"Cerebral Palsy" in a Patient With Arginase Deficiency.

Inborn errors of metabolism (IEMs) are thought to present in infancy with acute decompensation including feeding intolerance and vomiting, lethargy, and coma. Most practitioners assume that children will be diagnosed in their first months of life. However, certain IEMs present more insidiously, and occasionally children fail to receive newborn screening resulting in delayed diagnoses, as metabolic and genetic disorders are overlooked causes of cognitive and neurologic deficits. Although signs and symptoms may be present but subtle, careful and detailed history taking, particularly of a child's diet and neurologic medical history, in addition to certain physical examination findings may suggest a diagnosis that is later supported by laboratory and radiographic testing. We present the case of an 11-year-old girl who presented with a diagnosis of cerebral palsy, seizure disorder, and concerns of fatigue and increasing seizure frequency. During hospitalization, she was found to have hyperammonemia, and a diagnosis of arginase deficiency was made. More thorough review of her previous records may have raised suspicion for IEM earlier.

HIV and Syphilis Screening Among Adolescents Diagnosed With Pelvic Inflammatory Disease.

BACKGROUND AND OBJECTIVES: Women with pelvic inflammatory disease (PID) are at an increased risk for syphilis and HIV, but screening rates among adolescents have been understudied. Our objective is to measure the frequency of HIV and syphilis screening among adolescents who are diagnosed with PID and identify patient- and hospital-level characteristics associated with screening. METHODS: We performed a retrospective cohort study using the Pediatric Health Information System from 2010 to 2015. We included visits to the emergency department by female adolescents who were diagnosed with PID and determined the frequency of HIV and syphilis screening. We performed separate multivariable logistic regression analyses to identify factors associated with screening. RESULTS: Of the 10 698 patients who were diagnosed with PID, 22.0% (95% confidence interval [CI] 21.2%-22.8%) underwent HIV screening, and 27.7% (95% CI 26.9%-28.6%) underwent syphilis screening. Screening rates varied by hospital (HIV: 2.6%-60.4%; syphilis: 2.9%-62.2%). HIV screening was more likely to occur in younger (adjusted odds ratio [aOR] 1.2; 95% CI 1.0-1.3), non-Hispanic African American (aOR 1.4; 95% CI 1.2-1.7), non-privately insured (publicly insured [aOR 1.3; 95% CI 1.1-1.5], uninsured [aOR 1.6; 95% CI 1.2-2.0]), and admitted patients (aOR 7.0; 95% CI 5.1-9.4) at smaller hospitals (aOR 1.4; 95% CI 1.0-1.8). Syphilis screening was more likely to occur in younger (aOR 1.1; 95% CI 1.0-1.3), non-Hispanic African American (aOR 1.8; 95% CI 1.2-2.8), non-privately insured (publicly insured [aOR 1.4; 95% CI 1.2-1.6], uninsured [aOR 1.6; 95% CI 1.2-1.9]), and admitted patients (aOR 4.6; 95% CI 3.3-6.4). CONCLUSIONS: We found low rates of HIV and syphilis screening among adolescents who were diagnosed with PID, with wide variability across hospitals.

Use of Six-Minute Walk Test to Measure Functional Capacity After Liver Transplantation.

BACKGROUND: Functional impairment is common in people with chronic liver disease (CLD), and improvement is expected following liver transplantation (LT). The Six-Minute Walk Test (6MWT) is an objective measure of functional performance. OBJECTIVE: The aims of this study were: (1) to evaluate the feasibility of 6MWT performance after LT, (2) to compare post-LT 6MWT performance over time between patients with and without CLD, (3) to determine when post-LT 6MWT performance approaches expected values, and (4) to investigate predictors of poor 6MWT performance. METHODS: The 6MWT was performed by 162 consecutive ambulatory participants (50 healthy controls, 62 with CLD, 50 with LT). Sex, age, and body mass index were used to predict expected 6MWT performance. Chi-square testing, analysis of variance, and Pearson coefficients compared percentage of predicted 6-minute walk distance (%6MWD) across groups. Multivariable mixed models assessed predictors of improvement. RESULTS: The participants' mean age was 53.5 years (SD=13.0), 39.5% were female, and 39.1% were nonwhite. At 1-month post-LT, only 52% of all LT recipients met the inclusion criteria for 6MWT performance. Mean %6MWD values for female participants improved from 49.8 (SD=22.2) at 1 month post-LT to 90.6 (SD=12.8) at 1 year post-LT (P<.0001), which did not differ statistically from the CLD group (X̅=95.9, SD=15.6) or the control group (X̅=95.6, SD=18.0) (P=.58). However, at 1-year post-LT, mean %6MWD values for male participants (X̅=80.4, SD=19.5) remained worse than for both the CLD group (X̅=93.3, SD=13.7) and the control group (X̅=91.9, SD=14.3) (P=.03). Six-Minute Walk Test performance was directly correlated with the Medical Outcomes Study 36-Item Short-Form Health Survey (SF-36) physical component score (r=.51, P<.01) and was inversely correlated with nonalcoholic steatohepatitis (r=-.52, P<.01) and diabetes (r=-.48, P<.05). In multivariate analysis adjusted for age and sex, hepatitis C independently predicted 6MWT improvement (estimated ß=69.8, standard error=27.6, P=.01). LIMITATIONS: A significant proportion of patients evaluated for enrollment were excluded due to level of illness early after LT (n=99, 47.4%). Thus, sampling bias occurred in this study toward patients without significant postoperative complications. CONCLUSIONS: The 6MWT is a simple test of physical functioning but may be difficult to apply in LT recipients. The 6MWT performance improved following LT but was lower than expected, suggesting a low level of fitness up to 1 year following LT.