The Development of a European Multidisciplinary Cleft Lip and Palate Registry by the European Reference Network CRANIO: Experiences, Barriers, And Facilitators.

The European Reference Network for Rare Craniofacial Aanomalies and Ear-Nose-Throat disorders aims to improve care for patients with such afflictions, including cleft lip and palate (CL/P) across Europe. Cleft treatment remains varied throughout European centers, inhibiting meaningful comparison of treatment outcomes. To overcome these issues, a European-wide common CL/P dataset and registry was developed, facilitating standardized treatment endpoints and outcome measures for international comparison and benchmarking of CL/P centers. Questionnaires and semi-structured interviews were used to determine the set-up of the registry. Previous CL/P initiatives were analyzed to create an initial dataset, refined through consensus meetings. In total, 87 cleft specialists working in specialized CL/P centers from 16 European nations participated. Consensus on a common dataset was reached. A "Level 1" dataset, with mandatory clinical and patient-reported outcome measures, and "Level 2" dataset with additional outcome measures. Finally, 2 dashboards were developed for data dissemination. The development of the European CL/P common dataset and registry tackled challenges with resource disparities, variations in specialists within CL/P teams, regulatory differences in patient data usage, patient-reported outcome measures availability in European languages, and use of assessment tools. This study described the successful development of the European Reference Network for Rare Craniofacial Aanomalies and Ear-Nose-Throat disorders CL/P common dataset and registry. This achievement will help improve patient care and outcomes for patients with CL/P in Europe. Furthermore, this study provides useful information for initiatives with similar aims.

Body Contouring Surgery After Bariatric Surgery Improves Long-Term Health-Related Quality of Life and Satisfaction With Appearance: An International Longitudinal Cohort Study Using the BODY-Q.

OBJECTIVE: To examine health-related quality of life (HRQL) and satisfaction with appearance in patients who have undergone bariatric surgery (BS) with or without subsequent body contouring surgery (BCS) in relation to the general population normative for the BODY-Q. BACKGROUND: The long-term impact of BS with or without BCS has not been established using rigorously developed and validated patient-reported outcome measures. The BODY-Q is a patient-reported outcome measure developed to measure changes in HRQL and satisfaction with appearance in patients with BS and BCS. METHODS: Prospective BODY-Q data were collected from 6 European countries (Denmark, the Netherlands, Finland, Germany, Italy, and Poland) from June 2015 to February 2022 in a cohort of patients who underwent BS. Mixed-effects regression models were used to analyze changes in HRQL and appearance over time between patients who did and did not receive BCS and to examine the impact of patient-level covariates on outcomes. RESULTS: This study included 24,604 assessments from 5620 patients. BS initially led to improved HRQL and appearance scores throughout the first postbariatric year, followed by a gradual decrease. Patients who underwent subsequent BCS after BS experienced a sustained improvement in HRQL and appearance or remained relatively stable for up to 10 years postoperatively. CONCLUSIONS: Patients who underwent BCS maintained an improvement in HRQL and satisfaction with appearance in contrast to patients who only underwent BS, who reported a decline in scores 1 to 2 years postoperatively. Our results emphasize the pivotal role that BCS plays in the completion of the weight loss trajectory.

What is the optimal assessment of speech? A multicentre, international evaluation of speech assessment in 2500 patients with a cleft.

OBJECTIVES: Speech problems in patients with a cleft palate are often complex and multifactorial. Finding the optimal way of monitoring these problems is challenging. The International Consortium of Health Outcomes Measurement (ICHOM) has developed a set of standardised outcome measures at specific ages for patients with a cleft lip and/or palate, including measures of speech assessment. This study evaluates the type and timing of speech outcome measures currently included in this ICHOM Standard Set. Additionally, speech assessments in other cleft protocols and initiatives are discussed. DESIGN, SETTING AND PARTICIPANTS: An international, multicentre study was set up including centres from the USA and the Netherlands. Outcomes of clinical measures and Patient Reported Outcome Measures (PROMs) were collected retrospectively according to the ICHOM set. PROM data from a field test of the CLEFT-Q, a questionnaire developed and validated for patients with a cleft, were collected, including participants from countries with all sorts of income statuses, to examine the value of additional moments of measurement that are used in other cleft initiatives.Data from 2500 patients were included. Measured outcomes contained univariate regression analyses, trend analyses, t-tests, correlations and floor and ceiling effects. RESULTS: PROMs correlated low to moderate with clinical outcome measures. Clinical outcome measures correlated low to moderate with each other too. In contrast, two CLEFT-Q Scales correlated strongly with each other. All PROMs and the Percent Consonants Correct (PCC) showed an effect of age. In patients with an isolated cleft palate, a ceiling effect was found in the Intelligibility in Context Scale. CONCLUSION: Recommendations for an optimal speech outcome assessment in cleft patients are made. Measurement moments of different cleft protocols and initiatives are considered in this proposition. Concerning the type of measures, adjustment of the current PCC score outcome seems appropriate. For centres with adequate resources and specific interest in research, translation and validation of an upcoming tool, the Cleft Audit Protocol for Speech Augmented, is recommended.

Body Image and Weight Loss Outcome After Bariatric Metabolic Surgery: a Mixed Model Analysis.

PURPOSE: As in nonsurgical weight loss populations, body image may partly explain differences in weight loss outcomes after surgery. The aim of this study was to determine the prospective association between body image and weight loss in a longitudinal cohort of patients up to 3 years after bariatric metabolic surgery. MATERIALS AND METHODS: The BODY-Q self-report questionnaire was used to assess body image. Linear mixed models evaluated associations of baseline body image with weight loss in the first year as well as associations of body image at 12 months and first-year change in body image with weight loss 12 to 36 months after surgery. RESULTS: Available body image data included 400 (100%), 371 (93%), 306 (77%), 289 (72%), and 218 (55%) patients at baseline and 4, 12, 24, and 36 months, respectively. Body image scores improved significantly until 12 months, followed by a gradual decline. Scores remained improved in comparison to baseline (ß = 31.49, 95% CI [27.8, 35.2], p < .001). Higher baseline body image was associated with less weight loss during the first year, and the effect size was trivial (ß = -0.05, 95% CI [-0.09, -0.01], p = .009). Body image and change in body image were not associated with weight loss 12 to 36 months after surgery. CONCLUSION: Body image improved after bariatric metabolic surgery. Although no clinically relevant associations of body image with weight loss were demonstrated, the gradual decline in body image scores underlines the importance of long-term follow-up with regular assessment of this aspect of quality of life.

Validation of the Dutch Version of the BODY-Q Measuring Appearance, Health-Related Quality of Life, and Experience of Healthcare in Patients Undergoing Bariatric and Body Contouring Surgery.

BACKGROUND: The BODY-Q is a patient-reported outcome measure developed for use in bariatric and body contouring surgery. OBJECTIVES: The objective of this study was to examine the validity and reliability of the Dutch version of the BODY-Q. METHODS: The BODY-Q consists of 163 items in 21 independently functioning scales that measure appearance, health-related quality of life, and experience of care. The data used to validate the Dutch BODY-Q were provided by 2 prospective multicenter cohort studies across 3 hospitals in the Netherlands. The BODY-Q was administered before and after surgery at 3 or 4 months and 12 months. Rasch measurement theory (RMT) analysis was used to evaluate the BODY-Q for targeting, category threshold order, Rasch model fit, Person Separation Index, and differential item functioning by language (original English data vs Dutch data). RESULTS: Data were collected between January 2016 and May 2019. The study included 876 participants, who provided 1614 assessments. Validity was supported by 3 RMT findings: most scales showed good targeting, 160 out of 163 items (98.2%) evidenced ordered thresholds, and 142 out of 163 items (87.1%) fitted the RMT model. Reliability was high with Person Separation Index values >0.70 for 19 out of 21 scales. There was negligible influence of differential item functioning by language on person item locations and the scale scoring. CONCLUSIONS: This study provides evidence for the reliability and validity of the Dutch BODY-Q for use in bariatric and body contouring patients in the Netherlands. The Dutch BODY-Q can be used in (inter)national research and clinical practice.

Patient-Level Factors Associated with Health-Related Quality of Life and Satisfaction with Body After Bariatric Surgery: a Multicenter, Cross-Sectional Study.

BACKGROUND: Health-Related Quality of Life (HRQL) is a key outcome of success after bariatric surgery. Not all patients report improved HRQL scores postoperatively, which may be due to patient-level factors. It is unknown which factors influence HRQL after surgery. Our objective was to assess patient-level factors associated with HRQL after surgery. METHODS: This international cross-sectional study included 730 patients who had bariatric surgery. Participants completed BODY-Q scales pertaining to HRQL and satisfaction with body, and demographic characteristics were obtained. The sample was divided into three groups based on time since surgery: 0 - 1 year, 1 - 3 years and more than 3 years. Uni- and multivariable linear regression analyses were conducted to identify variables associated with the BODY-Q scales per group. RESULTS: The 0 - 1 year postoperative group included 377 patients (50.9%), the 1 - 3 years postoperative group 218 (29.4%) and the more than 3 years postoperative group 135 patients (18.2%). Lower current body-mass index (BMI), more weight loss (%TWL), being employed, having no comorbidities, higher age and shorter time since surgery were significantly associated with improved HRQL outcomes postoperatively. None of these factors influenced all BODY-Q scales. The effect of current BMI increased with longer time since surgery. CONCLUSION: Factors including current BMI, %TWL, employment status, presence of comorbidities, age and time since surgery were associated with HRQL postoperatively. This information may be used to optimize patient-tailored care, improve patient education and underline the importance of long-term follow-up with special attention to weight regain to ensure lasting improvement in HRQL.

Joint Distraction for Thumb Carpometacarpal Osteoarthritis: 2-Year Follow-up Results of 20 Patients.

Background Joint distraction is a fairly new treatment for patients with symptomatic thumb carpometacarpal osteoarthritis (CMC1 OA). A previous pilot study of five patients showed that CMC1 joint distraction is technically feasible. The current study presents the results of CMC1 joint distraction in 20 patients with a 2-year follow-up period. Purposes The primary study aim was to assess if patients with CMC1 OA have better physical function and less pain 2 years after CMC1 joint distraction. Second, we assessed the number of patients who achieved a minimal clinically important difference (MCID) in patient-reported outcome measures at each follow-up time point. Furthermore, this study sought differences on magnetic resonance imaging (MRI) of the CMC1 joint before and after distraction. Adverse events were noted and reported. Methods Twenty patients (median age of 54 years) with symptomatic CMC1 OA and an established indication for a trapeziectomy were enrolled. An external distractor device was placed over the CMC1 joint and left in situ for 8 weeks. Disabilities of the Arm, Shoulder, and Hand (DASH) score, Michigan Hand Outcome Questionnaire (MHQ), visual analogue scale (VAS), and grip strength were recorded preoperatively and at 3, 6, 12, and 24 months postoperatively. Results Two years after joint distraction, physical function and pain scores had improved significantly compared with baseline: DASH from 48 to 17, MHQ from 56 to 83, and VAS for pain from 50 to 18 mm. Fourteen of 19 patients (74%) reached an MCID in DASH and MHQ scores. One patient was not satisfied with treatment outcome and chose to proceed with a trapeziectomy 14 months after initial distraction therapy. Conclusions This study demonstrates that CMC1 joint distraction can postpone more invasive surgical interventions (e.g., trapeziectomy) for at least 2 years. Larger comparative studies are needed to assess the value of CMC1 joint distraction in the treatment of CMC1 OA. Level of Evidence This is a Level IV, prospective case series study.

Can we decrease the duration of basal thumb joint distraction for early osteoarthritis from 8 to 6 weeks? Study protocol for a non-inferiority randomized controlled trial.

BACKGROUND: To our knowledge, to date, 52 patients with thumb carpometacarpal osteoarthritis (CMC1 OA) were treated with joint distraction. So far, most patients experienced improved physical function and less pain. After 2 years, only 1 patient proceeded to trapeziectomy. This study assesses if we can safely lower the distraction duration from 8 to 6 weeks for CMC1 joint distraction, maintaining the improvement in physical function and pain. METHODS: This is a monocenter randomized controlled non-inferiority trial that includes patients younger than 65 years of age with ongoing symptoms of CMC1 OA and an established indication for surgery. All patients will be treated with CMC1 joint distraction. The primary outcome is to assess whether 6 weeks of joint distraction is not inferior to 8 weeks in terms of physical function at 1 year after surgery. Secondary outcomes will identify differences between groups at 1 year in pain intensity, patient satisfaction, hand health status, adverse event rates, treatment failure, differences in thumb strength and range of motion, and radiographic changes. DISCUSSION: If safe, the duration of basal thumb joint distraction can be reduced to 6 weeks, reducing patient burden. Because this is a relatively new treatment, this trial will provide greater knowledge of potential adverse events. This knowledge allows for more informed decision making for patients considering CMC1 distraction treatment. Future studies can directly compare joint distraction to other treatments of CMC1 joint arthritis like splinting and trapeziectomy. TRIAL REGISTRATION: Central Committee on Research Involving Human Subjects (CCMO), NL68225.100.18; registered on 9 August 2019. Medical Research Ethics Committees United (MEC-U), R19.003; registered on 9 August 2019. Netherlands Trial Register, NL8016 ; registered on 15 September 2019.

The PRS Rainbow Classification for Assessing Postbariatric Contour Deformities.

BACKGROUND: There is a need for a reliable classification system to grade contour deformities and to inform reimbursement of body contouring surgery after massive weight loss. We developed the PRS Rainbow Classification, which uses select photographs to provide standardized references for evaluating patient photographs, to classify contour deformities in postbariatric patients. To assess the reliability of the PRS Rainbow Classification to classify contour deformities in massive weight loss patients. METHODS: Ten independent experienced plastic surgeons, 7 experienced medical advisors of the healthcare insurance company, and 10 laypersons evaluated 50 photographs per anatomical region (arms, breast, abdomen, and medial thighs). Each participant rated the patient photographs on a scale of 1-3 in an online survey. The inter-observer and the intra-observer reliabilities were determined using intra-class correlation coefficients (ICCs). The ICC analyses were performed for each anatomical region. RESULTS: Inter-observer reliability was moderate to good in the body regions "arms," "abdomen," "medial thighs," with mean ICC values of 0.678 [95% confidence interval (CI), 0.591-0.768], 0.685 (95% CI, 0.599-0.773), and 0.658 (95% CI, 0.569-0.751), respectively. Inter-observer reliability was comparable within the 3 different professional groups. Intra-observer reliability (test-retest reliability) was moderate to good, with a mean overall ICC value of 0.723 (95% CI, 0.572-0.874) for all groups and all 4 body regions. CONCLUSIONS: The moderate to good reliability found in this study validates the use of the PRS Rainbow Classification as a reproducible and reliable classification system to assess contour deformities after massive weight loss. It holds promise as a key part of instruments to classify body contour deformities and to assess reimbursement of body contouring surgery.

Variation in Offer of Operative Treatment to Patients With Trapeziometacarpal Osteoarthritis.

PURPOSE: Operative treatment of trapeziometacarpal osteoarthritis (TMC OA) is discretionary. There is substantial surgeon-to-surgeon variation in offers of surgery. This study assessed factors associated with variation in recommendation of operative treatment to patients with TMC OA. Secondarily, we studied factors associated with preferred operative technique and surgeon demographic factors variability in recommendation for operative treatment. METHODS: We invited all hand surgeon members of the Science of Variation Group to review 16 scenarios of patients with TMC OA and asked the surgeons whether they would recommend surgical treatment for each patient and, if yes, which surgical technique they would offer (trapeziectomy, trapeziectomy with ligament reconstruction and/or tendon interposition, joint replacement, or arthrodesis). Scenarios varied in pain intensity, relief after injection, radiographic severity, and psychosocial symptoms. RESULTS: Patient characteristics associated with greater likelihood to recommend surgical treatment were substantial pain, a previous injection that did not relieve pain, radiograph with severe TMC OA, and few symptoms of depression. Practice region was the only factor associated with preferred surgical technique and trapeziectomy with ligament reconstruction and/or tendon interposition the most commonly recommended treatment. There was low agreement among surgeons regarding treatment recommendations. CONCLUSIONS: The notable variation in offers of operative treatment for TMC OA is largely associated with variable attention to subjective factors. Future studies might address the relative influence of surgeon incentives and beliefs, objective pathophysiology, and subjective patient factors on variation in surgeon recommendations. CLINICAL RELEVANCE: Surgeons' awareness of the potential influence of subjective factors on their recommendations might contribute to efforts to ensure that patient choices reflect what matters most to them and are not based on misconceptions.

Body Contouring Surgery after Massive Weight Loss: Excess Skin, Body Satisfaction, and Qualification for Reimbursement in a Dutch Post-Bariatric Surgery Population.

BACKGROUND: Body contouring surgery improves quality of life, weight loss, and body image after bariatric surgery. It is unclear why only a minority of the post-bariatric surgery population undergoes body contouring surgery. This study assesses overhanging skin, body satisfaction, and qualification for reimbursement of body contouring surgery in a Dutch post-bariatric surgery population. METHODS: Post-bariatric patients were selected from a prospective database. Electronic questionnaires evaluated demographics, desire for body contouring surgery, excess skin, and satisfaction with their body. RESULTS: A total of 590 patients were included: 368 patients (62.4 percent) desired body contouring surgery, 157 (26.6 percent) did not and 65 (11.0 percent) had undergone body contouring surgery. There were no significant differences between the groups regarding the percentage of patients who met the qualifications for reimbursement. Patients who desired body contouring surgery had more body parts affected by overhanging skin and more often rated the overhanging skin with a Pittsburgh Rating Scale grade 3 compared with patients without a desire to undergo body contouring surgery. The plastic surgeon was never consulted by 39.1 percent of the "desire" population; 44.1 percent of these patients met the weight criteria. CONCLUSIONS: Post-bariatric patients who desired body contouring surgery had more excess skin than patients without a desire and were less satisfied with their body. Almost half of these patients never consulted a plastic surgeon, partly because of incorrect assumptions regarding reimbursement. Plastic surgeons (together with bariatric teams) should better inform these patients about body contouring surgery possibilities.

Mortality in Robin sequence: identification of risk factors.

Although Robin sequence (RS) is a well-known phenomenon, it is still associated with considerable morbidity and even mortality. The purposes of this study were to gain greater insight into the mortality rate and identify risk factors associated with mortality in RS. We retrospectively reviewed all RS infants followed at the Wilhelmina Children's Hospital from 1995 to 2016. Outcome measurements were death and causes of death. The authors identified 103 consecutive RS infants with a median follow-up of 8.6 years (range 0.1-21.9 years). Ten of the 103 infants (10%) died at a median age of 0.8 years (range 0.1-5.9 years). Nine of these ten infants (90%) were diagnosed with an associated syndrome. Of these, seven infants died of respiratory insufficiency due to various causes (two related to upper airway obstruction). The other two syndromic RS infants died of arrhythmia due to hypernatremia and of West syndrome with status epilepticus. One isolated RS infant died of brain ischemia after MDO surgery. Cardiac anomalies were observed in 41% and neurological anomalies in 36%. The presence of a neurological anomaly was associated with a mortality rate of 40% versus 7% in infants with no neurological anomaly (p = 0.016), with an odds ratio of 8.3 (95% CI 1.4-49.0) for neurological anomaly versus no neurological anomaly. Mortality was 15% in infants with syndromic RS versus 2% in infants with isolated RS (p = 0.044). Mortality was not significantly associated with the presence of a cardiac anomaly, surgical treatment for severe respiratory distress in the neonatal period, or prematurity. CONCLUSION: RS represents a heterogeneous patient population and is associated with a high level of underlying syndromes. The present study reports a mortality rate of 10% significantly associated with syndromic RS and the presence of neurological anomalies. A multidisciplinary approach in all infants born with RS, including genetic testing and examination of neurological anomalies in a standardized way, is crucial to identify infants with underlying syndromes potentially associated with increased mortality. What is Known: • Reported mortality rates in Robin sequence vary from 2% to 26%. • Clinicians mainly focus on the morbidity of Robin sequence that includes respiratory complications due to upper airway obstruction in the period after birth. • Robin sequence represents a heterogeneous patient population and is associated with a high level of underlying syndromes. What is New: • The present study reports a mortality rate of 10% significantly associated with syndromic Robin sequence and the presence of neurological anomalies. • A multidisciplinary approach in all infants born with Robin sequence, including genetic evaluation and standardized workup for neurological anomalies, is crucial to identify infants with underlying syndromes potentially associated with increased mortality.

Reliability of the Dutch Cleft Speech Evaluation Test and Conversion to the Proposed Universal Scale.

The Dutch cleft speech evaluation test (DCSET) has been implemented by the speech-language pathologists nationwide in the Netherlands since 2003, but the inter- and intrarater reliability was unknown. Two speech-language pathologists experienced in evaluating cleft speech assessed audio recordings of 20 children with cleft speech using the DCSET, and reassessed the recordings 2 weeks later. Intra- and interrater reliability was calculated, but found to be unacceptable after the first phase of this study using audio recordings. Following consensus training and some modifications in the scoring scales, the study was repeated using video recordings of 20 different children with cleft speech. Results from the second phase of this study using standardized video recordings showed fair, moderate, and good reliability on different subsets of the DCSET. Intrarater reliability (Kappa 0.59-1.00) was greater than interrater reliability (Kappa 0.33-0.79). Interrater reliability agreement was good (Kappa 0.63-0.79) for consonant production errors and speech understandability and acceptability, moderate (Kappa 0.59) for the resonance of the nasal passage, and fair (Kappa 0.33-0.37) for the resonance of the mixed and denasal passages. Subsequently, an algorithm was made to convert the DCSET scales to universal scales for international comparison of cleft speech as suggested by Henningsson et al in 2008.

Long-term craniofacial morphology in young adults treated for a non-syndromal UCLP: A systematic review.

Minimizing mid-facial growth impairment is one of the treatment goals in cleft lip and palate surgery. As growth of the maxilla extends into young adulthood, long-term evaluation is essential to make a comprehensive assessment of a treatment protocol. There are numerous treatment approaches for cleft lip/palate surgery, and most have the characteristic distinction between either an early or a late cleft palate closure. PRISMA guidelines were applied to explore the quality of the current literature and to identify treatment factors influencing long-term cephalometric outcomes. The literature search was conducted in Pubmed, The Cochrane Library and Embase. We included studies evaluating cephalometric outcomes (SNA and ANB values on 2D cephalograms) in UCLP patients with a mean age of 16 years and older. Studies with an inadequate description of the timing of surgery were excluded. 17 studies comprising 906 patients were selected and included for critical appraisal. Treatment protocols differed considerably among the included studies and inconsistent methodology was common. Eight studies applied a one-stage procedure, 11 studies performed a two-stage reconstruction, and five studies made use of a vomer flap. Applying a multivariate model, we did not identify any treatment factors that significantly influenced growth (SNA/ANB values), except for the method of inclusion, suggesting the presence of significant selection bias within the studies. The current literature remains inadequate for evidence-based decision making and to advise parents if an early or late palate closure leads to a more favorable maxillary outgrowth. This manuscript will propose guidelines and recommended quality criteria for future studies.

Joint distraction for thumb carpometacarpal osteoarthritis: a feasibility study with 1-year follow-up.

OBJECTIVE: The purpose of this pilot study was to evaluate the feasibility of joint distraction of the first carpometacarpal (CMC1) joint in patients with CMC1 osteoarthritis (OA). METHODS: An external joint distractor was placed over the CMC1 joint by K-wire fixation in the trapezium and the metacarpal. The joint was distracted 3 mm during surgery. The device was then kept in place for 8 weeks. Disabilities of the Arm, Shoulder, and Hand (DASH) score, Michigan Hand Outcome Questionnaire (MHQ), Visual Analogue Scale (VAS), and grip strength were recorded preoperatively and at set postoperative intervals. RESULTS: Five female patients with an average age of 53 years (range = 41-61) were included. One year postoperatively, average DASH, MHQ, and VAS scores improved compared to preoperative values; DASH 53 to 27, MHQ 48 to 76, and VAS pain 48 to 14. There were no technical problems associated with the device. One patient had a local pin site infection treated successfully with oral antibiotics. CONCLUSIONS: This study concludes that joint distraction of the osteoarthritic CMC1 joint is technically feasible. In this small, prospective pilot study the majority of the results were favourable during short-term follow-up.

Minimally Invasive Strip Craniectomy Simplifies Anesthesia Practice in Patients With Isolated Sagittal Synostosis.

BACKGROUND: Traditional open corrective surgery for isolated sagittal synostosis entails significant blood loss, transfusion rates, morbidity, and a lengthy hospitalization. Minimally invasive strip craniectomy (MISC) was introduced to avoid the disadvantages of open techniques. OBJECTIVES: The aim of the study was, first, to compare the anesthesia practice in MISC and open extended strip craniectomy (OESC), and, second, to evaluate the incidence of perioperative complications in both surgical procedures. METHODS: A retrospective analysis was conducted for all consecutive patients receiving either OESC or MISC for nonsyndromic isolated sagittal synostosis between January 2006 and February 2014. The primary endpoints were the volume of blood loss, the volume of infused blood products, the duration of surgery, the anesthesia time, the intubation time, and the length of admission to high care units and the hospital. RESULTS: In MISC, the median duration of surgery (90 versus 178 min.), anesthesia time (178 versus 291 min), and intubation time (153 versus 294 min) were all significantly (P < 0.001) shorter than in OESC. Intraoperative blood loss was less in MISC than in OESC (3.8 versus 29.7 mL/kg, P < 0.001), requiring less crystalloids (33.3 versus 76.9 mL/kg, P < 0.001) as well as less erythrocyte transfusions (0.0 versus 19.7 mL/kg, P < 0.001) in a smaller number of patients (2/20 versus 13/15). The improved hemodynamic stability in MISC allowed for placement of less arterial and central venous catheters. After OESC all 15 patients were admitted to high care units, compared with 9 of 20 in MISC. The overall median hospital stay was shorter in MISC than in OESC (4 versus 6 d, P < 0.001). Although the incidence of technical complications was similar in both techniques, patients in MISC were less affected by perioperative electrolyte and acid-base disturbances and postoperative pyrexia. CONCLUSIONS: Minimally invasive strip craniectomy simplifies anesthesia practice relative to OESC with shorter operative times, decreased needs for replacement fluids and blood products, lessened requirements for invasive monitoring, and reduced demands for postoperative high care beds.

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).

The oral-facial-digital (OFD) syndromes comprise a group of related disorders with a combination of oral, facial and digital anomalies. Variants in several ciliary genes have been associated with subtypes of OFD syndrome, yet in most OFD patients the underlying cause remains unknown. We investigated the molecular basis of disease in two brothers with OFD type II, Mohr syndrome, by performing single-nucleotide polymorphism (SNP)-array analysis on the brothers and their healthy parents to identify homozygous regions and candidate genes. Subsequently, we performed whole-exome sequencing (WES) on the family. Using WES, we identified compound heterozygous variants c.[464G>C];[1226G>A] in NIMA (Never in Mitosis Gene A)-Related Kinase 1 (NEK1). The novel variant c.464G>C disturbs normal splicing in an essential region of the kinase domain. The nonsense variant c.1226G>A, p.(Trp409*), results in nonsense-associated alternative splicing, removing the first coiled-coil domain of NEK1. Candidate variants were confirmed with Sanger sequencing and alternative splicing assessed with cDNA analysis. Immunocytochemistry was used to assess cilia number and length. Patient-derived fibroblasts showed severely reduced ciliation compared with control fibroblasts (18.0 vs 48.9%, P<0.0001), but showed no significant difference in cilia length. In conclusion, we identified compound heterozygous deleterious variants in NEK1 in two brothers with Mohr syndrome. Ciliation in patient fibroblasts is drastically reduced, consistent with a ciliary defect pathogenesis. Our results establish NEK1 variants involved in the etiology of a subset of patients with OFD syndrome type II and support the consideration of including (routine) NEK1 analysis in patients suspected of OFD.

Inhibited early immunologic response is associated with hypertrophic scarring.

This study aimed to examine changes in the inflammatory response in early hypertrophic compared to normal wound healing. The immune system is thought to be involved in hypertrophic scar formation. However, the exact mechanism and time of onset of the derailment remain unknown. In a prospective observational study, skin biopsies were taken directly postwounding and 3 hours later from patients who had elective cardiothoracic surgery. The skin biopsies were analysed for mRNA, proteins and cells involved in the early inflammatory phase of wound healing. The endpoint was scar outcome (hypertrophic (HTS) or normal (NTS)) at one year after surgery. There were significant differences between the NTS and HTS groups regarding the fold changes of mRNA expression of P-selectin during surgery. Postoperative skin concentrations of inflammatory proteins IL-6, IL-8 and CCL2 were significantly lower in the HTS compared to the NTS group. Also, a trend of higher pre-operative M2 macrophage numbers was observed in the HTS group. Neutrophil numbers increased equally during surgery in both groups. The increase of P-selectin mRNA in hypertrophic wound healing could affect leucocyte migration. The decreased concentrations of inflammatory proteins in hypertrophic wound healing indicate a reduced inflammatory response, which has consequences for the treatment of hypertrophic scarring during the early inflammatory phase. In a conclusion, alterations of wound healing associated with hypertrophic scarring are visible as early as 3 hours postwounding and include a reduced rather than increased inflammatory protein response.

Long-Term Results of Mandibular Distraction Osteogenesis with a Resorbable Device in Infants with Robin Sequence: Effects on Developing Molars and Mandibular Growth.

BACKGROUND: Mandibular distraction osteogenesis with a unidirectional resorbable device is an effective treatment option for severe upper airway obstruction in infants with Robin sequence. Long-term effects, especially with regard to tooth development and mandibular outgrowth, are not known. METHODS: Robin sequence infants with a follow-up of greater than or equal to 5 years were included. Baseline characteristics were extracted from medical records. Panoramic and lateral cephalometric radiographs were analyzed and patients were recalled for physical examination. RESULTS: Ten infants underwent mandibular distraction osteogenesis at a mean age of 3.7 months (median, 19 months; range, 11 days to 27 months). Mean length of follow-up was 6.8 years (range, 5.0 to 7.9 years). Ten Robin sequence infants without mandibular distraction osteogenesis (mean length of follow-up, 7.4 years; range, 6.7 to 8.9 years) were the controls. Shape anomalies, positional changes, and root malformations of molars were seen significantly more often than in the control group (p = 0.007, p = 0.009, and p = 0.043, respectively). Mandibular length was shorter (p = 0.030), but mandibular ramus height was comparable (p = 0.838) with that of the non-mandibular distraction osteogenesis group. Compared with healthy controls, all Robin sequence infants had a significantly shorter mandible. CONCLUSIONS: Mandibular distraction osteogenesis with a resorbable system reveals overall good short- and long-term results, but the effects on developing molars and mandibular outgrowth likely necessitate secondary procedures. This factor should be considered when deciding on treatment options and counseling of parents. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.

Partial trapeziectomy and interposition of fascia lata allograft in the operative treatment of thumb base osteoarthritis.

AIM: The purpose of this retrospective cohort study was to evaluate the results of fascia lata allograft interposition after partial trapeziectomy in patients with symptomatic first carpometacarpal joint osteoarthritis. METHODS AND RESULTS: Twenty-one patients (22 thumbs) with Eaton-Glickel stage II or III first carpometacarpal joint osteoarthritis were included. After a mean follow-up duration of 70.2 months, most patients experienced minimal pain. The operation was graded excellent or good by 15 patients (15 hands). Active range of motion and strength measurements were comparable to the contralateral hand, except for extension, which was slightly better in the contralateral hand. The mean radiologically measured difference pre- and postoperatively in distance between distal part of the trapezium and base of the metacarpal was 2.7 mm. Two patients had reoperations in the first year after the initial operation because of ongoing pain. CONCLUSION: Partial trapeziectomy with interposition of fascia lata allograft in patients with symptomatic first carpometacarpal joint osteoarthritis can achieve reasonable results. It may be considered a reliable operative treatment option in patients with first carpometacarpal joint osteoarthritis.