Faculty Bibliography

OBJECTIVE:To evaluate the effect of a forced disruption to Medicaid managed care plans and provider networks on health utilization and outcomes for children with persistent asthma. DATA SOURCES/METHODS:Medicaid managed care administrative claims data from 2013 to 2016, obtained from a southeastern state. STUDY DESIGN/METHODS:A difference-in-difference analysis compared patients' outpatient, inpatient, and emergency department (ED) utilization and receipt of recommended services before and after implementation of a statewide redistribution of patients among nine managed care plans. DATA COLLECTION/EXTRACTION METHODS/METHODS:Enrollment data for children with asthma were linked to the administrative claims. Children were included if they had a diagnosis of persistent asthma in 2013 and if they were enrolled continuously throughout 2014-2016. PRINCIPAL FINDINGS/RESULTS:Among the 28 537 children with asthma, 26% were forced to switch their managed care plan after the redistribution. Of these, 67% also switched their primary care provider (PCP). Relative to those who remained in their plan, disruption was associated with an additional 2.1 percentage-point decrease in the number of children who had an outpatient visit per quarter [95%CI -2.8, -1.3], from 71% to 66% (compared to plan stayers: 74% to 71%). Among children experiencing a change to their plan, there was overall a decrease in the proportion of children receiving an asthma-specific visit per quarter, but there was less of a decrease in children that also changed their PCP [1.6 percentage points, 95%CI 0.7, 2.5], from 9.7% to 8.3% (compared to those who did not switch their PCP: 12% to 8.6%). Indicators of asthma care quality and emergent care utilization were not significantly different between the two periods. CONCLUSIONS:While there was a decrease in the number of outpatient visits associated with forced disruption of Medicaid managed care plans for children with persistent asthma, there were no consistent associations with worse asthma quality performance or higher emergent health care utilization.

In early March 2020 an outbreak of coronavirus disease 2019 (COVID-19) in New York City exerted sudden and extreme pressures on emergency medical services and quickly changed public health policy and clinical guidance. Recognizing this, New York City Health + Hospitals established a clinician-staffed COVID-19 hotline for all New Yorkers. The hotline underwent three phases as the health crisis evolved. As of May 1, 2020, the hotline had received more than ninety thousand calls and was staffed by more than a thousand unique clinicians. Hotline clinicians provided callers with clinical assessment and guidance, registered them for home symptom monitoring, connected them to social services, and provided a source of up-to-date answers to COVID-19 questions. By connecting New Yorkers with hotline clinicians, regardless of their regular avenues of accessing care, the hotline aimed to ease the pressures on the city's overtaxed emergency medical services. Future consideration should be given to promoting easy access to clinician hotlines by disadvantaged communities early in a public health crisis and to evaluating the impact of clinician hotlines on clinical outcomes.

BACKGROUND:Medicaid managed care plans change provider networks frequently, yet there is no evidence about the performance of exiting providers relative to those that remain. OBJECTIVES:To investigate the association between provider cost and quality and network exit. DESIGN:Observational study with provider network directory data linked to administrative claims from managed care plans in Tennessee's Medicaid program during the period 2010-2016. PARTICIPANTS:1,966,022 recipients assigned to 9593 unique providers. MAIN MEASURES:Exposures were risk-adjusted total costs of care and nine measures from the Healthcare Effectiveness Data and Information Set (HEDIS) were used to construct a composite annual indicators of provider performance on quality. Outcome was provider exit from a Medicaid managed care plan. Differences in quality and cost between providers that exited and remained in managed care networks were estimated using a propensity score model to match exiting to nonexiting providers. KEY RESULTS:Over our study period, we found that 21% of participating providers exited at least one of the Medicaid managed care plans in Tennessee. As compared with providers that remained in networks, those that exited performed 3.8 percentage points [95% CI, 2.3, 5.3] worse on quality as measured by a composite of the nine HEDIS quality metrics. However, 22% of exiting providers performed above average in quality and cost and only 29% of exiting providers had lower than average quality scores and higher than average costs. Overall, exiting providers had lower aggregate costs in terms of the annual unadjusted cost of care per-member-month - $21.57 [95% CI, - $41.02, - $2.13], though difference in annual risk-adjusted cost per-member-month was nonsignificant. CONCLUSIONS:Providers exiting Medicaid managed care plans appear to have lower quality scores in the year prior to their exit than the providers who remain in network. Our study did not show that managed care plans disproportionately drop high-cost providers.

Graduate medical education (GME), the system to train graduates of medical schools in their chosen specialties, costs the government nearly $13 billion annually, yet there is little accountability in the system for addressing critical physician shortages in specific specialties and geographic areas. Medicare provides the bulk of GME funds, and the Medicare Prescription Drug, Improvement, and Modernization Act of 2003 redistributed nearly 3,000 residency positions among the nation's hospitals, largely in an effort to train more residents in primary care and in rural areas. However, when we analyzed the outcomes of this recent effort, we found that out of 304 hospitals receiving additional positions, only 12 were rural, and they received fewer than 3 percent of all positions redistributed. Although primary care training had net positive growth after redistribution, the relative growth of nonprimary care training was twice as large and diverted would-be primary care physicians to subspecialty training. Thus, the two legislative and regulatory priorities for the redistribution were not met. Future legislation should reevaluate the formulas that determine GME payments and potentially delink them from the hospital prospective payment system. Furthermore, better health care workforce data and analysis are needed to link GME payments to health care workforce needs.

BACKGROUND & AIMS/OBJECTIVE:Autosomal recessive polycystic kidney disease (ARPKD), the most common ciliopathy of childhood, is characterized by congenital hepatic fibrosis and progressive cystic degeneration of kidneys. We aimed to describe congenital hepatic fibrosis in patients with ARPKD, confirmed by detection of mutations in PKHD1. METHODS:Patients with ARPKD and congenital hepatic fibrosis were evaluated at the National Institutes of Health from 2003 to 2009. We analyzed clinical, molecular, and imaging data from 73 patients (age, 1-56 years; average, 12.7 ± 13.1 years) with kidney and liver involvement (based on clinical, imaging, or biopsy analyses) and mutations in PKHD1. RESULTS:Initial symptoms were liver related in 26% of patients, and others presented with kidney disease. One patient underwent liver and kidney transplantation, and 10 others received kidney transplants. Four presented with cholangitis and one with variceal bleeding. Sixty-nine percent of patients had enlarged left lobes on magnetic resonance imaging, 92% had increased liver echogenicity on ultrasonography, and 65% had splenomegaly. Splenomegaly started early in life; 60% of children younger than 5 years had enlarged spleens. Spleen volume had an inverse correlation with platelet count and prothrombin time but not with serum albumin level. Platelet count was the best predictor of spleen volume (area under the curve of 0.88905), and spleen length corrected for patient's height correlated inversely with platelet count (R(2) = 0.42, P < .0001). Spleen volume did not correlate with renal function or type of PKHD1 mutation. Twenty-two of 31 patients who underwent endoscopy were found to have varices. Five had variceal bleeding, and 2 had portosystemic shunts. Forty-percent had Caroli syndrome, and 30% had an isolated dilated common bile duct. CONCLUSIONS:Platelet count is the best predictor of the severity of portal hypertension, which has early onset but is underdiagnosed in patients with ARPKD. Seventy percent of patients with ARPKD have biliary abnormalities. Kidney and liver disease are independent, and variability in severity is not explainable by type of PKHD1 mutation; ClinicalTrials.gov number, NCT00068224.

OBJECTIVES/OBJECTIVE:Autosomal dominant (ADPKD) and recessive (ARPKD) polycystic kidney diseases are the most common hepatorenal fibrocystic diseases (ciliopathies). Characteristics of liver disease of these disorders are quite different. All of the patients with ARPKD have congenital hepatic fibrosis (CHF) often complicated by portal hypertension. In contrast, typical liver involvement in ADPKD is polycystic liver disease, although rare atypical cases with CHF are reported. Our goal was to describe the characteristics of CHF in ADPKD. PATIENTS AND METHODS/METHODS:As a part of an intramural study of the National Institutes of Health on ciliopathies (www.clinicaltrials.gov, trial NCT00068224), we evaluated 8 patients from 3 ADPKD families with CHF. We present their clinical, biochemical, imaging, and PKD1 and PKHD1 sequencing results. In addition, we tabulate the characteristics of 15 previously reported patients with ADPKD-CHF from 11 families. RESULTS:In all of the 19 patients with ADPKD-CHF (9 boys, 10 girls), portal hypertension was the main manifestation of CHF; hepatocelllular function was preserved and liver enzymes were largely normal. In all of the 14 families, CHF was not inherited vertically, that is the parents of the index cases had PKD but did not have CHF-suggesting modifier gene(s). Our 3 families had pathogenic mutations in PKD1; sequencing of the PKHD1 gene as a potential modifier did not reveal any mutations. CONCLUSIONS:Characteristics of CHF in ADPKD are similar to CHF in ARPKD. ADPKD-CHF is caused by PKD1 mutations, with probable contribution from modifying gene(s). Given that both boys and girls are affected, these modifier(s) are likely located on autosomal chromosome(s) and less likely X-linked.

Autosomal recessive polycystic kidney disease (ARPKD), characterized by progressive cystic degeneration of the kidneys and congenital hepatic fibrosis (CHF), is the most common childhood onset ciliopathy, with an estimated frequency of 1 in 20,000 births. It is caused by mutations in PKHD1. The carrier frequency for ARPKD in the general population is estimated at 1 in 70. Given the recessive inheritance pattern, individuals who are heterozygous for PKHD1 mutations are not expected to have clinical findings. We performed ultrasound (USG) evaluations on 110 parents from 64 independent ARPKD families and identified increased medullary echogenicity in 6 (5.5%) and multiple small liver cysts in 10 parents (9%). All ARPKD parents with these abnormal imaging findings were asymptomatic; kidney and liver function tests were unremarkable. Complete sequencing of PKHD1 in the 16 ARPKD parents with abnormal imaging confirmed the mutation transmitted to the proband, but did not reveal any other pathogenic variants. Our data suggest that carrier status for ARPKD is a predisposition to polycystic liver disease and renal involvement associated with increased medullary echogenicity on USG. Whether some of these individuals become symptomatic as they age remains to be determined.

OFD I is an X-linked dominant male-lethal ciliopathy characterized by prominent external features including oral clefts, hamartomas or cysts of the tongue, and digital anomalies. Although these external features are easy to recognize and often lead to diagnosis in early childhood, visceral findings in OFD I, especially the fibrocystic liver and pancreas disease, are under-recognized. In addition, while the occurrence of polycystic kidney disease (PKD) in OFD I is well known, few patients are evaluated and monitored for this complication. We report on two adult females diagnosed with OFD I in infancy, but not evaluated for visceral involvement. In adulthood, they were incidentally found to have severe hypertension and chronic renal insufficiency due to undiagnosed PKD. A pancreatic cystic lesion, also discovered incidentally, was thought to be malignant and led to consideration of major surgery. We present NIH evaluations, including documentation of OFD I mutations, extreme beading of the intrahepatic bile ducts, pancreatic cysts, and tabulate features of reported OFD I cases having hepatic, pancreatic, and renal cystic disease. Liver and pancreas are not routinely evaluated in OFD I patients. Increased awareness and lifelong monitoring of visceral complications, particularly involving the liver, pancreas, and kidney, are essential for timely and accurate treatment.

The cognitive mechanisms for the analysis of flavour information remain poorly understood. Patients with semantic dementia (SD) could potentially provide a window on these mechanisms; however, while abnormal eating behaviour and altered food preferences are common in SD, flavour processing has been little studied in this disorder. Here we undertook a detailed investigation of flavour processing in three patients at different stages of SD. One patient with a clinical syndrome of logopenic aphasia (LPA) was studied as a disease control, and six healthy control subjects also participated. Olfaction was assessed using the University of Pennsylvania Smell Identification Test and processing of flavours was assessed using a novel battery to assess flavour perception, flavour identification, and congruence and affective valence of flavour combinations. Patients with SD performed equivalently to healthy controls on the perceptual subtest, while their ability to identify flavours or to determine congruence of flavour combinations was impaired. Classification of flavours according to affective valence was comparable to healthy controls. In contrast, the patient with LPA exhibited a perceptual deficit with relatively preserved identification of flavours, but impaired ability to determine flavour congruence, which did not benefit from affective valence. Olfactory and flavour identification performance was correlated in both patients and controls. We propose that SD produces a true deficit of flavour knowledge (an associative agnosia), while other peri-Sylvian pathologies may lead to deficient flavour perception. Our findings are consistent with emerging evidence from healthy subjects for a cortical hierarchy for processing flavour information, instantiated in a brain network that includes the insula, anterior temporal lobes and orbitofrontal cortex. The findings suggest a potential mechanism for the development of food fads and other abnormal eating behaviours.

BACKGROUND AND OBJECTIVES/OBJECTIVE:Renal function and imaging findings have not been comprehensively and prospectively characterized in a broad age range of patients with molecularly confirmed autosomal recessive polycystic kidney disease (ARPKD). DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS/METHODS:Ninety potential ARPKD patients were examined at the National Institutes of Health Clinical Center. Seventy-three fulfilled clinical diagnostic criteria, had at least one PKHD1 mutation, and were prospectively evaluated using magnetic resonance imaging (MRI), high-resolution ultrasonography (HR-USG), and measures of glomerular and tubular function. RESULTS:Among 31 perinatally symptomatic patients, 25% required renal replacement therapy by age 11 years; among 42 patients who became symptomatic beyond 1 month (nonperinatal), 25% required kidney transplantation by age 32 years. Creatinine clearance (CrCl) for nonperinatal patients (103 +/- 54 ml/min/1.73 m(2)) was greater than for perinatal patients (62 +/- 33) (P = 0.002). Corticomedullary involvement on HR-USG was associated with a significantly worse mean CrCl (61 +/- 32) in comparison with medullary involvement only (131 +/- 46) (P < 0.0001). Among children with enlarged kidneys, volume correlated inversely with function, although with wide variability. Severity of PKHD1 mutations did not determine kidney size or function. In 35% of patients with medullary-only abnormalities, standard ultrasound was normal and the pathology was detectable with HR-USG. CONCLUSIONS:In ARPKD, perinatal presentation and corticomedullary involvement are associated with faster progression of kidney disease. Mild ARPKD is best detected by HR-USG. Considerable variability occurs that is not explained by the type of PKHD1 mutation.