Objective: To compare 2 distraction osteogenesis techniques in post-traumatic tibial nonunion patients with composite bone and soft-tissue defects. Design: Nonrandomized prospective, case series, single-center study. Setting: Department of Orthopaedics and Traumatology, Limb Reconstruction Unit, El-Helal hospital, Cairo, Egypt. Participants: Fifty post-traumatic tibial nonunion patients with composite bone and soft-tissue defects. Intervention: Twenty-five patients were treated using bone transport (BT) technique, and 25 patients were treated using acute shortening (AS) and distraction technique. Outcome Measurements: The external fixation index (EFI); functional and bone results; and complication rates. Results: All patients were followed for a minimum of 18 months after removal of their Ilizarov frame. AS and BT groups were followed up for a mean of 19.7 and 20.3 months, respectively. The mean bone gap after resection and debridement was 4 cm in AS group and 5.9 cm in BT group (P = 0.06). The mean EFI was statistically significant and lower in the AS group compared with BT group (P = 0.03). There were no other statistically significant differences between either intervention groups. Conclusions: Both techniques achieved comparable good to excellent results, and the differences in number of complications and ASAMI scores for bone or function were not statistically significant. Yet, it appears that the AS technique may be superior because it has a significantly lower EFI. This may not be feasible in all cases, however, because the AS technique is limited by the defect size and the condition of the surrounding soft tissues. Level of Evidence: Therapeutic Level II. See Instructions for Authors for a complete description of levels of evidence.

Level III Retrospective comparative study.

Objectives: To compare bone transport through induced membrane (BTM) and conventional bone transport (BT) regarding docking site union and infection recurrence in the management of infected long-bone defects. Design: Prospective, randomized, controlled study. Setting: Tertiary-level center. Participants: Thirty patients with infected nonunited long-bone fractures of lower limbs were included. Intervention: Fifteen patients were treated by BTM in group A, and 15 patients were treated by BT in group B. Outcome Measurements: The outcome measures were external fixation time, external fixation index, and docking time. Bone and functional outcomes were evaluated by the Association for the Study and Application of the Method of Ilizarov scoring system. Postoperative complications were evaluated according to the Paley classification. Results: The mean docking time was significantly lower in the BTM group than in the BT group (3.6 ± 0.82 months vs. 4.8 ± 0.86 months, respectively; P value 0.001). Docking site nonunion and infection recurrence were significantly lower in the BTM group than in the BT group (0% vs. 40%; P value 0.02 and 0% vs. 33.3%; P value 0.04, respectively), with no significant difference in the external fixation index (P value 0.08). Conclusions: This is the first prospective, randomized, controlled study comparing BTM and BT techniques, showing that BTM had significantly faster docking site union, lower incidence of postoperative complications including docking site nonunion and infection recurrence rates, and lower number of additional procedures needed at the expense of 2-staged operation in comparison with BT. Level of Evidence: Therapeutic Level I. See Instructions for Authors for a complete description of levels of evidence.

Neurodegenerative disorders (NDs) are rare multifactorial disorders characterized by dysfunction and degeneration of synapses, neurons, and glial cells which are essential for movement, coordination, muscle strength, sensation and cognition. It may also be associated with neuroinflammation and oxidative stress. Several genes have been identified underlying the different forms. Herein, we describe seven patients from 6 Egyptian families. The core clinical features of our patients included dysmorphic features, neurodevelopmental delay or regression, gait abnormalities, skeletal deformities, visual impairment, and seizures. Previously unreported clinical phenotypic findings were recorded. Whole-exome sequencing (WES) was performed followed by in silico analysis of the detected genetic variants effect on the protein structure. Three novel variants were identified in three genes “MFSD8 (CLN7), AGTPBP1, and APTX” and other previously reported three variants have been detected in “TPP1, AGTPBP1 and PCDHGC4” genes. In this cohort, we described the detailed unique phenotypic characteristics in view of the identified genetic profile in patients with ND disorders, hence expanding the mutational spectrum of such disorders.