The effect of polymorphisms at the CD14 promoter and the TLR4 gene on asthma phenotypes in Turkish children with asthma

BACKGROUND: Endotoxin, with its potential to enhance type 1 immunity, is a significant player in the hygiene hypothesis. The combined effects of the genetic variants of various molecules in the endotoxin response pathway on asthma related phenotypes are largely unknown. OBJECTIVE: To investigate the effects of the genetic variants of CD14 and TLR4 genes on asthma phenotypes in a large number of asthmatic children. METHODS: 613 asthmatic children were genotyped at the CD14-C159T, TLR4-A896G and TLR4-C1196T loci. IgE, eosinophil numbers and FEV1 were compared in 327 children who were not on any controller medications and were symptom free. Multivariate logistic regression was used to determine the factors associated with total IgE. RESULTS: Among children with atopic asthma, total IgE levels were significantly different among the three genotypes in the co-dominant model [CC: 435 kU/l (interquartile range: 146-820); CT: 361 (140-710); TT 204 (98-435), P = 0.035]. TT genotype was significantly and independently associated with lower IgE levels (OR: 0.5 95%; CI = 0.28-0.90, P = 0.021). Both TLR4-A896G and TLR4-C1196T polymorphisms were more frequent in the mild asthma group with atopy (P = 0.032, 0.018, respectively). The combined effects of the genetic variants in CD14 and TLR4 genes did not improve the observed associations. CONCLUSION: Our study demonstrates that the CD14-C159T promoter variant influences total IgE levels and also indicates that the T allele has a more profound effect on total IgE in children with atopic asthma. Polymorphisms in the TLR4 gene may be associated with milder forms of disease in atopic asthmatics in the population studied.     

Height improvement by L-thyroxinetreatment in subclinical hypothyroidism

BACKGROUND: Subclinical hypothyroidism(SH) is most commonly an early stage of hypothyroidism. Although the condition may resolve or remain unchanged, within a few years in some patients overt hypothyroidism develops, with low free T4 levels as well as a raised thyroid stimulating hormone (TSH) level. Patients with SH may have subtle hypothyroid symptoms with mild abnormalities of serum lipoproteins and cardiac functions. L-thyroxine in a dosage that maintains serum TSH levels within the normal range is the preferred therapy in these patients. Although short stature is a well-known clinical sign of overt hypo-thyroidism,the effect of SH in growth is not well established. The aim of the present study is to show the effect of treatment on height in these patients. METHODS: In the present study, 2067 patients who were admitted to the Endocrinology Department of SSK Ankara Children's Hospital, Ankara, Turkey, with the complaint of short stature were evaluated and 39 were diagnosed with SH by thyrotropin releasing hormone stimulation test. The anthropometric data of the patients who were subdivided into two groups (prepubertal and pubertal) were analyzed before and after 6-12 months of L-thyroxine treatment. Growth velocity (GV) and GV standard deviation score(GVSDS) of the groups before and after the treatment were statistically analyzed. RESULTS: Both groups showed significant increases in GV and GVSDS by L-thyroxine treatment. CONCLUSION: Patients with short stature have to be evaluated for SH in addition to other potential causes. L-thyroxine treatment in these patients provides significant improvement in height.     

Long-term survival in severe combined immune deficiency: the role of persistent maternal engraftment

Two siblings with severe combined immune deficiency, one with maternal engraftment and detectable immunologic functions who was alive at the age of 8 years are presented. Both patients had the same JAK3 gene mutation, suggesting that maternal engraftment may result in immune competence leading to long-term survival in patients with severe combined immune deficiency.     

Ventricular injury following cranial gunshot wounds: clinical study

Gunshot wounds to the head are usually fatal injuries, despite all medical and surgical interventions. Ventricular injury is a poor prognostic factor-for penetrating cranial gunshot wounds. Intraventricular hemorrhage and ventricular lacerations are the main components of such injuries. The incidence, management, and outcomes of cases of ventricular injury secondary to cranial gunshot wounds that were treated during a 9-year period at Gülhane Military Medical Academy were examined. The study group consisted of 67 consecutive patients who were admitted to the Department of Neurosurgery with the diagnosis of ventricular injury, with different penetration sites. The patients had been injured by either bullets or shrapnel. Surgical treatment was performed for all patients with ventricular injuries and 22 (32.8%) died. Ventricular injury in cranial gunshot wounds is a complex severe type of trauma that requires serious treatment. Early radiological diagnosis and accurate treatment frequently had lifesaving roles for these patients.     

Neopterin as a new biomarker for the evaluation of occupational exposure to silica

OBJECTIVES: Silica is one of the most documented workplace contaminants. Long-term occupational exposure to silica is associated with an increased risk for respiratory diseases such as silicosis, tuberculosis, chronic bronchitis, chronic obstructive pulmonary disease and lung cancer. Furthermore, a variety of immune-dysfunction-related diseases has been reported in silicotic individuals. Preliminary studies indicating enhanced levels of autoantibodies and several cytokines reflect an involvement of the immune system in the pathogenesis of silicosis and resulting complications. As an early and valuable biomarker of cellular immunity, neopterin is a low-molecular-mass compound belonging to the class of pteridines. It is produced by guanosine triphosphate via interferon-gamma, following the activation of T cells. The aim of the present study was to observe the alteration of neopterin in silica exposure, and also to show whether screening of neopterin levels may be of use for assessment of occupational exposure to silica. METHODS: In this study, serum and urinary neopterin levels, both in silica-exposed workers ( n=22) and healthy volunteers ( n=20), were investigated by ELISA, spectrophotometry and HPLC techniques. RESULTS: Serum neopterin levels of control and exposed groups were measured as 5.98+ or -0.44 and 7.86+ or -1.97 nmol/l, respectively ( P<0.05). Urinary neopterin levels were also increased in the exposed group: 97.60+ or -41.42 micromol/mol creatinine for controls and 165.59+/-78.20 micromol/mol creatinine for workers ( P<0.05). At the same time, the correlation between urinary neopterin levels, serum neopterin concentration and working years, smoking status, some complaints, and silica status in the working atmosphere were evaluated. CONCLUSIONS: Our findings suggest that the following up of neopterin levels may have diagnostic value in silica-related diseases such as silicosis. Moreover, its biological monitoring should be performed in workplaces for clinical diagnosis and prognosis.     

A Tc-99m HMPAO SPECT study of regional cerebral blood flow in drug-free schizophrenic patients with deficit and non-deficit syndrome

Twenty-nine patients with DSM-IV diagnoses of schizophrenia were categorized into deficit syndrome (n=14) and non-deficit syndrome (n=15) subgroups on the basis of the Schedule for the Deficit Syndrome. The patients, who had all been free of antipsychotic medication for at least 3 weeks, and 17 sex- and age-matched normal controls were studied with single-photon emission computed tomography with Tc-99m HMPAO. Age at onset, Brief Psychiatric Rating Scale (BPRS) total scores, BPRS positive symptom subscores and duration of illness were similar between the two schizophrenic subgroups. As expected, the deficit patients had more negative symptoms than the non-deficit patients. There were no statistically significant correlations between clinical parameters and regional cerebral blood flow (rCBF) values. The deficit syndrome subgroup showed diminished rCBF in the frontal regions bilaterally, right parietal regions and right superior temporal region compared with the control groups. Deficit patients showed significantly lower rCBF perfusion ratios in the right superior and inferior frontal cortex than did the non-deficit patients. No differences were detected between the controls and the non-deficit schizophrenic patients in terms of rCBF perfusion indices. The results of the present study confirm previous reports of different patterns of rCBF in deficit vs. non-deficit schizophrenic subgroups.     

Selective serotonin reuptake inhibitors combined with venlafaxine in depressed patients who had partial response to venlafaxine: four cases

One third of depressive patients show partial or no response to antidepressant treatment. With partial or nonresponders, treatment strategies are as follows: switching to another antidepressant, augmenting with other psychotropic agents, or combining antidepressants. There are no data in the literature about the positive effect of combining venlafaxine with selective serotonin reuptake inhibitors (SSRIs). In this report, the presented cases had been on at least two different classes of antidepressant medication (or combination of antidepressants) for an adequate time and dose. They showed only a partial response to high dose of venlafaxine but improved after the addition of an SSRI (sertraline, citalopram, or paroxetine) to venlafaxine. The combination treatment was well tolerated in all of the cases.     

Glomerular mesangial fibrillary deposits in a patient with diabetes mellitus

Various systemic or primary glomerular diseases can result in deposition of fibrillary material in the glomerular tuft and may cause an important diagnostic challenge for the pathologists. Biopsy findings of a patient with type 2 diabetes is presented here in which striking fibrillary structures were identified in the mesangium by ultrastructural examination. The distinction between diabetic fibrillosis and fibrillary glomerulonephritis accompanying diabetic nephropathy is discussed in the setting of a literature review.     

The relationship between obesity and health related quality of life of women in a Turkish city with a high prevalence of obesity

The purpose of this study was to demonstrate the relationship between body weight and HRQOL in a representative sample of nonpregnant women in reproductive age period. The data of this cross-sectional study was extracted from a survey: Manisa Demographic and Health Survey (MDHS) conducted in Manisa city in 2000. The study population of MDHS is a representative sample of 1602 reproductive (15-49) age women. World Health Organization Quality of Life Questionnaire abbreviated version (WHOQOL-BREF), which was composed of four domain factors (physical, psychological, social relations and the environment), was used to assess HRQOL. Each of four domains had a possible score ranged between 0 (poor HRQOL) and 20 (excellent HRQOL). The mean age of the women was 35.29+/- 8.19 years. Among them, 35.8 % had normal weight (BMI 18.5 to 24.9), 32.3 % were overweight (BMI 25.0 to 29.9) while 31.9 % were moderate and 3.4% were morbidly obese. After adjusting for age, level of education and co-morbid illnesses, subjects with a BMI higher than normal value, had significantly lower HRQOL scores, compared to normal-weight individuals on each of the domains, except for the environmental domain. Our results suggested that the body weight alone could negatively affect HRQOL. In other words, obesity not only increased the risk of morbidity and mortality, but also affected the perceived health and life quality negatively. In conclusion, in addition to age, socioeconomic status and co-morbid illnesses, body weight should also be controlled in studies examining HRQOL.