A new and practical instrument for antihelix scoring: Gillies skin hook

WOS: 000413898700013The patient was presented with prominent ear on the right side unilaterally. Operation was planned beyond written informed consent were taken from patient. He was 23 years old. On the physical examination, we observed underdeveloped antihelical fold and prominent concha. The helix to mastoid distance was measured 25 mm in the upper third, 30 mm in the middle third at its widest point and 22 mm in the lower third. The concha was deep and conchamastoid angle was increased and measuring 80°. The concha scaphal angle was 125°. We used Furnas conchal-mastoid sutures and Mustardé scapha-conchal sutures in the operation. The cartilage was firm and to break strength for reshaping and forming the anti-helical fold, we scored antihelix with Gillies skin hook (Figure 1)

The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory

Introduction. Primary immune deficiency disorders (PIDs) are a group of diseases with profound defects in immune cells. The traditional diagnostics have evolved from clinical evaluation, flow cytometry, western blotting, and Sanger sequencing to focusing on small groups of genes. However, this is not sufficient to confirm the suspicion of certain PIDs. Our innovative approach to diagnostics outlines the algorithm for PIDs and the clinical utility of immunophenotyping with a custom-designed multigene panel. Materials and Methods. We have designed a diagnostic algorithm based on flow cytometry studies to classify the patients; then the selected multigene panel was sequenced. In silico analysis for mutations was carried out using SIFT, Polyphen-2, and MutationTaster. Results and Discussion. The causative mutation was identified in 46% of PIDs. Based on these results, this new algorithm including immune phenotyping and NGS for PIDs was suggested for the clinical use. Conclusions. This study provides a thorough validation of diagnostic algorithm and indicates that still the traditional methods can be used to collect significant information related to design of most current diagnostics. The benefits of such testing are for diagnosis and prevention including the prenatal and preimplantation diagnosis, prognosis, treatment, and research

Complicated fingertip defects: Clinical approach to their reconstruction and the flaps that can be used in emergency settings

Aim: Numerous flaps have been described for the reconstruction of complicated defects of the fingertip. The aim of this study was to evaluate our experience on flaps that can be used in emergency settings, and analyze the outcomes of these procedures. Materials and Methods: A retrospective analysis of 81 patients, who presented to the emergency unit with complicated fingertip defects between 2009 and 2014 and in whom replantation was deemed unsuitable due to various reasons including crush or avulsion type of injury mechanism, absence of the amputated part, or unrepairable vascular injury in the amputate, was carried out. Results: Eighty-nine flaps were performed in 81 patients. The defects were repaired with V-Y advancement flaps in 57% (45 patients – 51 fingers) of the defects, kite flap in 15% (13 patients – 13 fingers), cross-finger flap in 12% (11 patients – 11 fingers), Kutler flap in 6% (4 patients – 5 fingers), digital artery perforator flap in 6% (4 patients – 5 fingers), and thenar flap in 4% (4 patients – 4 fingers) of the injuries. One patient operated with the digital artery perforator flap, and one other operated with the kite flap, developed partial flap necroses. There were no other complications. Conclusion: Functional and esthetic restoration of soft tissues in the fingers is possible with the use of appropriate flaps and meticulous surgical technique