Summary
Background
Zinc deficiency is common among children in developing countries; but, there is still conflicting evidence on whether the alteration in zinc metabolism is the predictive of disease ...severity in the setting of critical illness.
Objectives
To assess serum zinc levels in children admitted with pneumonia, and also to study the relationship between zinc levels and severity and mortality from pneumonia.
Methods
In a prospective cohort study, we enrolled 320 critically ill children admitted to the paediatric intensive care unit (PICU) with severe pneumonia (group 1) in addition to 160 children admitted into wards with pneumonia (group 2). Serum zinc measured in all patients on admission.
Results
Serum zinc level was significantly lower among patients admitted to PICU (group 1) compared with patients admitted to wards (group 2) (P < .001). There was a highly statistically significant decrease in zinc level in critically ill children complicated by sepsis, mechanically ventilated cases and those who died. Regarding the diagnosis of sepsis, zinc had an area under the curve (AUC) of 0.81 while C‐reactive protein (CRP) had an AUC of 0.83. Regarding the prognosis, zinc had an AUC of 0.649 for prediction of mortality, whereas the AUC for Pediatric risk of mortality (PRISM), Pediatric index of mortality2 (PIM2) and CRP were 0.83, 0.82 and 0.78, respectively. The combined zinc with PRISM and PIM2 has increased the sensitivity of zinc for mortality from 86.5% to 94.9%.
Conclusion
Zinc has both a diagnostic and a prognostic value for children with pneumonia.
•The GABRG2 C588 T gene polymorphism may contribute to the development of idiopathic generalized epilepsy.•The GABRG2 C588 T gene polymorphism may play role in pharmacoresistance to antiepileptic ...drugs.•These results may contribute to a personalisation of epilepsy management.
Previous studies have suggested that GABARG2 (Gamma-Aminobutyric acid type A Receptor Gamma 2 subunit) could be a gene of interest in genetic epilepsy; through possible associations with increased epilepsy susceptibility or resistance to antiepileptic drugs. The present study was designed to explore whether the GABARG2 C588 T (rs211037) genetic variant predicts susceptibility to epilepsy and pharmacoresistance among Egyptian children with Idiopathic Generalized Epilepsy (IGE).
A cohort of 210 Egyptian children was divided into two groups for this case-control study: group (I) included 100 children with IGE, group (II) comprised of 110 paediatric healthy controls. PCR-RFLP was used to amplify the C588 T polymorphism of the GABARG2 gene, which was digested with APOI restriction enzymes.
There was a higher frequency of the TT genotype (P = 0.004) and T allele (P = 0.002) of the C588 T polymorphism of the GABARG2 gene in patients than controls. Besides, there was a substantial increase of the T allele among drug-resistant patients compared with those responding to antiepileptic drugs (P = 0.00015). Children with the C allele were four times more likely to be responsive to antiepileptic drugs than non-C-allele-carriers.
The C588 T polymorphism of GABARG2 is associated with an increased risk of developing childhood IGE and may modulate patients’ response to antiepileptic drugs.
Graphene oxide (GO) with high specific surface area was prepared and functionalized with ethylene diamine tetra‐acetic acid (EDTA). The as‐prepared GO and the functionalized one (GO‐EDTA) were ...characterized using high resolution transmission electron microscopy (HRTEM), Fourier transform infrared spectroscopy (FT‐IR), X‐ray diffraction (XRD), and Raman spectroscopy. The as‐prepared and EDTA funcationalized GO were applied as adsorbent to remove strontium(II) and cobalt(II) from water. The results indicated that the prepared materials are efficient adsorbents for strontium(II) and cobalt(II) removal. The adsorption of CoII and SrII under effects of contact time, temperature, and pH was investigated It is concluded that the maximum adsorption capacities of GO for CoII and SrII were about 168 and 140 mg·g–1, whereas of GO‐EDTA the values were about 197 and 158 mg·g–1, respectively. It is indicated that pH 6 and temperature 40 °C are the best condition for CoII and SrII removal from water. The application of Langmuir and Freundlich isotherms indicated that Langmuir isotherm is best fit for CoII and SrII equilibrium adsorption. Adsorption kinetics were studied by applying pseudo first‐order, pseudo second‐order, and intraparticle diffusion models on the experimental data. The results proved that pseudo second‐order model is the best represented adsorption kinetics. Appling the intraparticle diffusion regressions on the experimental data indicated that intraparticle diffusion involved in adsorption process, which was not the only rate‐controlling step.
The zinc finger protein IKAROS (IKZF1) is an essential transcription factor in haematopoiesis that is involved primarily in lymphoid tissue differentiation. Many studies have indicated that IKZF1 ...alterations may be associated with acute lymphoblastic leukaemia, but the results remain controversial.
We aimed to investigate the association of the rs4132601 T/G and rs10272724 T/C IKZF1 gene polymorphisms with the risk of childhood acute lymphoblastic leukaemia and to determine whether these genetic variants affect the clinical parameters and the iron profiles of these children cohort.
This case control study was conducted on 170 Egyptian children comprising of two groups: group (I) included 90 children diagnosed with acute lymphoblastic leukaemia and group (II) comprised of 80 ages and sex-matched healthy control children. The studied polymorphisms were genotyped using PCR restriction fragment length polymorphism (PCR-RFLP).
A higher frequency of the mutant GG genotype and G allele of rs4132601 was found in the patient group than in the control group. The results also showed a significant difference among the rs10272724 genotypes, with a higher frequency of the mutant CC genotype and C allele in the patients than in controls. The mutant GG genotype of rs4132601 and the mutant CC genotype of rs10272724 were associated with a higher serum ferritin level and transferrin saturation and an older age at diagnosis of acute lymphoblastic leukaemia than the other genotypes.
IKZF1 rs4132601 and rs10272724 could be considered significant risk contributors to childhood acute lymphoblastic leukaemia and may impact the iron profiles in these children.
Attention-deficit hyperactivity disorder (ADHD) has been proposed to stem from multiple etiologies, perhaps genetic in nature with biological and psychosocial motivates. Tryptophan hydroxylase 2 ...(TPH2) and Reelin (RELN) genes may play a key role in triggering ADHD. The purpose of this case-controlled study was to explore the linkage of the genetic variants of TPH2 and RELN genes with ADHD. One hundred Egyptian children with ADHD and 105 age and sex matched controls constituted the study samples. Genotyping was performed for TPH2 (rs11179027; rs1843809) and RELN (rs736707; rs362691) gene polymorphisms using real time PCR assay. The alleles and genotype frequencies of TPH2 and RELN gene polymorphisms were assessed in all study participants. The frequencies of the alleles of TPH2 rs11179027 (OR = 1.75, 95% CI = 1.08–2.85, p = 0.022), TPH2 rs1843809 (OR = 3.67, 95% CI = 1.82–7.43, p = <0.001), and RELN rs736707 (OR = 1.61, 95% CI = 1.03–2.51, p = 0.035) were significantly associated with ADHD, while there was no significant difference between ADHD patients and controls regarding the frequency of RELN rs362691 (OR = 1.34, 95% CI = 0.73–2.48, p = 0.34). The frequencies of CTAG, CTGG, CTAC, CTGC, and GTAC haplotypes were significantly higher in ADHD patients than in controls (p = 0.011, 0.005, 0.015, 0.001, and 0.027, respectively). In conclusion, TPH2 rs11179027, TPH2 rs1843809, and RELN rs736707 gene alleles and haplotypes might be significantly correlated with the genetic susceptibility to ADHD in Egyptian children.
Type 1 Diabetes Mellitus (T1DM) is a multifactorial autoimmune disease. The Protein Tyrosine Phosphatase Non-receptor 22 (PTPN22) gene is an important negative regulator of signal transduction ...through the T-cell Receptors (TCR). A PTPN22 polymorphism, C1858T, has been found to be a risk determinant for several autoimmune diseases, including T1DM, in different populations.
The present study was aimed to analyze a possible association between the C1858T polymorphism in Egyptian children with T1DM.
This case-control study included 240 children divided evenly between T1DM patients and controls. The PTPN22 C1858T polymorphism was genotyped using polymerase chain reaction with Restriction Fragment Length Polymorphism (RFLP).
Both the 1858CΤ and 1858ΤΤ genotypes and the 1858T allele were found more frequently in patients (32.5% and 18.7%, respectively) than in controls (10% and 5.0%, respectively), P=0.013 and P=0.007, respectively. Among females, the 1858T allele was more common in patients (18%) than in controls (2.6%), P=0.014.
These findings suggest that the PTPN22 1858T allele could be a T1DM susceptibility factor in the Egyptian population and that it might play a different role in susceptibility to T1DM according to gender in T1DM patients.
Highlights • Results confirmed the claimed role of SCN1A c.3184 A/G polymorphism in epilepsy. • Role of SCN1A c.3184 A/G polymorphism in pharmacoresistance to AEDs • CYP3A5 *3 variants have no ...contributing effect on pharmacoresistance to AEDs
Objectives: This study aimed to explore whether 16S rRNA gene amplification by real time PCR and sequencing could serve as genetic-based methods in rapid and accurate diagnosis of neonatal sepsis.
...Patients and methods: This case control study was conducted on 40 neonates suffering from sepsis like manifestations recruited from the neonatal intensive care unit of Menoufia university hospital over a period of 6 months. Their blood samples were used for paired analysis of bacterial growth using BACTEC 9050 instrument and real time PCR assay with subsequent DNA sequencing for bacterial species identification.
Results: The detection rate of culture proven sepsis was 70%. By using real time 16S r RNA PCR amplification method, the detection of bacteria was improved to 80%. Real time PCR revealed sensitivity, specificity, positive predictive value and negative predictive value of 100%, 66.7%, 87.5% and 100% respectively. Compared to culture, the 16S rRNA real time PCR demonstrated a high negative value for ruling out neonatal sepsis. There was significant statistical difference between the PCR positive and negative cases as regards the hematological sepsis score. The results demonstrated the ability of DNA sequencing to recognize 4 pathogens which were negative by blood culture. The time consumed to detect sepsis using blood culture was up to 5 days while it took up to 16 h only by PCR and sequencing methods.
Conclusion: 16S rRNA gene amplification by real time PCR and sequence analysis could be served as ideal and reliable genetic-based methods to diagnose and rule out sepsis with provision of additional data that cannot be obtained by routine laboratory tests with a shorter turnaround time than those with culture-based protocols.
Sepsis is a life-threatening condition that arises when the response of the body to infection injures its own tissues and organs. The early prediction of sepsis by current clinical and laboratory ...methods remains inadequate. Serum neutrophil gelatinase-associated lipocalin level is increased in sepsis irrespective of renal dysfunction. Therefore, we aimed to correlate the serum neutrophil gelatinase-associated lipocalin value determined at admission with clinical progression and severity of disease in critically ill children and to declare its role as a potential diagnostic and prognostic marker for sepsis in critically ill children in the emergency department.
A prospective cohort study.
The study carried out at the PICU of Menoufia University Hospital.
We serially enrolled 120 critically ill children admitted to the PICU at 2 fixed days per week in addition to 40 healthy children served as controls.
Clinical examination was performed including calculation of the Pediatric Risk of Mortality and Pediatric Index of Mortality 2. Serum neutrophil gelatinase-associated lipocalin measurement was performed for patients at admission and for the controls. Patients were followed up for 30 days. The discriminatory power of neutrophil gelatinase- associated lipocalin was determined using the receiver-operating characteristic and other predictive likelihood values.
Serum neutrophil gelatinase-associated lipocalin level was significantly higher among the total patient cohort and those with sepsis than among the controls (p < 0.001), also in patients with systemic inflammatory response syndrome without sepsis and patients without systemic inflammatory response syndrome (p = 0.04 and <0.001). Furthermore, plasma level of neutrophil gelatinase-associated lipocalin was significantly elevated in nonsurvivors compared with survivors (p < 0. 001). Receiver-operating characteristic curve analysis exhibited an area under the curve of 0.84 for neutrophil gelatinase-associated lipocalin for diagnosis of sepsis, whereas C-reactive protein had an area under the curve of 0.79. Regarding the prognosis, neutrophil gelatinase-associated lipocalin had an area under the curve of 0.74 for prediction of mortality, whereas the area under the curve for Pediatric Risk of Mortality, Pediatric Index of Mortality 2, and C-reactive protein were 0.59, 0.58, and 0.62, respectively.
Overall, the data support the view that measurement at admission, serum neutrophil gelatinase-associated lipocalin results in substantial added value for early diagnosis and prognostication of sepsis in critically sick children.
Type 1 diabetes mellitus is described as a chronic metabolic disorder characterized by aggressive immune β-cell destruction. There are a number of varied immune mechanisms for sustaining ...self-tolerance in opposition to the autoimmune disorders. A recessive tolerance is accomplished by thymic gland via a negative assortment of different clones, while a dominant tolerance is accomplished by the regulatory T cells (Treg) in the periphery. Treg (CD4+ CD25+FOXP3+) are subsets of T cells which have an essential role in maintaining tolerance.
To evaluate peripheral Treg (CD4+; CD25+; FOXP3+) in children cohort with T1DM.
This study included 64 children diagnosed with T1DM and 35 age- and sex-matched healthy children as controls. All children were clinically evaluated and subjected to assessment of complete blood count (CBC), glycated hemoglobin, surface and cytoplasmic detection of Treg by flow cytometry.
This study showed that the frequency of Treg (CD4+; CD25+; FOXP3+) was significantly lower in diabetic children than with normal controls (P<0.001). There was a significant (P <0.001) reduction in the Treg (CD4+; CD25+; FOXP3+) in T1DM children with uncontrolled (Hemoglobin A1c>7%) as compared to those with controlled (Hemoglobin A1c<7%) disease.
Diminished Treg in T1DM proved that auto-reactivation of T-cell as a result of the breakdown of immune tolerance takes part in the elaboration of autoimmune disorders as T1DM. Treg may be used in immunotherapy, thus preventing T1DM development due to its pivotal role in immune tolerance.
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