New laboratory findings in Turkish patients with transient hypogammaglobulinemia of infancy

Transient hypogammaglobulinemia (THI) of infancy is a common primary immunodeficiency usually resolves by 3 years of age. In this study, clinical, immunological data and outcome of 101 retrospectively diagnosed THI patients were evaluated. Majority of them suffered from recurrent respiratory infections (70.3%). Initial IgG, IgM and IgA levels were 446.7±121.5, 67.5±32.8, and 25.6±16.8 mg/dl, respectively. Patients who had lower IgG levels on admission reached normal IgG levels earlier than others. Infants who were retarded to reach age-related normal levels for IgM and IgA were found to have higher CD3+CD8+ T cells on admission. During immunoglobulin abnormalities, mean lymphocyte subset percentages and absolute counts were normal. Mean percentage of CD19+CD27+ memory B cells was 3.4±1.4% which is not significantly different from healthy children. Most of the children had protective antibody responses to tetanus (87%) and Haemophilus influenzae type B (85.7%) vaccines. Patients with low anti-tetanus responses had higher initial natural killer (NK) cell percentages probably due to recurrent viral infections or relative dominance of innate responses. Follow-up of patients with initially high NK were found to have longer duration of deficiency hence these patients' recoveries were delayed. During follow-up, 91/101 (90.1%) children produced normali levels of IgG at the end of 29.2 ± 15.2 months. The results of this study indicate that some children will achieve normal levels of IgG within 30 months of age, and some will remain IgG subclass or IgA deficient. Determination of increased NK percentages in patients with non-protective vaccine response and normal percentages of memory B cells are noteworthy novel findings.     

Total oxidative/anti-oxidative status and relation to bone mineral density in osteoporosis

The aim of this study was to evaluate the total antioxidant status (TAS), total oxidative status (TOS) and oxidative stress index (OSI) in patients with postmenopausal osteoporosis. We also investigate the relation between bone mineral density and oxidative/antioxidative parameters. Thirty-nine patients with osteoporosis and 26 healthy controls were included in the study. Plasma TAS, TOS levels were determined by using a novel automated methods. Plasma TOS and OSI value were significantly higher, and plasma TAS level was lower in patients than in healthy controls (P < 0.001 for all). There was a significant negative correlation between OSI and BMD in lumbar and femoral neck region (r = −0.63, P < 0.001; r = 0.40, P = 0.018). The results of this study indicated that increased osteoclastic activity and decreased osteoblastic activity may be associated with an imbalance between oxidant and antioxidant status in postmenopausal osteoporosis. Therefore, supplementation of antioxidant-enriched diet to the therapy might shed light on the development of novel therapeutic strategies for osteoporosis.     

Serum IGF-1 and IGFBP-3 levels in healthy children between 0 and 6 years of age

Objective: Along with growth hormone (GH) levels, measurements of serum insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) are used in the diagnosis of GH deficiency and in monitoring the efficacy and safety of long-term GH treatment. The purpose of the present study was to establish reference values for serum IGF-1 and IGFBP-3 in healthy Turkish children less than 6 years of age.Methods: This study was designed as a multicenter project. Five hundred sixty-seven healthy children younger than 6 years of age from different geographical regions of Turkey, with weight and height values between the 10th and 90th percentiles according to the national standards were included in the study. In addition to anthropometric parameters, serum IGF-1 and IGFBP-3 levels were measured in all subjects.Results: Although not statistically significant, the serum IGF-1 levels in infants at age 6 months were lower than those in infants at age 3 months. The IGF-1 levels showed a slow increase with age. Serum IGF-1 levels were lower in girls as compared to boys only at age 6 months. No correlation was found between either serum IGFBP-3 levels and body mass index (BMI) or serum IGFBP-3 and weight and height standard deviation scores (SDS). A weak correlation was observed between serum IGF-1 and IGFBP-3 concentrations.Conclusions: The age- and gender-specific reference values for serum IGF-1 and IGFBP-3 reported in this study will aid in the diagnosis of GH deficiency and in the monitoring of children receiving GH treatment.Conflict of interest:None declared.     

The relationship of serum erythropoietin level with coronary collateral grade

Background

Erythropoietin has been shown to induce neovascularization and protect against ischemic vascular injury. We investigated whether a higher serum erythropoietin (EPO) level is related to better coronary collateral vessel grade.

Methods

Ninety-nine patients with stable angina pectoris who have at least 1 coronary stenosis of equal to or greater than 70% at coronary angiography were prospectively enrolled. Serum EPO and vascular endothelial growth factor (VEGF) levels were studied. Coronary collateral degree was graded according to the Rentrop method. Patients with grade 2-3 collateral degree were included in the good collateral group and formed Group I. The patients with grade 0-1 collateral degree were included in the poor collateral group and formed Group II.

Results

The serum EPO level was significantly higher in the good collateral group (17.3 ± 9.3 mU/mL vs 11.7 ± 5.0 mU/mL; P < 0.001). There was also a positive correlation between serum EPO level and Rentrop score (r = 0.39; P < 0.001). In multivariate analysis, serum EPO level (odds ratio [OR] 1.336; 95% confidence interval [CI], 1.120-1.593; P = 0.001), oxygen saturation (OR 0.638; 95% CI, 0.422-0.963; P = 0.033) and presence of chronic total occlusion (CTO) (OR 26.7; 95% CI, 3.874-184.6; P = 0.001) were independently related to well-developed coronary collaterals.

Conclusions

Higher serum EPO level is related to better coronary collateral development. Erythropoietin may have a positive effect on the development of collaterals and may provide a new agent for the treatment strategies to enhance coronary collateral vessel development.     

Clinical and epidemiological characteristics of thyroid hemiagenesis: ultrasound screening in patients with thyroid disease and normal population

Thyroid hemiagenesis is a rare form of thyroid dysgenesis, in which one thyroid lobe fails to develop. The true prevalence of this rare abnormality is about 0.05–0.2% in normal population. We aimed to determine prevalence of thyroid hemiagenesis in patients with various thyroid disorders and a normal population in a mild to moderate iodine-deficient area. The clinical and thyroid ultrasonography records of 4,833 patients who presented with various thyroid disorders were reviewed. In addition, ultrasonographic data of two large surveys carried out for the community screening of iodine status of children (n = 4,772) and thyroid disorders of adult subjects (n = 2,935) were analyzed. In patients with thyroid disorders, we found 12 cases with thyroid hemiagenesis (0.25%). Thyroid hemiagenesis was due to the agenesis of the left lobe in all cases. The underlying thyroid diseases were Hashimoto’s thyroiditis (n = 4), euthyroid multinodular goiter (n = 4), and toxic adenoma (n = 1). Three subjects have no underlying thyroid disease. In ultrasonography screening of normal population, altogether, the absence of the left lobe was detected in only two cases, indicating a true prevalence of thyroid hemiagenesis of 0.025%. None of the reviewed patients had thyroid dysfunction. Our community-based data is in accordance with previous studies in terms of prevalence and male-to-female ratio.     

Repaglinide plus single-dose insulin glargine: a safe regimen for low-risk type 2 diabetic patients who insist on fasting in Ramadan

Aim of this prospective study is to evaluate the effect of repaglinide t.i.d. (three times a day) plus single-dose insulin glargine regimen in low-risk type 2 diabetic patients during Ramadan fasting. Participants had been taking the regimen for at least 3 months. Patients with a history of diabetic coma, severe hypoglycemic crisis or repeating attacks of hypoglycemia were excluded. Hypoglycemic unawareness, kidney or liver disease or HbA1c over 8% were also accepted as exclusion criteria. Eleven patients who insisted on this worship and eight non-fasting cases were involved. All were told to make home-glucose-monitorisation weekly and report any hypoglycemic event throughout Ramadan. Fasting blood glucose (FBG), post-prandial blood glucose (PBG) and fructosamine levels, body weights and blood pressures were recorded just before and after Ramadan. Seven patients in each group concluded the follow-up. Any significant change was detected in the parameters in either groups (P>0.05). Glucose control remained unchanged; fructosamine 318.14+/-65.38 versus 317.28+/-52.80 mmol/L in fasting group, 290.71+/-38.48 versus 290+/-38.56 mmol/L in non-fasting group. None of them exhibited either a major or a minor hypoglycemic event. The results of this pilot study indicated that repaglinide t.i.d. plus single-dose insulin glargine regimen was safe for low-risk type 2 diabetic patients who insisted on fasting during Ramadan.     

Influence of Heavy Cigarette Smoking on Heart Rate Variability and Heart Rate Turbulence Parameters

Background: Cigarette smoking increases the risk of cardiovascular events related with several mechanisms. The most suggested mechanism is increased activity of sympathetic nervous system. Heart rate variability (HRV) and heart rate turbulence (HRT) has been shown to be independent and powerful predictors of mortality in a specific group of cardiac patients. The goal of this study was to assess the effect of heavy cigarette smoking on cardiac autonomic function using HRV and HRT analyses. Methods: Heavy cigarette smoking was defined as more than 20 cigarettes smoked per day. Heavy cigarette smokers, 69 subjects and nonsmokers 74 subjects (control group) were enrolled in this study. HRV and HRT analyses [turbulence onset (TO) and turbulence slope (TS)] were assessed from 24‐hour Holter recordings. Results: The values of TO were significantly higher in heavy cigarette smokers than control group (?1.150 ± 4.007 vs ?2.454 ± 2.796, P = 0.025, respectively), but values of TS were not statistically different between two groups (10.352 ± 7.670 vs 9.613 ± 7.245, P = 0.555, respectively). Also, the number of patients who had abnormal TO was significantly higher in heavy cigarette smokers than control group (23 vs 10, P = 0.006). TO was correlated with the number of cigarettes smoked per day (r = 0.235, P = 0.004). While LF and LF/HF ratio were significantly higher, standard deviation of all NN intervals (SDNN), standard deviation of the 5‐minute mean RR intervals (SDANN), root mean square of successive differences (RMSSD), and high‐frequency (HF) values were significantly lower in heavy smokers. While, there was significant correlation between TO and SDNN, SDANN, RMSSD, LF, and high frequency (HF), only HF was correlated with TS. Conclusion: Heavy cigarette smoking has negative effect on autonomic function. HRT is an appropriate noninvasive method to evaluate the effect of cigarette on autonomic function. Simultaneous abnormal HRT and HRV values may explain increased cardiovascular event risk in heavy cigarette smokers.     

Bone mineral density in familial Mediterranean fever

The aim of this study was to evaluate the bone mineral density (BMD) in familial Mediterranean fever (FMF) and to search the effects of genetic factors, family history of FMF and types of clinical attacks on BMD. Forty-four attack-free patients with FMF and 36 healthy voluntary subjects were included in the study. BMD measurements of lumbar spine and left proximal femur were performed by dual energy X-ray absorptiometry (DEXA). There was no statistically significant difference between patient and control groups regarding median values of lumbar BMD (P?=?0.06), lumbar T (P?=?0.08) and Z (P?=?0.12) scores, femoral neck BMD (P?=?0.13), femoral T (P?=?0.22) and Z (P?=?0.16) scores and total femur BMD (P?=?0.14), T (P?=?0.19) and Z (P?=?0.27) scores. Patients with negative FMF family history had significantly lower femoral neck BMD (P?=?0.018), femoral neck T (P?=?0.009) and Z (P?=?0.01) scores and total femur BMD (P?=?0.033) than patients with positive FMF family history. There was no significant difference among the groups regarding mutation characteristic and types of attacks in lumbar BMD, T and Z scores, femoral neck BMD, T and Z scores and total femur BMD, T and Z scores (P?>?0.05). We found that the bone loss of patients with FMF is not different from that of the controls. The increased bone loss in the patients with negative family history for FMF should be further investigated with larger patient groups taking into consideration of the risk factors related to family history for osteoporosis.     

Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism

Objective: Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is characterized by failure of initiation or maintenance of puberty due to insufficient gonadotropin release, which is not associated with anosmia/hyposmia. The objective of this study was to determine the distribution of causative mutations in a hereditary form of nIHH. Methods: In this prospective collaborative study, 22 families with more than one affected individual (i.e. multiplex families) with nIHH were recruited and screened for genes known or suspected to be strong candidates for nIHH. Results: Mutations were identified in five genes (GNRHR, TACR3, TAC3, KISS1R, and KISS1) in 77% of families with autosomal recessively inherited nIHH. GNRHR and TACR3 mutations were the most common two causative mutations occurring with about equal frequency. Conclusions: Mutations in these five genes account for about three quarters of the causative mutations in nIHH families with more than one affected individual. This frequency is significantly greater than the previously reported rates in all inclusive (familial plus sporadic) cohorts. GNRHR and TACR3 should be the first two genes to be screened for diagnostic purposes. Identification of causative mutations in the remaining families will shed light on the regulation of puberty.