Underreporting of Lyme and Other Tick-Borne Diseases in Residents of a High-Incidence County, Minnesota, 2009.

Lyme disease (LD), anaplasmosis, babesiosis and other tick-borne diseases (TBDs) attributed to Ixodes ticks are thought to be widely underreported in the United States. To identify TBD cases diagnosed in 2009, but not reported to the Minnesota Department of Health (MDH), diagnostic and procedural billing codes suggestive of tick-borne diseases were used to select medical charts for retrospective review in medical facilities serving residents of a highly endemic county in Minnesota. Of 444 illness events, 352 (79%) were not reported.

Testing practices and volume of non-Lyme tickborne diseases in the United States.

Large commercial laboratories in the United States were surveyed regarding the number of specimens tested for eight tickborne diseases in 2008. Seven large commercial laboratories reported testing a total of 2,927,881 specimens nationally (including Lyme disease). Of these, 495,585 specimens (17%) were tested for tickborne diseases other than Lyme disease.

Lyme disease testing by large commercial laboratories in the United States.

Background: Laboratory testing is helpful when evaluating patients with suspected Lyme disease (LD). A 2-tiered antibody testing approach is recommended, but single-tier and nonvalidated tests are also used. We conducted a survey of large commercial laboratories in the United States to assess laboratory practices.

Tick-borne diseases in Minnesota: an update.

Tick-borne diseases endemic to Minnesota include Lyme disease, babesiosis, anaplasmosis/ehrlichiosis, Powassan virus illness and Rocky Mountain spotted fever. Physicians need to be aware of these diseases and be vigilant about testing for them when patients present with acute febrile illness or rash within one month of potential tick exposure. In addition, they need to educate patients about these diseases and encourage prevention measures, especially use of tick repellents.

Acute heart failure from lyme carditis.

Carditis can complicate Lyme disease in an estimated <5% of cases, but cardiogenic shock is rare. We report a case of severe biventricular heart failure as a manifestation of a Jarisch-Herxheimer reaction in a patient with early Lyme disease following treatment with ceftriaxone.

Transfusion-transmitted babesiosis in an immunocompromised patient: a case report and review.

Babesiosis is a tick- and transfusion-borne disease caused by intraerythrocytic Babesia parasites. In 2009, a 61-year-old Minnesota woman with chronic lymphocytic leukemia and a history of recent chemotherapy and numerous blood transfusions for gastrointestinal bleeding became febrile and anemic 12 days postsplenectomy. Babesia were visualized on blood smears, confirmed by polymerase chain reaction as B.

First collection records of Aedes japonicus in Minnesota.

Aedes japonicus was first identified in the eastern United States during 1998 and has since spread to locations west of the Mississippi River. This species was found in Minnesota for the first time during 2007 at a tire recycling facility in Scott County and was identified during 2008 at 43 locations in 4 additional Minnesota counties south and east of the initial finding. These records document the presence of Ae.

Dispelling the chronic Lyme disease myth.

Lyme disease is a tick-borne illness endemic to Minnesota that can have potentially severe complications. As the incidence of Lyme disease continues to increase, it is important for physicians in Minnesota to become familiar with its clinical aspects, including the concept of "chronic Lyme disease." Chronic Lyme disease is a misnomer that is often applied to patients with nonspecific presentations who may or may not have a history of infection with Borrelia burgdorferi, the agent that causes Lyme disease.

[From gene to disease; a progressive cochlear-vestibular dysfunction with onset in middle-age (DFNA9)].

DFNA9 is an autosomal dominant genetic inner-ear hearing impairment that starts to show itself in the 3rd and 4th decades of life. This hearing impairment may be of a different degree of severity in each ear. Progression of hearing loss is about 3 dB/year.

Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation.

Objectives: To perform genetic analysis and to analyze cochleovestibular impairment features in a newly identified Dutch family with nonsyndromic autosomal dominant hearing impairment (DFNA9).

Study Design: Genetic analysis was performed using microsatellite markers and single nucleotide polymorphisms. Audiometric data were collected and analyzed longitudinally.

Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers.

Objectives: To analyze cochleovestibular impairment features in P51S COCH mutation carriers (n = 22) in a new, large Dutch family and to compare the results to those obtained in previously identified similar mutation carriers (n = 52). To evaluate age-related features between progressive hearing and vestibular impairment of all mutation carriers (n = 74).

Study Design: Family study.

Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome.

We retrospectively analysed long-term serial audiometry data from patients with branchio-oto-renal (BOR) syndrome to show the features of progression and fluctuation in hearing impairment and relate the findings to age and magnetic resonance imaging (MRI) findings in the petrosal bones. Thirty-two clinically affected BOR patients from six Dutch families (A-F) were included. Audiograms were available in 24 cases, covering followup intervals of between 3 and 30 years, and suitable for individual statistical analysis in 16 cases: 14 cases also had MRI findings.

Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.

Objective: Despite the identification of mutations in the connexin 26 (GJB2) gene as the most common cause of recessive nonsyndromic hearing loss, the pattern of hearing impairment with these mutations remains inconsistent. Recently a deletion encompassing the GJB6 gene was identified and hypothesized to also contribute to hearing loss. We hereby describe the hearing impairment in Dutch patients with biallelic connexin 26 (GJB2) and GJB2+connexin 30 (GJB6) mutations.

A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment.

Objectives: To perform linkage analysis and to outline hearing loss characteristics in a family exhibiting a nonsyndromic, autosomal dominant type of progressive sensorineural hearing loss.

Design: Genetic analysis was performed using microsatellite markers. Audiometric data were collected and analyzed longitudinally.

The benign concentric annular macular dystrophy locus maps to 6p12.3-q16.

Purpose: To describe the clinical findings and to identify the genetic locus in a Dutch family with autosomal dominant benign concentric annular macular dystrophy (BCAMD).

Methods: All family members underwent ophthalmic examination. Linkage analysis of candidate retinal dystrophy loci and a whole genome scan were performed.

A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).

Linkage analysis in a multigenerational family with autosomal dominant hearing loss yielded a chromosomal localisation of the underlying genetic defect in the DFNA20/26 locus at 17q25-qter. The 6-cM critical region harboured the gamma-1-actin (ACTG1) gene, which was considered an attractive candidate gene because actins are important structural elements of the inner ear hair cells. In this study, a Thr278Ile mutation was identified in helix 9 of the modelled protein structure.

Cross-sectional analysis of hearing threshold in relation to age in a large family with cochleovestibular impairment thoroughly genotyped for DFNA9/COCH.

Hearing threshold was analyzed for each frequency in relation to age in 88 members of a large Dutch family with cochleovestibular impairment caused by a P51S mutation in the COCH gene within the DFNA9 locus (chromosome 14q12-13). The participants in this study were 34 mutation carriers and 54 relatives without the mutation (control subjects). A sigmoidal dose-response curve with a variable slope was used to fit the mutation carriers' threshold-on-age data.

Inner ear anomalies are frequent but nonobligatory features of the branchio-oto-renal syndrome.

Objective: To summarize the syndromic features and evaluate the presence of inner ear anomalies in 35 patients with branchio-oto-renal (BOR) syndrome from 6 families.

Design: Retrospective evaluation of magnetic resonance imaging of the temporal bones and clinical features in patients with BOR syndrome.

Setting: Tertiary referral center.

[From gene to disease: deafness and connexin 26].

Deafness is genetically heterogeneous, yet it is estimated that approximately half of the heritable cases of autosomal recessive deafness are caused by mutations in the gene coding for connexin 26. Connexin 26 is thought to have an essential role in the transport of potassium ions back to the endolymph of the inner ear after sound stimulation.

Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome.

Objective: To study the results of petrosal bone imaging and audiometric long-term follow-up of two patients with branchio-oto-renal (BOR) syndrome and relate them to the clinical features, including caloric responses.

Study Design: Longitudinal case study.

Setting: Tertiary referral center.

Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH.

Objective: To analyze the relationship between pure-tone hearing threshold and speech recognition performance in DFNA2/KCNQ4 and DFNA9/COCH, 2 types of high-frequency nonsyndromic hearing impairment.

Design: Case series with cross-sectional analysis of phoneme recognition scores related to age and hearing level.

Setting: University hospital.