Psychometric Validation of the FACE-Q Craniofacial Module for Facial Nerve Paralysis.

Background: Systematic reviews have identified the need for a patient-reported outcome measure for facial nerve paralysis (FNP). The aim of this study was to determine the psychometric properties of FACE-Q Craniofacial module scales when used in a combined sample of children and older adults with FNP. Methods: Data were collected between December 2016 and December 2019. We conducted qualitative interviews with children and adults with FNP. FACE-Q data were collected from patients aged 8 years and older with FNP. Rasch measurement theory analysis was used to examine the reliability and validity of the relevant scales in the FNP sample. Results: Twenty-five patients provided 2052 qualitative codes related to appearance, physical, psychological, and social function. Many patient concerns were common across age. The field-test sample included 235 patients aged 8-81 years. Of the 13 scales examined, all 122 items had ordered thresholds and good item fit to the Rasch model. For 12 scales, person separation index values were ≥0.79 and Cronbach's alpha values were ≥0.82. The 13th scale's reliability values were ≥0.71. Conclusion: The FACE-Q Craniofacial module scales described in this study can be used to collect and compare evidence-based outcome data from children and adults with FNP.

Craniosynostosis With Preoperative Iron Supplementation Exposure: A Retrospective Cohort Study Examining Preoperative Iron Supplementation and Transfusion Practice in a National Paediatric Craniofacial Centre.

BACKGROUND: Blood loss and subsequent transfusion are key concerns in the surgical management of craniosynostosis, and have been associated with increased morbidity, requirement for intensive care admission and increased length of hospital stay. Patient blood management guidelines advocate treatment of anemia before elective surgical procedures where significant blood loss is anticipated. At present there is little evidence in the literature investigating the clinical value of this practice in pediatric craniofacial surgery. AIMS: The authors examined the effect of preoperative oral iron supplementation on blood loss and transfusion rates in a national pediatric craniofacial unit. METHODS: A total of 157 patients were included in a retrospective and prospective observational cohort study conducted between July 2011 and November 2016. Eighty-five (85) patients included in the preoperative iron supplementation group were prescribed oral ferrous fumarate before total cranial vault reconstruction, frontal-orbital advancement or extended strip cranial vault remodeling procedures. This cohort was retrospectively compared to seventy-two (72) consecutive patients who did not receive iron supplementation. RESULTS: Calculated blood loss was 51.3 mL/kg in the intervention group, and 56.65 mL/kg in the control group. Transfusion rate and mean volumes for the intervention group were 85.9% and 25 mL/kg. The control group had transfusion rate of 86.1% with mean transfused volume of 24.7 mL/kg. These differences were not statistically significant. Intraoperative tranexamic acid was associated with significantly reduced transfusion volumes overall. CONCLUSIONS: This study did not show a statistically significant benefit to preoperative iron supplementation. Secondary outcomes of this study showed a statistically significant difference in estimated versus calculated intraoperative blood loss. Further research in to specific iron supplementation protocols is indicated.

Examining the Relationship Between Wound Complications and the Use of Resorbable Plates in Cranial Vault Reconstruction.

BACKGROUND: Resorbable plates are commonly used in cranial vault reconstruction surgery. There are few published papers examining their safety profile. The authors examined the prevalence of wound complications associated with the use of resorbable plates (Inion CPS Fixation System) in pediatric patients undergoing cranial vault reconstruction. METHODS: A retrospective review of patients (n = 182) who underwent cranial vault reconstruction using resorbable plate fixation was undertaken. All procedures were performed by a single Craniofacial Surgeon at the National Pediatric Craniofacial Center from 2008 to 2016. Wound complications were identified from a prospectively maintained database and medical note review. Several key patient characteristics and surgical variables were also recorded and tested for associations with wound complications. RESULTS: A total of 58.8% (107 of 182) of patients were male with a median age at surgery of 16.2 months. Overall, 12.1% (22 of 182) experienced a postoperative wound complication requiring hospital admission. A total of 2.73% (5 of 182) of the patients that returned to theatre had remnants of plates removed. The authors had a mean time from primary operation to secondary reoperation of 103 days. In univariate statistical analysis, females were more likely to develop a wound complication. However, in stratified analyses excluding patients with an underlying genetic syndrome, increasing age, and lower weight but not gender were associated with wound complications. CONCLUSIONS: A 12.1% (22 of 182) wound complication rate with the use of the Inion CPS Fixation System was observed. Inion plates appear to have an equivalent safety profile to other fixation devices. Increasing age and lower weight were associated with an increased risk of wound complications in nonsyndromic patients.

FACE-Q Craniofacial Module: Part 1 validation of CLEFT-Q scales for use in children and young adults with facial conditions.

BACKGROUND: The CLEFT-Q includes 12 independently functioning scales that measure appearance (face, nose, nostrils, teeth, lips, jaws), health-related quality of life (psychological, social, school, speech distress), and speech function, and an eating/drinking checklist. Previous qualitative research revealed that the CLEFT-Q has content validity in noncleft craniofacial conditions. This study aimed to examine the psychometric performance of the CLEFT-Q in an international sample of patients with a broad range of facial conditions. METHODS: Data were collected between October 2016 and December 2019 from 2132 patients aged 8 to 29 years with noncleft facial conditions. Rasch measurement theory (RMT) analysis was used to examine Differential Item Function (DIF) by comparing the original CLEFT-Q sample and the new FACE-Q craniofacial sample. Reliability and validity of the scales in a combined cleft and craniofacial sample (n=4743) were examined. RESULTS: DIF was found for 23 CLEFT-Q items when the datasets for the two samples were compared. When items with DIF were split by sample, correlations between the original and split person locations showed that DIF had negligible impact on scale scoring (correlations ≥0.995). In the combined sample, RMT analysis led to the retention of original content for ten CLEFT-Q scales, modification of the Teeth scale, and the addition of an Eating/Drinking scale. Data obtained fit with the Rasch model for 11 scales (exception School, p=0.04). Person Separation Index and Cronbach alpha values met the criteria. CONCLUSION: The scales described in this study can be used to measure outcomes in children and young adults with cleft and noncleft craniofacial conditions.

FACE-Q craniofacial module: Part 2 Psychometric properties of newly developed scales for children and young adults with facial conditions.

BACKGROUND: The FACE-Q Craniofacial Module is a patient-reported outcome measure designed for patients aged 8 to 29 years with conditions associated with a facial difference. In part 1, we describe the psychometric findings for the original CLEFT-Q scales tested in patients with cleft and noncleft facial conditions. The aim of this study was to examine psychometric performance of new FACE-Q Craniofacial Module scales. METHODS: Data were collected between December 2016 and December 2019 from patients aged 8 to 29 years with conditions associated with a visible or functional facial difference. Rasch measurement theory (RMT) analysis was used to examine psychometric properties of each scale. Scores were transformed from 0 (worst) to 100 (best) for tests of construct validity. RESULTS: 1495 participants were recruited with a broad range of conditions (e.g., birthmarks, facial paralysis, craniosynostosis, craniofacial microsomia, etc.) RMT analysis resulted in the refinement of 7 appearance scales (Birthmark, Cheeks, Chin, Eyes, Forehead, Head Shape, Smile), two function scales (Breathing, Facial), and an Appearance Distress scale. Person separation index and Cronbach alpha values met criteria. Three checklists were also formed (Eye Function, and Eye and Face Adverse Effects). Significantly lower scores on eight of nine scales were reported by participants whose appearance or functional difference was rated as a major rather than minor or no difference. Higher appearance distress correlated with lower appearance scale scores. CONCLUSION: The FACE-Q Craniofacial Module scales can be used to collect and compare patient reported outcomes data in children and young adults with a facial condition.

ESPRAS Survey on Breast Reconstruction in Europe.

BACKGROUND: The European Leadership Forum (ELF) of the European Society of Plastic, Reconstructive and Aesthetic Surgery (ESPRAS) previously identified the need for harmonisation of breast reconstruction standards in Europe, in order to strengthen the role of plastic surgeons. This study aims to survey the status, current trends and potential regional differences in the practice of breast reconstruction in Europe, with emphasis on equity and access. MATERIALS AND METHODS: A largescale web-based questionnaire was sent to consultant plastic and reconstructive surgeons, who are experienced in breast reconstruction and with understanding of the national situation in their country. Suitable participants were identified via the Executive Committee (ExCo) of ESPRAS and national delegates of ESPRAS. The results were evaluated and related to evidence-based literature. RESULTS: A total of 33 participants from 29 European countries participated in this study. Overall, the incidence of breast reconstruction was reported to be relatively low across Europe, comparable to other large geographic regions, such as North America. Equity of provision and access to breast reconstruction was distributed evenly within Europe, with geographic regions potentially affecting the type of reconstruction offered. Standard practices with regard to radiotherapy differed between countries and a clear demand for European guidelines on breast reconstruction was reported. CONCLUSION: This study identified distinct lack of consistency in international practice patterns across European countries and a strong demand for consistent European guidance. Large-scale and multi-centre European clinical trials are required to further elucidate the presented areas of interest and to define European standard operating procedures.

Surgical management of an odontogenic cutaneous fistula.

A patient presented to our unit with a long history of a discharging skin infection on his left cheek, which came and went. He had been seen by numerous healthcare practitioners including his general practitioner, general dental practitioner and dermatologist, with no resolution. He was eventually diagnosed with an odontogenic cutaneous fistula (OCF), for which he underwent surgical management. The purpose of the study is to describe the diagnosis and surgical management of an OCF, from initial assessment through to postoperative review and discharge. Following surgical management of the OCF and treatment of the source of infection by dental extraction, the patient is no longer experiencing purulent discharge through his left cheek. The extraoral skin site of drainage at his left cheek has resolved completely, with minimal residual scarring. OCF can be managed by a number of different treatment modalities. The treatment of an OCF by surgical excision is presented.

"The historical timeline of cranioplasty".

Cranioplasty, defined as the reconstruction of cranial defects, not only offers protective effects with an aesthetically pleasing outcome, but also reverses the altered physiology post craniotomy and craniectomy. The journey of cranioplasty from its roots to the neoteric armamentarium depicts how enormously the innovation of surgical techniques have changed the face of plastic surgery.

Strengthening Plastic Surgery in Europe - ESPRAS Survey at ESPRAS European Leadership Forum (ELF).

BACKGROUND: The Executive Committee (ExCo) of the European Society of Plastic, Reconstructive and Aesthetic Surgery (ESPRAS) organized a first ESPRAS European Leadership Forum (ELF) to facilitate international exchange and to provide a platform for international leaders and delegates of national societies of Plastic Surgery to discuss common challenges. The presented manuscript presents key findings in a first effort of international harmonization and cooperation. MATERIALS AND METHODS: Members of the executive (presidents, vice-presidents, secretary generals) and national delegates of Plastic Surgery national societies discussed hot topics in Plastic Surgery via the Zoom virtual conferencing system (Zoom Video Communications, Inc.). Attending participants responded to a virtual question & answer session with questions being displayed throughout the webinar. RESULTS: The challenges associated with Aesthetic Surgery performed by doctors who are not board-certified Plastic Surgeons and Breast Implant-Associated Anaplastic Large Cell Lymphoma (BIA-ALCL) were perceived as major hot topics within most national societies. Both topics were discussed vividly. Education in plastic surgery and a European fellowship program for young Plastic Surgeons was favored by a large majority of participants. The implementation of European registries for free flaps, implants and for breast reconstruction were supported by the majority of respondents. CONCLUSION: The ESPRAS ELF provides a platform to propel international exchange and alliance, communication, education, research and future projects. A further virtual webinar with the topic "Strategies for Strengthening and Defending Plastic Surgery against Others" was suggested to be conducted in spring 2021.

X-rays had little value in diagnosing children's abnormal skull shapes, and primary care clinicians should refer concerns to specialist teams.

AIM: This study examined the consensus between the primary care radiological diagnosis and specialist clinical diagnosis of abnormal skull shapes in children. METHODS: We performed a retrospective review of children treated at the National Paediatric Craniofacial Centre at Children's Health Ireland, Dublin, Ireland. Group 1 were referred by primary care colleagues concerned about suspected abnormal skull shapes from 1 January 2015 to 30 May 2017. These included cases where they sought specialist confirmation that the skull shape was normal. Group 2 underwent surgery for craniosynostosis from 1 January 2011 to 25 October 2017. The primary care skull X-ray reports were examined for both groups to see whether they matched the specialist diagnosis. RESULTS: Group 1 comprised 300 children, and 59 (20%) had pre-referral skull X-rays. The primary care X-ray reports and specialist diagnoses agreed in 44 (75%) cases, including 19 (43%) who had a normal skull shape. Group 2 comprised 274 children, and 63 (23%) had pre-referral skull X-rays. In this group, there was agreement in 41 (65%) diagnoses; however, the primary care X-ray reports did not diagnose craniosynostosis for the remaining 22 (35%) children. CONCLUSION: X-rays were of little value in diagnosing abnormal skull shapes, especially craniosynostosis, and primary care clinicians should refer concerns to specialist teams.

Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis.

We report clinical and radiological features of a patient born with an isolated skull malformation of caput membranaceum and partial bicoronal craniosynostosis with a novel, de novo heterozygous missense variant in ZIC1 [NM_003412.3:c.1183C>G, p.(Pro395Ala)]. Caput membranaceum, or boneless skull, is a rare manifestation of skull ossification defect. It can result from an isolated, enlarged parietal foramina or it can present as part of skeletal dysplasia syndromes associated with poor mineralization such as hypophosphatasia, osteogenesis imperfecta type II, and Saethre-Chotzen syndrome. Their causative genes are well described. ZIC1, Zinc Finger protein of the cerebellum 1 (OMIM #600470) belongs to ZIC family genes, each encoding a Cys2 His2-type zinc finger domain-containing transcription factors. Recent studies have shown that pathogenic variants in ZIC1 have deleterious effect in developing human central nerves system and skull bone. ZIC1 related clinical conditions are reported and include cerebellum malformation, Dandy-Walker malformation, spinal dysraphism, microcephaly, and craniosynostosis with associated intellectual disability. To-date, there is no report of pathogenic variant in ZIC1 causing isolated caput membranaceum. Our observation adds to the clinical spectrum of ZIC1 related skull malformation.

The COVID-19 Pandemic and its Impact on Plastic Surgery in Europe - An ESPRAS Survey.

The present article provides an overview of the current and expected effects of plastic surgery in Europe. It presents the experience of departments for plastic and reconstructive surgery, as evaluated by interviews with members of the Executive Committee (ExCo) of the European Society of Plastic, Reconstructive and Aesthetic Surgery (ESPRAS). The objective of this overview is to summmarise current information in our area of work and to make this accessible to a broad group of readers. As our knowledge is rapidly increasing during the current pandemic, it is evident that we can only provide a snapshot and this will inevitably be incomplete.

Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness.

We report the case of a 7-month-old girl with atypical oculo-facio-cardio-dental syndrome (OFCD). A novel de novo pathogenic mutation in the BCL6 interacting co-repressor gene (BCOR) (c.4540C>T; p.Arg1514*), was identified on the X chromosome. This case expands the phenotype of OFCD as it is the first report of a case presenting with craniosynostois, temporal hypertrichosis, supraorbital grooving, and underdevelopment of the midface.

Identification of the mechanisms by which age alters the mechanosensitivity of mesenchymal stromal cells on substrates of differing stiffness: Implications for osteogenesis and angiogenesis.

In order to identify the mechanisms by which skeletal maturity alters the mechanosensitivity of mesenchymal stromal cells (MSCs) and, the implications for osteogenesis and angiogenesis during bone formation, we compared the response of MSCs derived from children and skeletally-mature healthy adults cultured on soft and stiff collagen-coated polyacrylamide substrates. MSCs from children were more mechanosensitive, showing enhanced angiogenesis and osteogenesis on stiff substrates as indicated by increased endothelial tubule formation, PGF production, nuclear-translocation of YAP, ALP activity and mineralisation. To examine these mechanisms in more detail, a customised PCR array identified an age-dependent, stiffness-induced upregulation of NOX1, VEGFR1, VEGFR2, WIF1 and, of particular interest, JNK3 in cells from children compared to adults. When JNK3 activity was inhibited, a reduction in stiffness-induced driven osteogenesis was observed - suggesting that JNK3 might serve as a novel target for recapitulating the enhanced regenerative potential of children in adults suffering from bone degeneration. STATEMENT OF SIGNIFICANCE: We investigated the age-associated changes in the capacity of MSCs for bone regeneration involving the mechanosensitive signalling pathways, which reduce the ability of adult cells to respond to biophysical cues in comparison to cells from children, who are still undergoing bone development. Our results offer new insights into the mechanobiology of MSCs and sheds new light on age-altered mechanosensitivity and, on why children have such an immense capacity to regenerate their skeletal system. We have identified the mechanisms by which skeletal maturity alters the mechanosensitivity of mesenchymal stromal cells and an age-dependent, stiffness-induced upregulation of a number of prominent genes including, most notably, JNK3 in children cells, thus suggesting its potential to promote enhanced bone repair.

Possible toxicity following embolization of congenital giant vertex hemangioma: case report.

The authors describe the case of a 3-year-old boy with a giant congenital vertex hemangioma who underwent presurgical embolization with Onyx (ethylene-vinyl alcohol copolymer dissolved in dimethyl sulfoxide) and Glubran ( N-butyl-2-cyanoacrylate). This vascular tumor had no intracranial vascular communication as assessed by pre-embolization MRI and catheter angiography. All embolizations were performed by direct percutaneous injection. One week following the last embolization procedure the child presented with a 24-hour history of ataxia and extrapyramidal tremor. He was diagnosed with a possible immune-mediated reaction to Onyx or Glubran, which was treated with an urgent surgical excision of the hemangioma followed by intravenous administration of immunoglobulin and steroids. To the authors' knowledge, this is the first case of possible immune-mediated toxicity secondary to either Onyx or Glubran administration. This case highlights the need for awareness of potential toxic reactions to these embolic agents in the treatment of hemangiomas in the pediatric patient.

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.

Craniosynostosis, the premature fusion of the cranial sutures, is a heterogeneous disorder with a prevalence of ∼1 in 2,200 (refs. 1,2). A specific genetic etiology can be identified in ∼21% of cases, including mutations of TWIST1, which encodes a class II basic helix-loop-helix (bHLH) transcription factor, and causes Saethre-Chotzen syndrome, typically associated with coronal synostosis. Using exome sequencing, we identified 38 heterozygous TCF12 mutations in 347 samples from unrelated individuals with craniosynostosis. The mutations predominantly occurred in individuals with coronal synostosis and accounted for 32% and 10% of subjects with bilateral and unilateral pathology, respectively. TCF12 encodes one of three class I E proteins that heterodimerize with class II bHLH proteins such as TWIST1. We show that TCF12 and TWIST1 act synergistically in a transactivation assay and that mice doubly heterozygous for loss-of-function mutations in Tcf12 and Twist1 have severe coronal synostosis. Hence, the dosage of TCF12-TWIST1 heterodimers is critical for normal coronal suture development.

A cephalometric analysis of maxillary and mandibular parameters in Treacher Collins syndrome.

BACKGROUND: Treacher Collins syndrome is an autosomal dominant condition of varying severity, affecting the tissues of the first and second branchial arches. The aim of this article is to present a cephalometric analysis of the craniofacial skeleton in Treacher Collins syndrome and provide an age- and sex-matched comparison as a standard control sample. METHODS: Twenty-four Treacher Collins syndrome patients (11 male patients and 13 female patients; mean age, 17.99 +/- 1.96 years) underwent cephalometric studies, including orthopantomography and lateral and anteroposterior cephalography, as part of their preparation for bimaxillary surgery. Cephalometric parameters assessing the relationships of the skull base, maxilla, and mandible were analyzed and compared with age- and sex-matched control data (mean age, 17.75 +/- 1.95 years). RESULTS: Cephalometric analysis before orthognathic surgery documented that the Treacher Collins syndrome mandible and midface are expectedly short in the anteroposterior plane; however, the ratio of maxillomandibular deficiency is particularly significant in the female patient. The mandibular plane angle is obtuse, affecting female patients in particular, in whom there is also a posteriorly placed chin point. Affected individuals have a high antegonial notch height. Although the parameters of anterior lower facial height proportion in control and syndrome individuals are similar, posterior face height in Treacher Collins syndrome is reduced. CONCLUSIONS: This study quantifies the cephalometric dysmorphology of patients with Treacher Collins syndrome and compares it to that of age-matched controls. These cephalometric characteristics have clinical significance in Treacher Collins syndrome and in the planning of bimaxillary advancement and genioplasty in syndrome patients.

Free tissue transfer and deep vein thrombosis.

Reconstruction of the post-oncologic defect of the lower limb frequently requires free tissue transfer and these often extensive bone and soft tissue resections can occasionally be compounded by the presence of a deep venous thrombosis (DVT). We describe two patients in whom free tissue transfer was attempted, following extensive resection of a sarcoma in the thigh. Both patients had been diagnosed with DVT prior to surgery and received therapeutic low molecular weight heparin preoperatively. In the first patient, flap failure occurred due to venous congestion initially resulting from poor flow in the reconstructed femoral vein and then thrombosis and failure of the vascular reconstruction. In the second patient the superficial venous system was used for successful microvascular anastomosis leading to survival of the flap. Therefore, patients undergoing lower extremity free tissue transfer who are at high risk of DVT, or when there is a clinical suspicion of DVT, thorough preoperative assessment of the deep and superficial venous system is warranted for reconstruction planning.

Bisphosphonates and avascular necrosis of the mandible: case report and review of the literature.

BACKGROUND: Avascular necrosis of the mandible or maxilla is being recognized with increasing frequency in patients who are being treated with bisphosphonates for metastatic cancers. METHODS AND RESULTS: A patient who was treated for avascular necrosis following treatment with bisphosphonates for multiple myeloma is presented. CONCLUSION: Prophylactic and preventative measures should be instituted prior to commencing treatment with bisphosphonates to minimize the risk of developing avascular necrosis.