Phenotype and genotype frequency of β-thalassemia and sickle cell disease carriers in Halkidiki, Northern Greece

A decade of screening (years 2000 to 2010) for hemoglobinopathies in 3,931 patients was performed at the General Hospital of Poligiros, Halkidiki, Northern Greece. Among the patients examined, 10.8% heterozygotes for β-thalassemia (β-thal) were found, as well as 4.1% with sickle cell disease and 1.2% with double β-thal/Hb S [β6(A3)Glu→Val] heterozygosity. Iron deficiency was observed in 23.4%. The geographical distribution in the region revealed a substantial incidence of hemoglobinopathies even in mountainous areas. This pattern did not follow the typical distribution according to the malaria hypothesis, as incidence did not dovetail with swamp locations recorded in the past. The HBB gene mutations for 85 patients were also analyzed. Most prevalent in Halkidiki, Northern Greece, was the codon 39 (C>T) mutation (27.1%) followed by the IVS-I-110 (G>A) mutation (22.4%); this was in direct contrast to the current distribution of the same mutations seen in the rest of Greece (Greek National Genetic Database, GNGD). This frequency inversion was statistically significant, with the difference from the GNGD being 20.6% for the IVS-I-110 mutation (p <0.0005) and 7.6% for the codon 39 mutation (p = 0.0238). The history of Halkidiki, denoting a clear example of geographical isolation from the rest of the country, may possibly account for a potentially diverse genetical identity of the disease in this region.     

Inflammatory and oxidative stress biomarkers in allergic rhinitis: the effect of smoking

Background Accumulating evidence confirms the presence of pan‐airway inflammation in allergic rhinitis patients. Smoking is known to affect the asthmatic airway inflammation. However, no study has evaluated the impact of smoking on airway inflammation of allergic rhinitis patients. Objective The aim of the present study was to evaluate the impact of smoking on inflammatory and oxidative stress biomarkers in patients with seasonal allergic rhinitis, using non‐invasive methods for sample collection. Methods Forty patients with seasonal allergic rhinitis (20 smokers and 20 non‐smokers) and 30 healthy subjects (15 smokers and 15 non‐smokers) were recruited for the study during pollen season. All subjects were submitted to measurement of the fraction of exhaled NO (FeNO), exhaled breath condensate (EBC) collection, nasal lavage collection, pre‐ and post‐ bronchodilation spirometry and metacholine bronchial challenge testing. pH, leukotriene B₄ (LTB₄) and 8‐isoprostane were determined in EBC and nasal lavage samples. Results Patients with allergic rhinitis presented higher LTB₄ and 8‐isoprostane levels in nasal lavage (P<0.0001 for both comparisons), with no significant differences between smokers and non‐smokers. Patients with allergic rhinitis also presented higher LTB₄ levels and lower pH in EBC (P<0.001 and P=0.004, respectively), with prominent differences between smokers and non‐smokers (P<0.0001 and P=0.003, for LTB₄ and pH, respectively). A significant correlation between nasal lavage and EBC LTB₄ values was observed (r_s=0.313, P=0.048). Conclusions Patients with allergic rhinitis present increased LTB₄ and 8‐isoprostane in their nasal cavity, however, with no significant differences between smokers and non‐smokers. In contrast, smokers with allergic rhinitis present higher LTB₄ levels and lower pH in EBC, suggesting that these patients may be more susceptible to the deleterious effects of smoking, compared with non‐smokers.     

Clonal dissemination of mupirocin-resistant staphylococci in Greek hospitals

OBJECTIVES: To determine the rates of mupirocin resistance in staphylococci during a 4 year period (1999-2002) in Greece. MATERIALS: A total of 1200 Staphylococcus aureus and 2760 coagulase-negative staphylococci (CoNS), consecutively collected from four Greek hospitals located in different geographical areas, were tested for susceptibility to mupirocin using the Etest and a reference agar dilution method. RESULTS: Twenty-four S. aureus (2%) and 532 CoNS (19.2%) were found to be mupirocin-resistant during the study period. High-level mupirocin resistance was detected in 20 S. aureus (1.6%) and in 440 CoNS (15.9%), respectively. No variations in the rates of mupirocin-resistant S. aureus in relation to the year of collection were observed. In contrast, the rate of mupirocin-resistant CoNS increased dramatically from 9% in 1999, to 14% in 2000, 20% in 2001 and reached 33% in 2002. PFGE analysis revealed the presence of one main clone (A) among mupirocin-resistant S. aureus and two main clones (i and a) among Staphylococcus epidermidis isolates. CONCLUSIONS: In Greece, the rate of mupirocin-resistant S. aureus has remained low and steady since 1999. The high rate of mupirocin-resistant CoNS (33%) in 2002 was due mainly to clonal dissemination of epidemic hospital clones.     

The molecular heterogeneity of beta-thalassemia in Greece

β-thalassemia is the most predominant genetic defect in Greece. In this study, we investigated the heterogeneity and the frequency of β-thalassemia mutations among 3796 heterozygotes detected in the course of DNA based diagnoses. The diagnostic strategy included Denaturing Gradient Gel Electrophoresis (DGGE), Allele Specific Oligonucleotide Hybridization (ASO), GAP PCR, Restriction Enzyme (RE) analysis and direct sequencing and led to 100% identification of the underlying molecular lesion. Six out of 33 different β-globin defects identified accounted for more than 91.4% of the total β-thalassemia chromosomes in Greece. The β-globin gene mutations cd29 C→T, IVS-I-2 T→C, IVS-I-5 G→T, cd37 G→A and poly A Kurdish AATAAA→AATAAG are for the first time reported in Greece, whereas cd7 GAG→TAG is a new β⁰-thalassemia mutation detected in an adult man from Albania residing in Greece. Three DNA single nucleotide polymorphisms (IVS-I-85 T→C, IVS-I-91 C→T and IVS-I-108 T→C) were also revealed; among these, IVS-I-85 T→C and IVS-I-91 C→T are new and described for the first time worldwide.     

Performance of the 1CU accommodating intraocular lens in relation to capsulorhexis size

PURPOSE: To assess the correlation between continuous curvilinear capsulorhexis (CCC) size and visual outcomes in patients with an accommodating intraocular lens (IOL). SETTING: Heidelberg IOL and Refractive Surgery Research Group, Department of Ophthalmology, Ruprecht-Karls-University of Heidelberg, Heidelberg, Germany. METHODS: Nineteen eyes had phacoemulsification and implantation of a 1CU accommodating IOL (HumanOptics AG). Three months after surgery, the uncorrected and best corrected distance and near visual acuities and the distance corrected near visual acuity were measured. Retroillumination photographs were taken to assess CCC size and centration and the amount of overlap between the CCC and IOL optic. The photographs were analyzed using Evaluation of Posterior Capsule Opacification system software. RESULTS: The mean age of the patients was 53.5 years (range 30 to 73 years). The mean uncorrected distance acuity improved from 0.05 preoperatively to 0.70 at 3 months and the best corrected near acuity, from 0.30 to 0.94. The mean postoperative distance corrected near acuity was 0.5 (range 0.1 to 1.0), which improved to 0.9 with near correction. The mean CCC size (4.3 mm) and amount of CCC decentration (0.35 mm) did not correlate with visual outcomes. However, there was a correlation between the amount of CCC-optic overlap (mean 35%; range 16% to 55%) and distance corrected near acuity (r = 0.641, P = .003). Distance corrected near acuity was better with less overlapping; that is, with a larger CCC. CONCLUSIONS: A larger capsulorhexis with less CCC-optic overlapping gave better near visual outcomes. Results indicate that an overlap between 25% and 35%, which correlates with a CCC between 4.5 mm and 5.0 mm, provides the best capsule strength without compromising accommodation with the single-piece 1CU IOL.     

Contrast sensitivity in amblyopia: the fellow eye of untreated and successfully treated amblyopes.

PURPOSE: We sought to investigate contrast sensitivity on the fellow eyes of amblyopic and successfully treated amblyopic subjects. METHODS: Contrast sensitivity was tested monocularly on both eyes of 48 amblyopic patients (mean age, 11.51 years) and of 22 successfully treated amblyopic subjects (visual acuity 20/20 in each eye; mean age, 11.22 years). Inclusion criteria were visual acuity in the amblyopic eye 20/40 or better (mild amblyopia) and 20/20 or better in the fellow eye, steady fixation, no signs of congenital, latent or manifest/latent nystagmus on clinical examination. Twenty normal subjects (20 eyes) were used as age-matched controls. RESULTS: Contrast sensitivity functions from the fellow eye of the 48 amblyopic patients, even those who had never been treated with occlusion therapy before, were significantly decreased (P < 0.001) compared with control subjects. Both the previously amblyopic and the fellow eye of the 22 "cured" amblyopic subjects demonstrated significantly lower values (P < 0.001) compared with control patients. CONCLUSIONS: We suggest that the nonamblyopic, "normal" eye of amblyopic patients behaves abnormally when evaluated for contrast sensitivity functions. Neither the previously amblyopic nor the fellow eyes of successfully treated subjects were comparable with controls. Occlusion therapy may not be implicated for depressed contrast sensitivity of the fellow eye in amblyopia. The assessment of contrast sensitivity can provide important information on the visual function and the influence of occlusion therapy in amblyopia.     

Lung involvement in primary Sjögren's syndrome is mainly related to the small airway disease

OBJECTIVE—To evaluate lung involvement in patients with primary Sjögren''s syndrome.
METHODS—Sixty one consecutive, non-smoking patients, 58 women and three men, were evaluated clinically, physiologically, and radiologically. A bronchial and/or transbronchial biopsy was performed on 13 of the patients. Physiological data were compared with that of a control group of 53 healthy non-smoking subjects matched for age and sex.
RESULTS—In 41% of the patients the main symptom was dry cough. Physiological studies revealed that the patients presented significantly lower expiratory flow values (% pred) when compared with those of the control group: the forced expiratory volume in one second (FEV₁) (mean (SD)) was 96% (16) v 111% (13) (p<0.0001), the maximal expiratory flow at the 50% of the vital capacity (MEF₅₀) was 72% (24) v 103% (17) (p<0.0001), and the maximal expiratory flow at the 25% of the vital capacity (MEF₂₅) was 49% (25) v 98 % (20) (p<0.0001). No significant difference was noted for the carbon monoxide diffusion value (% pred), between patients and controls. Blood gases were evaluated in 44 patients: mild hypoxemia was observed, and the alveolo-arterial oxygen difference (P(A-a)O₂) correlated significantly with MEF₅₀ (r=0.35, p<0.01) and MEF₂₅ (r=0.33, p<0.01) values. Chest radiography showed mild, interstitial-like changes in 27 patients while slightly increased markings were present in 21. High resolution computed tomography of the lungs was performed in 32 patients (four with a normal chest radiograph, six with suspected interstitial pattern, 19 with apparent interstitial pattern, and three with hyperinflation) and revealed predominantly wall thickening at the segmental bronchi. All positive findings by computed tomography derived from the patients with abnormal chest radiographs. Transbronchial and/or endobronchial biopsy specimens in 10 of the 11 sufficient tissue samples revealed peribronchial and/or peribronchiolar mononuclear inflammation, while interstitial inflammation coexisted in two patients.
CONCLUSION—The airway epithelia seem to be the main target of the inflammatory lesion of the lung in patients with primary Sjögren''s syndrome. It seems to be common, subclinically leading to obstructive small airway physiological abnormalities.