Combination Of Defects Research Articles

QUANTUM DEFECT APPROXIMATION IN THEORY OF RADIATIVE TRANSITIONS IN SPECTRUM OF Li-LIKE CALCIUM

The combined relativistic quantum defect approximation and relativistic many-body perturbation theory with the zeroth order optimized approximation are applied to studying the Li-like calcium oscillator strengths of radiative transitions from ground state to the Rydberg states. New element in our scheme is an implementation of optimized relativistic quantum defect approximation to an energy approach frames. Comparison of calculated oscillator strengths with available theoretical and experimental (compillated) data is performed and a number of oscillator strengths are presented firstly.

Time-Varying and Multiresolution Envelope Analysis and Discriminative Feature Analysis for Bearing Fault Diagnosis

This paper presents a reliable fault diagnosis methodology for various single and multiple combined defects of low-speed rolling element bearings. This method temporally partitions an acoustic emission (AE) signal and selects a portion of the signal, which contains intrinsic information about the bearing failures. This paper then performs frequency analysis for the selected time-domain AE signal by using multilevel finite-impulse response filter banks to obtain the most informative subband signals involving abnormal symptoms of the bearing defects. It does this by using a 2-D visualization tool that represents the percentage of the Gaussian-mixture-model-based residual component-to-defect component ratios via time-varying and multiresolution envelope analysis (TVMREA). Then, fault signatures in the time and frequency domains are extracted in the informative subband signals. Since all the extracted fault features may not be equally useful for diagnosis, the proposed genetic algorithm (GA)-based discriminative feature analysis (GADFA) selects the most discriminative subset of fault signatures. In experiments, single and multiple combined bearing defects under various conditions are used to validate the effectiveness of this fault diagnosis scheme using TVMREA and GADFA. Experimental results indicate that this reliable fault diagnosis methodology accurately identifies bearing failure type across a variety of conditions. In addition, GADFA outperforms other state-of-the-art feature analysis techniques, yielding 7.3%–46.6% performance improvements in average classification accuracy.

Essential Roles of the Smc5/6 Complex in Replication through Natural Pausing Sites and Endogenous DNA Damage Tolerance

SummaryThe essential functions of the conserved Smc5/6 complex remain elusive. To uncover its roles in genome maintenance, we established Saccharomyces cerevisiae cell-cycle-regulated alleles that enable restriction of Smc5/6 components to S or G2/M. Unexpectedly, the essential functions of Smc5/6 segregated fully and selectively to G2/M. Genetic screens that became possible with generated alleles identified processes that crucially rely on Smc5/6 specifically in G2/M: metabolism of DNA recombination structures triggered by endogenous replication stress, and replication through natural pausing sites located in late-replicating regions. In the first process, Smc5/6 modulates remodeling of recombination intermediates, cooperating with dissolution activities. In the second, Smc5/6 prevents chromosome fragility and toxic recombination instigated by prolonged pausing and the fork protection complex, Tof1-Csm3. Our results thus dissect Smc5/6 essential roles and reveal that combined defects in DNA damage tolerance and pausing site-replication cause recombination-mediated DNA lesions, which we propose to drive developmental and cancer-prone disorders.

Altered cerebellum development and impaired motor coordination in mice lacking the Btg1 gene: Involvement of cyclin D1

Cerebellar granule neurons develop postnatally from cerebellar granule precursors (GCPs), which are located in the external granule layer (EGL) where they massively proliferate. Thereafter, GCPs become postmitotic, migrate inward to form the internal granule layer (IGL), further differentiate and form synapses with Purkinje cell dendrites.We previously showed that the Btg family gene, Tis21/Btg2, is required for normal GCP migration. Here we investigated the role in cerebellar development of the related gene, Btg1, which regulates stem cell quiescence in adult neurogenic niches, and is expressed in the cerebellum.Knockout of Btg1 in mice caused a major increase of the proliferation of the GCPs in the EGL, whose thickness increased, remaining hyperplastic even after postnatal day 14, when the EGL is normally reduced to a few GCP layers. This was accompanied by a slight decrease of differentiation and migration of the GCPs and increase of apoptosis. The GCPs of double Btg1/Tis21-null mice presented combined major defects of proliferation and migration outside the EGL, indicating that each gene plays unique and crucial roles in cerebellar development. Remarkably, these developmental defects lead to a permanent increase of the adult cerebellar volume in Btg1-null and double mutant mice, and to impairment in all mutants, including Tis21-null, of the cerebellum-dependent motor coordination. Gain- and loss-of-function strategies in a GCP cell line revealed that Btg1 regulates the proliferation of GCPs selectively through cyclin D1. Thus, Btg1 plays a critical role for cerebellar maturation and function.

Long-Term Follow-Up of the Repair of the Multiple-Branch Facial Nerve Defect Using Acellular Nerve Allograft

To assess the clinical efficacy of the repair of facial nerve defects by allograft transplantation using acellular facial nerves. Seven patients with facial nerve defects, ranging from damage to 1 facial nerve branch to combined defects of all branches, were enrolled. Defects ranged from 3 to longer than 4cm. All defects were repaired by transplantation of acellular facial nerve allografts. Static and dynamic symmetry and facial expressions were evaluated using the House-Brackmann classification and the functional status of the facial nerve was assessed electromyographically. No patient received immunosuppressive therapy. All wounds healed well, with no swelling or inflammatory exudation. The patients recovered facial nerve function to various extents. Six months postoperatively, 4 of 7 patients showed static facial asymmetry. Twelve months postoperatively, 3 patients had static facial asymmetry with normal eye closure, and only careful observation could detect slight asymmetry of forehead movement. Two of 7 patients showed moderate facial nerve dysfunction. Ipsilateral facial movement and facial asymmetry were obvious in the patient whose defect affected the common trunk and all facial nerve branches. Two years postoperatively, 5 of 7 patients had mild facial nerve dysfunction, with symmetric faces and incomplete eye occlusion. Six years postoperatively, these patients continued to show symmetric faces and incomplete ipsilateral eye occlusion, but facial muscle function was considerably restored. Follow-up electromyography showed neurologic recovery in all patients. The repair of a facial nerve defect by transplantation of an acellular facial nerve allograft is feasible.

Mode of delivery after obstetric anal sphincter injury

ObjectiveTo assess the effect of vaginal delivery and caesarean section on faecal symptoms and structure and function of anal sphincter in women who sustained obstetric anal sphincter injuries (OASIS) in their previous pregnancy and were advised about the mode of delivery based on faecal incontinence symptoms, anal manometry and endoanal ultrasound. Study designIt is a descriptive study on a cohort of women who had OASIS from 2006 to 2013. They were assessed after OASIS and during subsequent pregnancy with a questionnaire, endoanal ultrasound and anal manometry. Vaginal delivery was recommended to asymptomatic women with normal investigations. Elective caesarean section was recommended to women with faecal symptoms, anal sphincter defects of more than 30° or low resting or incremental anal pressures. All women were reassessed after subsequent delivery. ResultsFifty women who had pregnancies after OASIS, were seen after OASIS, during subsequent pregnancy and after the second delivery. 15 women had faecal symptoms after OASIS. The external, internal and combined anal sphincter defects were seen in 13, 11 and 9 women respectively. Low resting and incremental pressure were seen in 15 and 11 women respectively. Caesarean section was done in 22 women and 28 women delivered vaginally. Worsening of faecal symptoms and reduction in anal pressures were not observed in planned vaginal delivery or elective caesarean section groups. Faecal symptoms were worse with reduced anal pressures in three women from the planned caesarean section group. One of the women had a vaginal delivery and two women had emergency caesarean section at 7cm and 10cm dilatation. There were no new sphincter defects or recurrent OASIS in any of the women in the study group. ConclusionDecision about the mode of delivery of pregnancy after OASIS based on symptoms, anal manometry and endoanal ultrasound helps in preserving the anal sphincter function and avoiding unnecessary caesarean sections. Further follow-up of these patients is essential to evaluate the long-term effects of this decision.

BMP-2, PDGF-BB, and bone marrow mesenchymal cells in a macroporous β-TCP scaffold for critical-size bone defect repair in rats

The aim of this work was to study the bone repair induced by bone morphogenetic protein-2 (BMP-2), rat mesenchymal stem cells (rMSCs), and platelet-derived growth factor (PDGF-BB) incorporated in a macroporous beta-tricalcium phosphate (β-TCP) system fabricated by robocasting, and to identify the most beneficial combination in a critical rat calvaria defect. BMP-2 was formulated in microspheres to provide a prolonged, local concentration, whereas PDGF-BB, which acts during the initial stage of defect repair, was incorporated in a thin layer of crosslinked alginate. Approximately 80% of PDGF-BB and 90% of BMP-2 were released into the defect during the first 2 d and 3 weeks, respectively. Histological analyses indicated a minor synergistic effect in the BMP-2-MSC groups. In contrast, significant antagonism was found with combined BMP-2 and PDGF-BB defect treatment. The high-grade repair induced by BMP-2 rules out any advantage from combining BMP-2 with PDGF-BB or MSCs, at least with this scaffold and defect model.

The Effects of Latarjet Reconstruction on Glenohumeral Instability in the Presence of Combined Bony Defects

Objectives:Recurrent glenohumeral instability is often as a result of underlying bony defects in the glenoid and/or humeral head. Anterior glenoid augmentation with a bone block (i.e. Latarjet) has been recommended for glenoid bone loss in the face of recurrent instability. However, no study has investigated the effect of Latarjet augmentation in the setting of both glenoid and humeral head defects (Hill-Sachs Defects (HSD)). The purpose of this study was to evaluate the stability achieved through a Latarjet procedure in the presence of combined bony defects.Methods:Eighteen fresh-frozen cadaveric specimens were tested at all combinations of glenohumeral abduction (ABD) angles of 20°, 40°, and 60° and three external rotation (ER) levels (0°, 40°, and 80°). Each experiment comprised of anterior dislocation by translating the glenoid under a 50N medial load applied on the humerus, simulating the static load of soft tissues. Translational distance and medial-lateral displacement of the humeral head, along with horizontal reaction forces were recorded for every trial. Specimens were tested in an intact condition (no defect), different combinations of defects, and with Latarjet augmentation. The Latarjet was performed for 20% and 30% glenoid defects by transferring the specimen's coracoid process anterior to the glenoid flush with the articulating surface. Four different humeral head defects were created of sizes 6%, 19%, 31%, and 44% of humeral diameter. Repeated measures analysis of variance (ANOVA) was performed with statistical significance set at p <0.05.Results:Results are summarized in Fig. 1. The vertical axis represents the normalized distance to dislocation with respect to the values of the intact joint. The horizontal axis represents the varying sizes and combinations of bony defects. At 20° ABD and 0°ER, increasing HSD size did not affect percentage of intact translation with a constant glenoid defect of 20% before and after Latarjet augmentation (Fig. 1A). However, at an arm position of 60° ABD and 80° ER increasing HSD size led to a decrease in stability for both the defect state and post-Latarjet trials (Fig. 1B). Nevertheless, Latarjet augmentation helped in regaining stability for every combination of bony defects. With a HSD size of 44% the defect state had 0% intact translation for all 18 specimens.Conclusion:Clinically, these results demonstrate that some degree of stability can be regained for combined bony Bankart and Hill-Sachs defects with a Latarjet procedure. However, for humeral defects larger than 30%, the rotational effect of the HSD led to persistent instability. Thus, directly addressing the humeral defect to restore the articular surface should be considered in these cases. In conclusion, this study demonstrated that Latarjet procedure can restore the stability for combined defects, however for humeral defects greater than 31% may need attention.

Loss of Anterior Stability of Shoulder Across a Range of Motion Due to Combined Bony Defects: A Cadaveric Study

Objectives:Previous studies have analyzed only the effects of isolated glenoid or humeral head defects at limited arm positions. Literature data also suggests that instability might vary for envelop of motion. The aim of this study was to evaluate the effect of combined bony lesions on shoulder instability through varying glenohumeral positions. We hypothesized that the shoulder stability would significantly decrease with increasing defect size, and in the presence of combined defects. Furthermore, instability secondary to a humeral head defect will be magnified at functional arm positions.Methods:All experiments were performed at glenohumeral abduction angles (ABD) of 20°, 40°, and 60° and external rotations (ER) of 0°, 40°, and 80° for 18 specimens. Each experiment comprised of translating the glenoid in a posterior direction in order to cause an anterior dislocation under a 50N load. Translational distance of the glenoid and medial-lateral displacement of the humeral head, along with horizontal reaction force were recorded for every trial. Since it was not possible to test every defect combination in a single specimen, three different pathways were chosen (4 levels of glenoid defect and 5 levels of humeral defect) to maximize defect combinations. The sizes of humeral head lesions and glenoid defect were chosen similar to previous studies.Results:At 60° ABD and 80° ER, stability decreased from 100% to 85.2% and 73.7 % with isolated glenoid defect sizes of 10% and 20%, respectively. A combination of a 44% humeral head defect with 20% and 30% glenoid defect resulted in 1.6% and 1.4% intact translation, respectively. At 20° ABD and 0° ER, % intact translations were 69.0 ± 9.7, 64.3 ±12.9, 64.9 ± 11.1, 66.7 ± 8.8, 69.3 ± 13.9 for humeral defect sizes of 0%, 6%, 19%, 31%, 44% with a 20% glenoid defect, respectively. However, at a functional position of 60° ABD and 80° ER these values were significantly different (p < 0.05) for humeral head defects of size 19%, 31%, and 44% with translation values of 48.6 ± 24.2, 26.6 ± 25.2, and 1.6 ± 3.6, respectively. The % intact translation values for glenoid defects sizes 20% and 30% were significantly different (p < 0.05) for all arm positions. Combination of a smaller 6% humeral defect with increasing glenoid defects of size 0%, 10%, 20% and 30% has translation values 103.0 ± 2.9, 82.6 ± 16.4, 65.2 ± 12.9, and 40 ± 20.7, respectively. These values were similar at different arm positions.Conclusion:This study demonstrated that a smaller glenoid defect size of 10% combined with a 19% humeral head defect, can lead to a significant instability. Additionally, it was shown that a significant glenoid defect would lead to loss of translation independent of changes in the arm position. However, the loss of stability from a humeral head defect would lead to loss of translational stability significantly at a functional arm position of increased abduction and external rotation rather than a resting arm position. This rotational dependency of a humeral head defect further leads to a magnified instability during combined defects.

Calvarial Bone Grafting for Three-Dimensional Reconstruction of Severe Maxillary Defects: A Case Series.

To evaluate the efficacy, associated morbidity, and results of a three-dimensional reconstruction technique for repairing severe defects of the maxilla using a calvarial autogenous bone graft and a soft tissue double-layered surgical approach in preparation for placing dental implants. Bone defects of the maxilla consecutively reconstructed with calvarial autologous graft in the authors' institution were retrospectively evaluated. Patients with combined maxilla alveolar ridge defects with a width less than 4 mm and a height less than 7 mm (to the level of the maxillary sinus or the nostril), with at least three teeth involved, were included in the study. Calvarial bone blocks were sagittally sectioned in fine layers and fixed three-dimensionally in a boxlike structure with particulate bone inside. The purpose was to obtain an adequate amount of vertical and horizontal alveolar bone to enable restoration with dental implants at least 3.4 mm in diameter and 11 mm in length. Eleven reconstructive procedures were performed in 10 patients. Bone graft integration was successful in all of them. No major complications were observed in the donor cranial site. A mean bone gain of 5.04 mm (range, 3.4 to 7.8 mm) in height was obtained (standard deviation [SD], 1.69). The implant surgery was performed between the 15th and 19th weeks. A total of 28 implants were placed, and the mean follow-up time was 45 months (range, 23 to 65 months; SD, 12). The mean graft vertical resorption was 0.78 mm (range, 0.50-1.50 mm; SD, 0.00) 41 months after implant fixation. Three-dimensional reconstruction technique using calvarial bone grafts to restore severe segmental or crestal bone defects in the maxilla is an effective and predictable procedure that can increase the horizontal and vertical bone volume in preparation for the successful placement of dental implants.

RSC Chromatin-Remodeling Complex Is Important for Mitochondrial Function in Saccharomyces cerevisiae.

RSC (Remodel the Structure of Chromatin) is an ATP-dependent chromatin remodeling complex essential for the growth of Saccharomyces cerevisiae. RSC exists as two distinct isoforms that share core subunits including the ATPase subunit Nps1/Sth1 but contain either Rsc1or Rsc2. Using the synthetic genetic array (SGA) of the non-essential null mutation method, we screened for mutations exhibiting synthetic growth defects in combination with the temperature-sensitive mutant, nps1-105, and found connections between mitochondrial function and RSC. rsc mutants, including rsc1Δ, rsc2Δ, and nps1-13, another temperature-sensitive nps1 mutant, exhibited defective respiratory growth; in addition, rsc2Δ and nps1-13 contained aggregated mitochondria. The rsc2Δ phenotypes were relieved by RSC1 overexpression, indicating that the isoforms play a redundant role in respiratory growth. Genome-wide expression analysis in nps1-13 under respiratory conditions suggested that RSC regulates the transcription of some target genes of the HAP complex, a transcriptional activator of respiratory gene expression. Nps1 physically interacted with Hap4, the transcriptional activator moiety of the HAP complex, and overexpression of HAP4 alleviated respiratory defects in nps1-13, suggesting that RSC plays pivotal roles in mitochondrial gene expression and shares a set of target genes with the HAP complex.

A clinical case of single-stage correction of penetration combined orofacial defect with two microsurgical autografts

After surgical treatment for locally advanced oral tumors with resection of soft tissues, mucosal membrane, and facial skeletal structures, there are penetration combined defects, removal of which is a challenge for reconstructive surgeons. Mandibular repair is one of the problems in the correction of combined oral defects. Surgeons use different grafts to remove mandibular defects. One-flap transplantation does not always solve all reconstruction problems and ensure the repair of the mucosal membrane, a soft-tissue component, skin integuments, and facial skeleton. The authors describe a clinical case of successful single-stage correction of penetration combined orofacial defect after resection of the tongue, mouth floor, en bloc resection of the lower jaw and mental soft tissues, bilateral cervical supramyochoroidal lymphadenectomy, stage LCL CM mandibular defect formation after J. Boyd, by using two microsurgical autografts (a peroneal skin-muscle-skin autograft and a radial skin-fascia one) in a 39-year-old female patient clinically diagnosed with carcinoma of the left mandibular alveolar ridge mucosa, Stage IVA (T4аN0M0). The Department of Microsurgery, P.A. Herzen Moscow Oncology Research Institute, Ministry of Health of Russia, has gained experience in comprehensively correcting extensive combined maxillofacial defects with two or more grafts in 27 patients who underwent autografting with a total of 73 flaps. The most functionally incapacitating and life-incompatible defect was removed at Stage 1 of reconstructive treatment. Delayed reconstruction was made after a complex of specialized antitumor therapy and assessment of treatment results in the absence of progressive growth. A great problem during multi-stage defect correction is presented by the lack of recipient vessels after cervical lymphadenectomy, the presence of soft tissue scar changes, trismus, temporomandibular joint ankylosis, contractures and displacement of the edges of the resected mandible, and autografting into the chronically infected area. Single-stage repair, including that using a few microsurgical autografts, is the operation of choice for adequate anatomic and functional rehabilitation, permits the promptest recovery of patients, reduces a postoperative period, and allows them to undergo an antitumor treatment cycle. However, the repair is possible, when the risk of disease progression is low, in specialized centers and when there are trained head and neck surgery and reconstructive microsurgery specialists and anesthesiologists.

CIRPLAST: Cleft Lip and Palate Missions in Peru.

The author presents a 20-year experience leading cleft lip and palate surgical volunteer missions in Peru for CIRPLAST, a nonprofit volunteer plastic surgery goodwill program that has provided free surgery for patients with cleft lip and palate deformities in remote areas of Peru. Surgical procedures were performed by the author, together with a group of experienced plastic surgeons, under the auspices of the Peruvian Plastic Surgery Society, and local health authorities. CIRPLAST missions are scheduled annually in different locations around Peru. Selected patients for surgery after adequate screening are photographed, and their cleft deformity is recorded. Scheduled patients or their parents, when they are minors, sign an informed consent form. Patients operated on in any given day are examined and photographed 1 day after surgery, before discharge. Between 30 and 35 patients are operated on at each mission site. About 2 weeks after the mission, patients are checked and photographed, and the outcome of surgery is recorded. Complications that may occur are recorded and treated by the CIRPLAST team as soon as possible. Almost all operations are performed under general endotracheal anesthesia coupled by local anesthesia containing a vasoconstrictor, to reduce bleeding and facilitate tissue dissection. All wounds of the lip and palate are closed with absorbable sutures, to avoid the need for suture removal. After cleft lip surgery, patients go to the recovery room for monitoring by nurses until they recover completely. A total of 6108 cleft lip and palate repairs, primary and secondary, were performed by CIRPLAST in 141 missions, between May 12, 1994, and October 15, 2014. The medical records of the 5162 patients (84.5%) who returned for follow-up (ranging from 12 days to 9 years) were reviewed retrospectively. Between 45% and 70% of the patients operated on a mission have returned for early follow-up and some the following year. There were 3176 males (51.9%) and 2932 females (48.1%). The incidence of isolated lip clefts was 1546 patients (25.3%); of isolated palate clefts, 2223 patients (36.4%); and combined defects, 2339 patients (38.3%). Of the 5162 patients who returned for follow-up, 377 patients (7.3%) had complications. Lip wound dehiscence was present in 58 patients (15.4). Palate fistula formation in 33 patients (8.8%): 24 (6.4%) after primary palate closure, and 9 (2.4%) after previous fistula closure. Infection occurred in 37 cleft lip patients (9.8%). Hypertrophic lip scars were seen in 56 patients (14.9%). Bleeding occurred in the recovery room after palatoplasty in 48 patients (12.7%), and in most cases, it was contained by applying pressure. No blood transfusions were used. Residual deformities of varying degree of the nose and/or lip occurred in 145 patients (38.5%). All required reoperation for correction. There were no intraoperative deaths in this series. During the past 20 years, the CIRPLAST team has offered free surgery with good outcomes and few complications, to more than 6000 cleft lip and/or palate patients in remote areas of Peru.

Enhanced Flux Pinning Properties in $\hbox{YBa}_{2}\hbox{Cu}_{3}\hbox{O}_{7-\delta}$/ $(\hbox{CoFe}_{2}\hbox{O}_{4})_{0.3}(\hbox{CeO}_{2})_{0.7} $ Multilayer Thin Films

A combined defect and magnetic pinning effect has been demonstrated in this work for improving critical current density $(J_{c})$ of $\hbox{YBa}_{2}\hbox{Cu}_{3}\hbox{O}_{7-\delta} $ (YBCO) thin films. Most of the previous work has focused on either defect pinning or magnetic pinning. In this work, we introduced a unique nanocomposite with two phases, e.g., ferrimagnetic $\hbox{CoFe}_{2}\hbox{O}_{4}$ and non-magnetic $\hbox{CeO}_{2}$ . As a demonstration, the composition of $(\hbox{CoFe}_{2}\hbox{O}_{4})_{0.3}(\hbox{CeO}_{2})_{0.7} $ was chosen for this study. The nanocomposite was incorporated into YBCO films as multilayers, i.e., 1-, 2-, and 4-interlayers. A detailed study on the microstructural and superconducting properties was conducted. The results show that the critical temperature remains at $\sim$ 90 K even after introducing interlayers. More importantly, the films with interlayers show enhanced self-field and in-field $J_{c}$ , especially the 2-interlayer sample with $J_{c}^{sf}$ of 6.36 $\hbox{MA/cm}^{2}$ at 77 K. The enhanced $J_{c}$ properties are attributed to both magnetic pinning from $\hbox{CoFe}_{2}\hbox{O}_{4}$ and defect pinning from $\hbox{CeO}_{2}$ , as well as the well-designed pinning landscapes.

Histopathological evaluation of the osteogenic activity of autologous platelet-rich plasma in experimentally induced ulna defect in dogs

Variety of products and surgical approaches to stimulate biologic factors and promote osteogenesis have been developed over the years, but surgeons still face challenges relating to bone healing. This study was designed to evaluate the histopathologic effects of autologous platelet-rich plasma and cancellous bone grafts on caudolateral ulna ostectomy of Nigerian local dogs. Twelve healthy Nigerian indigenous dogs (males) were used for the study. They were randomly grouped into four viz: platelet-rich plasma-treated group (PRPG) (n = 3), cancellous bone graft-treated group (CBG) (n = 3), platelet-rich plasma/cancellous bone graft-treated group (PRP/CBG) (n = 3), and normal saline-treated control group (CG) (n = 3). Caudolateral ulna defects were created on the left ulna of each dog under general anesthesia and treated as follows: the PRPG were treated by application of autologous PRP on the defects prior to closure, the PRP/CBG defects were treated by applying both PRP and cancellous bone grafts on the defects, and CBG was treated with autologous cancellous bone grafts alone while the control defects were treated by applying normal saline on the defects prior to closure of the soft tissues. Animals were euthanized at week 10 and the bridging callus of the defects analyzed by histopathology. The PRP defects either in combination with cancellous bone grafts or alone demonstrated more matured lamella bone compared to the CBG and control defects. The control defects were characterized with fibrocartillagenous zones of intense cellular activities mainly of chondroblasts and oeteoblasts. The mean histologic indices of the PRPG and PRP/CBG defects varied significantly (p < 0.05) with the CBG and the control defects. The results showed that the PRP has a positive osteogenic effect in treatment of caudolateral ulna ostectomies of dogs but its activity was optimal when combined with autologous cancellous bone grafts.

Microsurgical reconstruction of combined tracheal and total esophageal defects

Lesions involving both the trachea and the esophagus are often considered inoperable because of thelack of reliable reconstruction. The purpose of this study was to review our experience of combined supercharged jejunal and other flaps for tracheal and esophageal reconstruction. A retrospective review of 5 consecutive cases with combined tracheal and total esophageal defects was performed. The esophageal defect was reconstructed with a supercharged jejunal flap, and the trachea was reconstructed with a free anterolateral thigh flap or a pedicled muscle flap. Primary diagnosis included tracheostoma recurrence after a total laryngectomy for laryngeal cancer in 2 patients and tracheoesophageal fistula due to esophageal stenting for complications from prior treatment for non-Hodgkin's lymphoma, parathyroid cancer, and esophageal cancer in 3 patients, respectively. Tracheal and esophageal reconstructions were staged in 4 patients, and 1 patient received simultaneous reconstruction. Tracheal necrosis developed in 1 patient with a mediastinal tracheostoma, and the patient eventually died of infection 2months later. The other 4 patients recovered well and resumed an oral diet. Complex and often life-threatening lesions involving both the trachea and the esophagus are not necessarily inoperable. With careful planning, these combined defects can be safely reconstructed with multiple flaps with good functional outcomes and reasonable survival.

Expanded Indications for the Deep Plane Cervicofacial Flap

The deep plane cervicofacial (DPCF) rotation advancement flap has been well described for coverage of cheek and lower eyelid defects. The extension of this flap for coverage of complex combined temporofrontal and brow defects has not been previously described. The primary investigator (E.L.C.) performed a chart review of all 7 DPCF flaps performed for reconstructive purposes at the University of Texas Medical Branch, Galveston, Tex, from November 2011 through August 2012. Three patients with complex combined temporal and brow defects were identified. Three patients underwent coverage of complex combined temporofrontal and brow defects using the DPCF flap. Adequate coverage was provided with good skin color match. No flap loss or tip necrosis was seen, despite immediate excision of the resulting cheek standing cone deformity in 2 of the 3 patients at the time of reconstruction. All patients had suture fixation of the DPCF flap to cheek periosteum. All had none or mild lateral canthal distortion, with less than 1 mm of asymptomatic ectropion at a minimum follow-up of 4 months. The DPCF flap is a safe, effective, and reliable means to provide coverage for complex combined temporofrontal and brow defects. The deep plane elevation and musculocutaneous blood supply may improve flap mobility, viability, and resistance to tension. The standing cone deformity resulting from flap advancement can be primarily excised without risking flap necrosis. With further study, indications for the DPCF flap may include adjacent areas of the face currently being reconstructed using other means.

PP03.2 – 2683: Next generation sequencing allows the identification of NDUFS4 defect in a patient with fatal early Leigh syndrome and deficiencies in pyruvate dehydrogenase and multiple respiratory chain complexes

Objective Respiratory chain complex (RCC) I is the second most common biochemical abnormality causing Leigh syndrome (LS), an early-onset neurodegenerative disorder. NDUFS4 gene presents a hotspot of mutations leading to an inappropriate assembly of complex I. Our aim was to describe a 67-days-old female presenting with severe hypotonia, abnormal eye movements, lethargy, seizures and respiratory failure leading to death on day 5 of evolution. Plasma lactate was 5.83 mmol/L and amino acids and organic acids were normal. MRI showed swelling lesions in the basal ganglia and brainstem with restricted diffusion and a lactate peak on MRS. Methods Pyruvate dehydrogenase (PDH) and oxidation-reduction activity assays were performed in fibroblasts and muscle. Spectrophotometric assays of RCC were performed in muscle. Genetic analysis of nuclear genes involved in mitochondrial disorders was assessed by targeted exome sequencing using the TruSight One Sequencing Panel (Illumina). Results The patient showed a significative reduction in PDH activity in fibroblasts and muscle, with values of 0.22 mmol/min*mg prot (normal values 0.34–2.6) and 0.5 mmol/min*mg prot, (normal values 0.8–3.4) respectively, and reduced oxidation of pyruvate in fibroblasts. Muscle analysis of RCC showed a 50% reduction in the residual activity of CI and CIII compared to control. Muscle Q10 was low when related to cytrate synthase (2.18 nmol/U CS, reference values 2.7–8.4). Massive sequencing revealed a previously described homozygous mutation c.291delG (p. Trp97Ter) in NDUFS4 gene, which was further confirmed by Sanger sequencing. No disease-causing mutations were detected in the PDHc genes. Conclusion NDUFS4 defect in our patient led to a rapidly progressive and fatal Leigh encephalopathy in the second month of life. A combined defect in pyruvate metabolism and respiratory chain complexes was misleading; probably, mild Q10 deficiency was secondary to inappropriate assembly of complex I. Finally, NGS techniques allowed genetic diagnosis in our patient.

RECONSTRUCTIVE PLASTIC SURGERIES IN PATIENTS WITH MALIGNANCIES OF TONGUE AND FLOOR OF THE MOUTH. TYPES OF PLASTICS

Issues of tissue defects replacement after radical surgery for tumors of the head and neck do not lose their relevance. The article presents the results of plastics and replacement of the perforating combined defects of the floor of the mouth, portion of the upper and lower lips, the angle of the mouth, cheeks, neck lateral parts with simultaneous reduction of the configuration and function of the operated organs. Depending on the depth and nature of the existing tissue defect various methods of plastics were applied using arterialized flaps on the vascular pedicle in a free and non-free version. Satisfactory cosmetic and functional results were achieved in patients allowing to improve life quality and to adapt socially.

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

FBXL4 deficiency is a recently described disorder of mitochondrial maintenance associated with a loss of mitochondrial DNA in cells. To date, the genetic diagnosis of FBXL4 deficiency has been established in 28 individuals. This paper retrospectively reviews proxy-reported clinical and biochemical findings and evaluates brain imaging, morphological and genetic data in 21 of those patients. Neonatal/early-onset severe lactic acidosis, muscular hypotonia, feeding problems and failure to thrive is the characteristic pattern at first presentation. Facial dysmorphic features are present in 67% of cases. Seven children died (mean age 37 months); 11 children were alive (mean age at follow-up 46 months), three children were lost to follow-up. All survivors developed severe psychomotor retardation. Brain imaging was non-specific in neonates but a later-onset, rapidly progressive brain atrophy was noted. Elevated blood lactate and metabolic acidosis were observed in all individuals; creatine kinase was elevated in 45% of measurements. Diagnostic workup in patient tissues and cells revealed a severe combined respiratory chain defect with a general decrease of enzymes associated with mitochondrial energy metabolism and a relative depletion of mitochondrial DNA content. Mutations were detected throughout the FBXL4 gene albeit with no clear delineation of a genotype-phenotype correlation. Treatment with "mitochondrial medications" did not prove effective. In conclusion, a clinical pattern of early-onset encephalopathy, persistent lactic acidosis, profound muscular hypotonia and typical facial dysmorphism should prompt initiation of molecular genetic analysis of FBXL4. Establishment of the diagnosis permits genetic counselling, prevents patients undergoing unhelpful diagnostic procedures and allows for accurate prognosis.