Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.

Multiple myeloma is the most common hematological malignancy in Gaucher disease type 1 (GD1). There is a lack of outcome data and consensus regarding screening of gammopathies. This study explores utility of screening in Porto Alegre, Brazil, and Cincinnati, Ohio. A retrospective analysis of clinical information and laboratory data from GD1 patients was performed. Over 19 years, 68 individuals with GD1 (31 males, 37 females) underwent screening, and 20 (29.4%) had abnormalities. Twelve (17.6%) had polyclonal gammopathy (mean age 24.2 years, p = .02), seven (10%) had monoclonal gammopathy of uncertain significance (MGUS; mean age 52.7 years, p = .009). One had multiple myeloma (age 61 years). Risk factors for MGUS included male gender (p = .05), p.N409S allele (p = .032). MGUS developed in six of 62 treated and two of four untreated individuals. Of those with MGUS receiving treatment, four were on enzyme replacement therapy (ERT) and one on substrate reduction therapy (SRT). Gammopathy normalized in 13 treated individuals (10 polyclonal, three MGUS) and remained abnormal in two treated individuals (two polyclonal, two MGUS). Gammopathy relapse was seen in one individual with MGUS and three with polyclonal gammopathy. This study describes screening for gammopathies and identifies risk factors in individuals with GD1.

Serum Cardiac Troponin I in the Evaluation of Nonaccidental Trauma.

OBJECTIVE: To determine if troponin I is more often elevated in children with suspected nonaccidental trauma (NAT) compared with uninjured children of similar age, and describe associations between troponin I elevation and NAT injuries. STUDY DESIGN: Prospective 2-group study of children less than 2 years of age presenting to the emergency department with nonaccidental abdominal, thoracic, or intracranial injuries, and similarly aged uninjured children. Primary outcome was serum troponin I (≥ 0.04 ng/mL) using frozen blood samples from the 2 groups. Secondary outcomes included descriptive analyses of age, injury characteristics, and clinical appearance. RESULTS: There were 129 subjects; 60 injured patients and 69 uninjured patients. Groups had similar age and sex. Troponin I was elevated in 38% of injured children compared with 17% of uninjured children (P = .008). No uninjured patient over 3 months of age had elevated troponin I. Abdominal trauma, acute rib fractures, or the child's ill-appearance in the emergency department were associated with having elevated troponin I. CONCLUSIONS: Troponin I is more often elevated in children with suspected NAT than uninjured children. Elevation of troponin I in children greater than 3 months of age with suspected NAT is concerning for trauma. Occult cardiac injury is more likely to occur in children with inflicted abdominal trauma, acute rib fractures, or ill appearance.