Several studies have shown association of single nucleotide polymorphisms (SNPs) of hepcidin regulatory pathways genes with impaired iron status. The most common is in the TMPRSS6 gene. In Africa, ...very few studies have been reported. We aimed to investigate the correlation between the common SNPs in the transmembrane protease, serine 6 (TMPRSS6) gene and iron indicators in a sample of Egyptian children for identifying the suitable candidate for iron supplementation.Patients and methods One hundred and sixty children aged 5-13 years were included & classified into iron deficient, iron deficient anemia and normal healthy controls. All were subjected to assessment of serum iron, serum ferritin, total iron binding capacity, complete blood count, reticulocyte count, serum soluble transferrin receptor and serum hepcidin. Molecular study of TMPRSS6 genotyping polymorphisms (rs4820268, rs855791 and rs11704654) were also evaluated.Results There was an association of iron deficiency with AG of rs855791 SNP, (P = 0.01). The minor allele frequency for included children were 0.43, 0.45 & 0.17 for rs4820268, rs855791 & rs11704654 respectively. Genotype GG of rs4820268 expressed the highest hepcidin gene expression fold, the lowest serum ferroportin & iron store compared to AA and AG genotypes (p = 0.05, p = 0.05, p = 0.03 respectively). GG of rs855791 had lower serum ferritin than AA (p = 0.04), lowest iron store & highest serum hepcidin compared to AA and AG genotypes (p = 0.04, p = 0.01 respectively). Children having CC of rs11704654 had lower level of hemoglobin, serum ferritin and serum hepcidin compared with CT genotype (p = 0.01, p = 0.01, p = 0.02) respectively.Conclusion Possible contribution of SNPs (rs855791, rs4820268 and rs11704654) to low iron status.
Asthma is a chronic inflammatory disorder of the airways with diverse overlapping pathologies and phenotypes contributing to a significant heterogeneity in clinical manifestations. Obesity may modify ...asthma risk, phenotype, and prognosis. A suggested mechanism linking obesity and asthma is through systemic inflammation. Adipokines secreted by adipose tissue were suggested to provide a link between obesity and asthma.
To have an understanding for the contribution of adiponectin, resistin and MCP-1 to development of distinct asthma phenotype in overweight/obese children through assessment of their serum level and correlation to pulmonary function tests.
The study included 29 normal weight asthmatics, 23 overweight/obese asthmatic children and 30 controls. All cases were subjected to detailed history taking, thorough examination and pulmonary function tests. Serum adiponectin, resistin, MCP-1 and IgE were assessed to all recruited subjects.
Adiponectin level was significantly higher in overweight/obese asthmatics (24900 ± 1600 ng/ml) compared to normal weight asthmatics (21700 ± 1700 ng/ml) and control (23000 ± 3200 ng/ml), (p < 0.001 & 0.051 respectively). Normal weight asthmatics had significantly lower adiponectin level than control, (p = 0.039). A significant low level of MCP-1 in overweight/obese asthmatics (149.5 (20-545) ng/L) compared to control (175 (28 -1123.5) ng/L), p = 0.037. No significant difference was found regarding resistin. Normal weight asthmatics had significantly lower FEV
% and FVC% compared to overweight/obese asthmatics (p = 0.036, 0.016 respectively). A significant positive correlation was found between (FEV1%, FVC) and BMI in normal weight asthmatics (P = 0.01, < 0.01 respectively) and a significant negative correlation between PEF and BMI (-0.42, p = 0.05) in obese/overweight asthmatics. Resistin/adiponectin ratio was not affected by sex, degree of asthma severity or level of asthma control in either normal weight or overweight/obese asthmatic.
This work could suggest that adiponectin may play a role in overweight/obese asthma phenotype where it is possible to have a dual action (pro & anti- inflammatory). It seems that resistin had no role in asthma pathogenesis.
Summary Introduction Primary nocturnal enuresis is one a sleep-related phenomenon characterized by disruption in the relationship between arousal and urination. Corticotropin-releasing factor (CRF) ...is a neurohormone released from the paraventricular nucleus of the hypothalamus into the median eminence to elicit release of adrenocorticotrophin from the anterior pituitary. It may act to modulate autonomic function and behavior in concert with the endocrine effects. Conflicting animal studies about the role of CRF in micturition, either facilitating or inhibiting, have been raised. It was suggested to be a novel target for treatment of urinary disorders based on the finding that manipulation of CRF in the pontine micturition circuit could affect urodynamic function. Aim The aim was to throw light on the possible role of CRF in primary monosymptomatic nocturnal enuresis by assessing its serum level. Subjects and methods Twenty-nine children aged 8–14 years complaining of primary monosymptomatic nocturnal enuresis and 16 age- and sex-matched healthy children with good toilet control day and night were recruited to the study. History taking, clinical examination, and assessment of serum CRF levels in the morning and evening (9 a.m. and 9 p.m.) were carried out for all patients and controls. Results and discussion A positive family history of enuresis was detected in 82.8% of enuretic patients. Serum levels of CRF (both morning and evening) were significantly lower in patients than in controls. Several animal studies suggested that CRF in descending projections from Barrington’s nucleus to the lumbosacral parasympathetic neurons is inhibitory to micturition, which supports our results and the assumption that reduction of the evening serum CRF level could have a role in the occurrence of primary monosymptomatic nocturnal enuresis. No significant difference was found between morning and evening CRF serum levels in either cases or controls, which negates our assumption of having a rhythmic pattern of release (figure). No correlations with age were found. According to their history, all our enuretic patients were deep sleepers. Deep sleep and difficult arousal were found to have a major role in primary monosymptomatic nocturnal enuresis. It was proposed that CRF function may allow arousal to occur before micturition to facilitate preparative behaviors. A lower CRF level may explain deep-sleep pattern in children with enuresis. Conclusion CRF was deficient in our enuretic children, which may draw attention to the possible pathophysiological implications in primary nocturnal enuresis (either at the level of loss of inhibitory effect on micturition or lack of arousal in response to bladder distension). Further proof studies are recommended.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK, ZRSKP
Introduction
Vitamin D deficiency was hypothesized to increase the risk of respiratory infections and asthma exacerbation through a reduced production of cathelicidin, a multifunctional ...anti-microbial peptide essential for normal immune responses to infections.
Aims
Evaluation of vitamin D status and its impact upon cathelicidin in children with infection-induced asthma through assessment of their serum levels.
Patients and methods
The study included 65 infection-induced asthmatic children aged 9.32 ± 2.35 years (33 in exacerbation and 32 severity matched in remission) and 25 healthy controls. All children were subjected to history taking, physical examination, pulmonary function tests, CBC, and assessment of serum levels of vitamin D (25(OH)D) and cathelicidin using ELISA.
Results
All asthmatics and controls were deficient in vitamin D (≤ 20 ng/ml), and no significant difference was found between controls (10.77 ± 5.6 ng/ml), remission group (9.8 ± 4.89 ng/ml), and exacerbation group (8.49 ± 5 ng/ml),
p
= 0.29. Cathelicidin was higher in the control group (7.69 ± 4.3 ng/ml) compared to that in the remission ones (6.88 ± 3.66 ng/ml), but not significant, while it was significantly higher in the exacerbation group (9.78 ± 3.03 ng/ml) compared to that in the remission ones (
p
= 0.01). No significant difference between the three groups regarding percentage having vitamin D level < 10 ng/ml (
p
= 0.3). There was no correlation between serum cathelicidin and vitamin D levels in either asthmatics or controls. Both levels had no correlation with spirometry indices and no relation to frequency of exacerbations.
Conclusion
Vitamin D deficiency cannot explain infection-induced asthma. Cathelicidin elevation in exacerbations seems to be independent of vitamin D.
Conflicting data are available regarding oral iron therapy in iron deficiency (ID), iron deficiency anemia (IDA) and its relation to DNA damage, oxidative stress and antioxidant markers. Our aim was ...assessment of DNA damage, oxidative stress and anti-oxidant markers in children with ID and IDA before and after low dose iron therapy. The study was conducted in two stages, first stage was assessment of DNA damage using comet assay, malondialdehyde (MDA) and anti-oxidant enzymes levels (superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPx) & total antioxidant capacity (TAC) in thirty-nine children with IDA, forty-five children with ID without anemia and sixty healthy controls. Second stage was assessment of previous markers together with hematological response following oral therapy with 10 mg/day ferric ammonium citrate for 8 weeks. Before treatment, there was no significant difference between the three groups regarding MDA, GPx, SOD, CAT and TAC. A significant increase was detected in the DNA damage in the 2 groups compared to control (
p
< 0.005). Following iron therapy, hematological parameters was improved together with a significant increase in GPx (
P
= 0.04), SOD (
p
= 0.002), TAC (
P
= 0.001) and non-significant reduction in DNA damage in IDA group. There was a significant increase in SOD (
p
= 0.001) & TAC (
p
= 0.001) and significant decrease in DNA damage (
p
= 0.001) in ID group. Low dose iron therapy could be sufficient to improve antioxidant status and DNA damage together with correction of hematologic indices.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Abstract Objective To investigate whether primary nocturnal enuresis (PNE) is related to a disturbance in anti-diuretic hormone (ADH) secretion pattern at night which may be genetically inherited. ...Subjects and methods This study included 121 children aged 6–18 years with PNE and 45 matched healthy children as controls. Enuretic children were subjected to genetic evaluation and cytogenetic assessment ( n = 99). Assay of ADH levels (9–11 am & 9–11 pm) was performed for cases ( n = 99) and controls. Results There was a positive family history in 82.4% (autosomal dominant in 35.4% and autosomal recessive in 64.6%). ADH morning and evening values were reversed in cases vs controls with significant difference in morning level. Reversal of circadian rhythm was present in 71.7% of cases and normal rhythm in 28.3% of them. Morning and evening ADH levels revealed significant difference between patients with reversed rhythm and those with normal one, and with controls. Mode of inheritance had no influence on hormonal level. Chromosomal abnormality was detected in 3 cases with reversed ADH rhythm, involving chromosome 22 in two of them. Conclusion PNE could be attributed in part to reversed ADH circadian rhythm which may be linked to chromosome 22.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
Background
Nocturnal enuresis (NE) is one of the most common pediatric sleep-related problems. Data on sleep patterns in children with NE are conflicting.
Objective
We aimed at studying the sleep ...architecture, associated breathing problems, and its relation to antidiuretic hormone (ADH) in children with primary NE.
Patients and methods
This study included 31 children aged 6-18 years with primary monosymptomatic NE and 16 healthy matched controls. They were subjected to a single overnight polysomnography and assessment of ADH levels at 9-11 a.m. and 9-11 p.m.
Results
Enuretic children had significantly prolonged sleep latency and higher stage N1 percentage, less total sleep time, lower sleep efficiency, and lower rapid eye movement sleep percentage compared with the control group. Ten (32.2%) NE children had nocturnal arrhythmia, whereas six (19.35%) had a respiratory distress index more than 5. Reversed ADH secretion pattern was present in 82% of the NE children. Children with reversed ADH secretion had lower stage N1 and respiratory distress index, and higher sleep efficiency, compared with NE children with normal ADH rhythm.
Conclusion
Primary NE is associated with disturbed sleep architecture. NE could be a presenting symptom for hidden sleep disordered breathing. The association of NE with cardiac arrhythmia is an interesting finding that requires further research. Most NE children have a reversed pattern of ADH secretion.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
BACKGROUND: Ceruloplasmin (Cp), haptoglobin, and hemopexin play a role in iron homeostasis and may function to modulate the systemic inflammatory response and be involved in tissue repair. We ...hypothesized that these proteins could be biological markers for bronchial asthma that reflect the involvement of iron oxidative stress in asthma pathogenesis.
AIM: Evaluation of serum levels of proteins involved in iron homeostasis (Cp, hemopexin, and haptoglobin) in asthmatic children and their correlation to pulmonary functions.
MATERIALS AND METHODS: Sixty moderate to severe persistent asthmatic children aged 6–13 years were included (30 during attacks and 30 in-between attacks). Thirty healthy matched controls were also recruited. All children were subjected to history taking, clinical evaluation and assessment of complete blood picture, serum levels of Cp, haptoglobin, hemopexin, and total IgE. Pulmonary function tests were assessed for all patients.
RESULTS: Serum Cp and haptoglobin were significantly elevated in asthmatic children between attacks (448.04 ± 386.79), (993.33 ± 554.56) compared to controls (168.42 ± 13.46), (473.33 ± 350.3), (p = 0.0002, p < 0.0001) and to asthmatics during exacerbations (288.8 ± 219.6), (620 ± 467.86), (p = 0.014, p = 0.006). Serum hemopexin was significantly higher in asthmatics between attacks (509.33 ± 341.51) compared to controls (296.67 ± 158.38) (p < 0.003) but no significant difference compared to acute exacerbations (477.33 ± 396.6). No significant correlations were found between any of the assessed protein levels and pulmonary functions. Hemoglobin concentration was significantly higher among stable asthmatics compared to acute exacerbation and control groups.
CONCLUSION: Cp, haptoglobin, and hemopexin can be used as a panel of non-invasive biomarkers that reflect the involvement of iron oxidative stress in asthma pathogenesis.
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