Epidemiological, clinical and laboratory features of brucellosis: a prospective evaluation of 120 adult patients.

This prospective study was carried out in the department of infectious diseases of Gaziantep University between January 1997 and December 1999 to evaluate the epidemiological, clinical and laboratory features of brucellosis in south-eastern Turkey. One hundred and twenty consecutive patients with active brucellosis were enrolled. The commonest way of transmission was ingestion of milk products from diseased animals. Brucella melitensis was isolated in the specimens of 31 (45.5%) of 68 patients. The commonest abnormalities on physical examination were fever (66.6%), hepatomegaly (63.3%) and splenomegaly (56.6%). Osteoarticular involvement was found in 34 patients (28.3%). Fifteen (12.5%) patients had ocular involvement. Hepatitis, orchiepididymitis, pulmonary involvement and meningitis were found in one (0.8%), four (6.8%), three (2.5%) and one (0.8) patient, respectively. The commonest haematological abnormalities were relative lymphomonocytosis (71.6%) and anaemia (36.6%). In conclusion, brucellosis continues to be a common health problem in communities where the consumption of unpasteurised dairy products is common. Since prevention is as important as early diagnosis in reducing the morbidity of brucellosis, we suggest that improving current health policies with additional educational programmes is essential.

Ocular complications associated with brucellosis in an endemic area.

PURPOSE: To report the ocular manifestations associated with brucellosis in an endemic area. METHODS: We prospectively evaluated 147 patients with the diagnosis of brucellosis between May 1996 to May 2000 and recorded the ocular and systemic findings. The diagnosis was based on clinical findings, positive serological and bacteriological tests (Brucella agglutination test: over 1/160 titer, blood culture). RESULTS: Thirty-eight patients (26.0%) with brucellosis had ocular complications: conjunctivitis in 26 (17.7%), anterior uveitis in six (4.1%), posterior uveitis in one (0.7%), dacryoadenitis in two (1.4%), episcleritis in three (2.1%). Three of the seven patients with uveitis had spondylitis associated with brucellosis. Osteoarticular complications in brucellosis were more frequent in the patients with ocular involvement though the difference was not statistically significant compared with patients without ocular involvement. CONCLUSIONS: Ocular manifestations are frequent in brucellosis so an ophthalmologic examination should be routinely performed in patients with brucellosis in endemic areas.

The impact of acute dynamic exercise on intraocular pressure: role of the beta 2-adrenergic receptor polymorphism.

Effects of mutations in the beta 2-adrenergic receptor (beta 2AR) gene on intraocular pressure (IOP), in response to acute dynamic exercise, were investigated in 19 healthy males (age 22.6 +/- 2.8 years). Intraocular pressures were measured pre- and post-exercise. Weight, height, body mass index, and maximal oxygen (VO2max) uptake were recorded and subjects were genotyped for Arg16Gly, Gln27Glu and Thr164Ile mutations of the beta 2AR gene. Post-exercise, reductions in mean IOP values were found in 16 subjects with the Gly16Gly and Arg16Gly genotypes, but these values remained low in the eight patients with the Gly16Gly genotype 3 h post-exercise, whereas they returned to baseline within 1 h in the eight subjects with the Arg16Gly genotype. beta 2AR stimulation during exercise could be an important regulator of IOP response and determining beta 2AR polymorphisms may improve understanding of pathogenesis and treatment selection in ophthalmic diseases, e.g. glaucoma.

Recurrent episcleritis associated with brucellosis.

PURPOSE: To document the clinical course and the treatment of episcleritis associated with brucellosis. METHODS: Three consecutive cases of patients with recurrent episcleritis associated with brucellosis were evaluated through clinical and laboratory data including serology (tube agglutination), blood culture, and synovial fluid culture. RESULTS: All the patients had ingested contaminated milk and/or fresh cheese. The diagnosis of brucellosis was confirmed by high antibody titer, positive blood culture, negative synovial fluid culture and unresponsive condition to the previous nonspecific therapy for episcleritis and reactive arthritis. The patients responded well to the therapy with doxycycline and rifampicin. CONCLUSION: We proposed that recurrent episcleritis had a co-occurence with reactive arthritis in the course of the brucellosis, and that it responded well to the antibrucellar antibiotics rather than to steroids. This also implies that brucellosis as a rule is an underlying triggering infection associated with reactive arthritis.

Brucella melitensis dacryoadenitis: a case report.

PURPOSE: To present a case of brucellosis-related unilateral dacryoadenitis. METHODS: A 16-year-old boy had unilateral lacrimal gland enlargement, shown by magnetic resonance imaging of the orbits. Clinical findings, tube agglutination, the culture of a lacrimal gland aspirate, and histopathological examination confirmed the diagnosis of brucellosis. RESULTS: Tube agglutination testing for brucellosis gave a titer of over 1/640. The aspirate from the lacrimal glands grew Brucella melitensis and histopathological findings were consistent with brucellosis. CONCLUSIONS: Dacryoadenitis may occur in the course of systemic brucellosis caused by Brucella melitensis.

A DIDMOAD syndrome family with juvenile glaucoma and myopia findings.

We present here two DIDMOAD syndrome cases (Diabetes Mellitus, Diabetes Insipidus, Optic Atrophy, Deafness) in a Turkish family. In the examination of the propositus who had consanguineous parents, diabetes mellitus, diabetes insipidus, optic atrophy, and deafness were observed in addition to myopia, juvenile glaucoma, posterior polar cataract, and dilatation of the urinary tract. Diabetes mellitus, diabetes inspidus, optic atrophy, deafness, myopia, and ventricular septal defect were observed in his elder brother. Juvenile onset diabetes mellitus, congenital glaucoma, deafness, and heart disease were the other remarkable findings observed in relatives to this family. Juvenile glaucoma, posterior polar cataract observed in our propositus, and myopia in both our DIDMOAD syndrome cases are the first ophthalmic manifestations described in the DIDMOAD syndrome.

The predictive value of auditory brainstem responses for diabetic retinopathy.

OBJECTIVE: The purpose was to find out whether there is a relationship between the central nervous system involvement and retinopathy in diabetes mellitus. STUDY DESIGN: In a multidisciplinary clinical study, diabetic patients with and without retinopathy were examined utilising auditory brainstem response (ABR) testing, and the results were interpreted from clinical and pathophysiological point of view. PATIENTS AND METHODS: Thirty-three diabetic patients with retinopathy (study group) and 20 diabetic patients without retinopathy (control group) were included. Audiometry and ABR testing were made. The results of both groups were compared for ABR parameters. RESULTS: Audimetric results of the study and control groups were similar. In the study group, ABR testing revealed prolonged absolute and interpeak latency of the waves. The difference was significant for I-III interval (P<0.01). The amplitudes of the waves were similar in both groups and wave V amplitude was significantly diminished in the study group. Abnormal waveforms were recorded by 40 and 12.5% in the study and control groups, respectively. CONCLUSION: Retinopathy is accompanied with lower brainstem disintegration. Microangiopathy is the possible mechanism that is involved in the occurrence of retinopathy and brainstem neuropathy. ABR can help diagnose retinopathy. Better understanding the role of ABR in diagnosis and early detection of retinopathy in diabetic patients needs further study.

Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome.

PURPOSE: The aim of this presentation is to report a rare association between interatrial aneurysm and Axenfeld-Rieger syndrome. METHODS: We present a 20-year-old girl with Axenfeld-Rieger syndrome, in whom the diagnosis was confirmed by the facial dysmorphic appearance, slit-lamp examination, applanation tonometer, gonioscopy, and cardiovascular examination. RESULTS: The patient had prominent Schwalbe's line in all quadrants, iris atrophy, and secondary glaucoma in both eyes. The echocardiogram revealed an atrial septal defect with interatrial aneurysm. CONCLUSION: This is the first case report of coexisting Axenfeld-Rieger syndrome and interatrial aneurysm. We would like to stress that aneurysm can be a potential occult source of cerebral embolism.

Population frequency, mutation linkage and analytical methodology for the Arg16Gly, Gln27Glu and Thr164Ile polymorphisms in the beta2-adrenergic receptor among Turks.

AIMS: Inherited polymorphisms of codons 16, 27, and 164 of the beta2-adrenergic receptor (B2AR) gene may result in significantly changed functions of this receptor. The aim of the present study was to investigate the frequencies of the main mutations of the B2AR gene in Turks. METHODS: A group of 104 unrelated Turkish subjects were analysed for the Arg16Gly, Gln27Glu, and Thr164Leu polymorphisms of B2AR by a newly designed polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. A 242-bp amplicon including the Arg16Gly and Gln27Glu polymorphisms was generated including an arbitrary restriction site, allowing the cleavage with Eco130I or Fnu4HI for analysis of the two polymorphic sites, respectively. For the amino acid polymorphism at codon 164 a 280-bp fragment was generated and digested by MnlI. RESULTS: The allelic frequencies of mutated Gly16, Glu27, and Ile164 alleles were found as 59.6%, 31.7%, and 0.5%, respectively. Although, the frequencies of the polymorphisms at codon 16 and 164 were found similar as in various Caucasian populations, the frequency of the Glu27 variant was found significantly lower than these populations. CONCLUSIONS: Obviously there are interethnic differences in functionally relevant B2AR variants which may have implications for drug treatment and disease susceptibility.

Whistling face (Freeman-Sheldon) syndrome in two siblings.

Two siblings with typical manifestations of whistling face (Freeman-Sheldon) syndrome (WFS) born to unaffected parents are presented. In Case 1, deep-set eyes, epicanthus, blepharophimosis, right lid ptosis, strabismus, anti mongoloid slant, small mouth, mask-like face, high-arched palate, nasal speech, dysphagia, kyphosis and minimal scoliosis were noted, while Case 2 displayed blepharophimosis, mask-like face, long philtrum, high-arched palate, scoliosis, bilateral post-axial polydactyly of the feet and pes varus. We corrected the blepharophimosis in Case 1 by bilateral canthotomy and canthoplasty. This syndrome is usually inherited as an autosomal dominant trait; however, some authors have reported an autosomal an autosomal recessive form of this syndrome similar to our cases. Nevertheless, this could be explained by genetic expression of the mutant gene.