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.     

Neuropsychological examination detects post-operative complications in idiopathic normal pressure hydrocephalus (iNPH): report of two cases

Subdural fluid collections (SFC) are characteristic complications of shunting for idiopathic normal pressure hydrocephalus (iNPH). This report presents two shunted iNPH patients with clinically silent postoperative SFC, detected after abnormal neuropsychological findings. These cases highlight the value of neuropsychological assessment in the routine postoperative assessment of iNPH.     

Variations in the Use of Diagnostic Criteria for Developmental Dysplasia of the Hip

Background

Wide variation exists in reported prevalence estimates and management standards of developmental dysplasia of the hip (DDH). Discrepancies in diagnosticians’ opinions may explain some of this variation.

Questions/purposes

We sought to determine (1) the consistency with which pediatric orthopaedic surgeons rate the importance of diagnostic criteria for DDH, and (2) whether there were geographic differences in how the diagnostic criteria were rated by surgeons.

Methods

One hundred ninety-seven of 220 members of the European Paediatric Orthopaedic Society and 100 of 148 members of the British Society of Children’s Orthopaedic Surgery treating children with DDH participated in this cross-sectional study across 35 countries (15 regions). Each rated 37 items in four domains that specialists previously had identified as the most important features associated with DDH in early infancy. We determined consistency using the intraclass correlation coefficient (ICC; two-way random-effects model) interpreted as poor (0–0.40), acceptable (0.41–0.74), or good (≥ 0.75).

Results

Poor consistency among surgeons was found in rating the 37 diagnostic criteria (ICC, 0.33; 95% CI, 0.24–0.45). Consistency was poor for three domains (patient characteristics/history: ICC, 0.29; 95% CI, 0.16–0.58; ultrasound: ICC, 0.26; 95% CI, 0.14–0.52; radiography: ICC, 0.34; 95% CI, 0.12–0.95) and acceptable for one (clinical examination: ICC, 0.50; 95% CI, 0.33–0.73). Surgeons in particular regions appeared to have a concept of DDH diagnosis that distinguished them from specialists of other regions; consistency in eight regions was greater (ICC ≥ 0.40) than consistency among all 15 regions.

Conclusions

The consistency of specialists in rating diagnostic criteria for DDH was lower than expected, and there was considerable geographic variation in terms of how specialists assigned importance ratings of the diagnostic criteria; these findings are somewhat counterintuitive, given the frequency with which this condition is diagnosed. These inconsistencies could explain, partly, the widely differing prevalence estimates and management standards of DDH.     

Deep Brain Stimulation of the Subgenual Cingulate Cortex for the Treatment of Chronic Low Back Pain

ObjectivesDespite converging basic scientific and clinical evidence of the link between chronic pain and depression, existing therapies do not often take advantage of this overlap. Here, we provide a critical review of the literature that highlights the intersection in brain networks between chronic low back pain (CLBP) and depression and discuss findings from previous deep brain stimulation (DBS) studies for pain. Based on a multidimensional model of pain processing and the connectivity of the subgenual cingulate cortex (SCC) with areas that are implicated in both CLBP and depression, we propose a novel approach to the treatment of CLBP using DBS of the SCC.Materials and MethodsA narrative review with literature assessment.ResultsCLBP is associated with a shift away from somatosensory representation toward brain regions that mediate emotional processes. There is a high degree of overlap between these regions and those involved in depression, including the anterior cingulate cortex, medial prefrontal cortex, nucleus accumbens, and amygdala. Whereas target sites from previous DBS trials for pain were not anatomically positioned to engage these areas and their associated networks, the SCC is structurally connected to all of these regions as well as others involved in mediating sensory, cognitive, and affective processing in CLBP.ConclusionsCLBP and depression share a common underlying brain network interconnected by the SCC. Current data and novel technology provide an optimal opportunity to develop clinically effective trials of SCC DBS for CLBP.     

The role of adipocytokines in insulin resistance in normal pregnancy: visfatin concentrations in early pregnancy predict insulin sensitivity

BACKGROUND: Throughout pregnancy maternal adipose tissue is metabolically active, producing adipocytokines involved in the process of insulin resistance. We explored the role of serum adipocytokines, including the newly identified adipocytokine visfatin, in the process of insulin resistance in normal pregnancy. METHODS: We examined 80 pregnant nonobese, nondiabetic white women during the 3 trimesters of pregnancy. All study participants underwent anthropometric measurements, adipocytokine evaluation, and a 75-g oral glucose tolerance test. Homeostasis mathematical model assessment (HOMA-R), insulin sensitivity index (ISI), and indices of beta-cell secretion were calculated. RESULTS: Maternal weight, percentage total body fat, hip circumference, and indices of beta-cell secretion increased significantly during the 3 trimesters, and HOMA-R and ISI increased and decreased, respectively, in the 3rd trimester. During early pregnancy, insulin resistance, beta-cell secretion, and weight correlated positively with leptin. During the 1st trimester, visfatin correlated negatively with percentage body fat and was the best positive predictor of 2nd trimester ISI. In the 2nd trimester, serum visfatin was the best negative predictor of percentage body fat. CONCLUSIONS: During normal pregnancy of nonobese, nondiabetic women, adipose tissue increases, accompanied by a significant progressive increase of insulin resistance. Visfatin concentrations in the 1st trimester positively predict insulin sensitivity during the 2nd trimester. Body fat mass during 1st trimester of pregnancy is negatively associated with insulin sensitivity during the 2nd trimester and perhaps should be kept under control.     

The effect of a 6-month intradialytic exercise program on hemodialysis adequacy and body composition: a randomized controlled trial

Background/aim

End-stage kidney disease (ESKD) is strongly associated with factors that aggravate the physical activity level and body composition status of hemodialysis patients (HD). Even though exercise in HD patients have shown remarkable benefits on hemodialysis adequacy, it is yet inconclusive if exercise can positively affect body composition parameters or if dialysis adequacy may affect body composition status. This study aimed to investigate the effect of a 6-month intradialytic exercise training program on dialysis adequacy indices and body composition parameters in HD patients.

Study design

A total of 24 HD patients were randomly assigned into two equally sized groups. The exercise group (EX group) participated in a 6-month intradialytic moderate-intensity aerobic exercise training program at the beginning of the HD sessions, three times a week for 60 min, and maintained a Borg’s Rating of Perceived Exertion score between 13 and 14. The Control group (C group) remained untrained. At baseline, during, and at the end of the 6-month study, we assessed single-pool Kt/V, urea reduction ratio (URR), and body composition parameters, such as extracellular water (ECW)/ intracellular water (ICW) ratio, body mass index (BMI) and lean tissue mass (LTM). In all patients, the 6-min-walking test (6MWT) was performed as a marker of physical performance.

Results

A significant increase of both Kt/V (increase by 19%, p?=?0.01), and URR (increase by 7%, p?=?0.03) values has been observed in the EX group after the 6-month training program. Similarly, a statistically significant increase in 6MWT distance (from 442?±?67 m to 481?±?68 m, p?=?0.02) in the EX group has also been found, compared to the C group (from 393?±?59 m to 427?±?81 m, p?=?0.06). Neither EX nor C group has shown significant changes in body composition parameters. After training, linear regression analysis revealed a strong positive correlation between Kt/V and 6MWT changes (r?=?0.74, p?=?0.04) in the EX group.

Conclusions

Six months of intradialytic aerobic exercise might increase dialysis adequacy, by increasing Kt/V and URR, and physical performance, regardless of changes in body composition indices.