Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog

The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct morphology and combination of AVCD features in some of these syndromes is reminiscent of the cardiac phenotype found in heterotaxy, a malformation complex previously associated with functional cilia abnormalities and aberrant Hedgehog (Hh) signaling. Hh signaling coordinates multiple aspects of left-right lateralization and cardiovascular growth. Being active at the venous pole the secondary heart field (SHF) is essential for normal development of dorsal mesenchymal protrusion and AVCD formation and septation. Experimental data show that perturbations of different components of the Hh pathway can lead to developmental errors presenting with partially overlapping manifestations and AVCD as a common denominator. We review the potential role of Hh signaling in the pathogenesis of AVCD in different genetic disorders. AVCD can be viewed as part of a "developmental field," according to the concept that malformations can be due to defects in signal transduction cascades or pathways, as morphogenetic units which may be altered by Mendelian mutations, aneuploidies, and environmental causes

Evaluation of 4 Outcomes Measures in Microtia Treatment: Exposures, Infections, Aesthetics, and Psychosocial Ramifications.

BackgroundIn craniofacial microsomia, microtia and canal atresia pose formidable reconstructive challenges. We review our institutional experience in treating microtia and atresia to identify variables associated with 4 outcomes measures: complications, surgical revisions, aesthetic outcomes, and psychosocial function.MethodsCraniofacial microsomia patients treated at the University of California Los Angeles Craniofacial Clinic between 2008 and 2014 greater than 13 years of age (n = 68) were reviewed for microtia and atresia treatment and outcomes.ResultsIn total, 91.2% of patients diagnosed with craniofacial microsomia presented with microtia, affecting 75 ears. Both a male and right-sided predominance were observed. Fifty-six patients (90.3%) underwent autologous external ear reconstruction at an average age of 8.5 years. Age, type of incision, and size of cartilage framework did not predict total number of surgeries or complications. Severity of ear anomalies correlated with increased number of surgeries (P < 0.001) and decreased aesthetic outcomes (P < 0.001) but not complications. In total, 87.1% of patients with microtia had documented hearing loss, of which the majority were conductive and 18.5% were mixed sensorineural and conductive. Hearing deficits were addressed in 70.4% of patients with external hearing aids, bone anchored hearing aids, or canaloplasty. Of all variables, improvement of psychosocial function was correlated only to hearing loss treatment of any type (P = 0.01).ConclusionsOn evaluation of surgical and patient characteristics, severity of microtia predicted the total number of surgical revisions performed and aesthetic ratings. In addition, we found that the only factor that correlated with improved patient and parent-reported psychosocial outcomes was treatment of hearing loss

Efficacy and safety of VEPTR instrumentation for progressive spine deformities in young children without rib fusions

This retrospective study analyses 23 children treated with vertical expandable prosthetic titanium rib (VEPTR) for correction of non-congenital early onset spine deformities. After the index procedure (IP), the device was lengthened at 6-month intervals. The average (av) age at the time of IP was 6.5years (1.11-10.5). The av follow-up time was 3.6years (2-5.8). Diagnosis included 1 early onset idiopathic scoliosis, 11 neuromuscular, 2 post-thoracotomy scoliosis, 1 Sprengel deformity, 2 hyperkyphosis, 1 myopathy and 5 syndromic. Surgeries (187) included 23 IPs, av 6.5 (4-10) device expansions per patient (149) and 15 unplanned surgeries. 23 complications (0.13 per surgery) included 10 skin sloughs, 5 implant dislocations, 2 rod breakages and 6 infections. Coronal Cobb angle was av 68° (11°-111°), at follow-up av 54° (0°-105°). Pelvic obliquity was av 33° (13°-60°), at follow-up av 16° (0°-42°). T1 tilt was av 29° (5°-84°), two remained unchanged, the remainder improved 10°-68°. Sagittal plane: All but two had stable profiles, two hyperkyphosis of 110°/124° improved to 56°/86°. Space available for lung ratio was less than 90% in ten before the IP, improved in nine and deteriorated in one. Originally designed for thoracic insufficiency syndromes related to rib and vertebral anomalies, VEPTR proved to be a valuable alternative to dual growing rods for non-congenital early onset spine deformities. The complication rate was lower, the control of the sagittal plane and the pelvic obliquity was as good, but the correction of the coronal plane deformity was less than growing rods. However, VEPTR's spine-sparing approach might provoke less spontaneous spinal fusion and ease the final correction at maturit

The antiquity of hydrocephalus: the first full palaeo-neuropathological description

The Pathology Museum of the University of Florence houses a rich collection of anatomical specimens and over a hundred waxworks portraying pathological conditions occurring in the nineteenth century, when the museum was established. Clinical and autopsy findings of these cases can still be retrieved from the original museum catalogue, offering a rare opportunity for retrospective palaeo-pathological diagnostics. We present a historical case of severe hydrocephalus backed by modern-day anthropological, radiological and molecular analyses conducted on the skeleton of an 18-month-old male infant deceased in 1831. Luigi Calamai (1796-1851), a wax craftsman of La Specola workshop in Florence, was commissioned to create a life-sized wax model of the child's head, neck and upper thorax. This artwork allows us to appreciate the cranial and facial alterations determined by 30 lb of cerebrospinal fluid (CSF) accumulated within the cerebral ventricular system. Based on the autopsy report, gross malformations of the neural tube, tumours and haemorrhage could be excluded. A molecular approach proved helpful in confirming sex. We present this case as the so-far most compelling case of hydrocephalus in palaeo-pathological research

'Clinical Triad' findings in Klippel-feil patients

E-Poster - Congenital Deformity: no. 530It has been propagated that Klippel-Feil Syndrome (KFS) is associated with the clinical triad findings (CTF) of short neck, low posterior hairline, and limited range of motion. This study noted that CTFs are not consistently noted in KFS patients. KFS patients with extensive congenitally fused cervical segments were more likely to exhibit one of the components of CTF.postprin

Selection of fusion levels in adolescent idiopathic scoliosis (AIS) using the fulcrum bending radiograph prediction: verification based on pedicle screw strategy

E-Poster - Adolescent Idiopathic Scoliosis: no. 297Utilizing the fulcrum bending radiographic technique to assess curve flexibility to aid in the selection of fusion levels, a prospective radiographic study was performed to assess the safety and effectiveness of pedicle screw fixation with alternate level screw strategy (ALSS) for thoracic AIS. This study suggests that ALSS obtains greater deformity correction than hook and hybrid systems, and improves balance without compromising fusion levels.postprin

Next generation of growth-sparing techniques: preliminary clinical results of a magnetically controlled growing rod in 14 patients

Session 3A - Early Onset Scoliosis: Paper no. 33SUMMARY: Growth-sparing techniques are commonly used for the treatment of progressive EOS. The standard growing rod (GR) technique requires multiple surgeries for lengthening. The preliminary results of MCGR has shown the comparable outcomes to standard GR without the need for repeated surgery which can be expected to reduce the overall complication rate in GR surgery. INTRODUCTION: The growing rod (GR) technique for management of progressive Early-Onset Scoliosis (EOS) is a viable alternative but with a high complication rate attributed to frequent surgical lengthenings. The safety and efficacy of a non-invasive Magnetically Controlled Growing Rod (MCGR) has been previously reported in a porcine model. We are reporting the preliminary results of this technique in EOS. METHODS: Retrospective review of prospectively collected multi-center data. Only patients who underwent MCGR surgery and at least 3 subsequent spinal distractions were included in this preliminary review. Distractions were performed in clinic without anesthesia or analgesics. T1-T12 and T1-S1 height and the distraction distance inside the actuator were analyzed in addition to conventional clinical and radiographic data. RESULTS: Patients (N=14; 7 F and 7 M) had a mean age of 8y+10m (3y+6m to 12y+7m) and underwent a total of 14 index surgeries (SR: index single rod in 5 and DR: dual rod in 9) and 91 distractions. There were 5 idiopathic, 4 neuromuscular, 2 congenital, 2 syndromic and one NF. Mean follow-up (FU) was 10 months (5.8-18.2). Mean Cobb changed from 57° pre-op to 35° post-op and correction was maintained (35°) at latest FU. T1-T12 increased by 4 mm for SR and 10 mm for DR with mean monthly gain of 0.5 and 1.39, respectively. T1-S1 gain was 4 mm for SR and 17 mm for DR with mean monthly gain of 0.5 mm for SR and 2.35 mm for DR. The mean interval between index surgery and the first distraction was 66 days and thereafter was 43 days. Complications included one superficial infection in (SR), one prominent implant (DR) and minimal loss of initial distraction in three after index MCGR (all SR). Overall, partial loss of distraction was observed following 14 of the 91 distractions (one DR and 13 SR). This loss was regained in subsequent distractions. There was no neurologic deficit or implant failure. CONCLUSION: MCGR appears to be safe and provided adequate distraction similar to the standard GR technique without the need for repeated surgeries. DR patients had better initial curve correction and greater spinal height. No major complications were observed during the short follow-up period. The FDA has not cleared the drug and/or medical device for the use described in this presentation (i.e., the drug or medical device is being discussed for an ‘off label’ use).postprin

Changes in Pulmonary Functional Parameters after Surgical Treatment of Idiopathic Scoliosis

There is a controversy in results about influence of surgery on pulmonary function in idiopathic scoliosis. The aim of the study was to study pulmonary function in severe thoracic idiopathic scoliosis and to detect changes in pulmonary function after the three-dimensional anterior surgical correction in severe thoracic scoliosis. 91 patients at the age of 16±5.1yrs underwent surgery in order to make a correction of scoliotic deformity. All the curves were greater than 70° (86±5.1). Group I consisted of 60 patients with scoliotic curves between 70° and 100°, while group II consisted of 31 patients with curves greater than 100°. All the patients were operated by anterior instrumentation and the average correction was 74%±15 for group I, and 71%±18 for group II. Vital capacity (VC) and forced expiratory volume in the first second (FEV1) in group I remained unchanged. In group II, VC improved for 11%, while forced expiratory volume (FEV) improved for 13.6%. Our conclusion is that there is a significant correlation between the percentage of achieved correction and pulmonary function