Aims-To estimate the prevalence of Usher syndrome in the city of Birmingham, and to establish a database of patients who have been classified into diVerent clinical subtypes essential for future gene mutation analysis. Methods-Symptomatic cases of Usher syndrome (US) resident in the city of Birmingham in June 1994 were ascertained through multiple sources. Ophthalmic and audiological reassessment together with examination of medical records and patient questionnaires allowed classification of three subtypes, US 1, US 2, and US 3. In addition, family pedigrees were examined and blood was taken from index patients for DNA extraction. Results-In the population aged over 15 years the prevalence was 6.2 per 100 000 population for all US subtypes. The prevalence for US 1 and US 2 was 5.3 per 100 000 population. This is greater than previously reported. In the age group 30-49 years the prevalence approached 1 in 10 000. Clinical classification found 33% US 1, 47% US 2, and 20% US 3. Conclusion-This higher prevalence rate and greater frequency of US 2 and US 3 may reflect a more complete ascertainment. (Br J Ophthalmol 1997;81:46-53) The Usher syndromes (US) are a heterogeneous group of autosomal recessive disorders characterised by congenital hearing loss associated with a progressive pigmentary retinopathy. This association was first described by von Graefe, 1 but it was Charles Usher who first emphasised its familial occurrence.
Among patients with culture-confirmed TBM, we observed rapid early mortality in patients with rifampin-resistant isolates, and an independent association between isoniazid-resistant isolates and death after 60 days of therapy. These findings support the continued evaluation of rapid diagnostic techniques and the empiric addition of second-line drugs for patients with clinically suspected drug-resistant TBM.
Key Points
Question
What proportion of patients with pulmonary tuberculosis have negative sputum culture results, and how do they present differently from patients with culture-positive pulmonary tuberculosis?
Findings
In our cross-sectional study of 796 patients without HIV infection who were diagnosed with pulmonary tuberculosis, sputum culture-negative pulmonary tuberculosis represented 15% of all adult patients with pulmonary tuberculosis in New York, New York. These patients had a significantly lower proportion of cough, weight loss, any symptom in general, and cavitation on imaging compared with patients with sputum culture-positive disease.
Meaning
Through awareness of these findings, the detection and treatment of this likely early disease could potentially be improved and the development of transmissible tuberculosis reduced.
Literature surrounding the burden of and factors associated with hepatitis B virus (HBV) and hepatitis C virus (HCV) infection in persons with tuberculosis (TB) disease remains limited and focused on populations outside the USA. Cross-matched New York City (NYC) TB and viral hepatitis surveillance data were used to estimate the proportion of NYC adults diagnosed with TB from 2000 to 2010 with a report of viral hepatitis infection and to describe the impact of viral hepatitis infection on TB treatment completion and death. For 9512 TB patients, HCV infection was reported in 4.2% and HBV infection in 3.7%; <1% of TB patients had both HCV and HBV infection. The proportion of TB patients with HCV infection to die before TB treatment completion was larger than in TB patients without a viral hepatitis report (21% vs. 9%); this association remained when stratified by HIV status. There was no significant difference in death before treatment completion for TB patients with HBV infection compared to TB patients without a viral hepatitis report when stratified by HIV status. These findings reinforce the importance of hepatitis testing and providing additional support to TB patients with viral hepatitis infection.
In 2004, identification of patients infected with the same Mycobacterium tuberculosis strain in New York, New York, USA, resulted in an outbreak investigation. The investigation involved data collection and analysis, establishing links between patients, and forming transmission hypotheses. Fifty-four geographically clustered cases were identified during 2003–2009. Initially, the M. tuberculosis strain was drug susceptible. However, in 2006, isoniazid resistance emerged, resulting in isoniazid-resistant M. tuberculosis among 17 (31%) patients. Compared with patients with drug-susceptible M. tuberculosis, a greater proportion of patients with isoniazid-resistant M. tuberculosis were US born and had a history of illegal drug use. No patients named one another as contacts. We used patient photographs to identify links between patients. Three links were associated with drug use among patients infected with isoniazid-resistant M. tuberculosis. The photographic method would have been more successful if used earlier in the investigation. Name-based contact investigation might not identify all contacts, particularly when illegal drug use is involved.
Contacts of persons infected with multidrug-resistant tuberculosis (MDR TB) have few prophylaxis options. Of 50 contacts of HIV- and MDR TB–positive persons who were treated with moxifloxacin, 30 completed treatment and 3 discontinued treatment because of gastrointestinal symptoms. Moxifloxacin was generally well-tolerated; further research of its efficacy against MDR TB is needed.
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