Faciocervical Group B Streptococcal Necrotising Fasciitis: a Multidisciplinary Approach Management.

Neonatal necrotising fasciitis secondary to Streptococcus agalactiae, also known as Group B Streptococcus (GBS), is a rare, life-threatening entity with approximately 40 cases reported in the literature.1 GBS soft tissue infection in infancy most commonly affects the face, likely originating from the colonised oral cavity.2 In cases unresponsive to medical management alone, early surgical debridement can be life-saving. We present a case of faciocervical GBS necrotising fasciitis in a male neonate requiring multiple surgical debridements. The resultant soft tissue defect healed with topical negative pressure therapy and eventual placement of a double-layer dermal substitute. Due to his prematurity, the patient was not skin grafted to limit donor site morbidity. After recovering from his life-threatening infection, the patient had intensive scar therapy leading to a favourable cosmetic result with no evidence of function-limiting contracture. Our report draws focus to the need for a multidisciplinary approach incorporating therapy-led scar management early in the postsurgical recovery plan.

CleftED: A National Collaborative Study of Undergraduate Education and Exposure to Cleft lip and Palate Within the United Kingdom.

INTRODUCTION: Cleft Lip and/or Palate (CLP) are the most common congenital orofacial anomalies. Those involved in CLP care may extend beyond the core members of the Cleft multidisciplinary team (MDT) with a variety of medical healthcare professionals destined to contribute to the management of CLP patients at some point during their respective careers. Therefore, it seems essential that a basic understanding of CLP, CLP-associated problems, and potential avenues for direct or indirect involvement in CLP care be introduced at undergraduate level. AIMS: To investigate penultimate and final year undergraduate medical student CLP knowledge and exposure obtained whilst at medical school. METHODOLOGY: An online questionnaire was distributed to penultimate and final year medical students throughout the UK. RESULTS: A total of 3102 responses were received from 35 medical schools. 44.3% (n = 1374) of respondents had no exposure to CLP teaching up until their current year of education. 61.3% (n = 1903) of respondents had never been involved in the care of a CLP patient. 53.6% (n = 1662) of respondents were not confident in their current knowledge of CLP. 78.5% (n = 2257) of respondents indicated a desire to be involved in the care of CLP patients in their future career. CONCLUSION: More than half of the medical student survey respondents were not confident in their current knowledge of CLP and had limited involvement in CLP care. This may translate to a delay in diagnosis when students qualify. Improving CLP education and exposure during undergraduate training can help achieve national CLP standards for early diagnosis.

Educational impact of a novel cleft palate surgical simulator: Improvement in surgical trainees' knowledge and confidence.

BACKGROUND: Trainees' experience in cleft surgery is limited due to the high-risk nature of the surgery and centralization of cleft care. Simulation training allows trainees to learn complex surgical tasks whilst ensuring patient safety. Existing cleft surgical simulators are over-simplified or prohibitively expensive. In this article, we show the development and application of a high-fidelity yet cost-effective simulator for cleft palate repair. METHODS: Skeletal elements were obtained through high-resolution scanning of a pathologic specimen, 3-dimensional printed, and then molded in plastic. Soft tissue components were formed through molding layers of silicone. The simulator was tested by 26 United Kingdom (UK) specialty trainees who performed a vomerine mucosal flap and intra-velar veloplasty in a 1-hour workshop. Pre- and post-simulation questionnaires assessing cleft knowledge and surgical confidence were compared for statistical significance. RESULTS: The simulator had high acceptability: 23/26 participants confirmed that the simulation training was a valuable learning experience. Baseline experience of cleft palate surgery was low: 24 participants had never performed any part of the procedure before. Following the workshop, mean knowledge score increased by 38%, and confidence by 53%. The paired T-test demonstrated that observed improvements in both knowledge and confidence were statistically significant (p<0.001). CONCLUSIONS: Simulation training is increasingly recognized as a crucial component of improving patient safety. Our new cost-effective cleft palate simulator has high acceptability and is a powerful educational tool that is effective in improving cleft palate surgical knowledge and confidence across all grades of surgical trainees.

The importance of neurology and genetic testing in the patient with non-cleft velopharyngeal dysfunction.

OBJECTIVE: A significant proportion of the referrals made to a speech investigation clinic in a cleft unit include patients with non-cleft velopharyngeal dysfunction (VPD). This study aims to quantify the underlying diagnoses of these patients and describe the investigative pathway and diagnostic information subsequent to presentation in our clinic. MATERIALS AND METHODS: The case notes of 136 consecutive patients with non-cleft VPD who attended our Velopharyngeal Investigation (VPI) clinic from July 2014-December 2019 were reviewed. RESULTS: In the paediatric group (n = 118) the most common cause was 22q11 chromosomal anomalies (n = 46), while post palatal tumour resection was the commonest cause of acquired non-cleft VPD in adults (n = 8). Fifty-nine patients were referred to the clinic with a known underlying pathology such as a syndromic diagnosis. Of those presenting without a known aetiology, fifty-eight were referred onto our genetics and/or neurology colleagues. Although a genetic or neurological cause could not be identified in some of those patients, thirty-one patients received a new diagnosis, with subsequent implications for ongoing care. CONCLUSION: There are a wide range of diagnoses resulting in non-cleft VPD, but there are very few large-scale studies focusing on investigating these patients for an underlying aetiology. This study highlights the role of genetics and neurology in the diagnosis and management plan for this cohort of patients.

TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype.

Holt-Oram syndrome (HOS) is a rare, autosomal dominant heart-hand syndrome caused by mutations in the TBX5 gene. A wide spectrum of TBX5 mutations have been reported previously, most resulting in a null allele leading to haploinsufficiency. TBX5 gene duplications have been previously reported in association with typical and atypical HOS phenotypes. Ulnar-Mammary syndrome (UMS) is a distinct rare, autosomal dominant condition caused by mutations in the TBX3 gene. TBX5 and TBX3 are physically linked in cis on human chromosome 12 and contiguous chromosome 12q24 deletions comprising both TBX5 and TBX3 genes have been previously reported but to our knowledge, duplications have never been described. We report on a large German family with at least 17 affected individuals over 6 generations bearing a duplication at 12q24.21 identified on array-CGH comprising both TBX5 and TBX3 genes. Affected patients are presenting with HOS and UMS symptoms, consisting of variable limb anomalies involving the radial and the ulnar rays and cardiac findings such as congenital heart defects, persistent arterial duct or aortic stenosis, and non-classical symptoms, such as supernumerary nipples and cardiomyopathy. Fluorescence in situ hybridisation confirmed a tandem duplication at the 12q24.21 locus. This is the first report of a contiguous TBX3/TBX5 duplication associated with HOS/UMS phenotype.

Robin Sequence: 5-Year Speech Outcomes-A Case-Control Study.

BACKGROUND: Pierre Robin sequence (Robin sequence) is defined as the triad of micrognathia, glossoptosis, and airway obstruction. It is frequently associated with palatal clefting. In recent years, increased interest in speech outcomes of cleft patients diagnosed with Robin sequence has been shown. METHODS: Speech outcomes of cleft patients with Robin sequence were assessed at age 5 in comparison with a cleft palate-only cohort. Speech parameters were evaluated according to the Cleft Audit Protocol for Speech-Augmented and analyzed using the National Audit Standards for Speech (United Kingdom). All patients were treated in the same institution during the same period (2005 to 2012). Subjects who needed nasopharyngeal airway support and those whose airway was managed by positioning only were eligible. RESULTS: Fifty-one cleft patients diagnosed with Robin sequence were included in this study. Outcomes were compared to those of 128 nonsyndromic cleft palate-only patients.Patients with Robin sequence were shown to present with a significantly higher rate of cleft speech characteristics in comparison to the reference cohort (p = 0.001). Furthermore, it was shown that Robin sequence is associated with a significantly higher rate of secondary speech surgery for velopharyngeal dysfunction before the age of 5 (p = 0.016). Robin sequence patients with a nasopharyngeal airway presented with a higher rate of cleft speech characteristics compared to Robin sequence patients managed with positioning only. CONCLUSION: Cleft patients with Robin sequence are more likely to need further surgery to correct velopharyngeal dysfunction before the age of 5 and are more prone to present with cleft speech characteristics at the age of 5. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.

Use of Preoperative Cervical Vascular Imaging in Patients With Velocardiofacial Syndrome and Velopharyngeal Dysfunction in the United Kingdom.

OBJECTIVE: In patients with velocardiofacial syndrome (VCFS), medial displacement of the internal carotid arteries (ICAs) may increase the risk of vascular injury during the surgical correction of velopharyngeal dysfunction (VPD). Some surgeons advocate the use of vascular imaging studies prior to surgery. Nevertheless, the role of preoperative imaging is still controversial. This study aimed to review the current practice of the UK cleft units and also examine our own practice at the Evelina London Children's Hospital in relation to children with VCFS undergoing speech surgery over the previous 7 years. DESIGN: A questionnaire was sent to all UK cleft surgeons to enquire about the management and use of preoperative vascular imaging in patients with VPD and VCFS. A retrospective study was also conducted of the unit's 7-year series of patients with VPD and VCFS. RESULTS: Thirty-four completed questionnaires were returned (response rate 100%). Most UK surgeons (73.5%) do not regularly order preoperative vascular imaging for patients with VCFS although some reportedly would consider it if a posterior pharyngeal wall pulsation was visible. In our unit, between 2013 and 2019, a total of 40 patients affected by VCFS have been assessed for VPD. A magnetic resonance angiography (MRA) was performed for 23 patients. Medial deviation of the ICAs was identified in 7 (30%) patients. CONCLUSIONS: The results of the national survey showed no consensus on routine use of preoperative vascular imaging. Our retrospective study showed a 30% prevalence of medialized ICAs in our patient cohort. In these patients, the MRA findings influenced the choice of speech surgery.

Facing The World in Vietnam: Feedback From Trainees on the Educational Value of Surgical Missions to Help Patients With Craniofacial Deformities.

BACKGROUND: Education and training of local healthcare staff is a crucial component of a surgical mission. Facing The World (FTW) is a UK-based craniofacial charity that provides facial reconstructive surgery to children with complex, craniofacial anomalies. As part of its global initiative, FTW has developed a training outreach program in Vietnam. The aim of this study was to analyze feedback data to evaluate the educational value of the training program and identify areas for improvement. METHODS: Feedback was obtained through both 5-point Likert scale and open-ended response questions on written questionnaires. Six postmission reports were reviewed, and used as a base for the content of the questionnaires. Selective sampling was used, with questionnaires distributed to all Vietnamese and UK trainees who have been part of the FTW training program. RESULTS: Seven Vietnamese trainee questionnaires were completed, a response rate of 87.5%. Twelve UK trainees completed the feedback questionnaire, giving a response rate of 85.7%. One hundred percent of local trainees and 83.3% of UK trainees found the training program to be useful or very useful, with no trainees deeming the training program not useful or of no use at all. CONCLUSION: The training missions offered by FTW have successfully provided education to both UK and Vietnamese surgeons in Craniofacial surgical techniques and patient care. No negative responses were identified in both questionnaires. The feedback provides evidence of FTW's effective training program, while allowing insight into where further improvements can be made.

First successful lower-extremity transplantation: technique and functional result.

Composite tissue transplantation has emerged as a viable alternative to prosthetics and complex reconstructive surgery. Thus far it is reserved for cases which cannot be effectively reconstructed and where it offers some benefits over prostheses. It has been used in the upper extremity with encouraging results and, most recently, in the face. This report outlines what is believed to be the first such use in the lower extremity. A normal lower limb in a 3-month-old ischiopagus twin who was not going to survive was transplanted to the appropriate pelvic position, revascularized, and reinnervated in an otherwise healthy sister. The limb survived and, because of the immune compatibility, did not require immune suppressive therapy. The return of muscle function in the transplanted limb is encouraging. The transplanted limb appears to be fully sensate. In addition to reinnervation, the limb is now spontaneously under the cortical control of the recipient.

Johanson-Blizzard syndrome: A challenge in nasal reconstruction.

Johanson-Blizzard syndrome is rare and involves multiple congenital anomalies, including bilateral absence or deficiency of the nasal alae, giving the affected infant a characteristic appearance. Two cases are described that illustrate the difficulties of nasal reconstruction in young children. Surgical options and the timing of intervention are discussed.

Le syndrome de Johanson-Blizzard est rare. Il comporte des anomalies congénitales multiples, y compris une absence bilatérale ou une anomalie des ailes du nez, qui donne à l'enfant atteint une apparence caractéristique. Deux cas sont décrits qui illustrent les difficultés de la reconstruction nasale chez les jeunes enfants. Sont examinés les possibilités chirurgicales et le moment de prévoir l'intervention.