Patterns of Infectious Disease Associated With Injection Drug Use in Massachusetts.

BACKGROUND: Since 2014, multiple outbreaks of human immunodeficiency virus (HIV) among people who inject drugs have occurred across the United States along with hepatitis C virus (HCV), skin and soft tissue infections (SSTIs), and infective endocarditis (IE), creating a converging public health crisis. METHODS: We analyzed the temporal patterns of infectious disease and overdose using a hierarchical Bayesian distributed lag logistic regression model examining the probability that a given geographic area experienced at least 1 HIV case in a given month as a function of the counts/rates of overdose, HCV, SSTI, and IE and associated medical procedures at different lagged time periods. RESULTS: Current-month HIV is associated with increasing HCV cases, abscess incision and drainage, and SSTI cases, in distinct temporal patterns. For example, 1 additional HCV case occurring 5 and 7 months previously is associated with a 4% increase in the odds of observing at least 1 current-month HIV case in a given locale (odds ratios, 1.04 [90% credible interval {CrI}: 1.01-1.10] and 1.04 [90% CrI: 1.00-1.09]). No such associations were observed for echocardiograms, IE, or overdose. CONCLUSIONS: Lagged associations in other infections preceding rises in current-month HIV counts cannot be described as predictive of HIV outbreaks but may point toward newly discovered epidemics of injection drug use and associated clinical sequalae, prompting clinicians to screen patients more carefully for substance use disorder and associated infections.

Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts.

BACKGROUND: Massachusetts began newborn screening (NBS) for severe combined immunodeficiency (SCID) using measurement of T-cell receptor excision circles (TRECs) from dried blood spots. OBJECTIVE: We describe developments and outcomes from the first 10 years of this program (February 1, 2009, to January 31, 2019). METHODS: TREC values, diagnostic, and outcome data from all patients screened for SCID were evaluated. RESULTS: NBS of 720,038 infants prompted immunologic evaluation of 237 (0.03%). Of 237, 9 were diagnosed with SCID/leaky SCID (4% of referrals vs 0.001% general population). Another 7 were diagnosed with other combined immunodeficiencies, and 3 with athymia. SCID/leaky SCID incidence was approximately 1 in 80,000, whereas approximately 1 in 51,000 had severe T-cell lymphopenia for which definitive treatment was indicated. All patients with SCID/leaky SCID underwent hematopoietic cell transplant or gene therapy with 100% survival. One patient with athymia underwent successful thymus transplant. No known cases of SCID were missed. Compared with outcomes from the 10 years before SCID NBS, survival trended higher (9 of 9 vs 4 of 7), likely due to a lower rate of infection before treatment. CONCLUSIONS: Our data support a single NBS testing-and-referral algorithm for all gestational ages. Despite lower median TREC values in premature infants, the majority for all ages are well above the TREC cutoff and the algorithm, which selects urgent (undetectable TREC) and repeatedly abnormal TREC values, minimizes referral. We also found that low naïve T-cell percentage is associated with a higher risk of SCID/CID, demonstrating the utility of memory/naïve T-cell phenotyping as part of follow-up flow cytometry.

Claims-Based Diagnostic Patterns of Patients Evaluated for Lyme Disease and Given Extended Antibiotic Therapy.

BACKGROUND: A Lyme disease (LD) diagnosis can be far from straightforward, particularly if erythema migrans does not develop or is not noticed. Extended courses of antibiotics for LD are not recommended, but their use is increasing. We sought to elucidate the patient patterns toward a diagnosis of LD, hypothesizing that a subset of patients ultimately receiving extended courses antibiotics may be symptomatic for an extended period before the first LD diagnosis. METHODS: Claims submitted to a nationwide U.S. health insurance plan in 14 high-prevalence states were grouped into standardized diagnostic categories. The patterns of diagnostic categories over time were compared between patients evaluated for LD and given standard antibiotic therapy (PLDSA) and patients evaluated for LD and given extended antibiotic therapy (PLDEA) in 2011-2012. RESULTS: The incidence of PLDSA was 40.45 (N = 3207) and that of PLDEA was 7.57 (N = 600) per 100,000 insured over 2011-2012. 50.3% of PLDEA were diagnosed in the nonsummer months. Seven diagnostic categories were associated with PLDEA. From 180 days before the first LD diagnosis, the risks of having claims associated with back problems (odds ratio [OR], 2.1; confidence interval [95% CI], 1.4-2.9; p < 0.001) and connective tissue disease (OR, 1.6; 95% CI, 1.1-2.3; p < 0.01) complaints were higher among PLDEA. From 90 days before the diagnosis, malaise and fatigue (OR, 1.7; 95% CI, 1.1-2.6; p < 0.05), other nervous system disorders (OR, 2.0; 95% CI, 1.3-3.1; p < 0.01), and nontraumatic joint disorder (OR, 1.4; 95% CI, 1.0-2.0; p < 0.05) were more likely found among PLDEA than PLDSA. From 30 days before the diagnosis, the risk for mental health (OR 1.6; 95% CI, 1.1-2.0; p < 0.01) and headache (OR 1.5; 95% CI, 1.1-2.0; p < 0.05) among PLDEA was elevated. CONCLUSIONS: Among patients evaluated for LD and ultimately receiving an extended course of antibiotics for LD, 15.8% of them were symptomatic and seeking care for several months before their first LD diagnosis.

HIV and hepatitis C virus infection in the United States: whom and how to test.

In the United States, of the 1.1 million persons infected with human immunodeficiency virus (HIV) and the 2.7 million infected with hepatitis C virus (HCV), approximately 16% and 50%, respectively, are unaware of their infection. Highly effective treatments have turned both diseases into manageable conditions, and in the case of hepatitis C, a disease that can be cured. Early diagnosis is imperative so that infected persons can take measures to stay healthy, get into care, benefit from therapy, and reduce the risk of transmission. In this report, we review current recommendations provided by the Centers for Disease Control and Prevention (CDC) and the United States Preventive Services Task Force on whom to screen for HIV and HCV infections, and recommendations from the CDC, the Association of Public Health Laboratories, and the Clinical and Laboratory Standards Institute on how to test for these infections.

Accuracy of administrative diagnostic data for pathologically confirmed cases of Creutzfeldt-Jakob disease in Massachusetts, 2000-2008.

BACKGROUND: Creutzfeldt-Jakob disease (CJD) is a transmissible disorder that is monitored by public health authorities at the state and national levels in the United States. Little is known about the current accuracy and concurrence of CJD diagnoses across national and state sources of surveillance data. METHODS: Using multiple sources, including the National Prion Disease Pathology Surveillance Center (NPDPSC) registry, we sought to identify all deceased Massachusetts patients with pathologically diagnosed CJD between 2000 and 2008. Pathologically verified CJD cases were then matched to their respective records in the Massachusetts hospital discharge and death certificate datasets. Using these data, we also aimed to estimate the sensitivity and specificity of death certificate diagnoses. RESULTS: Death certificate and hospital discharge dataset diagnoses of CJD combined accounted for 80% (35 of 44) of pathologically confirmed cases. The estimated sensitivity and specificity for death certificate diagnoses alone were 71% (27 of 38) and 75% (9 of 12), respectively. CONCLUSIONS: Death certificate diagnoses were less sensitive for pathologically confirmed CJD than reported previously. Increasing reliance on autopsy over biopsy and an expanding spectrum of health care delivery may be responsible for this discrepancy. The findings reported here underscore the value of using multiple mechanisms in national CJD surveillance.

Diagnostic evaluation for Creutzfeldt-Jakob disease in Massachusetts, 1991-2001.

BACKGROUND: Surveillance for Creutzfeldt-Jakob disease (CJD) in the United States has become a focus of public health attention due to concerns about disease acquired through exposure to transmissible spongiform encephalopathy in other species. A definitive diagnosis requires neuropathologic examination, yet concerns about the invasiveness of procedures and infection control may be barriers to brain biopsy or autopsy in patients with suspected CJD. METHODS: We reviewed medical records of 50 of the 97 patients identified through the Massachusetts Department of Public Health CJD surveillance system for 1991-2001 and of an additional 21 patients in whom CJD was suspected but later ruled out. RESULTS: Of the 50 patients, brain biopsy was performed on 14 (28%), brain biopsy or autopsy was performed on 27 (54%), and brain biopsy and autopsy were performed on 4 (8%). Brain biopsy or autopsy was declined for an additional 7 patients (14%) by family or health care proxy. The proportion of patients on whom brain biopsy was performed was inversely correlated with age, with only 9 (21%) of the 43 patients >60 years old having brain tissue diagnosis. Brain biopsy was performed on patients in whom CJD was suspected but ruled out somewhat less often than it was for patients with confirmed CJD (4 [19%] of 21 patients vs. 7 [23%] of 30 patients, respectively; P=.71). CONCLUSION: The majority of patients with CJD-related death whose medical records were available had a brain biopsy or autopsy performed or requested (34 [68%] of 50 patients).