An autosomal dominant major gene confers predisposition to pulmonary tuberculosis in adults.

The molecular basis of genetic predisposition to pulmonary tuberculosis in adults remains largely elusive. Few candidate genes have consistently been implicated in tuberculosis susceptibility, and no conclusive linkage was found in two previous genome-wide screens. We report here a genome-wide linkage study in a total sample of 96 Moroccan multiplex families, including 227 siblings with microbiologically and radiologically proven pulmonary tuberculosis. A genome-wide scan conducted in half the sample (48 families) identified five regions providing suggestive evidence (logarithm of the odds [LOD] score >1.17; P < 0.01) for linkage. These regions were then fine-mapped in the total sample of 96 families. A single region of chromosome 8q12-q13 was significantly linked to tuberculosis (LOD score = 3.49; P = 3 x 10(-5)), indicating the presence of a major tuberculosis susceptibility gene. Linkage was stronger (LOD score = 3.94; P = 10(-5)) in the subsample of 39 families in which one parent was also affected by tuberculosis, whereas it was much lower (LOD score = 0.79) in the 57 remaining families without affected parents, supporting a dominant mode of inheritance of the major susceptibility locus. These results provide direct molecular evidence that human pulmonary tuberculosis has a strong genetic basis, and indicate that the genetic component involves at least one major locus with a dominant susceptibility allele.

Lung findings on thoracic high-resolution computed tomography in patients with ankylosing spondylitis. Correlations with disease duration, clinical findings and pulmonary function testing.

The aim of this study was to identify the spectrum of abnormalities revealed on high-resolution computerized tomography (HRCT) in patients with ankylosing spondylitis (AS), to compare findings with those of plain radiography and pulmonary function testing (PFT), and to look for correlations between lung involvement and AS severity. We prospectively studied 55 consecutive patients with a diagnosis of AS according to the modified New York criteria who attended our department over a period of 2 years. All patients had a detailed rheumatological examination and underwent plain chest radiography, chest HRCT and PFT. HRCT revealed abnormalities in 29 patients (52.7%), whereas plain chest radiography was abnormal in only 2. Abnormalities consisted of interstitial lung disease (ILD) ( n=4), apical fibrosis ( n=5), emphysema ( n=5), bronchiectasis ( n=4), ground glass attenuation ( n=2), and non-specific interstitial abnormalities ( n=26). Only apical fibrosis and bronchiectasis were statistically more frequent with increasing disease duration (significant trend chi(2)test, p=0.0029 and 0.028, respectively). PFT showed a restrictive process in 19 patients (34.5%). No correlation was noted between HRCT and PFT, nor with AS symptomatic and structural severity parameters. However, there was a statistically significant correlation between PFT and AS symptomatic and structural severity parameters. In conclusion,: this study confirms that the chest HRCT of patients with AS showed a great number of abnormalities undetectable by standard X-rays. The high incidence of lung abnormalities emphasizes the importance of excluding such a diagnosis in patients with AS even without respiratory symptoms.

[Sarcoidosis and ankylosing spondylitis. A case report and review of the literature]. / Sarcoïdose et spondylarthrite ankylosante. A propos d'un cas et revue de la littérature.

UNLABELLED: Ankylosing spondylitis is a very uncommon finding in patients with sarcoidosis. Thirteen cases have been reported in the literature. We report a new case. Observation. - A 40-year-old man had inflammatory low back pain since 1983 which formerly responded to nonsteroidal inflammatory drugs (NSAIDs). He developed dyspnea and skin rash in 1993. Physical exam found cervical and lumbar spine stiffness and violaceous and circular lesions on the forehead, nose and right cheek. Laboratory tests showed: ESR at 50 mm, increased serum angiotensin-1-converting enzyme, and negative HLA B27. X-rays showed sacroiliac ankylosis, cervical and lumbar syndesmophytes and cervical facet joint ankylosis. The plain chest x-ray showed an interstitial syndrome. Chest CT scan showed mediastinal adenopathies. Skin biopsy disclosed non-caseating epitheliod and giant-cell granuloma. Outcome was good with steroid therapy but back pain was only improved by NSAIDs. DISCUSSION: - This association raises a diagnostical problem because spine involvement in sarcoidosis can mimic ankylosing spondylitis. It also suggests the hypothesis of a pathophysiological link between the two diseases.

[Gastrointestinal bleeding revealing polycythemia. A case report]. / Hémorragie digestive révélatrice d'une polyglobulie. A propos d'une observation.

PURPOSE: Gastrointestinal bleeding, an uncommon complication of polycythemia can be the inaugural sign in exceptional cases. CASE REPORT: A 35-year-old patient was hospitalized for upper gastrointestinal bleeding. Physical examination and laboratory tests led to the diagnosis of polycythemia (Vaquez disease). Gastroscopy showed an hemorrhagic bulber ulcer. Outcome was favorable after chemotherapy and antinuclear treatment. CONCLUSION: Based on this observation and data in the literature we propose that this unusual presentation would suggest a relationship between polycythemia and ulcer disease.