may be initially managed by either trauma or urologic surgeons alone or collaboratively. Differences in management between the specialties are not well studied. METHODS: We conducted an IRB-approved retrospective review of patients at a Level I trauma center sustaining renal trauma between 2014 and 2021. Demographic, injury, radiologic, and intervention variables were extracted. Frequencies and medians were compared using chi-squared and Fischer's exact tests or Mann-Whitney U tests, respectively. Analyses were performed using STATA with P <.05 considered significant. RESULTS: From 2014 to 2021, 118 patients with median age 29 (IQR 22-41) sustained renal trauma. Urology was consulted in 18 (15.3%) cases. Demographic and injury characteristics were similar between the 2 groups. AAST renal injury grade was transcribed in the initial radiologic reports for 49 (41.5%) of patients. Those in the urology consult group were more likely to receive delayed contrast imaging during their admission (50.0% vs 17.0%, P <.01). Among those with high-grade injuries, those with urology consult were less likely to undergo nephrectomy (36.4% vs 78.8%, P = .02). CONCLUSION: We observed differences in imaging patterns between renal trauma patients who are managed primarily by trauma surgery versus urology. However, the impact of these differences in imaging remains to be elucidated. Among patients with high-grade renal trauma, urology consult was associated with decreased rate of nephrectomy, emphasizing the feasibility of renal salvage in a multidisciplinary trauma setting.

The Use of a Brief Measure to Assess Longitudinal Changes in Appearance Concerns for Youth Recovering From Burn Injuries.

Burns are among the most common injuries to children, and, although survival rates have improved, many burn survivors are left with scars and/or other visible differences, which may be associated with anxiety, depression, and/or low self-esteem. A better understanding of the prevalence and persistence of these problems in child and adolescent burn survivors might lead to an expanded paradigm of care and possibly to better outcomes. The present study provides longitudinal prevalence data for the Appearance Concerns (AC) subscale of the parent-reported Burn Outcomes Questionnaire (BOQ) for 5- to 18-year-old children and identifies patient characteristics associated with higher risk for appearance concerns. Subjects were 799 pediatric burn survivors who were assessed prospectively using the parent-reported BOQ5-18, which was administered soon after their discharge from acute care and again every 3 to 6 months for up to 4 years. Approximately 20% of all youth were reported to have appearance concerns over the first 2 years, after which the rate declined gradually, falling to around 10% after 3 years. This study showed that such concerns were prevalent and persistent years after burn injuries and suggested that larger burns, facial burns, and country of origin outside of the United States were all associated with higher scores on the AC subscale. These findings highlight the importance of assessing appearance concerns in the long-term care of young burn survivors and suggest that the BOQ5-18 AC subscale could be used to identify individuals with heightened appearance concerns and to measure their response to interventions.

N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV.

Mucolipidosis type IV (MLIV) is a lysosomal storage disease exhibiting progressive intellectual disability, motor impairment, and premature death. There is currently no cure or corrective treatment. The disease results from mutations in the gene encoding mucolipin-1, a transient receptor potential channel believed to play a key role in lysosomal calcium egress. Loss of mucolipin-1 and subsequent defects lead to a host of cellular aberrations, including accumulation of glycosphingolipids (GSLs) in neurons and other cell types, microgliosis and, as reported here, cerebellar Purkinje cell loss. Several studies have demonstrated that N-butyldeoxynojirimycin (NB-DNJ, also known as miglustat), an inhibitor of the enzyme glucosylceramide synthase (GCS), successfully delays the onset of motor deficits, improves longevity, and rescues some of the cerebellar abnormalities (e.g., Purkinje cell death) seen in another lysosomal disease known as Niemann-Pick type C (NPC). Given the similarities in pathology between MLIV and NPC, we examined whether miglustat would be efficacious in ameliorating disease progression in MLIV. Using a full mucolipin-1 knockout mouse (Mcoln1-/-), we found that early miglustat treatment delays the onset and progression of motor deficits, delays cerebellar Purkinje cell loss, and reduces cerebellar microgliosis characteristic of MLIV disease. Quantitative mass spectrometry analyses provided new data on the GSL profiles of murine MLIV brain tissue and showed that miglustat partially restored the wild type profile of white matter enriched lipids. Collectively, our findings indicate that early miglustat treatment delays the progression of clinically relevant pathology in an MLIV mouse model, and therefore supports consideration of miglustat as a therapeutic agent for MLIV disease in humans.

Headaches in multiple sclerosis: Cross-sectional study of a multiethnic population.

OBJECTIVES: Headaches in MS are common, but there is little data on the influence of race, comorbidities, MS disability and socioeconomic issues on headaches, especially migraine. We aimed at looking at prevalence and type of headache across a multiethnic MS population, and relationship between MS related clinical factors and migraine. PATIENTS AND METHODS: This is a cross-sectional study of 233 MS patients at two clinical sites, one at a county hospital, and the other a private academic center clinic. We collected demographic data, MS characteristics, and headache histories using validated survey instruments including Headache Impact Test (HIT-6) and Patient Health Questionnaire-9 (PHQ-9). The relationship between MS and migraine was examined using logistic regression. RESULTS: Majority of our patients were female (N=156, 67%), average age 44 years, with relapsing remitting MS (N=214, 92%). Our cohort was multi-ethnic predominantly Whites (N=106, 46%) and Hispanics (N=87, 37%). Public sector patients were significantly disadvantaged in socioeconomic measures (p<0.0001) and younger (40 vs 47 yrs, p<0.0001), compared to the private sector patients who had a higher MS burden. Headaches were common, regardless of sector (N=115, 49.4%), the most common type being migraine (N=83, 36%). Chronic migraine was more common among Hispanics (82%) than Whites (18.2%) (p=0.012). Headache impact on daily life, measured by HIT-6 score (p=0.006) and PHQ-9 score (p=0.004) were significantly higher in the public sector. After controlling for income and education, female gender (OR 2.59, 95% CIs 1.312-5.127) and ambulatory disability were found to be more likely to suffer from migraines. CONCLUSION: Headache, especially migraine is common among MS patients regardless of socio-economic status and treatment setting. Female MS patients with walking disability and longer disease duration tend to get migraines. Hispanic MS patients have a higher likelihood of suffering from chronic migraines. Thorough headache evaluation and headache treatment are essential to comprehensive MS care.

Retinal Dystrophy and Optic Nerve Pathology in the Mouse Model of Mucolipidosis IV.

Mucolipidosis IV is a debilitating developmental lysosomal storage disorder characterized by severe neuromotor retardation and progressive loss of vision, leading to blindness by the second decade of life. Mucolipidosis IV is caused by loss-of-function mutations in the MCOLN1 gene, which encodes the transient receptor potential channel protein mucolipin-1. Ophthalmic pathology in patients includes corneal haze and progressive retinal and optic nerve atrophy. Herein, we report ocular pathology in Mcoln1(-/-) mouse, a good phenotypic model of the disease. Early, but non-progressive, thinning of the photoreceptor layer, reduced levels of rhodopsin, disrupted rod outer segments, and widespread accumulation of the typical storage inclusion bodies were the major histological findings in the Mcoln1(-/-) retina. Electroretinograms showed significantly decreased functional response (scotopic a- and b-wave amplitudes) in the Mcoln1(-/-) mice. At the ultrastructural level, we observed formation of axonal spheroids and decreased density of axons in the optic nerve of the aged (6-month-old) Mcoln1(-/-) mice, which indicates progressive axonal degeneration. Our data suggest that mucolipin-1 plays a role in postnatal development of photoreceptors and provides a set of outcome measures that can be used for ocular therapy development for mucolipidosis IV.

Impaired myelination and reduced brain ferric iron in the mouse model of mucolipidosis IV.

Mucolipidosis type IV (MLIV) is a lysosomal storage disease caused by mutations in the MCOLN1 gene, which encodes the lysosomal transient receptor potential ion channel mucolipin-1 (TRPML1). MLIV causes impaired motor and cognitive development, progressive loss of vision and gastric achlorhydria. How loss of TRPML1 leads to severe psychomotor retardation is currently unknown, and there is no therapy for MLIV. White matter abnormalities and a hypoplastic corpus callosum are the major hallmarks of MLIV brain pathology. Here, we report that loss of TRPML1 in mice results in developmental aberrations of brain myelination as a result of deficient maturation and loss of oligodendrocytes. Defective myelination is evident in Mcoln1(-/-) mice at postnatal day 10, an active stage of postnatal myelination in the mouse brain. Expression of mature oligodendrocyte markers is reduced in Mcoln1(-/-) mice at postnatal day 10 and remains lower throughout the course of the disease. We observed reduced Perls' staining in Mcoln1(-/-) brain, indicating lower levels of ferric iron. Total iron content in unperfused brain is not significantly different between Mcoln1(-/-) and wild-type littermate mice, suggesting that the observed maturation delay or loss of oligodendrocytes might be caused by impaired iron handling, rather than by global iron deficiency. Overall, these data emphasize a developmental rather than a degenerative disease course in MLIV, and suggest that there should be a stronger focus on oligodendrocyte maturation and survival to better understand MLIV pathogenesis and aid treatment development.