Haemochromatosis gene mutation H63D is a risk factor for iron overload in Egyptian beta- thalassemic children

Introduction: Iron overload is the main cause of morbidity and mortality in patients with β-thalassemia. The Aim: The aim of this study was to evaluate the prevalence of genetic markers (HFE mutations C282Y and H63D) among Egyptian β-thalassemic Children and its effect on their iron status. Patients and Methods: 59 β-thalassemic children attending the pediatric hematology clinic in Menoufiya University Hospital (23 thalassemia major, 23 thalassemia intermedia and13 thalassemia trait) with 50 apparently healthy, Egyptian children (control group) were screened for the prevalence of these two mutations by digestion of PCR products (RFLP). Serum ferritin level was measured by ELISA. Results: Neither carrier status for the C282Y allele nor homozygous status for the H63D allele were detected in any of the thalassemic children or the 50 controls. The H63D heterozygous state was detected in 15 (25.4%) thalassemic patients with an allele frequency of 12.71% and in 11 (22%) controls with an allele frequency of 11%. with no significant difference between the thalassemic groups and the controls. The prevalence of carriers for the H63D mutation was 26.1% with an allele frequency of 13.04% in patients with either β- thalassemia major or intermedia, while in β- thalassemia trait the prevalence of this mutation was 23.1% with an allele frequency of 11.54%. There were significant higher levels of the mean yearly serum ferritin in both β-thalassemia major and intermedia patients who are heterozygotes for the H63D mutation compared to those without this mutation. The mean serum ferritin levels were positively correlated with the age of the patients. On the other hand, the prevalence of iron -induced complications was not statistically different between patients carrying or not carrying this mutation (among TM and TI). Conclusions: There is no difference in the prevalence of H63D mutation between β-thalassemic patients and the normal children and the presence of a heterozygous H63D status and older age are two risk factors for iron overload in Egyptian β-thalassemic children Abbreviations: RFLP= Restriction Fragment Length Polymorphism, HCV=Hepatitis C Virus, ALT = Alanine aminotransferase, AST =Aspartate aminotransferase Keywords: Thalassemia, iron overload, hereditary hemochromatosis, HFE geneEgyptian Journal of Medical Human Genetics Vol. 9 (2) 2008: pp. 149-16

Impact of instrumentation in lumbar spinal fusion in elderly patients

Background and purpose An increasing number of lumbar fusions are performed using allograft to avoid donor-site pain. In elderly patients, fusion potential is reduced and the patient may need supplementary stability to achieve a solid fusion if allograft is used. We investigated the effect of instrumentation in lumbar spinal fusion performed with fresh frozen allograft in elderly patients

International Consensus Statement on Rhinology and Allergy: Rhinosinusitis

Background: The 5 years since the publication of the first International Consensus Statement on Allergy and Rhinology: Rhinosinusitis (ICAR‐RS) has witnessed foundational progress in our understanding and treatment of rhinologic disease. These advances are reflected within the more than 40 new topics covered within the ICAR‐RS‐2021 as well as updates to the original 140 topics. This executive summary consolidates the evidence‐based findings of the document. Methods: ICAR‐RS presents over 180 topics in the forms of evidence‐based reviews with recommendations (EBRRs), evidence‐based reviews, and literature reviews. The highest grade structured recommendations of the EBRR sections are summarized in this executive summary. Results: ICAR‐RS‐2021 covers 22 topics regarding the medical management of RS, which are grade A/B and are presented in the executive summary. Additionally, 4 topics regarding the surgical management of RS are grade A/B and are presented in the executive summary. Finally, a comprehensive evidence‐based management algorithm is provided. Conclusion: This ICAR‐RS‐2021 executive summary provides a compilation of the evidence‐based recommendations for medical and surgical treatment of the most common forms of RS

Biogenesis of the Unique 4′,5′-Dehydronucleoside of the Uridyl Peptide Antibiotic Pacidamycin

The pacidamycins belong to a class of antimicrobial nucleoside antibiotics that act by inhibiting the clinically unexploited target translocase I, a key enzyme in peptidoglycan assembly. As with other nucleoside antibiotics, the pacidamycin 4',5'-dehydronucleoside portion is an essential pharmacophore. Here we show that the biosynthesis of the pacidamycin nucleoside in Streptomyces coeruleorubidus proceeds through three steps from uridine. The transformations involve oxidation of the 5'-alcohol by Pac11, transamination of the resulting aldehyde by Pac5, and dehydration by the Cupin-domain protein Pac13.</p