Long-term follow-up of young denim sandblasters in Turkey.

BACKGROUND: Denim sandblasting-induced silicosis is a recently identified occupational disease. AIMS: In this study, we aimed to evaluate pulmonary and radiological changes in the long-term follow-up of former denim sandblasters. METHODS: Ninety former denim sandblasters were followed from 2007 to 2018. Chest X-rays were evaluated according to the International Labour Organization (ILO) classification. Baseline and final data were compared. Silicosis prevalence, radiological progression and pulmonary dysfunction were evaluated. RESULTS: All of the sandblasters were men. Their mean age was 34 ± 5 years, mean follow-up time was 9 ± 2 years (mean time since initial exposure: 17 ± 2 years) and mean duration of exposure was 34 ± 25 months. Rates of radiological progression and decline in pulmonary during follow-up were 63% and 39%, respectively. During follow-up, all patients were diagnosed with silicosis. All workers who were ILO category 0 at baseline (n = 26, 29%) progressed to higher categories. The number of patients in Category 2 doubled and the number of patients in Category 3 increased by 2.5-fold. Eleven patients developed new large opacities and the number of patients with category C opacity increased from 4 to 13. Exposure time was an independent determinant of radiological progression (OR: 1.0, P = 0.036) and decline in pulmonary function (OR: 1.3, P = 0.019). CONCLUSIONS: The prevalence of silicosis in denim sandblasters increases steadily even after exposure is discontinued. Radiological progression was observed in a higher proportion of workers than a decline in lung function. Duration of exposure was the major determinant of disease progression in our study.

Evaluation of lung densitometric and volumetric changes in silicosis patients using three-dimensional software for multidetector CT and the relationship with profusion scores.

AIM: To evaluate the density and volume changes in the lungs of silicosis patients and their relationship with the disease severity classification of the International Labor Organization (ILO). MATERIALS AND METHODS: The multidetector computed tomography (CT) images of 44 patients diagnosed with silicosis and 32 controls that underwent thoracic CT due to trauma were evaluated. Patients with silicosis were divided into three categories according to the ILO classification. Data related to the total lung volume, total lung mean density, lung opacity score, percentage of lung high opacity, and mean density in the lower and upper lobes were obtained using three-dimensional (3D) software. RESULTS: There was no significant difference between the total lung mean densities of the silicosis and control groups (p=0.213); however, a significant difference was observed between the two groups in terms of the total lung volume (p<0.0001). According to the ILO classification, there was a significant difference between the disease severity categories in relation to the percentage of lung high opacity (p=0.000005). A strong correlation was detected between disease severity and high opacity percentage (p<0.0001, r=0.804). According to the ILO classification, there was also a significant difference between disease severity categories in terms of the lung opacity score (p=0.000144), as well as a moderate correlation between disease severity and opacity score (p<0.0001, r=0.580). CONCLUSION: Total lung volume is a CT finding that shows variation in exposure to crystalline silica. The percentage of high opacity determined using multidetector CT is an effective parameter in evaluating disease severity.

Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report.

A 28-year-old woman underwent amniocentesis at 18 weeks' gestation upon detection of increased fetal nuchal fold and parietal cephalocele on the second trimester ultrasound examination. Prenatal microarray showed a de novo unbalanced translocation resulting in a gain in 6q and loss in 18p. A female infant was delivered at 38 weeks' gestation. At birth, cephalocele and webbed neck were noted as major dysmorphic features. The case presented here shows how a combination of different genetic studies is used to accurately elucidate a chromosomal anomaly in a prenatal setting.

Female workers' silicosis diagnosis delayed due to gender bias.

After excluding alternative explanations, a silicosis diagnosis is based on the combination of appropriate silica exposure history and compatible clinical, radiological and occasionally pathological findings. Not taking appropriate occupational history by a physician may cause a misdiagnosis or underdiagnosis of silicosis. Herein, we present a female worker in a small-scale sandblasting factory who worked as a controller. Her silicosis diagnosis was established 10 years after her first symptoms, and she underwent invasive procedures due to a lack of inquiry about her occupational history. Gender bias may be one of the reasons that her occupational history was not taken.

The relationship between frontal sinus morphology and skeletal maturation.

BACKGROUND: The aim of this study is to evaluate the relationship between frontal sinus morphology and hand-wrist bone maturation by using postero-anterior (PA) cephalometric radiographs. MATERIALS AND METHODS: The study sample consisted of 220 patients divided into 11 groups based on the hand-wrist radiographs. The right and left maximum height, width and area of the frontal sinus parameters were measured in PA cephalometric radiographs of 220 subjects aged 8-18 years. The hand-wrist skeletal maturation stages were evaluated on the hand-wrist radiographs using the method of Fishman. The Kendall tau-b values were analysed to evaluate the correlation between the hand-wrist skeletal maturation stages and the frontal sinus parameters. RESULTS: The right and left frontal sinus areas and widths were found to be larger in males than in females (p < 0.05). In males, a significant difference was observed in all frontal sinus parameters in different maturation stages (p < 0.001), while a statistically significant correlation was found in females between the left frontal sinus area, right frontal sinus height, right frontal sinus width and different maturation stages (p < 0.05). CONCLUSIONS: The relationship between frontal sinus dimensions obtained from PA cephalometric radiographs and hand-wrist maturation stages suggests that frontal sinuses can be used in determining growth and development.

Cochlear involvement in patients with ulcerative colitis.

OBJECTIVE: To investigate whether cochlear involvement is an extraintestinal manifestation in patients with ulcerative colitis. METHOD: Forty-four ulcerative colitis patients and 44 age-matched healthy subjects were included in the study. Pure tone and speech audiometry, and distortion product otoacoustic emission tests were performed on all participants. The audiometric test results were compared between groups and their relationship with disease activity was investigated. RESULTS: Pure tone threshold averages were significantly higher in ulcerative colitis patients compared to controls (p 0.05). CONCLUSION: Even though hearing thresholds may be within normal limits, decreased distortion product otoacoustic emission amplitude values indicate a cochlear involvement in ulcerative colitis patients.

The deletion 22q13 syndrome: a new case.

The deletion 22q13.3 syndrome (Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autisticlike with decreased perception of pain and habitual chewing or mouthing. The loss of 22q13.3 can result from simple deletion, translocation, ring chromosome formation and less common structural changes affecting the long arm of chromosome 22, specifically the region containing the SHANK3 gene. The present case was referred at the age of 8 months because of delayed psychomotor development, hypotonia and autistic features. Clinical examination showed a small forehead, long eyelashes, epicanthal folds and lowset ears, large and broad hands and feet with short terminal phalanges. He had no eye contact and could not sit without support.

CLINICAL REPORT OF A PATIENT WITH DE NOVO TRISOMY 12q23.1q24.33.

We report a patient with a rare de novo duplication of 12q23.1-12q24.33 region with a 32.7 Mb gain, having similar features seen in previously reported isolated cases of duplications of the 12q23q24 region, such as growth retardation, neuromotor retardation, corpus callosum agenesis, dysmorphic features such as, hypertelorism, epicanthus, flat nasal bridge, low-set small ears, down-turned corners of the mouth, micrognathia, cryptorchidism and limb anomalies such as pes plano valgus, prominent heels and overriding toes. Our patient has Noonan-like features, such as short stature, short neck, epicanthal folds, ptosis of eyelids, hypertelorism, pectus excavatum, widely spaced nipples and cryptorchidism. Duplication of PTPN11 gene has been postulated as a mechanism for the Noonan syndrome. Phenotypic features and the genes involved in this region are important to further delineate the 12q23q24 phenotype.

Prevalence of X-aneuploidies, X-structural abnormalities and 46,XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency.

Our objective was to identify the distribution of cytogenetic abnormalities of 175 Turkish women with primary amenorrhea (PA) or premature ovarian insufficiency (POI). A retrospective study was performed using medical records of 94 patients with PA and 81 patients with POI at the Genetics Department, Zeynep Kamil Women's and Children's Research and Training Hospital, Istanbul, Turkey. G-banded metaphase karyotype analysis were prepared and analyzed. Chromosomal abnormalities were present in 44 of 175 cases (25%). 15 were full blown or mosaic numerical X chromosome abnormalities (8.5%), 10 were full blown or mosaic X-chromosome structural anomalies (5.7%), one was X-autosome translocation (0.5%), 3 were autosomal anomalies (1.7%), 12 were XY karyotype (6.8%), one was 45,X/46,XY mosaic and 2 were full blown or mosaic structural anomalies of Y chromosome (1.7%). The prevalence of chromosomal abnormalities was 25% in this large series of Turkish women with primary amenorrhea or premature ovarian insufficiency, most cases involving X-aneuploidy or X-structural abnormalities or 46,XY karyotype. High prevalence of chromosomal abnormalities is associated with POI starting at an early age (average age: 26 years).

A patient with duplication (7)(p15.3p22.3) and deletion (7)(p22.3pter) characterized by array-CGH.

We report a patient with neurodevelopmental delay, hypotonia, congenital cardiac anomaly and dysmorphic features such as macrocephaly, a large anterior fontanel, prominent forehead, short neck, downslanted and short palpebral fissures, hypertelorism, wide nasal bridge, straight, thin nose with asymmetric narrow inverted nostrils, micrognathia, low-set dysplastic ears. 7p15.3-p22.3 duplication and a 7p22.3-pter deletion were characterized by array-CGH analysed after karyotyping and FISH studies. The patient's distinctive features are consistent with the phenotypic features of 7p duplication. The genes involved in these regions are discussed for their possible relation to our patient's phenotype.

Genomic damage in patients with type-2 diabetes mellitus.

DNA damage seems to play a role in the pathogenesis of type-2 diabetes mellitus (DM2) and its complications. Several in vitro assays have been used to measure the DNA damage. In the present study, we aimed to investigate the frequency of sister chromatid exchange (SCE) and micronuclei (MN) in DM2 patients compared with healthy controls. SCE and MN tests were carried out with the blood-cell cultures from 50 DM2 patients and 30 healthy, age- and sex-matched control subjects. The mean age of the DM2 patients was 58.12 +/- 13.39 years, with a mean duration of the diabetes of 5.40 +/- 4.32 years. The mean level of HbAlc of the DM2 patients was 8.93 +/- 2.56. Patients with DM2 showed a higher frequency of SCE compared with controls (7.11 +/- 1.14 and 4.96 +/- 0.92, p < 0.001). Furthermore, the SCE frequency was positively correlated with the plasma HbA1c level (p < 0.05), but there was no significant correlation between the duration of diabetes and SCE. On the other hand, our result showed a MN frequency significant increase in DM2 patients (3.45 +/- 1.01 per 1000 cells) relative to that of the control group (1.79 +/- 0.67 per 1000 cells) (p < 0.001), but there was no significant correlation between the duration of diabetes, HbA1c and MN. In conclusion, these results suggest that DM2 is a condition with genomic instability characterized by an increased level of SCE and MN. Hyperglycemia-induced oxidative stress may be the underlying factor of the increased SCE and MN frequency.

Effects of organic apricot on liver regeneration after partial hepatectomy in rats.

BACKGROUND: The present study investigated the effects of (sun-dried organic apricot/SDOA) supplementation in chow on liver regeneration after partial hepatectomy/(PH) in rats. METHOD: In this study, 28 female rats were randomized into four groups. On the 7th day of the study, group 1 underwent laparoscopic intervention while a PH was performed on the other three cohorts. On day 28, all rats were humanely killed. Blood and liver tissue samples were subjected to biochemical determinations, histological examinations, and measurement of tissue oxidative stress enzyme activity. RESULTS: Serum levels of alanine transaminase (ALT), alkaline phosphatase (ALP), and liver tissue glutathione (GSH) activities were affected by PH and/or SDOA consumption (P < .05). Moderately staining cell counts in group 4 were significantly different from the other three groups (P < .05). However, no significant differences were detected among all groups in regard to aspartate aminotransferase (AST) serum levels or liver tissue superoxide dismutase (SOD), malondialdehyde (MDA), catalase (CAT) or glutathione peroxidase (GSHpx) activities (P < .05). CONCLUSION: The 5% SDOA supplementation over a 21-day feeding period showed a beneficial effect on liver regeneration in rats, as reflects by Ki-67 finding although there was no change in ALT or ALP or in liver tissue GSH activity.

Evaluation of the effects of ozone therapy on Escherichia coli-induced cytitis in rat.

OBJECTIVES: The aim of the study was to investigate the effect of ozone on oxidative/nitrosative stress and bladder injury caused by Escherichia coli in rat bladder. METHODS: Twenty-one Wistar-Albino-type female rats included in the study were divided into three groups of equal number: (1) sham operation (control), (2) E. coli-only (EC), (3) EC + ozone. After ozone therapy for 3 days, urine and tissue samples were obtained for biochemical, microbiological, and histopathological analysis. RESULTS: Tissue malondialdehyde (MDA), myeloperoxidase (MPO), and nitric oxide (NO) level were increased, whereas superoxide dismutase (SOD) and glutathione peroxidase (GPx) activity was decreased in the EC group. MDA, MPO, and NO levels were decreased, whereas SOD, GPx activity was increased in the ozone-treated group. Also, there was no bacterial translocation in this group. CONCLUSION: The results of the present study suggest that ozone may be used as an agent to protect the bladder from oxidative/nitrosative stress occurring in cystitis.

Structural chromosomal abnormalities in patients with mental retardation and/or multiple congenital anomalies: a new series of 24 patients.

Chromosomal abnormalities are a major cause of mental retardation and/or multiple congenital anomalies (MCA/MR). Screening for these chromosomal imbalances has mainly been done by standard karyotyping. The objective of this study was to report standard chromosome analysis and FISH screening of a series of 24 patients with MCA/MR. Structural chromosomal abnormalities were detected in 24 alterations and included 5 deletions, 2 duplications, 6 unbalanced translocations, 3 inversions, 2 insertions, 3 derivative chromosomes, 2 marker chromosomes and 1 isochromosome. We confirm that a high percentage of MCA/MR cases hitherto considered idiopathic is caused by chromosomal imbalances. We conclude that patients with MCA/MR should be routinely karyotyped.

Prevalence of diabetes mellitus and glucose metabolism disorders in the first degree relatives of type 2 diabetic patients.

BACKGROUND AND OBJECTIVES: We designed this study to observe the DM prevalence, insulin resistance, beta cell reserve and the interaction of these parameters in the first degree relatives of Type 2 diabetic patients in Turkish population. METHODS: 125 subjects were included in the study. 25 subjects without the first degree diabetic relatives were selected as the control group; they were matched by age, BMI, socio-economical, cultural and environmental factors. (OGTT), (IVGTT), (GST), and (ITT), were performed on all subjects and controls. RESULTS: 12 (9.6 %) DM and 23 (18. 4 %) impaired glucose tolerance (IGT) cases of 125 subjects were diagnosed according to OGTT results. The mean BMI of diabetic subjects was significantly higher than of controls and subjects with normal glucose tolerance (p<0.05). When compared to the control group, the mean AUCinsulin levels were significantly lower in diabetic subjects (p<0.05). To observe the correlation between HOMAIR and KITT values, a statistically significant correlation was found (p<0.05, r: 0.222). There was a deficiency in the C-peptide response to glucagon stimulation in diabetic relatives (p<0.05, F: 4.59 One Way ANOVA). CONCLUSION: We demonstrated that the first degree relatives of Type 2 diabetic patients constitute a high risk group for DM, IGT and insulin resistance by using four different tests in Turkish population.The significant finding(s) of the study: We demonstrated a high prevalence of glucose metabolism disorders in the relatives of type 2 diabetic patients.This study adds our knowledge; insulin resistance and decreased beta cell reserve occur before diabetes mellitus begin in relatives (Tab. 5, Ref. 42).